id	category	name	description	xref	provided_by	synonym	iri	knowledge_source	object	predicate	relation	same_as	subject	subsets
HP:0000001	biolink:PhenotypicFeature	All		UMLS:C0444868	hp.json		http://purl.obolibrary.org/obo/HP_0000001							
HP:0000002	biolink:PhenotypicFeature	Abnormality of body height	Deviation from the norm of height with respect to that which is expected according to age and gender norms.	UMLS:C4025901	hp.json	Abnormality of body height	http://purl.obolibrary.org/obo/HP_0000002							
HP:0000003	biolink:PhenotypicFeature	Multicystic kidney dysplasia	Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.	MSH:D021782|SNOMEDCT_US:204962002|SNOMEDCT_US:82525005|UMLS:C3714581	hp.json	Multicystic dysplastic kidney|Multicystic kidneys|Multicystic renal dysplasia	http://purl.obolibrary.org/obo/HP_0000003							
HP:0000005	biolink:PhenotypicFeature	Mode of inheritance	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.	UMLS:C1708511	hp.json	Inheritance	http://purl.obolibrary.org/obo/HP_0000005							
HP:0000006	biolink:PhenotypicFeature	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.	SNOMEDCT_US:263681008|UMLS:C0443147	hp.json	Autosomal dominant|Autosomal dominant form|Autosomal dominant type	http://purl.obolibrary.org/obo/HP_0000006							
HP:0000007	biolink:PhenotypicFeature	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).	SNOMEDCT_US:258211005|UMLS:C0441748|UMLS:C4020899	hp.json	Autosomal recessive|Autosomal recessive form|Autosomal recessive predisposition	http://purl.obolibrary.org/obo/HP_0000007							
HP:0000008	biolink:PhenotypicFeature	Abnormal morphology of female internal genitalia	An abnormality of the female internal genitalia.	UMLS:C4025900	hp.json	Abnormality of female internal genitalia	http://purl.obolibrary.org/obo/HP_0000008							
HP:0000009	biolink:PhenotypicFeature	Functional abnormality of the bladder	Dysfunction of the urinary bladder.	UMLS:C3806583	hp.json	Poor bladder function	http://purl.obolibrary.org/obo/HP_0000009							
HP:0000010	biolink:PhenotypicFeature	Recurrent urinary tract infections	Repeated infections of the urinary tract.	SNOMEDCT_US:197927001|UMLS:C0262655	hp.json	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							
HP:0000011	biolink:PhenotypicFeature	Neurogenic bladder	A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.	MSH:D001750|SNOMEDCT_US:397732007|SNOMEDCT_US:398064005|UMLS:C0005697	hp.json	Lack of bladder control due to nervous system injury	http://purl.obolibrary.org/obo/HP_0000011							
HP:0000012	biolink:PhenotypicFeature	Urinary urgency	Urge incontinence is the strong, sudden need to urinate.	SNOMEDCT_US:75088002|UMLS:C0085606|UMLS:C3544092|UMLS:C4020898	hp.json	Overactive bladder|Urinary urgency|Overactive bladder syndrome|Urgency frequency syndrome	http://purl.obolibrary.org/obo/HP_0000012							
HP:0000013	biolink:PhenotypicFeature	Hypoplasia of the uterus	Underdevelopment of the uterus.	SNOMEDCT_US:35850006|UMLS:C0266399	hp.json	Small uterus|Underdeveloped uterus|Hypoplastic uterus|Rudimentary uterus	http://purl.obolibrary.org/obo/HP_0000013							
HP:0000014	biolink:PhenotypicFeature	Abnormality of the bladder	An abnormality of the urinary bladder.	UMLS:C0149632	hp.json		http://purl.obolibrary.org/obo/HP_0000014							
HP:0000015	biolink:PhenotypicFeature	Bladder diverticulum	Diverticulum (sac or pouch) in the wall of the urinary bladder.	MSH:C562406|SNOMEDCT_US:197866008|UMLS:C0156273	hp.json	Bladder diverticula	http://purl.obolibrary.org/obo/HP_0000015							
HP:0000016	biolink:PhenotypicFeature	Urinary retention	Inability to completely empty the urinary bladder during the process of urination.	MSH:D016055|SNOMEDCT_US:130951007|SNOMEDCT_US:267064002|SNOMEDCT_US:449491000124101|UMLS:C0080274	hp.json	Increased post-void residual urine volume	http://purl.obolibrary.org/obo/HP_0000016							
HP:0000017	biolink:PhenotypicFeature	Nocturia	Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.	MSH:D053158|SNOMEDCT_US:139394000|UMLS:C0028734	hp.json	Nycturia	http://purl.obolibrary.org/obo/HP_0000017							
HP:0000019	biolink:PhenotypicFeature	Urinary hesitancy	Difficulty in beginning the process of urination.	SNOMEDCT_US:5972002|UMLS:C0152032	hp.json	Difficulty with flow	http://purl.obolibrary.org/obo/HP_0000019							
HP:0000020	biolink:PhenotypicFeature	Urinary incontinence	Loss of the ability to control the urinary bladder leading to involuntary urination.	MSH:D014549|SNOMEDCT_US:165232002|UMLS:C0042024	hp.json	Loss of bladder control|Bladder incontinence	http://purl.obolibrary.org/obo/HP_0000020							
HP:0000021	biolink:PhenotypicFeature	Megacystis	Dilatation of the bladder postnatally.	MSH:C536139|UMLS:C1855311	hp.json		http://purl.obolibrary.org/obo/HP_0000021							
HP:0000022	biolink:PhenotypicFeature	Abnormality of male internal genitalia	An abnormality of the male internal genitalia.	UMLS:C4025899	hp.json		http://purl.obolibrary.org/obo/HP_0000022							
HP:0000023	biolink:PhenotypicFeature	Inguinal hernia	Protrusion of the contents of the abdominal cavity through the inguinal canal.	MEDDRA:10022016|MSH:D006552|SNOMEDCT_US:396232000|UMLS:C0019294	hp.json		http://purl.obolibrary.org/obo/HP_0000023							hposlim_core
HP:0000024	biolink:PhenotypicFeature	Prostatitis	The presence of inflammation of the prostate.	MSH:D011472|SNOMEDCT_US:9713002|UMLS:C0033581	hp.json	Inflammation of the prostate	http://purl.obolibrary.org/obo/HP_0000024							
HP:0000025	biolink:PhenotypicFeature	Functional abnormality of male internal genitalia		UMLS:C4025898	hp.json		http://purl.obolibrary.org/obo/HP_0000025							
HP:0000026	biolink:PhenotypicFeature	Male hypogonadism	Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.	MSH:D005058|SNOMEDCT_US:48723006|UMLS:C0151721	hp.json	Decreased function of male gonad	http://purl.obolibrary.org/obo/HP_0000026							
HP:0000027	biolink:PhenotypicFeature	Azoospermia	Absence of any measurable level of sperm in his semen.	MSH:D053713|SNOMEDCT_US:425558002|SNOMEDCT_US:48188009|UMLS:C0004509	hp.json	Absent sperm in semen	http://purl.obolibrary.org/obo/HP_0000027							
HP:0000028	biolink:PhenotypicFeature	Cryptorchidism	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.	Fyler:4493|MSH:D003456|SNOMEDCT_US:204878001|UMLS:C0010417	hp.json	Undescended testes|Undescended testis|Cryptorchism	http://purl.obolibrary.org/obo/HP_0000028							
HP:0000029	biolink:PhenotypicFeature	Testicular atrophy	Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.	SNOMEDCT_US:17585008|UMLS:C0156312	hp.json	Testicular degeneration	http://purl.obolibrary.org/obo/HP_0000029							
HP:0000030	biolink:PhenotypicFeature	Testicular gonadoblastoma	The presence of a gonadoblastoma of the testis.	NCIT:C3754|UMLS:C1515283	hp.json	Gonadoblastoma, male	http://purl.obolibrary.org/obo/HP_0000030							
HP:0000031	biolink:PhenotypicFeature	Epididymitis	The presence of inflammation of the epididymis.	MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534	hp.json		http://purl.obolibrary.org/obo/HP_0000031							
HP:0000032	biolink:PhenotypicFeature	Abnormality of male external genitalia	An abnormality of male external genitalia.	UMLS:C4025897	hp.json		http://purl.obolibrary.org/obo/HP_0000032							
HP:0000033	biolink:PhenotypicFeature	Ambiguous genitalia, male	Ambiguous genitalia in an individual with XY genetic gender.	UMLS:C4021823	hp.json	Ambiguous genitalia in males	http://purl.obolibrary.org/obo/HP_0000033							
HP:0000034	biolink:PhenotypicFeature	Hydrocele testis	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.	MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|SNOMEDCT_US:55434001|UMLS:C1720771	hp.json	Hydrocele|Testicular hydrocele	http://purl.obolibrary.org/obo/HP_0000034							
HP:0000035	biolink:PhenotypicFeature	Abnormal testis morphology	An anomaly of the testicle (the male gonad).	SNOMEDCT_US:55631001|UMLS:C0266423	hp.json	Abnormality of the testis|Anomaly of the testes	http://purl.obolibrary.org/obo/HP_0000035							
HP:0000036	biolink:PhenotypicFeature	Abnormal penis morphology	Abnormality of the male external sex organ.	UMLS:C4025896	hp.json	Abnormality of the penis	http://purl.obolibrary.org/obo/HP_0000036							
HP:0000037	biolink:PhenotypicFeature	Male pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.	MSH:D058490|SNOMEDCT_US:111332007|UMLS:C0238395	hp.json		http://purl.obolibrary.org/obo/HP_0000037							
HP:0000039	biolink:PhenotypicFeature	Epispadias	Displacement of the urethral opening on the dorsal (superior) surface of the penis.	SNOMEDCT_US:406477003|UMLS:C0563449	hp.json		http://purl.obolibrary.org/obo/HP_0000039							
HP:0000040	biolink:PhenotypicFeature	Long penis	Penile length more than 2 SD above the mean for age.	SNOMEDCT_US:88673001|UMLS:C0269011	hp.json	Enlarged penis|Long penis	http://purl.obolibrary.org/obo/HP_0000040							
HP:0000041	biolink:PhenotypicFeature	Chordee	Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.	SNOMEDCT_US:4287008|UMLS:C0221182	hp.json		http://purl.obolibrary.org/obo/HP_0000041							
HP:0000042	biolink:PhenotypicFeature	Absent external genitalia	Lack of external genitalia in a male or female individual.	UMLS:C1848869	hp.json	Absent external genitalia	http://purl.obolibrary.org/obo/HP_0000042							
HP:0000044	biolink:PhenotypicFeature	Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).	MSH:D007006|SNOMEDCT_US:33927004|UMLS:C0271623|UMLS:C3489396	hp.json	Hypogonadotrophic hypogonadism|Low gonadotropins (secondary hypogonadism)|Isolated hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/HP_0000044							
HP:0000045	biolink:PhenotypicFeature	Abnormality of the scrotum		UMLS:C4025895	hp.json		http://purl.obolibrary.org/obo/HP_0000045							
HP:0000046	biolink:PhenotypicFeature	Scrotal hypoplasia		SNOMEDCT_US:204912007|UMLS:C0431659	hp.json	Smaller than typical growth of scrotum|Hypoplastic scrotum	http://purl.obolibrary.org/obo/HP_0000046							
HP:0000047	biolink:PhenotypicFeature	Hypospadias	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.	Fyler:4504|SNOMEDCT_US:204888000|UMLS:C1691215	hp.json	Hypospadia	http://purl.obolibrary.org/obo/HP_0000047							
HP:0000048	biolink:PhenotypicFeature	Bifid scrotum	Midline indentation or cleft of the scrotum.	SNOMEDCT_US:236780002|UMLS:C0341787	hp.json	Cleft of scrotum|Scrotal cleft	http://purl.obolibrary.org/obo/HP_0000048							
HP:0000049	biolink:PhenotypicFeature	Shawl scrotum	Superior margin of the scrotum superior to the base of the penis.	UMLS:C1858539	hp.json	Scrotum surrounds penis|Overriding scrotum	http://purl.obolibrary.org/obo/HP_0000049							
HP:0000050	biolink:PhenotypicFeature	Hypoplastic male external genitalia	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).	UMLS:C1852534	hp.json	Small male external genitalia|Underdeveloped male genitalia|Hypoplastic male genitalia	http://purl.obolibrary.org/obo/HP_0000050							
HP:0000051	biolink:PhenotypicFeature	Perineal hypospadias	Hypospadias with location of the urethral meatus in the perineal region.	SNOMEDCT_US:204890004|UMLS:C0452148	hp.json		http://purl.obolibrary.org/obo/HP_0000051							
HP:0000052	biolink:PhenotypicFeature	Urethral atresia, male	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.	UMLS:C4025894	hp.json		http://purl.obolibrary.org/obo/HP_0000052							
HP:0000053	biolink:PhenotypicFeature	Macroorchidism	The presence of abnormally large testes.	UMLS:C1263023	hp.json	Large testis|Large testicles	http://purl.obolibrary.org/obo/HP_0000053							
HP:0000054	biolink:PhenotypicFeature	Micropenis	Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.	SNOMEDCT_US:34911001|UMLS:C4551492	hp.json	Short penis|Small penis	http://purl.obolibrary.org/obo/HP_0000054							
HP:0000055	biolink:PhenotypicFeature	Abnormality of female external genitalia	An abnormality of the female external genitalia.	UMLS:C4021822	hp.json	Abnormal female external genitalia	http://purl.obolibrary.org/obo/HP_0000055							
HP:0000056	biolink:PhenotypicFeature	Abnormality of the clitoris	An abnormality of the clitoris.	UMLS:C4025893	hp.json	Abnormality of the clit	http://purl.obolibrary.org/obo/HP_0000056							
HP:0000057	biolink:PhenotypicFeature	obsolete Clitoromegaly			hp.json		http://purl.obolibrary.org/obo/HP_0000057							
HP:0000058	biolink:PhenotypicFeature	Abnormal labia morphology	An anomaly of the labia, the externally visible portions of the vulva.	UMLS:C4025892	hp.json	Abnormality of the labia	http://purl.obolibrary.org/obo/HP_0000058							
HP:0000059	biolink:PhenotypicFeature	Hypoplastic labia majora	Undergrowth of the outer labia.	SNOMEDCT_US:289469003|UMLS:C0566899	hp.json	Small labia majora|Underdeveloped vaginal lips|Hypoplasia of labia majora	http://purl.obolibrary.org/obo/HP_0000059							
HP:0000060	biolink:PhenotypicFeature	Clitoral hypoplasia	Developmental hypoplasia of the clitoris.	UMLS:C1844527	hp.json	Small clitoris|Underdeveloped clit|Hypoplastic clitoris	http://purl.obolibrary.org/obo/HP_0000060							
HP:0000061	biolink:PhenotypicFeature	Ambiguous genitalia, female	Ambiguous genitalia in an individual with XX genetic gender.	UMLS:C1859980|UMLS:C4025891	hp.json	Atypical appearance of female genitals|Ambiguous genitalia due to virilization	http://purl.obolibrary.org/obo/HP_0000061							
HP:0000062	biolink:PhenotypicFeature	Ambiguous genitalia	A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.	MSH:D012734|SNOMEDCT_US:21321009|UMLS:C0266362	hp.json	Ambiguous external genitalia|Ambiguous external genitalia at birth|Intersex genitalia	http://purl.obolibrary.org/obo/HP_0000062							
HP:0000063	biolink:PhenotypicFeature	Fused labia minora	Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.	UMLS:C1837532	hp.json	Fused inner lips	http://purl.obolibrary.org/obo/HP_0000063							
HP:0000064	biolink:PhenotypicFeature	Hypoplastic labia minora		UMLS:C1849295	hp.json	Underdeveloped inner lips	http://purl.obolibrary.org/obo/HP_0000064							
HP:0000065	biolink:PhenotypicFeature	Labial hypertrophy		SNOMEDCT_US:16924008|UMLS:C0404531	hp.json	Enlargement of the labia|Enlargement of the vaginal lips|Enlarged vaginal lips	http://purl.obolibrary.org/obo/HP_0000065							
HP:0000066	biolink:PhenotypicFeature	Labial hypoplasia		UMLS:C1850325	hp.json	Underdeveloped labia|Hypoplastic labia	http://purl.obolibrary.org/obo/HP_0000066							
HP:0000067	biolink:PhenotypicFeature	Urethral atresia, female	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.	UMLS:C4025890	hp.json		http://purl.obolibrary.org/obo/HP_0000067							
HP:0000068	biolink:PhenotypicFeature	Urethral atresia	Congenital anomaly characterized by closure or failure to develop an opening in the urethra.	UMLS:C1610065	hp.json	Absent urethral opening|Urethral opening absent	http://purl.obolibrary.org/obo/HP_0000068							
HP:0000069	biolink:PhenotypicFeature	Abnormality of the ureter	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	UMLS:C1840382	hp.json	Abnormality of the ureters|Ureter issue|Ureteral anomalies	http://purl.obolibrary.org/obo/HP_0000069							
HP:0000070	biolink:PhenotypicFeature	Ureterocele	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.	MSH:D014518|SNOMEDCT_US:12818004|UMLS:C0041960	hp.json		http://purl.obolibrary.org/obo/HP_0000070							
HP:0000071	biolink:PhenotypicFeature	Ureteral stenosis	The presence of a stenotic, i.e., constricted ureter.	SNOMEDCT_US:95574003|UMLS:C0521618	hp.json	Narrowing of the ureter	http://purl.obolibrary.org/obo/HP_0000071							
HP:0000072	biolink:PhenotypicFeature	Hydroureter	The distention of the ureter with urine.	SNOMEDCT_US:69758005|SNOMEDCT_US:95576001|UMLS:C0521620|UMLS:C4020897	hp.json	Dilated ureter|Megaureter|Swelling of ureter|Ureteral dilatation|Wide ureter|Uroureter	http://purl.obolibrary.org/obo/HP_0000072							
HP:0000073	biolink:PhenotypicFeature	Ureteral duplication	A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.	SNOMEDCT_US:49496001|UMLS:C0221365	hp.json	Double ureter	http://purl.obolibrary.org/obo/HP_0000073							
HP:0000074	biolink:PhenotypicFeature	Ureteropelvic junction obstruction	Blockage of urine flow from the renal pelvis to the proximal ureter.	MSH:C537373|SNOMEDCT_US:95575002|UMLS:C0521619	hp.json	Pelviureteric junction obstruction|Ureteropelvic junction stenosis	http://purl.obolibrary.org/obo/HP_0000074							
HP:0000075	biolink:PhenotypicFeature	Renal duplication	A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.	SNOMEDCT_US:30275001|UMLS:C0266298	hp.json	Extra kidney|Supernumerary kidney	http://purl.obolibrary.org/obo/HP_0000075							
HP:0000076	biolink:PhenotypicFeature	Vesicoureteral reflux	Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.	Fyler:4510|MSH:D014718|SNOMEDCT_US:197811007|UMLS:C0042580	hp.json	Ureteral reflux|Ureteric reflux|Vesico-ureteral reflux|Vesicoureteric reflux	http://purl.obolibrary.org/obo/HP_0000076							
HP:0000077	biolink:PhenotypicFeature	Abnormality of the kidney	An abnormality of the kidney.	MSH:D007674|SNOMEDCT_US:44513007|SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C0266292	hp.json	Abnormal kidney|Abnormality of the kidney|Renal anomalies|Renal anomaly	http://purl.obolibrary.org/obo/HP_0000077							
HP:0000078	biolink:PhenotypicFeature	Abnormality of the genital system	An abnormality of the genital system.	UMLS:C0281966|UMLS:C0744356	hp.json	Genital abnormalities|Genital abnormality|Genital anomalies|Genital defects|Abnormality of the reproductive system	http://purl.obolibrary.org/obo/HP_0000078							
HP:0000079	biolink:PhenotypicFeature	Abnormality of the urinary system	An abnormality of the urinary system.	UMLS:C4021821	hp.json	Urinary tract abnormalities|Urinary tract abnormality|Urinary tract anomalies	http://purl.obolibrary.org/obo/HP_0000079							
HP:0000080	biolink:PhenotypicFeature	Abnormality of reproductive system physiology	An abnormal functionality of the genital system.	UMLS:C4020896|UMLS:C4021820	hp.json	Abnormality of genital physiology|Abnormality of reproductive system physiology|Genital functional abnormality	http://purl.obolibrary.org/obo/HP_0000080							
HP:0000081	biolink:PhenotypicFeature	Duplicated collecting system	A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.	UMLS:C1858565	hp.json	Double collecting system|Double urinary collecting systems on intravenous pyelography|Duplex collecting system|Duplicated renal collecting system	http://purl.obolibrary.org/obo/HP_0000081							
HP:0000083	biolink:PhenotypicFeature	Renal insufficiency	A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.	MSH:D051437|SNOMEDCT_US:236423003|SNOMEDCT_US:42399005|UMLS:C0035078|UMLS:C1565489|UMLS:C1839604	hp.json	Renal failure|Renal failure in adulthood	http://purl.obolibrary.org/obo/HP_0000083							
HP:0000085	biolink:PhenotypicFeature	Horseshoe kidney	A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.	Fyler:4507|MSH:D000069337|SNOMEDCT_US:41729002|UMLS:C0221353	hp.json	Horseshoe kidney|Horseshoe kidneys|Fused kidneys	http://purl.obolibrary.org/obo/HP_0000085							
HP:0000086	biolink:PhenotypicFeature	Ectopic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position.	SNOMEDCT_US:16507009|UMLS:C0238207	hp.json	Abnormal kidney location|Displaced kidney|Ectopic kidneys|Renal ectopia	http://purl.obolibrary.org/obo/HP_0000086							
HP:0000089	biolink:PhenotypicFeature	Renal hypoplasia	Hypoplasia of the kidney.	SNOMEDCT_US:32659003|UMLS:C0266295	hp.json	Small kidneys|Underdeveloped kidneys|Hypoplastic kidney|Hypoplastic kidneys	http://purl.obolibrary.org/obo/HP_0000089							
HP:0000090	biolink:PhenotypicFeature	Nephronophthisis	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.	SNOMEDCT_US:204958008|UMLS:C0687120	hp.json	juvenile nephronophthisis	http://purl.obolibrary.org/obo/HP_0000090							
HP:0000091	biolink:PhenotypicFeature	Abnormal renal tubule morphology	An abnormality of the renal tubules.	UMLS:C4021826	hp.json	Abnormality of the renal tubule|Morphologic abnormality of the renal tubules	http://purl.obolibrary.org/obo/HP_0000091							
HP:0000092	biolink:PhenotypicFeature	Renal tubular atrophy	The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.	UMLS:C1858395	hp.json	Renal tubular cell atrophy|Tubular atrophy	http://purl.obolibrary.org/obo/HP_0000092							
HP:0000093	biolink:PhenotypicFeature	Proteinuria	Increased levels of protein in the urine.	MSH:D011507|SNOMEDCT_US:29738008|UMLS:C0033687	hp.json	High urine protein levels|Protein in urine	http://purl.obolibrary.org/obo/HP_0000093							
HP:0000095	biolink:PhenotypicFeature	Abnormal renal glomerulus morphology	A structural anomaly of the glomerulus.	UMLS:C4025889	hp.json	Abnormality of renal glomerulus morphology|Morphologic abnormality of the renal glomerulus	http://purl.obolibrary.org/obo/HP_0000095							
HP:0000096	biolink:PhenotypicFeature	Glomerular sclerosis	Accumulation of scar tissue within the glomerulus.	SNOMEDCT_US:197661001|SNOMEDCT_US:82646005|UMLS:C0178664	hp.json	Renal glomerular fibrosis|Glomerulosclerosis	http://purl.obolibrary.org/obo/HP_0000096							
HP:0000097	biolink:PhenotypicFeature	Focal segmental glomerulosclerosis	Segmental accumulation of scar tissue in individual (but not all) glomeruli.	MSH:D005923|SNOMEDCT_US:236403004|SNOMEDCT_US:25821008|UMLS:C0017668	hp.json	Focal and segmental glomerular sclerosis|Focal and segmental glomerulosclerosis|focal glomerulosclerosis	http://purl.obolibrary.org/obo/HP_0000097							
HP:0000098	biolink:PhenotypicFeature	Tall stature	A height above that which is expected according to age and gender norms.	SNOMEDCT_US:248328003|UMLS:C0241240	hp.json	Increased body height|Tall stature|Accelerated linear growth|Increased linear growth	http://purl.obolibrary.org/obo/HP_0000098							
HP:0000099	biolink:PhenotypicFeature	Glomerulonephritis	Inflammation of the renal glomeruli.	MSH:D005921|SNOMEDCT_US:36171008|UMLS:C0017658	hp.json	Glomerular nephritis	http://purl.obolibrary.org/obo/HP_0000099							
HP:0000100	biolink:PhenotypicFeature	Nephrotic syndrome	Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.	MSH:D009404|SNOMEDCT_US:52254009|UMLS:C0027726	hp.json	Nephrosis	http://purl.obolibrary.org/obo/HP_0000100							
HP:0000103	biolink:PhenotypicFeature	Polyuria	An increased rate of urine production.	MSH:D011141|SNOMEDCT_US:28442001|SNOMEDCT_US:56574000|SNOMEDCT_US:718402002|UMLS:C0032617	hp.json	Increased urine output	http://purl.obolibrary.org/obo/HP_0000103							
HP:0000104	biolink:PhenotypicFeature	Renal agenesis	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.	Fyler:4503|SNOMEDCT_US:204942005|UMLS:C0542519	hp.json	Absent kidney|Missing kidney|Renal aplasia	http://purl.obolibrary.org/obo/HP_0000104							
HP:0000105	biolink:PhenotypicFeature	Enlarged kidney	An abnormal increase in the size of the kidney.	SNOMEDCT_US:300444006|UMLS:C0542518	hp.json	Enlarged kidney|Large kidneys|Nephromegaly|Renal enlargement|Large kidney	http://purl.obolibrary.org/obo/HP_0000105							
HP:0000107	biolink:PhenotypicFeature	Renal cyst	A fluid filled sac in the kidney.	MSH:D052177|UMLS:C0022679|UMLS:C3887499	hp.json	Kidney cyst|Cystic kidney disease|Cystic kidneys|Renal cysts	http://purl.obolibrary.org/obo/HP_0000107							
HP:0000108	biolink:PhenotypicFeature	Renal corticomedullary cysts	The presence of multiple cysts at the border between the renal cortex and medulla.	UMLS:C1968619	hp.json	Corticomedullary renal cysts|Renal corticomedullary cystic disease	http://purl.obolibrary.org/obo/HP_0000108							
HP:0000110	biolink:PhenotypicFeature	Renal dysplasia	The presence of developmental dysplasia of the kidney.	MSH:C563261|SNOMEDCT_US:204949001|UMLS:C1619700|UMLS:C3536714	hp.json	Dysplastic kidneys|Renal adysplasia	http://purl.obolibrary.org/obo/HP_0000110							
HP:0000111	biolink:PhenotypicFeature	Renal juxtaglomerular cell hypertrophy/hyperplasia	Increased number and size of the juxtaglomerular cells.	UMLS:C1866496	hp.json		http://purl.obolibrary.org/obo/HP_0000111							
HP:0000112	biolink:PhenotypicFeature	Nephropathy	A nonspecific term referring to disease or damage of the kidneys.	MSH:D007674|SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C1408258	hp.json	Kidney damage|Kidney disease	http://purl.obolibrary.org/obo/HP_0000112							
HP:0000113	biolink:PhenotypicFeature	Polycystic kidney dysplasia	The presence of multiple cysts in both kidneys.	Fyler:4508|MSH:D007690|SNOMEDCT_US:82525005|UMLS:C0022680|UMLS:C1567435	hp.json	Enlarged polycystic kidneys|Polycystic kidneys|Polycystic kidney disease	http://purl.obolibrary.org/obo/HP_0000113							
HP:0000114	biolink:PhenotypicFeature	Proximal tubulopathy	Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.	UMLS:C1839603	hp.json	Proximal renal tubule defect|Proximal renal tubulopathy|Proximal tubular defect|Proximal tubule dysfunction|Selective proximal tubular damage	http://purl.obolibrary.org/obo/HP_0000114							
HP:0000117	biolink:PhenotypicFeature	Renal phosphate wasting	High urine phosphate in the presence of hypophosphatemia.	UMLS:C1845169	hp.json	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							
HP:0000118	biolink:PhenotypicFeature	Phenotypic abnormality	A phenotypic abnormality.	UMLS:C4021819	hp.json	Organ abnormality	http://purl.obolibrary.org/obo/HP_0000118							
HP:0000119	biolink:PhenotypicFeature	Abnormality of the genitourinary system	The presence of any abnormality of the genitourinary system.	MSH:D014564|SNOMEDCT_US:287085006|SNOMEDCT_US:42030000|UMLS:C0042063|UMLS:C0080276|UMLS:C4020895	hp.json	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							
HP:0000121	biolink:PhenotypicFeature	Nephrocalcinosis	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.	MSH:D009397|SNOMEDCT_US:48638002|UMLS:C0027709|UMLS:C4280679	hp.json	Too much calcium deposited in kidneys|Increased calcium level in kidney	http://purl.obolibrary.org/obo/HP_0000121							
HP:0000122	biolink:PhenotypicFeature	Unilateral renal agenesis	A unilateral form of agenesis of the kidney.	Fyler:4509|SNOMEDCT_US:55726006|UMLS:C0266294	hp.json	Absent kidney on one side|Missing one kidney|Single kidney|Unilateral kidney agenesis	http://purl.obolibrary.org/obo/HP_0000122							
HP:0000123	biolink:PhenotypicFeature	Nephritis	The presence of inflammation affecting the kidney.	MSH:D009393|SNOMEDCT_US:52845002|UMLS:C0027697	hp.json	Kidney inflammation	http://purl.obolibrary.org/obo/HP_0000123							
HP:0000124	biolink:PhenotypicFeature	Renal tubular dysfunction	Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.	SNOMEDCT_US:95568003|UMLS:C0151747	hp.json	Abnormal function of filtrating structures in kidney|Renal tubular defect|Renal tubular disease	http://purl.obolibrary.org/obo/HP_0000124							
HP:0000125	biolink:PhenotypicFeature	Pelvic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.	SNOMEDCT_US:56108007|UMLS:C0221209	hp.json	Sacral kidney	http://purl.obolibrary.org/obo/HP_0000125							
HP:0000126	biolink:PhenotypicFeature	Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.	Fyler:4502|MSH:D006869|SNOMEDCT_US:43064006|UMLS:C0020295	hp.json		http://purl.obolibrary.org/obo/HP_0000126							
HP:0000127	biolink:PhenotypicFeature	Renal salt wasting	A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).	UMLS:C1846347	hp.json	Loss of salt in urine|Renal salt-wasting|Salt wasting|Salt-wasting	http://purl.obolibrary.org/obo/HP_0000127							
HP:0000128	biolink:PhenotypicFeature	Renal potassium wasting	High urine potassium in the presence of hypokalemia.	UMLS:C1846348	hp.json	Renal K wasting	http://purl.obolibrary.org/obo/HP_0000128							
HP:0000130	biolink:PhenotypicFeature	Abnormality of the uterus	An abnormality of the uterus.	MSH:C562565|SNOMEDCT_US:37849005|UMLS:C0266383	hp.json	Abnormality of the uterus|Uterine abnormalities|Uterine malformations	http://purl.obolibrary.org/obo/HP_0000130							
HP:0000131	biolink:PhenotypicFeature	Uterine leiomyoma	The presence of a leiomyoma of the uterus.	MSH:D007889|NCIT:C3157|SNOMEDCT_US:146801000119103|SNOMEDCT_US:44598004|SNOMEDCT_US:95315005|UMLS:C0042133	hp.json	Benign uterine leiomyomas|Uterine fibroid	http://purl.obolibrary.org/obo/HP_0000131							
HP:0000132	biolink:PhenotypicFeature	Menorrhagia	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.	MSH:D008595|SNOMEDCT_US:386692008|UMLS:C0025323	hp.json	Abnormally heavy bleeding during menstruation|Abnormally heavy periods|Hypermenorrhea	http://purl.obolibrary.org/obo/HP_0000132							
HP:0000133	biolink:PhenotypicFeature	Gonadal dysgenesis		MSH:D006059|MSH:D006060|SNOMEDCT_US:205681004|SNOMEDCT_US:38804009|SNOMEDCT_US:83579008|SNOMEDCT_US:95219002|UMLS:C0018051|UMLS:C0018055|UMLS:C0687149	hp.json	Mixed gonadal dysgenesis|Pure gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0000133							
HP:0000134	biolink:PhenotypicFeature	Female hypogonadism	Decreased functionality of the female gonads, i.e., of the ovary.	SNOMEDCT_US:16041008|UMLS:C0271578	hp.json	Hypogonadism, female	http://purl.obolibrary.org/obo/HP_0000134							
HP:0000135	biolink:PhenotypicFeature	Hypogonadism	A decreased functionality of the gonad.	MSH:D007006|SNOMEDCT_US:48130008|UMLS:C0020619	hp.json	Decreased activity of gonads	http://purl.obolibrary.org/obo/HP_0000135							
HP:0000136	biolink:PhenotypicFeature	Bifid uterus	The presence of a bifid uterus.	UMLS:C1850327	hp.json		http://purl.obolibrary.org/obo/HP_0000136							
HP:0000137	biolink:PhenotypicFeature	Abnormality of the ovary	An abnormality of the ovary.	MSH:D010049|SNOMEDCT_US:5552004|UMLS:C0029928|UMLS:C4021818	hp.json	Abnormality of the ovaries|Abnormality of the ovary|Ovarian disease	http://purl.obolibrary.org/obo/HP_0000137							
HP:0000138	biolink:PhenotypicFeature	Ovarian cyst	The presence of one or more cysts of the ovary.	MSH:D010048|SNOMEDCT_US:79883001|UMLS:C0029927	hp.json	Ovarian cyst|Cystic abnormalities of the ovaries|Cystic ovaries|Ovarian cystic abnormality	http://purl.obolibrary.org/obo/HP_0000138							
HP:0000139	biolink:PhenotypicFeature	Uterine prolapse	The presence of prolapse of the uterus.	MSH:D014596|SNOMEDCT_US:24976005|UMLS:C0042140	hp.json	Sagging uterus	http://purl.obolibrary.org/obo/HP_0000139							
HP:0000140	biolink:PhenotypicFeature	Abnormality of the menstrual cycle	An abnormality of the ovulation cycle.	UMLS:C3549779|UMLS:C4025888	hp.json	Abnormality of the menstrual cycle|Menstrual abnormalities	http://purl.obolibrary.org/obo/HP_0000140							
HP:0000141	biolink:PhenotypicFeature	Amenorrhea	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.	UMLS:C2219717	hp.json	Abnormal absence of menstruation	http://purl.obolibrary.org/obo/HP_0000141							
HP:0000142	biolink:PhenotypicFeature	Abnormal vagina morphology	Any structural abnormality of the vagina.	UMLS:C1856023	hp.json	Vaginal malformation	http://purl.obolibrary.org/obo/HP_0000142							
HP:0000143	biolink:PhenotypicFeature	Rectovaginal fistula	The presence of a fistula between the vagina and the rectum.	MEDDRA:10051097|MSH:D012006|SNOMEDCT_US:65619001|UMLS:C0034895	hp.json	Abnormal connection between rectum and vagina	http://purl.obolibrary.org/obo/HP_0000143							hposlim_core
HP:0000144	biolink:PhenotypicFeature	Decreased fertility		SNOMEDCT_US:17276009|UMLS:C0520927	hp.json	Abnormal fertility|Decreased fertility	http://purl.obolibrary.org/obo/HP_0000144							
HP:0000145	biolink:PhenotypicFeature	Transverse vaginal septum		UMLS:C1856006	hp.json	Transverse vaginal membrane	http://purl.obolibrary.org/obo/HP_0000145							
HP:0000147	biolink:PhenotypicFeature	Polycystic ovaries		MSH:D011085|SNOMEDCT_US:69878008|UMLS:C0032460|UMLS:C1136382	hp.json	Polycystic ovary|Sclerocystic ovaries|Polycystic ovary disease	http://purl.obolibrary.org/obo/HP_0000147							
HP:0000148	biolink:PhenotypicFeature	Vaginal atresia	Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.	SNOMEDCT_US:87380008|UMLS:C1321884	hp.json	Abnormally closed or absent vagina	http://purl.obolibrary.org/obo/HP_0000148							
HP:0000149	biolink:PhenotypicFeature	Ovarian gonadoblastoma	The presence of a gonadoblastoma of the ovary.	NCIT:C3754|SNOMEDCT_US:716594002|UMLS:C1518716	hp.json	Gonadoblastoma, female	http://purl.obolibrary.org/obo/HP_0000149							
HP:0000150	biolink:PhenotypicFeature	Gonadoblastoma	The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.	MSH:D018238|NCIT:C3754|SNOMEDCT_US:74751003|UMLS:C0206661	hp.json		http://purl.obolibrary.org/obo/HP_0000150							
HP:0000151	biolink:PhenotypicFeature	Aplasia of the uterus	Aplasia of the uterus.	SNOMEDCT_US:248942000|UMLS:C0425913	hp.json	Absent uterus|uterus absent	http://purl.obolibrary.org/obo/HP_0000151							
HP:0000152	biolink:PhenotypicFeature	Abnormality of head or neck	An abnormality of head and neck.	UMLS:C4021817	hp.json	Abnormality of head or neck|Head and neck abnormality	http://purl.obolibrary.org/obo/HP_0000152							
HP:0000153	biolink:PhenotypicFeature	Abnormality of the mouth	An abnormality of the mouth.	MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633	hp.json	Abnormal mouth|Abnormality of the mouth	http://purl.obolibrary.org/obo/HP_0000153							hposlim_core
HP:0000154	biolink:PhenotypicFeature	Wide mouth	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).	MSH:D008265|SNOMEDCT_US:40159009|UMLS:C0024433	hp.json	Broad mouth|Large mouth|Wide mouth|Large oral aperture|Macrostomia	http://purl.obolibrary.org/obo/HP_0000154							hposlim_core
HP:0000155	biolink:PhenotypicFeature	Oral ulcer	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.	MSH:D019226|SNOMEDCT_US:26284000|UMLS:C0149745	hp.json	Mouth sore|Mouth ulcer|Oral mucosal ulceration	http://purl.obolibrary.org/obo/HP_0000155							hposlim_core
HP:0000157	biolink:PhenotypicFeature	Abnormality of the tongue	Any abnormality of the tongue.	UMLS:C0878638	hp.json	Abnormal tongue|Abnormality of the tongue|Tongue abnormality|Glossal abnormality|Lingual abnormality	http://purl.obolibrary.org/obo/HP_0000157							hposlim_core
HP:0000158	biolink:PhenotypicFeature	Macroglossia	Increased length and width of the tongue.	MSH:D008260|SNOMEDCT_US:25273001|UMLS:C0024421	hp.json	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							hposlim_core
HP:0000159	biolink:PhenotypicFeature	Abnormal lip morphology	An abnormality of the lip.	UMLS:C2183966	hp.json	Abnormal lip|Abnormality of the lip|Lip abnormality|Anomaly of lip|Deformity of lip|Malformation of lip	http://purl.obolibrary.org/obo/HP_0000159							
HP:0000160	biolink:PhenotypicFeature	Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).	MSH:D008865|SNOMEDCT_US:14582003|UMLS:C0026034	hp.json	Narrow mouth|Small mouth|Microstomia|Small oral aperture	http://purl.obolibrary.org/obo/HP_0000160							hposlim_core
HP:0000161	biolink:PhenotypicFeature	Median cleft lip	A type of cleft lip presenting as a midline (median) gap in the upper lip.	UMLS:C1850256	hp.json	Central cleft upper lip|Midline cleft lip	http://purl.obolibrary.org/obo/HP_0000161							hposlim_core
HP:0000162	biolink:PhenotypicFeature	Glossoptosis	Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.	MSH:D065710|SNOMEDCT_US:3639002|UMLS:C0267048|UMLS:C4280678	hp.json	Retraction of the tongue|Posterior displacement of the tongue|Lingual retraction	http://purl.obolibrary.org/obo/HP_0000162							hposlim_core
HP:0000163	biolink:PhenotypicFeature	Abnormal oral cavity morphology	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.	UMLS:C4025887	hp.json	Abnormality of the oral cavity	http://purl.obolibrary.org/obo/HP_0000163							
HP:0000164	biolink:PhenotypicFeature	Abnormality of the dentition	Any abnormality of the teeth.	MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444	hp.json	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							hposlim_core
HP:0000166	biolink:PhenotypicFeature	Severe periodontitis	A severe form of periodontitis.	UMLS:C4025886	hp.json	Severe gum disease|Severe periodontal disease|Severe pyorrhea	http://purl.obolibrary.org/obo/HP_0000166							
HP:0000168	biolink:PhenotypicFeature	Abnormality of the gingiva	Any abnormality of the gingiva (also known as gums).	UMLS:C4021816	hp.json	Abnormality of the gums|Gingival abnormality	http://purl.obolibrary.org/obo/HP_0000168							hposlim_core
HP:0000169	biolink:PhenotypicFeature	Gingival fibromatosis	The presence of fibrosis of the gingiva.	MSH:C562884|MSH:D005351|NCIT:C3041|SNOMEDCT_US:109620006|SNOMEDCT_US:58569000|UMLS:C0016049|UMLS:C0399440|UMLS:C4280677	hp.json	Gingival fibroma|Gingival fibrous nodules|Hereditary gingival fibromatosis|Idiopathic gingival hyperplasia	http://purl.obolibrary.org/obo/HP_0000169							hposlim_core
HP:0000171	biolink:PhenotypicFeature	Microglossia	Decreased length and width of the tongue.	MSH:D014060|SNOMEDCT_US:249380003|SNOMEDCT_US:32614006|UMLS:C0025988|UMLS:C0426492	hp.json	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							hposlim_core
HP:0000172	biolink:PhenotypicFeature	Abnormal uvula morphology	Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.	UMLS:C4025885	hp.json	Abnormality of the uvula|Abnormality of palatine uvula	http://purl.obolibrary.org/obo/HP_0000172							hposlim_core
HP:0000174	biolink:PhenotypicFeature	Abnormal palate morphology	Any abnormality of the palate, i.e., of roof of the mouth.	UMLS:C4021815	hp.json	Abnormality of the palate|Abnormality of the roof of the mouth|Palatal anomaly|Palate abnormality	http://purl.obolibrary.org/obo/HP_0000174							hposlim_core
HP:0000175	biolink:PhenotypicFeature	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).	Fyler:4876|MSH:D002972|SNOMEDCT_US:63567004|SNOMEDCT_US:87979003|UMLS:C0008925|UMLS:C2981150	hp.json	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							hposlim_core
HP:0000176	biolink:PhenotypicFeature	Submucous cleft hard palate	Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.	SNOMEDCT_US:43437003|UMLS:C0432103|UMLS:C4020894	hp.json	Partial thickness cleft hard palate|Submucosal cleft palate|Submucous clefting	http://purl.obolibrary.org/obo/HP_0000176							
HP:0000177	biolink:PhenotypicFeature	Abnormality of upper lip	An abnormality of the upper lip.	UMLS:C4025884	hp.json	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							hposlim_core
HP:0000178	biolink:PhenotypicFeature	Abnormality of lower lip	An abnormality of the lower lip.	UMLS:C4025883	hp.json	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							hposlim_core
HP:0000179	biolink:PhenotypicFeature	Thick lower lip vermilion	Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).	UMLS:C1839739|UMLS:C2053437	hp.json	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							
HP:0000180	biolink:PhenotypicFeature	Lobulated tongue	Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.	SNOMEDCT_US:253752000|UMLS:C0431564	hp.json	Bumpy tongue|Lingual lobules|Lobulate tongue	http://purl.obolibrary.org/obo/HP_0000180							hposlim_core
HP:0000182	biolink:PhenotypicFeature	Movement abnormality of the tongue		UMLS:C4025882	hp.json	Movement abnormality of the tongue|Abnormality of lingual movement	http://purl.obolibrary.org/obo/HP_0000182							
HP:0000183	biolink:PhenotypicFeature	Difficulty in tongue movements		UMLS:C1853406|UMLS:C4280676	hp.json	Difficulty in tongue movements|Difficulty in lingual movements|Hypokinesia of the tongue|Lingual hypokinesia	http://purl.obolibrary.org/obo/HP_0000183							
HP:0000185	biolink:PhenotypicFeature	Cleft soft palate	Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.	MSH:C562950|SNOMEDCT_US:253997002|UMLS:C0432098	hp.json	Cleft muscular palate|Cleft of soft palate|Cleft velum	http://purl.obolibrary.org/obo/HP_0000185							
HP:0000187	biolink:PhenotypicFeature	Broad alveolar ridges		UMLS:C1857500|UMLS:C4280675	hp.json	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	biolink:PhenotypicFeature	Short upper lip	Decreased width of the upper lip.	UMLS:C1848977	hp.json	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							
HP:0000189	biolink:PhenotypicFeature	Narrow palate	Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).	UMLS:C1398312	hp.json	Narrow palate|Narrow roof of mouth|Decreased palatal width|Decreased transverse dimension of palate	http://purl.obolibrary.org/obo/HP_0000189							hposlim_core
HP:0000190	biolink:PhenotypicFeature	Abnormal oral frenulum morphology	An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.	UMLS:C4025881	hp.json	Abnormality of frenum of tongue|Abnormality of lingual frenum|Abnormality of oral frenula|Abnormality of oral frenum	http://purl.obolibrary.org/obo/HP_0000190							
HP:0000191	biolink:PhenotypicFeature	Accessory oral frenulum	Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.	UMLS:C4021814	hp.json	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							hposlim_core
HP:0000193	biolink:PhenotypicFeature	Bifid uvula	Uvula separated into two parts most easily seen at the tip.	SNOMEDCT_US:18910001|UMLS:C0266122	hp.json	Bifid palatine uvula|Cleft of uvula|Cleft uvula|Forked uvula|Split uvula|Uvula bifida	http://purl.obolibrary.org/obo/HP_0000193							hposlim_core
HP:0000194	biolink:PhenotypicFeature	Open mouth	A facial appearance characterized by a permanently or nearly permanently opened mouth.	SNOMEDCT_US:262016004|UMLS:C0240379	hp.json	Gaped jawed appearance|Gaped mouthed appearance|Open mouth|Slack jawed appearance|Open mouth appearance	http://purl.obolibrary.org/obo/HP_0000194							
HP:0000196	biolink:PhenotypicFeature	Lower lip pit	Depression located on the vermilion of the lower lip, usually paramedian.	UMLS:C1861544	hp.json		http://purl.obolibrary.org/obo/HP_0000196							
HP:0000197	biolink:PhenotypicFeature	Abnormal parotid gland morphology	Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.	UMLS:C4025880	hp.json	Abnormality of parotid gland|Anomaly of the parotid gland	http://purl.obolibrary.org/obo/HP_0000197							
HP:0000198	biolink:PhenotypicFeature	Absence of Stensen duct		UMLS:C1858569|UMLS:C4280674	hp.json	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	biolink:PhenotypicFeature	Tongue nodules		UMLS:C0241438	hp.json	Lingual nodules	http://purl.obolibrary.org/obo/HP_0000199							
HP:0000200	biolink:PhenotypicFeature	Short lingual frenulum	The presence of an abnormally short lingual frenulum.	SNOMEDCT_US:249388005|UMLS:C0426501|UMLS:C4280673	hp.json	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							
HP:0000201	biolink:PhenotypicFeature	Pierre-Robin sequence	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.	MSH:D010855|SNOMEDCT_US:4602007|UMLS:C0031900	hp.json	Pierre Robin sequence|Pierre-robin anomaly|Pierre-robin deformity|Pierre-robin malformation|Robin sequence	http://purl.obolibrary.org/obo/HP_0000201							
HP:0000202	biolink:PhenotypicFeature	Oral cleft	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.	SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C0158646|UMLS:C4021813	hp.json	Cleft of the mouth|Oral clefting|Cleft lip, cleft palate|Cleft lip/palate	http://purl.obolibrary.org/obo/HP_0000202							
HP:0000204	biolink:PhenotypicFeature	Cleft upper lip	A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.	Fyler:4875|MSH:D002971|SNOMEDCT_US:80281008|UMLS:C0008924	hp.json	Cleft upper lip|Harelip|Cleft of upper lip|Cheiloschisis of upper lip	http://purl.obolibrary.org/obo/HP_0000204							
HP:0000205	biolink:PhenotypicFeature	Pursed lips	An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.	UMLS:C1832130	hp.json	Pursed lips|Tightly closed lips	http://purl.obolibrary.org/obo/HP_0000205							
HP:0000206	biolink:PhenotypicFeature	Glossitis	Inflammation of the tongue.	MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675	hp.json	Inflammation of the tongue|Smooth swollen tongue|Lingual inflammation	http://purl.obolibrary.org/obo/HP_0000206							hposlim_core
HP:0000207	biolink:PhenotypicFeature	Triangular mouth	The presence of a triangular form of the mouth.	UMLS:C1849341	hp.json	Triangular mouth|Triangular shaped mouth|Triangular shaped oral aperture	http://purl.obolibrary.org/obo/HP_0000207							
HP:0000211	biolink:PhenotypicFeature	Trismus	Limitation in the ability to open the mouth.	MSH:D014313|SNOMEDCT_US:87866006|UMLS:C0041105|UMLS:C1848474|UMLS:C4228933|UMLS:C4280672	hp.json	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							
HP:0000212	biolink:PhenotypicFeature	Gingival overgrowth	Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.	MSH:D005885|MSH:D005886|MSH:D019214|SNOMEDCT_US:441787004|SNOMEDCT_US:441798003|SNOMEDCT_US:54711002|UMLS:C0017566|UMLS:C0017567|UMLS:C0376480	hp.json	Gum enlargement|Gingival enlargement|Gingival hyperplasia|Gum hypertrophy|Hypertrophic gingivitis|Oral soft tissue hyperplasia	http://purl.obolibrary.org/obo/HP_0000212							hposlim_core
HP:0000214	biolink:PhenotypicFeature	Lip telangiectasia	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.	UMLS:C1857697|UMLS:C4280670|UMLS:C4280671	hp.json	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							
HP:0000215	biolink:PhenotypicFeature	Thick upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).	UMLS:C1846423	hp.json	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							hposlim_core
HP:0000216	biolink:PhenotypicFeature	Broad secondary alveolar ridge		UMLS:C1839276	hp.json	Secondary alveolar ridges	http://purl.obolibrary.org/obo/HP_0000216							
HP:0000217	biolink:PhenotypicFeature	Xerostomia	Dryness of the mouth due to salivary gland dysfunction.	MSH:D014987|SNOMEDCT_US:300268000|SNOMEDCT_US:56893005|SNOMEDCT_US:87715008|UMLS:C0043352	hp.json	Decreased salivary flow|Dry mouth|Dry mouth syndrome|Reduced salivation	http://purl.obolibrary.org/obo/HP_0000217							hposlim_core
HP:0000218	biolink:PhenotypicFeature	High palate	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).	SNOMEDCT_US:27272007|UMLS:C0240635	hp.json	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							
HP:0000219	biolink:PhenotypicFeature	Thin upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).	UMLS:C1865017	hp.json	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							hposlim_core
HP:0000220	biolink:PhenotypicFeature	Velopharyngeal insufficiency	Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.	MSH:D014681|SNOMEDCT_US:229727006|SNOMEDCT_US:232416001|SNOMEDCT_US:278714002|UMLS:C0042454|UMLS:C4280669	hp.json	Velopharyngeal incompetence|Velopharyngeal dysfunction	http://purl.obolibrary.org/obo/HP_0000220							
HP:0000221	biolink:PhenotypicFeature	Furrowed tongue	Accentuation of the grooves on the dorsal surface of the tongue.	MSH:D014063|SNOMEDCT_US:52368004|UMLS:C0040412	hp.json	Grooved tongue|Fissured tongue|Lingual furrow|Lingue plicata|Plicated tongue|Prominent tongue grooves|Scrotal tongue	http://purl.obolibrary.org/obo/HP_0000221							hposlim_core
HP:0000222	biolink:PhenotypicFeature	Gingival hyperkeratosis	Hyperkeratosis of the gingiva.	UMLS:C1857013	hp.json	Hyperkeratosis, gingival	http://purl.obolibrary.org/obo/HP_0000222							
HP:0000223	biolink:PhenotypicFeature	Abnormality of taste sensation		UMLS:C4025879	hp.json	Abnormality of taste sensation	http://purl.obolibrary.org/obo/HP_0000223							
HP:0000224	biolink:PhenotypicFeature	Hypogeusia	A decreased ability to perceive flavor.	MSH:D000370|SNOMEDCT_US:697990000|UMLS:C0151934	hp.json	Decreased taste|Decreased taste sensation	http://purl.obolibrary.org/obo/HP_0000224							
HP:0000225	biolink:PhenotypicFeature	Gingival bleeding	Hemorrhage affecting the gingiva.	MSH:D005884|SNOMEDCT_US:86276007|UMLS:C0017565	hp.json	Bleeding gums|Gingival haemorrhage|Gingival hemorrhage|Gingivorrhagia	http://purl.obolibrary.org/obo/HP_0000225							
HP:0000227	biolink:PhenotypicFeature	Tongue telangiectasia	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.	UMLS:C4025878|UMLS:C4280668	hp.json	Spider veins of the tongue|Lingual telangiectasia|Angioectasias of the tongue|Lingual angioectasias	http://purl.obolibrary.org/obo/HP_0000227							
HP:0000228	biolink:PhenotypicFeature	Oral cavity telangiectasia	Presence of telangiectases in the oral cavity.	UMLS:C4025877|UMLS:C4280667	hp.json	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							
HP:0000230	biolink:PhenotypicFeature	Gingivitis	Inflammation of the gingiva.	MSH:D005891|SNOMEDCT_US:66383009|UMLS:C0017574	hp.json	Inflamed gums|Red and swollen gums|Gingival inflammation	http://purl.obolibrary.org/obo/HP_0000230							hposlim_core
HP:0000232	biolink:PhenotypicFeature	Everted lower lip vermilion	An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.	UMLS:C1853246|UMLS:C1866234	hp.json	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							hposlim_core
HP:0000233	biolink:PhenotypicFeature	Thin vermilion border	Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).	SNOMEDCT_US:301348000|UMLS:C0578038	hp.json	Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermillion|Thin vermilion borders	http://purl.obolibrary.org/obo/HP_0000233							
HP:0000234	biolink:PhenotypicFeature	Abnormality of the head	An abnormality of the head.	UMLS:C4021812	hp.json	Abnormal head|Abnormality of the head|Head abnormality	http://purl.obolibrary.org/obo/HP_0000234							
HP:0000235	biolink:PhenotypicFeature	Abnormality of the fontanelles or cranial sutures	Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).	UMLS:C4025876	hp.json		http://purl.obolibrary.org/obo/HP_0000235							
HP:0000236	biolink:PhenotypicFeature	Abnormality of the anterior fontanelle	An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.	UMLS:C4025875	hp.json	Abnormality of the forehead soft spot	http://purl.obolibrary.org/obo/HP_0000236							
HP:0000237	biolink:PhenotypicFeature	Small anterior fontanelle	Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.	UMLS:C1859455	hp.json	Small anterior fontanel|Small forehead fontanel	http://purl.obolibrary.org/obo/HP_0000237							
HP:0000238	biolink:PhenotypicFeature	Hydrocephalus	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.	MSH:D006849|SNOMEDCT_US:230745008|UMLS:C0020255	hp.json	Too much cerebrospinal fluid in the brain|Hydrocephaly|Nonsyndromal hydrocephalus	http://purl.obolibrary.org/obo/HP_0000238							
HP:0000239	biolink:PhenotypicFeature	Large fontanelles	In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.	SNOMEDCT_US:276709006|UMLS:C0456132|UMLS:C4072820|UMLS:C4072821|UMLS:C4072822	hp.json	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							
HP:0000240	biolink:PhenotypicFeature	Abnormality of skull size	Any abnormality of the size of the skull.	UMLS:C4025874	hp.json	Abnormality of head size|Abnormality of skull size|Abnormality of cranium size	http://purl.obolibrary.org/obo/HP_0000240							
HP:0000242	biolink:PhenotypicFeature	Parietal bossing	Parietal bossing is a marked prominence in the parietal region.	UMLS:C1857126	hp.json	Biparietal bossing|Bossing of parietal bone	http://purl.obolibrary.org/obo/HP_0000242							
HP:0000243	biolink:PhenotypicFeature	Trigonocephaly	Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.	MSH:D003398|SNOMEDCT_US:28740008|UMLS:C0265535|UMLS:C4280665|UMLS:C4280666	hp.json	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							hposlim_core
HP:0000244	biolink:PhenotypicFeature	Brachyturricephaly	Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.	UMLS:C1857484	hp.json	High, prominent forehead|Brachy-turricephaly|Turribrachycephaly	http://purl.obolibrary.org/obo/HP_0000244							
HP:0000245	biolink:PhenotypicFeature	Abnormal paranasal sinus morphology	Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.	UMLS:C4025873	hp.json	Abnormality of the sinuses|Abnormality of the sinuses of the head|Abnormality of the paranasal sinuses	http://purl.obolibrary.org/obo/HP_0000245							
HP:0000246	biolink:PhenotypicFeature	Sinusitis	Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.	MSH:D010254|MSH:D012852|SNOMEDCT_US:36971009|SNOMEDCT_US:7393007|UMLS:C0030469|UMLS:C0037199	hp.json	Sinus infection|Sinus inflammation|Sinus disease	http://purl.obolibrary.org/obo/HP_0000246							hposlim_core
HP:0000248	biolink:PhenotypicFeature	Brachycephaly	An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.	MSH:D003398|SNOMEDCT_US:13649004|UMLS:C0221356|UMLS:C4072823|UMLS:C4072824	hp.json	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							hposlim_core
HP:0000250	biolink:PhenotypicFeature	Dense calvaria	An abnormal increase of density of the bones making up the calvaria.	UMLS:C1854834	hp.json	Dense skull cap	http://purl.obolibrary.org/obo/HP_0000250							
HP:0000252	biolink:PhenotypicFeature	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.	Fyler:4310|SNOMEDCT_US:271611007|UMLS:C4551563	hp.json	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							hposlim_core
HP:0000253	biolink:PhenotypicFeature	Progressive microcephaly	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.	UMLS:C1850456	hp.json	Progressively abnormally small cranium|Progressively abnormally small skull|Microcephaly, postnatal, progressive|Microcephaly, progressive	http://purl.obolibrary.org/obo/HP_0000253							
HP:0000255	biolink:PhenotypicFeature	Acute sinusitis	An acute form of sinusitis.	SNOMEDCT_US:15805002|UMLS:C0149512	hp.json		http://purl.obolibrary.org/obo/HP_0000255							
HP:0000256	biolink:PhenotypicFeature	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.	Fyler:4335|UMLS:C4083076|UMLS:C4255213|UMLS:C4280663|UMLS:C4280664	hp.json	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							hposlim_core
HP:0000260	biolink:PhenotypicFeature	Wide anterior fontanel	Enlargement of the anterior fontanelle with respect to age-dependent norms.	UMLS:C1866134	hp.json	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							
HP:0000262	biolink:PhenotypicFeature	Turricephaly	Tall head relative to width and length.	MSH:D003398|SNOMEDCT_US:48069004|UMLS:C0030044	hp.json	Tall shaped head|Tall shaped skull|Tower skull shape|Tall shaped cranium|Tower cranium shape	http://purl.obolibrary.org/obo/HP_0000262							hposlim_core
HP:0000263	biolink:PhenotypicFeature	Oxycephaly	Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.	MSH:D003398	hp.json	Acrocephaly	http://purl.obolibrary.org/obo/HP_0000263							
HP:0000264	biolink:PhenotypicFeature	Abnormality of the mastoid	An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.	UMLS:C4025872	hp.json	Abnormality of mastoid process of temporal bone	http://purl.obolibrary.org/obo/HP_0000264							hposlim_core
HP:0000265	biolink:PhenotypicFeature	Mastoiditis		MSH:D008417|SNOMEDCT_US:52404001|UMLS:C0024904	hp.json		http://purl.obolibrary.org/obo/HP_0000265							
HP:0000267	biolink:PhenotypicFeature	Cranial asymmetry	Asymmetry of the bones of the skull.	UMLS:C1860245|UMLS:C4280258|UMLS:C4280657|UMLS:C4280658|UMLS:C4280659|UMLS:C4280660|UMLS:C4280661|UMLS:C4280662	hp.json	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							
HP:0000268	biolink:PhenotypicFeature	Dolichocephaly	An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.	SNOMEDCT_US:72239002|UMLS:C0221358|UMLS:C4280653|UMLS:C4280654|UMLS:C4280655|UMLS:C4280656	hp.json	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							hposlim_core
HP:0000269	biolink:PhenotypicFeature	Prominent occiput	Increased convexity of the occiput (posterior part of the skull).	UMLS:C1853737|UMLS:C4280652	hp.json	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							hposlim_core
HP:0000270	biolink:PhenotypicFeature	Delayed cranial suture closure	Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.	SNOMEDCT_US:82779003|UMLS:C0277828	hp.json	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							
HP:0000271	biolink:PhenotypicFeature	Abnormality of the face	An abnormality of the face.	SNOMEDCT_US:118930001|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004|UMLS:C0266617|UMLS:C1290857|UMLS:C4025871	hp.json	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							hposlim_core
HP:0000272	biolink:PhenotypicFeature	Malar flattening	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.	UMLS:C1858085|UMLS:C4280651	hp.json	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							hposlim_core
HP:0000273	biolink:PhenotypicFeature	Facial grimacing		SNOMEDCT_US:37126005|UMLS:C0234853	hp.json	Facial grimacing	http://purl.obolibrary.org/obo/HP_0000273							
HP:0000274	biolink:PhenotypicFeature	Small face	A face that is short (HP:0011219) and narrow (HP:0000275).	UMLS:C1855538	hp.json	Short and narrow face|Small face|Small facies|Facial hypoplasia|Hypoplasia of face|Microface|Microfacies	http://purl.obolibrary.org/obo/HP_0000274							
HP:0000275	biolink:PhenotypicFeature	Narrow face	Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).	UMLS:C1837463|UMLS:C1849121	hp.json	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							hposlim_core
HP:0000276	biolink:PhenotypicFeature	Long face	Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).	UMLS:C1836047	hp.json	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							hposlim_core
HP:0000277	biolink:PhenotypicFeature	Abnormality of the mandible	Any abnormality of the mandible, the bone of the lower jaw.	UMLS:C4025870	hp.json	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							hposlim_core
HP:0000278	biolink:PhenotypicFeature	Retrognathia	An abnormality in which the mandible is mislocalised posteriorly.	MSH:D063173|UMLS:C3494422	hp.json	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							hposlim_core
HP:0000280	biolink:PhenotypicFeature	Coarse facial features	Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.	UMLS:C1845847|UMLS:C4072825	hp.json	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							hposlim_core
HP:0000282	biolink:PhenotypicFeature	Facial edema		SNOMEDCT_US:445088006|UMLS:C0542571	hp.json	Facial puffiness|Facial swelling|Facial oedema	http://purl.obolibrary.org/obo/HP_0000282							
HP:0000283	biolink:PhenotypicFeature	Broad face	Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).	UMLS:C1859680	hp.json	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							hposlim_core
HP:0000284	biolink:PhenotypicFeature	obsolete Abnormality of the ocular region			hp.json		http://purl.obolibrary.org/obo/HP_0000284							
HP:0000286	biolink:PhenotypicFeature	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.	UMLS:C0678230	hp.json	Eye folds|Prominent eye folds|Epicanthal fold|Epicanthal folds|Epicanthic folds|Palpebronasal fold|Plica palpebronasalis	http://purl.obolibrary.org/obo/HP_0000286							hposlim_core
HP:0000287	biolink:PhenotypicFeature	Increased facial adipose tissue	An increased amount of subcutaneous fat tissue in the face.	UMLS:C4025868|UMLS:C4280649|UMLS:C4280650	hp.json	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							
HP:0000288	biolink:PhenotypicFeature	Abnormality of the philtrum	An abnormality of the philtrum.	UMLS:C1857045	hp.json	Abnormal philtrum|Abnormality of the infranasal depression|Abnormality of the paralabial region	http://purl.obolibrary.org/obo/HP_0000288							hposlim_core
HP:0000289	biolink:PhenotypicFeature	Broad philtrum	Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.	UMLS:C1854111	hp.json	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							hposlim_core
HP:0000290	biolink:PhenotypicFeature	Abnormality of the forehead	An anomaly of the forehead.	UMLS:C4025867	hp.json	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							hposlim_core
HP:0000291	biolink:PhenotypicFeature	Abnormality of facial adipose tissue		UMLS:C4025866	hp.json	Abnormality of facial fat|Deformity of facial adipose tissue|Malformation of facial adipose tissue	http://purl.obolibrary.org/obo/HP_0000291							
HP:0000292	biolink:PhenotypicFeature	Loss of facial adipose tissue	Loss of normal subcutaneous fat tissue in the face.	UMLS:C1837767	hp.json	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							
HP:0000293	biolink:PhenotypicFeature	Full cheeks	Increased prominence or roundness of soft tissues between zygomata and mandible.	UMLS:C1866231|UMLS:C2748653|UMLS:C3806443|UMLS:C4280647|UMLS:C4280648	hp.json	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							hposlim_core
HP:0000294	biolink:PhenotypicFeature	Low anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.	UMLS:C1842366	hp.json	Low frontal hairline|Low-set frontal hairline	http://purl.obolibrary.org/obo/HP_0000294							hposlim_core
HP:0000295	biolink:PhenotypicFeature	Doll-like facies	A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.	UMLS:C1856361	hp.json	Doll-like facial appearance	http://purl.obolibrary.org/obo/HP_0000295							
HP:0000297	biolink:PhenotypicFeature	Facial hypotonia	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	UMLS:C1845251|UMLS:C4280646	hp.json	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							
HP:0000298	biolink:PhenotypicFeature	Mask-like facies	A lack of facial expression often with staring eyes and a slightly open mouth.	SNOMEDCT_US:103606006|UMLS:C0424448	hp.json	Expressionless face|Lack of facial expression|Mask-like facial appearance|Amimia|Masklike facies	http://purl.obolibrary.org/obo/HP_0000298							
HP:0000300	biolink:PhenotypicFeature	Oval face	A face with a rounded and slightly elongated outline.	UMLS:C1849025	hp.json	Oval face|Oval facial shape|Oval facies	http://purl.obolibrary.org/obo/HP_0000300							
HP:0000301	biolink:PhenotypicFeature	Abnormality of facial musculature	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	UMLS:C4025865	hp.json	Abnormality of facial muscles|Facial muscle issue	http://purl.obolibrary.org/obo/HP_0000301							
HP:0000303	biolink:PhenotypicFeature	Mandibular prognathia	Abnormal prominence of the chin related to increased length of the mandible.	MSH:D008313|SNOMEDCT_US:109504005|SNOMEDCT_US:22810007|UMLS:C0302501|UMLS:C0399526|UMLS:C2227134|UMLS:C4280644|UMLS:C4280645	hp.json	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							hposlim_core
HP:0000306	biolink:PhenotypicFeature	Abnormality of the chin	An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.	UMLS:C4025864	hp.json	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							hposlim_core
HP:0000307	biolink:PhenotypicFeature	Pointed chin	A marked tapering of the lower face to the chin.	UMLS:C1844505	hp.json	Pointed chin|Pointy chin|Small pointed chin|Witch's chin|Pointed mention region	http://purl.obolibrary.org/obo/HP_0000307							hposlim_core
HP:0000308	biolink:PhenotypicFeature	Microretrognathia	A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.	UMLS:C1839546	hp.json	Small retruded chin|Retromicrognathia	http://purl.obolibrary.org/obo/HP_0000308							
HP:0000309	biolink:PhenotypicFeature	Abnormality of the midface	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.	UMLS:C4021811	hp.json	Abnormality of the midface|Deformity of the midface|Malformation of the midface|Anomaly of the midface	http://purl.obolibrary.org/obo/HP_0000309							
HP:0000311	biolink:PhenotypicFeature	Round face	The facial appearance is more circular than usual as viewed from the front.	UMLS:C0239479|UMLS:C1856468	hp.json	Circular face|Round face|Round facial appearance|Round facial shape|Round, full face|Round facies	http://purl.obolibrary.org/obo/HP_0000311							hposlim_core
HP:0000315	biolink:PhenotypicFeature	Abnormality of the orbital region		UMLS:C4025863	hp.json	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	biolink:PhenotypicFeature	Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).	MSH:D006972|SNOMEDCT_US:194021007|SNOMEDCT_US:22006008|UMLS:C0020534	hp.json	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							hposlim_core
HP:0000317	biolink:PhenotypicFeature	Facial myokymia	Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	MSH:D005155|SNOMEDCT_US:1070000|UMLS:C0270871	hp.json	Involuntary facial quivering|Involuntary facial contraction	http://purl.obolibrary.org/obo/HP_0000317							
HP:0000319	biolink:PhenotypicFeature	Smooth philtrum	Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.	UMLS:C1142533	hp.json	Decreased depth of philtrum|Flat philtrum|Indistinct philtrum|Philtrum, smooth|Shallow philtrum|Simple philtrum	http://purl.obolibrary.org/obo/HP_0000319							
HP:0000320	biolink:PhenotypicFeature	Bird-like facies		UMLS:C1837758	hp.json	Bird-like facial appearance	http://purl.obolibrary.org/obo/HP_0000320							
HP:0000321	biolink:PhenotypicFeature	Square face	Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.	UMLS:C1832127	hp.json	Square face|Square facial shape|Square facies	http://purl.obolibrary.org/obo/HP_0000321							
HP:0000322	biolink:PhenotypicFeature	Short philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.	UMLS:C1861324	hp.json	Decreased height of philtrum|Decreased length of philtrum|Decreased vertical dimension of philtrum|Vertical hypoplasia of philtrum	http://purl.obolibrary.org/obo/HP_0000322							hposlim_core
HP:0000324	biolink:PhenotypicFeature	Facial asymmetry	An abnormal difference between the left and right sides of the face.	MSH:D005146|SNOMEDCT_US:15253005|UMLS:C1306710	hp.json	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							hposlim_core
HP:0000325	biolink:PhenotypicFeature	Triangular face	Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.	UMLS:C1835884	hp.json	Face with broad temples and narrow chin|Triangular face|Triangular facial shape|Triangular facies	http://purl.obolibrary.org/obo/HP_0000325							hposlim_core
HP:0000326	biolink:PhenotypicFeature	Abnormality of the maxilla	An abnormality of the Maxilla (upper jaw bone).	UMLS:C4025862	hp.json	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							hposlim_core
HP:0000327	biolink:PhenotypicFeature	Hypoplasia of the maxilla	Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.	UMLS:C0240310|UMLS:C4082243|UMLS:C4280640|UMLS:C4280641|UMLS:C4280642|UMLS:C4280643	hp.json	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							hposlim_core
HP:0000329	biolink:PhenotypicFeature	Facial hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.	UMLS:C1861443	hp.json	Facial hemangiomata	http://purl.obolibrary.org/obo/HP_0000329							
HP:0000331	biolink:PhenotypicFeature	Short chin	Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.	SNOMEDCT_US:699439001|UMLS:C1839323|UMLS:C3697248	hp.json	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							
HP:0000336	biolink:PhenotypicFeature	Prominent supraorbital ridges	Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.	UMLS:C1842060|UMLS:C4280636|UMLS:C4280637|UMLS:C4280638|UMLS:C4280639	hp.json	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							hposlim_core
HP:0000337	biolink:PhenotypicFeature	Broad forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.	UMLS:C1849089	hp.json	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							hposlim_core
HP:0000338	biolink:PhenotypicFeature	Hypomimic face	A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.	SNOMEDCT_US:248149005|UMLS:C0813217|UMLS:C1862474|UMLS:C4280635	hp.json	Dull facial expression|Decreased facial expressions|Decreased facial muscle movement|Hypomimia	http://purl.obolibrary.org/obo/HP_0000338							
HP:0000339	biolink:PhenotypicFeature	Pugilistic facies	Coarse facial features reminiscent of those of a boxer.	UMLS:C1846011	hp.json	Boxer-like facial appearance|Pugilistic facial appearance	http://purl.obolibrary.org/obo/HP_0000339							
HP:0000340	biolink:PhenotypicFeature	Sloping forehead	Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.	UMLS:C1857679	hp.json	Inclined forehead|Receding forehead|Sloping forehead|Posteriorly sloping forehead	http://purl.obolibrary.org/obo/HP_0000340							hposlim_core
HP:0000341	biolink:PhenotypicFeature	Narrow forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).	UMLS:C1839758	hp.json	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							hposlim_core
HP:0000343	biolink:PhenotypicFeature	Long philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.	UMLS:C1865014	hp.json	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							hposlim_core
HP:0000346	biolink:PhenotypicFeature	Whistling appearance	An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.	UMLS:C1848473	hp.json	Whistling appearance|Whistling facial appearance	http://purl.obolibrary.org/obo/HP_0000346							
HP:0000347	biolink:PhenotypicFeature	Micrognathia	Developmental hypoplasia of the mandible.	Fyler:4163|MSH:D008844|SNOMEDCT_US:32958008|UMLS:C0025990|UMLS:C0240295|UMLS:C1857130	hp.json	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							hposlim_core
HP:0000348	biolink:PhenotypicFeature	High forehead	An abnormally increased height of the forehead.	UMLS:C0239676|UMLS:C2677762	hp.json	High forehead|Tall forehead	http://purl.obolibrary.org/obo/HP_0000348							
HP:0000349	biolink:PhenotypicFeature	Widow's peak	Frontal hairline with bilateral arcs to a low point in the midline of the forehead.	UMLS:C1853486	hp.json	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							hposlim_core
HP:0000350	biolink:PhenotypicFeature	Small forehead	The presence of a forehead that is abnormally small.	UMLS:C1845250|UMLS:C4280633|UMLS:C4280634	hp.json	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							
HP:0000356	biolink:PhenotypicFeature	Abnormality of the outer ear	An abnormality of the external ear.	SNOMEDCT_US:275259005|UMLS:C0266589|UMLS:C1846460	hp.json	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							
HP:0000357	biolink:PhenotypicFeature	Abnormal location of ears	Abnormal location of the ear.	UMLS:C4021810	hp.json	Abnormal location of ears|External ear position defect	http://purl.obolibrary.org/obo/HP_0000357							
HP:0000358	biolink:PhenotypicFeature	Posteriorly rotated ears	A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).	SNOMEDCT_US:253251006|UMLS:C0431478	hp.json	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							hposlim_core
HP:0000359	biolink:PhenotypicFeature	Abnormality of the inner ear	An abnormality of the inner ear.	UMLS:C4021809	hp.json	Abnormality of the inner ear|Inner ear abnormality	http://purl.obolibrary.org/obo/HP_0000359							
HP:0000360	biolink:PhenotypicFeature	Tinnitus	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.	MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001|UMLS:C0040264	hp.json	Ringing in ears|Ringing in the ears	http://purl.obolibrary.org/obo/HP_0000360							hposlim_core
HP:0000361	biolink:PhenotypicFeature	obsolete Pulsatile tinnitus (tympanic paraganglioma)			hp.json		http://purl.obolibrary.org/obo/HP_0000361							
HP:0000362	biolink:PhenotypicFeature	Otosclerosis	In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.	MSH:D010040|SNOMEDCT_US:11543004|UMLS:C0029899	hp.json		http://purl.obolibrary.org/obo/HP_0000362							hposlim_core
HP:0000363	biolink:PhenotypicFeature	Abnormality of earlobe	An abnormality of the lobule of pinna.	UMLS:C4021808	hp.json	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							hposlim_core
HP:0000364	biolink:PhenotypicFeature	Hearing abnormality	An abnormality of the sensory perception of sound.	UMLS:C4025860	hp.json	Abnormal hearing|Hearing abnormality	http://purl.obolibrary.org/obo/HP_0000364							
HP:0000365	biolink:PhenotypicFeature	Hearing impairment	A decreased magnitude of the sensory perception of sound.	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	hp.json	Deafness|Hearing defect|Hearing impairment|Hearing loss|Hypacusis|Hypoacusis	http://purl.obolibrary.org/obo/HP_0000365							
HP:0000366	biolink:PhenotypicFeature	Abnormality of the nose	An abnormality of the nose.	SNOMEDCT_US:128274005|SNOMEDCT_US:72089000|UMLS:C0240547|UMLS:C0265736|UMLS:C2235909	hp.json	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							hposlim_core
HP:0000368	biolink:PhenotypicFeature	Low-set, posteriorly rotated ears	Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).	UMLS:C1857486	hp.json	Low-set posteriorly rotated ears	http://purl.obolibrary.org/obo/HP_0000368							
HP:0000369	biolink:PhenotypicFeature	Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.	SNOMEDCT_US:95515009|UMLS:C0239234	hp.json	Low set ears|Low-set ears|Lowset ears|Melotia	http://purl.obolibrary.org/obo/HP_0000369							hposlim_core
HP:0000370	biolink:PhenotypicFeature	Abnormality of the middle ear	An abnormality of the middle ear.	UMLS:C1861141	hp.json	Middle ear abnormalities|Middle ear abnormality	http://purl.obolibrary.org/obo/HP_0000370							hposlim_core
HP:0000371	biolink:PhenotypicFeature	Acute otitis media	Acute otitis media is a short and generally painful infection of the middle ear.	SNOMEDCT_US:3110003|UMLS:C0271429	hp.json	Acute middle ear infection	http://purl.obolibrary.org/obo/HP_0000371							
HP:0000372	biolink:PhenotypicFeature	Abnormality of the auditory canal	An abnormality of the External acoustic tube (also known as the auditory canal).	UMLS:C4021807	hp.json	Auditory canal abnormality	http://purl.obolibrary.org/obo/HP_0000372							
HP:0000375	biolink:PhenotypicFeature	Abnormal cochlea morphology	An abnormality of the cochlea.	UMLS:C4025858	hp.json	Abnormality of cochlea	http://purl.obolibrary.org/obo/HP_0000375							
HP:0000376	biolink:PhenotypicFeature	Incomplete partition of the cochlea type II	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.	UMLS:C1857078|UMLS:C4025857	hp.json	Mondini malformation	http://purl.obolibrary.org/obo/HP_0000376							
HP:0000377	biolink:PhenotypicFeature	Abnormality of the pinna	An abnormality of the pinna, which is also referred to as the auricle or external ear.	SNOMEDCT_US:253255002|UMLS:C0431483|UMLS:C0857379	hp.json	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							
HP:0000378	biolink:PhenotypicFeature	Cupped ear	Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).	UMLS:C1845447|UMLS:C4020892	hp.json	Cup-shaped ears|Cupped ear|Simple, cup-shaped ears|Capuchin ears|Cupped ears	http://purl.obolibrary.org/obo/HP_0000378							hposlim_core
HP:0000381	biolink:PhenotypicFeature	Stapes ankylosis	Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).	UMLS:C1861326	hp.json		http://purl.obolibrary.org/obo/HP_0000381							hposlim_core
HP:0000383	biolink:PhenotypicFeature	Abnormality of periauricular region		UMLS:C4025856	hp.json	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	biolink:PhenotypicFeature	Preauricular skin tag	A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).	UMLS:C1860816|UMLS:C4072826	hp.json	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							
HP:0000385	biolink:PhenotypicFeature	Small earlobe	Reduced volume of the earlobe.	UMLS:C1842680	hp.json	Small earlobe|Small earlobes|Hypoplastic earlobes|Hypoplastic lobules	http://purl.obolibrary.org/obo/HP_0000385							hposlim_core
HP:0000387	biolink:PhenotypicFeature	Absent earlobe	Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.	UMLS:C1849364	hp.json	Absent earlobe|Earlobe, absent|Lobeless ears|Absent ear lobes	http://purl.obolibrary.org/obo/HP_0000387							hposlim_core
HP:0000388	biolink:PhenotypicFeature	Otitis media	Inflammation or infection of the middle ear.	MSH:D010033|SNOMEDCT_US:65363002|UMLS:C0029882	hp.json	Middle ear infection	http://purl.obolibrary.org/obo/HP_0000388							
HP:0000389	biolink:PhenotypicFeature	Chronic otitis media	Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.	SNOMEDCT_US:21186006|UMLS:C0271441|UMLS:C0743359	hp.json	Chronic infections of the middle ear|Chronic middle ear infection|Otitis media, chronic|Chronic ear infection	http://purl.obolibrary.org/obo/HP_0000389							hposlim_core
HP:0000391	biolink:PhenotypicFeature	Thickened helices	Increased thickness of the helix of the ear.	UMLS:C1837732	hp.json	Thick helix	http://purl.obolibrary.org/obo/HP_0000391							hposlim_core
HP:0000394	biolink:PhenotypicFeature	Lop ear	Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.	SNOMEDCT_US:76223006|UMLS:C0266614	hp.json		http://purl.obolibrary.org/obo/HP_0000394							hposlim_core
HP:0000395	biolink:PhenotypicFeature	Prominent antihelix	The presence of an abnormally prominent antihelix.	UMLS:C1845272	hp.json		http://purl.obolibrary.org/obo/HP_0000395							hposlim_core
HP:0000396	biolink:PhenotypicFeature	Overfolded helix	A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.	UMLS:C1837731	hp.json	Overfolded ears|Over-folded helices|Overfolded helices	http://purl.obolibrary.org/obo/HP_0000396							hposlim_core
HP:0000399	biolink:PhenotypicFeature	Prelingual sensorineural hearing impairment	A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.	UMLS:C4021806	hp.json	Deafness, sensorineural, prelingual|Prelingual sensorineural deafness	http://purl.obolibrary.org/obo/HP_0000399							
HP:0000400	biolink:PhenotypicFeature	Macrotia	Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).	SNOMEDCT_US:275480001|SNOMEDCT_US:69056000|UMLS:C0152421|UMLS:C0554972|UMLS:C1835581|UMLS:C1848570|UMLS:C1850189|UMLS:C1855062|UMLS:C1860838	hp.json	Large ears|Large pinnae	http://purl.obolibrary.org/obo/HP_0000400							hposlim_core
HP:0000402	biolink:PhenotypicFeature	Stenosis of the external auditory canal	An abnormal narrowing of the external auditory canal.	SNOMEDCT_US:300127002|SNOMEDCT_US:301061006|UMLS:C0395837|UMLS:C0576860	hp.json	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							hposlim_core
HP:0000403	biolink:PhenotypicFeature	Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.	UMLS:C0747085	hp.json	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							
HP:0000405	biolink:PhenotypicFeature	Conductive hearing impairment	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.	MSH:D006314|SNOMEDCT_US:44057004|UMLS:C0018777	hp.json	Conductive deafness|Conductive hearing loss|Conduction deafness|Hearing loss, conductive	http://purl.obolibrary.org/obo/HP_0000405							hposlim_core
HP:0000407	biolink:PhenotypicFeature	Sensorineural hearing impairment	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.	MSH:D006319|SNOMEDCT_US:60700002|UMLS:C0018784	hp.json	Hearing loss, sensorineural|Sensorineural deafness|Sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0000407							hposlim_core
HP:0000408	biolink:PhenotypicFeature	Progressive sensorineural hearing impairment	A progressive form of sensorineural hearing impairment.	UMLS:C1843156	hp.json	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							
HP:0000410	biolink:PhenotypicFeature	Mixed hearing impairment	A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.	MSH:D046089|SNOMEDCT_US:77507001|UMLS:C0155552	hp.json	Hearing loss, mixed|Mixed hearing impairment|Mixed hearing loss	http://purl.obolibrary.org/obo/HP_0000410							
HP:0000411	biolink:PhenotypicFeature	Protruding ear	Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).	SNOMEDCT_US:275478007|UMLS:C1305420|UMLS:C1855285	hp.json	Prominent ear|Prominent ears|Protruding ears	http://purl.obolibrary.org/obo/HP_0000411							
HP:0000413	biolink:PhenotypicFeature	Atresia of the external auditory canal	Absence or failure to form of the external auditory canal.	UMLS:C1398325|UMLS:C1840305|UMLS:C1857079|UMLS:C1866190	hp.json	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							hposlim_core
HP:0000414	biolink:PhenotypicFeature	Bulbous nose	Increased volume and globular shape of the anteroinferior aspect of the nose.	MSH:C538354|UMLS:C0240543|UMLS:C1834118|UMLS:C1855751	hp.json	Bulbous nose|Potato nose|Bulbous nasal tip	http://purl.obolibrary.org/obo/HP_0000414							
HP:0000415	biolink:PhenotypicFeature	Abnormality of the choanae	Abnormality of the choanae (the posterior nasal apertures).	UMLS:C4025855	hp.json		http://purl.obolibrary.org/obo/HP_0000415							
HP:0000417	biolink:PhenotypicFeature	Slender nose		UMLS:C1857645	hp.json	Slender nose	http://purl.obolibrary.org/obo/HP_0000417							
HP:0000418	biolink:PhenotypicFeature	Narrow nasal ridge	Decreased width of the nasal ridge.	UMLS:C1837761	hp.json	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							
HP:0000419	biolink:PhenotypicFeature	Abnormality of the nasal septum	An abnormality of the nasal septum.	SNOMEDCT_US:95433000|UMLS:C0151790	hp.json	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							hposlim_core
HP:0000420	biolink:PhenotypicFeature	Short nasal septum	Reduced superior to inferior length of the nasal septum.	UMLS:C1844857	hp.json	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							hposlim_core
HP:0000421	biolink:PhenotypicFeature	Epistaxis	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.	COHD:318556|EFO:0003895|ICD10:R04.0|ICD9:784.7|MSH:D004844|NCIT:C26766|SNOMEDCT_US:12441001|SNOMEDCT_US:249366005|UMLS:C0014591	hp.json	Bloody nose|Frequent nosebleeds|Nose bleed|Nose bleeding|Nosebleed|Nasal haemorrhage|Nasal hemorrhage	http://purl.obolibrary.org/obo/HP_0000421							
HP:0000422	biolink:PhenotypicFeature	Abnormal nasal bridge morphology	Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.	UMLS:C4021805	hp.json	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							hposlim_core
HP:0000426	biolink:PhenotypicFeature	Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.	UMLS:C1854113|UMLS:C4230640	hp.json	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							
HP:0000429	biolink:PhenotypicFeature	Abnormality of the nasal alae	An abnormality of the Ala of nose.	UMLS:C2227020|UMLS:C4021804|UMLS:C4280631|UMLS:C4280632	hp.json	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							hposlim_core
HP:0000430	biolink:PhenotypicFeature	Underdeveloped nasal alae	Thinned, deficient, or excessively arched ala nasi.	UMLS:C1834055	hp.json	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							hposlim_core
HP:0000431	biolink:PhenotypicFeature	Wide nasal bridge	Increased breadth of the nasal bridge (and with it, the nasal root).	SNOMEDCT_US:249321001|UMLS:C1839764|UMLS:C1849367	hp.json	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							
HP:0000433	biolink:PhenotypicFeature	Abnormal nasal mucosa morphology		UMLS:C4025854	hp.json	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	biolink:PhenotypicFeature	Nasal mucosa telangiectasia	Telangiectasia of the nasal mucosa.	UMLS:C4025853	hp.json	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							
HP:0000436	biolink:PhenotypicFeature	Abnormality of the nasal tip	An abnormality of the nasal tip.	UMLS:C4025852	hp.json	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							hposlim_core
HP:0000437	biolink:PhenotypicFeature	Depressed nasal tip	Decreased distance from the nasal tip to the nasal base.	UMLS:C1859717	hp.json	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							hposlim_core
HP:0000444	biolink:PhenotypicFeature	Convex nasal ridge	Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.	UMLS:C0240538	hp.json	Beaked nose|Beaklike protrusion|Hooked nose|Polly beak nasal deformity|Convex dorsum of nose|Convex nasal dorsum	http://purl.obolibrary.org/obo/HP_0000444							hposlim_core
HP:0000445	biolink:PhenotypicFeature	Wide nose	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.	SNOMEDCT_US:249321001|UMLS:C0426421	hp.json	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							hposlim_core
HP:0000446	biolink:PhenotypicFeature	Narrow nasal bridge	Decreased width of the bony bridge of the nose.	UMLS:C4551564	hp.json	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							hposlim_core
HP:0000447	biolink:PhenotypicFeature	Pear-shaped nose		UMLS:C1853482	hp.json	Pear-shaped nose	http://purl.obolibrary.org/obo/HP_0000447							
HP:0000448	biolink:PhenotypicFeature	Prominent nose	Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.	SNOMEDCT_US:249311009|UMLS:C0426415|UMLS:C1400105|UMLS:C4280629	hp.json	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							hposlim_core
HP:0000451	biolink:PhenotypicFeature	Triangular nasal tip		UMLS:C1839765	hp.json	Triangular nasal tip|Triangular shaped tip of nose	http://purl.obolibrary.org/obo/HP_0000451							
HP:0000452	biolink:PhenotypicFeature	Choanal stenosis	Abnormal narrowing of the choana (the posterior nasal aperture).	SNOMEDCT_US:306963008|UMLS:C0584837	hp.json	Narrowing of the rear opening of the nasal cavity|Coanal stenosis	http://purl.obolibrary.org/obo/HP_0000452							hposlim_core
HP:0000453	biolink:PhenotypicFeature	Choanal atresia	Absence or abnormal closure of the choana (the posterior nasal aperture).	Fyler:4203|MSH:D002754|SNOMEDCT_US:204508009|UMLS:C0008297	hp.json	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							hposlim_core
HP:0000454	biolink:PhenotypicFeature	Flared nostrils		SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873	hp.json	Flared nostrils|Flared nasal alae	http://purl.obolibrary.org/obo/HP_0000454							
HP:0000455	biolink:PhenotypicFeature	Broad nasal tip	Increase in width of the nasal tip.	SNOMEDCT_US:249327002|UMLS:C0426429	hp.json	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							
HP:0000456	biolink:PhenotypicFeature	Bifid nasal tip	A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.	SNOMEDCT_US:249326006|UMLS:C0426428|UMLS:C4020890	hp.json	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							
HP:0000457	biolink:PhenotypicFeature	Depressed nasal ridge	Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.	UMLS:C1842876	hp.json	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							hposlim_core
HP:0000458	biolink:PhenotypicFeature	Anosmia	An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.	MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126	hp.json	Lost smell|Loss of smell	http://purl.obolibrary.org/obo/HP_0000458							hposlim_core
HP:0000460	biolink:PhenotypicFeature	Narrow nose	Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.	SNOMEDCT_US:249322008|UMLS:C0426422	hp.json	Decreased nasal breadth|Decreased nasal width|Narrow nose|Thin nose	http://purl.obolibrary.org/obo/HP_0000460							
HP:0000463	biolink:PhenotypicFeature	Anteverted nares	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).	SNOMEDCT_US:708670007|UMLS:C1840077	hp.json	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							
HP:0000464	biolink:PhenotypicFeature	Abnormality of the neck	An abnormality of the neck.	SNOMEDCT_US:298390003|SNOMEDCT_US:40052002|UMLS:C0266623|UMLS:C0575167|UMLS:C4280628	hp.json	Abnormality of the neck|Deformity of the neck|Malformation of the neck|Anomaly of the neck	http://purl.obolibrary.org/obo/HP_0000464							hposlim_core
HP:0000465	biolink:PhenotypicFeature	Webbed neck	Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.	SNOMEDCT_US:11731003|UMLS:C0221217	hp.json	Neck webbing|Webbed neck|Pterygium colli	http://purl.obolibrary.org/obo/HP_0000465							hposlim_core
HP:0000466	biolink:PhenotypicFeature	Limited neck range of motion		UMLS:C1859212	hp.json	Limited neck range of motion|Limited cervical range of motion	http://purl.obolibrary.org/obo/HP_0000466							
HP:0000467	biolink:PhenotypicFeature	Neck muscle weakness	Decreased strength of the neck musculature.	UMLS:C0240479	hp.json	Floppy neck|Neck muscle weakness|Flaccid neck	http://purl.obolibrary.org/obo/HP_0000467							
HP:0000468	biolink:PhenotypicFeature	Increased adipose tissue around the neck	An increased amount of subcutaneous fat tissue around the neck.	UMLS:C4025850	hp.json	Increased fat around the neck	http://purl.obolibrary.org/obo/HP_0000468							
HP:0000470	biolink:PhenotypicFeature	Short neck	Diminished length of the neck.	SNOMEDCT_US:95427009|UMLS:C0521525	hp.json	Decreased length of neck|Short neck|Cervical shortening|Decreased cervical height|Decreased cervical length	http://purl.obolibrary.org/obo/HP_0000470							hposlim_core
HP:0000471	biolink:PhenotypicFeature	Gastrointestinal angiodysplasia	Dysplasia affecting the vasculature of the gastrointestinal tract.	UMLS:C0854242	hp.json	GI angiodysplasia	http://purl.obolibrary.org/obo/HP_0000471							
HP:0000472	biolink:PhenotypicFeature	Long neck	Increased inferior-superior length of the neck.	UMLS:C1839816	hp.json	Elongated neck|Increased length of neck|Long neck|Cervical elongation|Increased cervical length	http://purl.obolibrary.org/obo/HP_0000472							hposlim_core
HP:0000473	biolink:PhenotypicFeature	Torticollis	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.	MSH:D014103|SNOMEDCT_US:270476009|SNOMEDCT_US:70070008|SNOMEDCT_US:74333002|UMLS:C0040485|UMLS:C0152116|UMLS:C0949445	hp.json	Wry neck|Cervical dystonia|Loxia|Spasmodic torticollis	http://purl.obolibrary.org/obo/HP_0000473							
HP:0000474	biolink:PhenotypicFeature	Thickened nuchal skin fold	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).	UMLS:C1836940	hp.json	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							hposlim_core
HP:0000475	biolink:PhenotypicFeature	Broad neck	Increased side-to-side width of the neck.	UMLS:C1853638	hp.json	Broad neck|Increased width of neck|Wide neck|Thick neck	http://purl.obolibrary.org/obo/HP_0000475							hposlim_core
HP:0000476	biolink:PhenotypicFeature	Cystic hygroma	A cystic lymphatic lesion of the neck.	MSH:D018191|NCIT:C8965|SNOMEDCT_US:399882002|SNOMEDCT_US:40225001|SNOMEDCT_US:423984004|UMLS:C0206620	hp.json	Cystic hygroma of the neck	http://purl.obolibrary.org/obo/HP_0000476							
HP:0000478	biolink:PhenotypicFeature	Abnormality of the eye	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.	MSH:D005124|MSH:D005128|SNOMEDCT_US:19416009|SNOMEDCT_US:371405004|SNOMEDCT_US:371409005|UMLS:C0015393|UMLS:C0015397	hp.json	Abnormal eye|Abnormality of the eye|Eye disease	http://purl.obolibrary.org/obo/HP_0000478							hposlim_core
HP:0000479	biolink:PhenotypicFeature	Abnormal retinal morphology	A structural abnormality of the retina.	MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035300|UMLS:C0035309	hp.json	Retina issue|Abnormal retina|Abnormality of the retina|Anomaly of the retina|Retinal disease	http://purl.obolibrary.org/obo/HP_0000479							hposlim_core
HP:0000480	biolink:PhenotypicFeature	Retinal coloboma	A notch or cleft of the retina.	UMLS:C3540764	hp.json	Hole in the back of the eye	http://purl.obolibrary.org/obo/HP_0000480							hposlim_core
HP:0000481	biolink:PhenotypicFeature	Abnormal cornea morphology	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.	UMLS:C1855670|UMLS:C4020889	hp.json	Abnormality of the cornea|Corneal abnormalities|Corneal abnormality|Cornela disease	http://purl.obolibrary.org/obo/HP_0000481							hposlim_core
HP:0000482	biolink:PhenotypicFeature	Microcornea	A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.	SNOMEDCT_US:26098002|UMLS:C0266544|UMLS:C1167713	hp.json	Cornea of eye less than 10mm in diameter|Decreased corneal diameter	http://purl.obolibrary.org/obo/HP_0000482							hposlim_core
HP:0000483	biolink:PhenotypicFeature	Astigmatism	A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.	MSH:D001251|SNOMEDCT_US:82649003|UMLS:C0004106	hp.json	Abnormal curving of the cornea or lens of the eye|Astigmatism	http://purl.obolibrary.org/obo/HP_0000483							hposlim_core
HP:0000484	biolink:PhenotypicFeature	Hyperopic astigmatism	A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.	SNOMEDCT_US:449734001|UMLS:C1847524	hp.json		http://purl.obolibrary.org/obo/HP_0000484							
HP:0000485	biolink:PhenotypicFeature	Megalocornea	An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.	MSH:C562829|SNOMEDCT_US:204118005|SNOMEDCT_US:268158009|UMLS:C0344530|UMLS:C1167712	hp.json	Enlarged cornea|Anterior megalophthalmos|Increased corneal diameter|Macrocornea	http://purl.obolibrary.org/obo/HP_0000485							hposlim_core
HP:0000486	biolink:PhenotypicFeature	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.	MSH:D013285|SNOMEDCT_US:128602000|SNOMEDCT_US:22066006|UMLS:C0038379	hp.json	Cross-eyed|Squint|Squint eyes	http://purl.obolibrary.org/obo/HP_0000486							hposlim_core
HP:0000487	biolink:PhenotypicFeature	obsolete Congenital strabismus			hp.json		http://purl.obolibrary.org/obo/HP_0000487							
HP:0000488	biolink:PhenotypicFeature	Retinopathy	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.	MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035309	hp.json	Noninflammatory retina disease	http://purl.obolibrary.org/obo/HP_0000488							hposlim_core
HP:0000489	biolink:PhenotypicFeature	obsolete Abnormality of globe location or size			hp.json		http://purl.obolibrary.org/obo/HP_0000489							
HP:0000490	biolink:PhenotypicFeature	Deeply set eye	An eye that is more deeply recessed into the plane of the face than is typical.	MSH:D015841|SNOMEDCT_US:246923005|SNOMEDCT_US:80093006|UMLS:C0014306|UMLS:C0423224	hp.json	Deep set eye|Deep-set eyes|Deeply set eye|Sunken eye|Enophthalmos|Ocular depression|Sunken eyes	http://purl.obolibrary.org/obo/HP_0000490							hposlim_core
HP:0000491	biolink:PhenotypicFeature	Keratitis	Inflammation of the cornea.	MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568	hp.json	Corneal inflammation	http://purl.obolibrary.org/obo/HP_0000491							hposlim_core
HP:0000492	biolink:PhenotypicFeature	Abnormal eyelid morphology	An abnormality of the eyelids.	UMLS:C4021803	hp.json	Abnormality of the eyelid|Abnormality of the eyelids	http://purl.obolibrary.org/obo/HP_0000492							hposlim_core
HP:0000493	biolink:PhenotypicFeature	Abnormal foveal morphology	An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.	UMLS:C4025849	hp.json	Abnormality of the fovea	http://purl.obolibrary.org/obo/HP_0000493							
HP:0000494	biolink:PhenotypicFeature	Downslanted palpebral fissures	The palpebral fissure inclination is more than two standard deviations below the mean.	SNOMEDCT_US:246800008|UMLS:C0423110	hp.json	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							hposlim_core
HP:0000495	biolink:PhenotypicFeature	Recurrent corneal erosions	The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.	MSH:D003320|SNOMEDCT_US:2055003|SNOMEDCT_US:91514001|UMLS:C0010043|UMLS:C0155119|UMLS:C4020888	hp.json	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							
HP:0000496	biolink:PhenotypicFeature	Abnormality of eye movement	An abnormality in voluntary or involuntary eye movements or their control.	SNOMEDCT_US:103252009|UMLS:C0497202	hp.json	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							hposlim_core
HP:0000497	biolink:PhenotypicFeature	Globe retraction and deviation on abduction		UMLS:C4025848	hp.json		http://purl.obolibrary.org/obo/HP_0000497							
HP:0000498	biolink:PhenotypicFeature	Blepharitis	Inflammation of the eyelids.	MSH:D001762|SNOMEDCT_US:231796003|SNOMEDCT_US:41446000|UMLS:C0005741|UMLS:C0339063	hp.json	Inflammation of eyelids|Cellulitis of eyelids	http://purl.obolibrary.org/obo/HP_0000498							hposlim_core
HP:0000499	biolink:PhenotypicFeature	Abnormal eyelash morphology	An abnormality of the eyelashes.	UMLS:C2675111	hp.json	Abnormal eyelashes|Abnormality of the eyelashes|Eyelash abnormality	http://purl.obolibrary.org/obo/HP_0000499							hposlim_core
HP:0000501	biolink:PhenotypicFeature	Glaucoma	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.	MSH:D005901|SNOMEDCT_US:23986001|UMLS:C0017601	hp.json		http://purl.obolibrary.org/obo/HP_0000501							hposlim_core
HP:0000502	biolink:PhenotypicFeature	Abnormal conjunctiva morphology	An abnormality of the conjunctiva.	UMLS:C4025847	hp.json		http://purl.obolibrary.org/obo/HP_0000502							hposlim_core
HP:0000503	biolink:PhenotypicFeature	Tortuosity of conjunctival vessels	The presence of an increased number of twists and turns of the conjunctival blood vessels.	UMLS:C1855391	hp.json		http://purl.obolibrary.org/obo/HP_0000503							
HP:0000504	biolink:PhenotypicFeature	Abnormality of vision	Abnormality of eyesight (visual perception).	UMLS:C4025846	hp.json	Abnormality of sight|Abnormality of vision|Vision issue	http://purl.obolibrary.org/obo/HP_0000504							hposlim_core
HP:0000505	biolink:PhenotypicFeature	Visual impairment	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.	MSH:D014786|MSH:D015354|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|SNOMEDCT_US:7973008|UMLS:C0042798|UMLS:C3665347	hp.json	Impaired vision|Loss of eyesight|Poor vision|Visual impairment	http://purl.obolibrary.org/obo/HP_0000505							hposlim_core
HP:0000506	biolink:PhenotypicFeature	Telecanthus	Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.	MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113	hp.json	Corners of eye widely separated|Dystopia canthorum|Increased distance between medial canthi|Increased intercanthal distance	http://purl.obolibrary.org/obo/HP_0000506							hposlim_core
HP:0000508	biolink:PhenotypicFeature	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).	MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745	hp.json	Drooping upper eyelid|Eye drop|Blepharoptosis|Eyelid ptosis	http://purl.obolibrary.org/obo/HP_0000508							hposlim_core
HP:0000509	biolink:PhenotypicFeature	Conjunctivitis	Inflammation of the conjunctiva.	MSH:D003231|SNOMEDCT_US:9826008|UMLS:C0009763|UMLS:C1864156	hp.json	Pink eye|Conjunctivitis, recurrent	http://purl.obolibrary.org/obo/HP_0000509							hposlim_core
HP:0000510	biolink:PhenotypicFeature	Rod-cone dystrophy	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.	MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334	hp.json	Retinitis pigmentosa|Rod cone dystrophy	http://purl.obolibrary.org/obo/HP_0000510							hposlim_core
HP:0000511	biolink:PhenotypicFeature	Vertical supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.	SNOMEDCT_US:246773002|UMLS:C0339652|UMLS:C1843369	hp.json	Vertical gaze palsy	http://purl.obolibrary.org/obo/HP_0000511							
HP:0000512	biolink:PhenotypicFeature	Abnormal electroretinogram	Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.	SNOMEDCT_US:274524001|UMLS:C0476397	hp.json	Abnormal ERG|Abnormal electroretinography|ERG abnormal	http://purl.obolibrary.org/obo/HP_0000512							hposlim_core
HP:0000514	biolink:PhenotypicFeature	Slow saccadic eye movements	An abnormally slow velocity of the saccadic eye movements.	SNOMEDCT_US:404686001|UMLS:C1321329	hp.json	Slow eye movements|Slow saccades|Slow visual tracking	http://purl.obolibrary.org/obo/HP_0000514							hposlim_core
HP:0000517	biolink:PhenotypicFeature	Abnormality of the lens	An abnormality of the lens.	MSH:D007905|SNOMEDCT_US:10810001|UMLS:C0023308|UMLS:C0549651	hp.json	Abnormality of the lens|Lens issue|Lens disease	http://purl.obolibrary.org/obo/HP_0000517							
HP:0000518	biolink:PhenotypicFeature	Cataract	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.	Fyler:4865|MSH:D002386|SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|SNOMEDCT_US:247053007|UMLS:C0086543|UMLS:C1510497	hp.json	Clouding of the lens of the eye|Cloudy lens|Cataracts|Lens opacities|Lens opacity	http://purl.obolibrary.org/obo/HP_0000518							hposlim_core
HP:0000519	biolink:PhenotypicFeature	Developmental cataract	A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.	SNOMEDCT_US:609587005|SNOMEDCT_US:79410001|UMLS:C0009691|UMLS:C3277059	hp.json	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							hposlim_core
HP:0000520	biolink:PhenotypicFeature	Proptosis	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.	MSH:D005094|SNOMEDCT_US:18265008|UMLS:C0015300|UMLS:C1837760|UMLS:C1848490|UMLS:C1862425	hp.json	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							hposlim_core
HP:0000522	biolink:PhenotypicFeature	Alacrima	Absence of tear secretion.	MSH:C562827|SNOMEDCT_US:253215004|UMLS:C0344505	hp.json	Absence of tears in the eyes|Absent tear secretion|Absent lacrimal fluids	http://purl.obolibrary.org/obo/HP_0000522							hposlim_core
HP:0000523	biolink:PhenotypicFeature	Subcapsular cataract	A cataract that affects the region of the lens directly beneath the capsule of the lens.	SNOMEDCT_US:95723009|UMLS:C0235259	hp.json	Subcapsular cataracts|Subcapsular lenticular cataracts|Subcapsular opacities	http://purl.obolibrary.org/obo/HP_0000523							
HP:0000524	biolink:PhenotypicFeature	Conjunctival telangiectasia	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.	SNOMEDCT_US:231870008|UMLS:C0239105	hp.json	Small dilated blood vessels near membrane covering front of eye and eyelids|Conjunctival telangiectases|Telangiectasia, conjunctival	http://purl.obolibrary.org/obo/HP_0000524							hposlim_core
HP:0000525	biolink:PhenotypicFeature	Abnormality iris morphology	An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.	UMLS:C4025845	hp.json	Abnormality of the iris	http://purl.obolibrary.org/obo/HP_0000525							hposlim_core
HP:0000526	biolink:PhenotypicFeature	Aniridia	Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.	MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076	hp.json	Absent iris	http://purl.obolibrary.org/obo/HP_0000526							hposlim_core
HP:0000527	biolink:PhenotypicFeature	Long eyelashes	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).	UMLS:C1853738	hp.json	Increased length of eyelashes|Long eyelashes|Unusually long eyelashes|Ciliary trichomegaly|Eyelash trichomegaly	http://purl.obolibrary.org/obo/HP_0000527							hposlim_core
HP:0000528	biolink:PhenotypicFeature	Anophthalmia	Absence of the globe or eyeball.	Fyler:4864|MSH:D000853|SNOMEDCT_US:204099004|SNOMEDCT_US:7183006|UMLS:C0003119	hp.json	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							hposlim_core
HP:0000529	biolink:PhenotypicFeature	Progressive visual loss	A reduction of previously attained ability to see.	UMLS:C1839364|UMLS:C3277697	hp.json	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							hposlim_core
HP:0000531	biolink:PhenotypicFeature	Corneal crystals		UMLS:C1096610	hp.json	Corneal deposits	http://purl.obolibrary.org/obo/HP_0000531							
HP:0000532	biolink:PhenotypicFeature	Abnormal chorioretinal morphology	An abnormality of the choroid and retina.	UMLS:C4025844	hp.json	Chorioretinal abnormality	http://purl.obolibrary.org/obo/HP_0000532							
HP:0000533	biolink:PhenotypicFeature	Chorioretinal atrophy	Atrophy of the choroid and retinal layers of the fundus.	SNOMEDCT_US:95686007|UMLS:C4048273	hp.json	Chorioretinal thinning	http://purl.obolibrary.org/obo/HP_0000533							
HP:0000534	biolink:PhenotypicFeature	Abnormal eyebrow morphology	An abnormality of the eyebrow.	UMLS:C4011556	hp.json	Abnormality of the eyebrow	http://purl.obolibrary.org/obo/HP_0000534							hposlim_core
HP:0000535	biolink:PhenotypicFeature	Sparse and thin eyebrow	Decreased density/number and/or decreased diameter of eyebrow hairs.	UMLS:C1832446	hp.json	Sparse and thin eyebrow|Thin, sparse eyebrows	http://purl.obolibrary.org/obo/HP_0000535							hposlim_core
HP:0000537	biolink:PhenotypicFeature	Epicanthus inversus	A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.	SNOMEDCT_US:400956000|UMLS:C1303003	hp.json		http://purl.obolibrary.org/obo/HP_0000537							hposlim_core
HP:0000538	biolink:PhenotypicFeature	Pseudopapilledema	Apparent optic disc swelling in the absence of increased intracranial pressure.	MSH:C562401|SNOMEDCT_US:57138009|UMLS:C0155300	hp.json		http://purl.obolibrary.org/obo/HP_0000538							hposlim_core
HP:0000539	biolink:PhenotypicFeature	Abnormality of refraction	An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.	UMLS:C4025843	hp.json		http://purl.obolibrary.org/obo/HP_0000539							
HP:0000540	biolink:PhenotypicFeature	Hypermetropia	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.	MSH:D006956|SNOMEDCT_US:38101003|UMLS:C0020490	hp.json	Farsightedness|Long-sightedness|Hyperopia	http://purl.obolibrary.org/obo/HP_0000540							hposlim_core
HP:0000541	biolink:PhenotypicFeature	Retinal detachment	Separation of the inner layers of the retina (neural retina) from the pigment epithelium.	MSH:D012163|SNOMEDCT_US:42059000|UMLS:C0035305	hp.json	Detached retina|Retinal detachment	http://purl.obolibrary.org/obo/HP_0000541							hposlim_core
HP:0000542	biolink:PhenotypicFeature	Impaired ocular adduction	Reduced ability to move the eye in the direction of the nose.	UMLS:C1846463	hp.json		http://purl.obolibrary.org/obo/HP_0000542							
HP:0000543	biolink:PhenotypicFeature	Optic disc pallor	A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.	SNOMEDCT_US:302200001|UMLS:C0554970	hp.json	Optic disc pallor|Pale optic disc|Pale optic disk|Disc pallor|Optic disk pallor|Pale optic discs	http://purl.obolibrary.org/obo/HP_0000543							hposlim_core
HP:0000544	biolink:PhenotypicFeature	External ophthalmoplegia	Paralysis of the external ocular muscles.	MSH:D009886|MSH:D017246|SNOMEDCT_US:19373007|SNOMEDCT_US:46252003|UMLS:C0162292|UMLS:C0162674	hp.json	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							
HP:0000545	biolink:PhenotypicFeature	Myopia	An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.	MSH:D009216|SNOMEDCT_US:57190000|UMLS:C0027092	hp.json	Close sighted|Near sighted|Near sightedness|Nearsightedness	http://purl.obolibrary.org/obo/HP_0000545							hposlim_core
HP:0000546	biolink:PhenotypicFeature	Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.	MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304	hp.json	Retina degeneration	http://purl.obolibrary.org/obo/HP_0000546							hposlim_core
HP:0000547	biolink:PhenotypicFeature	obsolete Tapetoretinal degeneration			hp.json	Retinotapetal degeneration	http://purl.obolibrary.org/obo/HP_0000547							
HP:0000548	biolink:PhenotypicFeature	Cone/cone-rod dystrophy		MSH:D012174	hp.json	Cone rod dystrophy|Cone-rod retinal dystrophy	http://purl.obolibrary.org/obo/HP_0000548							
HP:0000549	biolink:PhenotypicFeature	Abnormal conjugate eye movement	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.	UMLS:C1845274	hp.json	Disconjugate eye movements	http://purl.obolibrary.org/obo/HP_0000549							
HP:0000550	biolink:PhenotypicFeature	Undetectable electroretinogram	Lack of any response to stimulation upon electroretinography.	UMLS:C1855685	hp.json	Abolished electroretinogram|Absent electroretinogram|Extinction of electroretinogram|Extinguished electroretinogram|No light-evoked response on electroretinogram|Undetectable ERG	http://purl.obolibrary.org/obo/HP_0000550							
HP:0000551	biolink:PhenotypicFeature	Color vision defect	An anomaly in the ability to discriminate between or recognize colors.	MSH:D003117|SNOMEDCT_US:23289000|SNOMEDCT_US:367469000|UMLS:C0009398|UMLS:C0234629|UMLS:C3552853	hp.json	Abnormal color vision|Abnormality of color vision|Abnormal colour vision|Colour vision defect|Color vision defect, severe|Color vision defects|Colour vision defect, severe|Colour vision defects|Loss in colour vision|Abnormality of colour vision|Loss in color vision	http://purl.obolibrary.org/obo/HP_0000551							
HP:0000552	biolink:PhenotypicFeature	Tritanomaly	Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.	MSH:D003117|SNOMEDCT_US:51886007|SNOMEDCT_US:85049009|UMLS:C0155017|UMLS:C1970167	hp.json	Blue yellow color blindness|Blue yellow colour blindness|Blue/yellow colour vision defect|Blue-yellow dyschromatopsia|Dyschromatopsia, blue-yellow|Blue/yellow color vision defect	http://purl.obolibrary.org/obo/HP_0000552							
HP:0000553	biolink:PhenotypicFeature	Abnormal uvea morphology	An abnormality of the uvea, the vascular layer of the eyeball.	UMLS:C4025842	hp.json	Abnormality of the uvea	http://purl.obolibrary.org/obo/HP_0000553							
HP:0000554	biolink:PhenotypicFeature	Uveitis	Inflammation of one or all portions of the uveal tract.	MSH:D014605|SNOMEDCT_US:128473001|UMLS:C0042164	hp.json		http://purl.obolibrary.org/obo/HP_0000554							hposlim_core
HP:0000555	biolink:PhenotypicFeature	Leukocoria	An abnormal white reflection from the pupil rather than the usual black reflection.	SNOMEDCT_US:1361009|UMLS:C0152458	hp.json	Leukokoria|White pupillary reflex	http://purl.obolibrary.org/obo/HP_0000555							
HP:0000556	biolink:PhenotypicFeature	Retinal dystrophy	Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.	MSH:D058499|SNOMEDCT_US:314407005|UMLS:C0854723	hp.json	Breakdown of light-sensitive cells in back of eye	http://purl.obolibrary.org/obo/HP_0000556							
HP:0000557	biolink:PhenotypicFeature	Buphthalmos	Diffusely large eye (with megalocornea) associated with glaucoma.	MSH:D006871|UMLS:C4551507	hp.json	Enlarged eyeball	http://purl.obolibrary.org/obo/HP_0000557							hposlim_core
HP:0000558	biolink:PhenotypicFeature	Rieger anomaly	A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.	MSH:C535679|SNOMEDCT_US:47507006|UMLS:C0265341	hp.json		http://purl.obolibrary.org/obo/HP_0000558							
HP:0000559	biolink:PhenotypicFeature	Corneal scarring		MSH:D065306|SNOMEDCT_US:95726001|UMLS:C0349702	hp.json		http://purl.obolibrary.org/obo/HP_0000559							
HP:0000561	biolink:PhenotypicFeature	Absent eyelashes	Lack of eyelashes.	UMLS:C1843005|UMLS:C4280626|UMLS:C4280627	hp.json	Absent eyelashes|Failure of development of eyelashes|Atrichia of eyelashes|Agenesis of eyelashes|Aplasia of eyelashes	http://purl.obolibrary.org/obo/HP_0000561							hposlim_core
HP:0000563	biolink:PhenotypicFeature	Keratoconus	A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.	MSH:D007640|SNOMEDCT_US:65636009|UMLS:C0022578	hp.json	Bulging cornea|Conical cornea	http://purl.obolibrary.org/obo/HP_0000563							hposlim_core
HP:0000564	biolink:PhenotypicFeature	Lacrimal duct atresia	A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.	SNOMEDCT_US:278530008|UMLS:C0344511	hp.json	Unopened tear duct|Imperforate nasolacrimal ducts|Nasolacrimal duct atresia	http://purl.obolibrary.org/obo/HP_0000564							
HP:0000565	biolink:PhenotypicFeature	Esotropia	A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.	MSH:D004948|SNOMEDCT_US:16596007|UMLS:C0014877	hp.json	Inward turning cross eyed	http://purl.obolibrary.org/obo/HP_0000565							hposlim_core
HP:0000567	biolink:PhenotypicFeature	Chorioretinal coloboma	Absence of a region of the retina, retinal pigment epithelium, and choroid.	SNOMEDCT_US:39302008|UMLS:C0240896	hp.json	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							
HP:0000568	biolink:PhenotypicFeature	Microphthalmia	A developmental anomaly characterized by abnormal smallness of one or both eyes.	Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280625|UMLS:C4280808	hp.json	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							hposlim_core
HP:0000570	biolink:PhenotypicFeature	Abnormal saccadic eye movements	An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.	UMLS:C1842584|UMLS:C4025841	hp.json	Abnormality of saccadic eye movements|Impaired saccades	http://purl.obolibrary.org/obo/HP_0000570							
HP:0000571	biolink:PhenotypicFeature	Hypometric saccades	Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.	SNOMEDCT_US:246768008|UMLS:C0423082	hp.json		http://purl.obolibrary.org/obo/HP_0000571							
HP:0000572	biolink:PhenotypicFeature	Visual loss	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).	SNOMEDCT_US:7973008|UMLS:C3665386	hp.json	Loss of vision|Vision loss|Visual loss	http://purl.obolibrary.org/obo/HP_0000572							
HP:0000573	biolink:PhenotypicFeature	Retinal hemorrhage	Hemorrhage occurring within the retina.	MSH:D012166|SNOMEDCT_US:28998008|UMLS:C0035317	hp.json	Retinal bleeding|Retinal hemorrhages|Retinal haemorrhage|Retinal haemorrhages	http://purl.obolibrary.org/obo/HP_0000573							hposlim_core
HP:0000574	biolink:PhenotypicFeature	Thick eyebrow	Increased density/number and/or increased diameter of eyebrow hairs.	UMLS:C1853487	hp.json	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							hposlim_core
HP:0000575	biolink:PhenotypicFeature	Scotoma	A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.	MSH:D009898|MSH:D012607|SNOMEDCT_US:23388006|SNOMEDCT_US:81016008|UMLS:C0036454|UMLS:C0344233	hp.json	Blind spot	http://purl.obolibrary.org/obo/HP_0000575							hposlim_core
HP:0000576	biolink:PhenotypicFeature	Centrocecal scotoma	A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.	MSH:D012607|SNOMEDCT_US:33014001|UMLS:C0271196	hp.json		http://purl.obolibrary.org/obo/HP_0000576							
HP:0000577	biolink:PhenotypicFeature	Exotropia	A form of strabismus with one or both eyes deviated outward.	MSH:D005099|SNOMEDCT_US:399054005|SNOMEDCT_US:399252000|UMLS:C0015310	hp.json	Outward facing eye ball	http://purl.obolibrary.org/obo/HP_0000577							hposlim_core
HP:0000579	biolink:PhenotypicFeature	Nasolacrimal duct obstruction	Blockage of the lacrimal duct.	MSH:D007767|SNOMEDCT_US:231841004|SNOMEDCT_US:246865000|SNOMEDCT_US:314022009|SNOMEDCT_US:416920000|UMLS:C0022906|UMLS:C1281931	hp.json	Blocked tear duct|Lacrimal duct obstruction	http://purl.obolibrary.org/obo/HP_0000579							hposlim_core
HP:0000580	biolink:PhenotypicFeature	Pigmentary retinopathy	An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.	MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334	hp.json	Pigmentary retinal deposits|Retinal pigment clumping|Retinal pigmentary clumping|Retinal pigmentary degeneration	http://purl.obolibrary.org/obo/HP_0000580							
HP:0000581	biolink:PhenotypicFeature	Blepharophimosis	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.	MSH:D016569|UMLS:C0005744	hp.json	Narrow opening between the eyelids|Decreased width of palpebral fissure	http://purl.obolibrary.org/obo/HP_0000581							hposlim_core
HP:0000582	biolink:PhenotypicFeature	Upslanted palpebral fissure	The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.	SNOMEDCT_US:246799009|UMLS:C0423109	hp.json	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							hposlim_core
HP:0000584	biolink:PhenotypicFeature	Punctate corneal epithelial erosions		UMLS:C1832170	hp.json		http://purl.obolibrary.org/obo/HP_0000584							
HP:0000585	biolink:PhenotypicFeature	Band keratopathy	An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.	MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120	hp.json	Calcific band keratopathy	http://purl.obolibrary.org/obo/HP_0000585							hposlim_core
HP:0000586	biolink:PhenotypicFeature	Shallow orbits	Reduced depth of the orbits associated with prominent-appearing ocular globes.	UMLS:C1865244	hp.json	Decreased depth of eye sockets|Shallow eye sockets|Decreased depth of orbits|Small shallow orbits	http://purl.obolibrary.org/obo/HP_0000586							
HP:0000587	biolink:PhenotypicFeature	Abnormality of the optic nerve	Abnormality of the optic nerve.	UMLS:C0029131	hp.json	Optic nerve issue|optic nerve abnormalities	http://purl.obolibrary.org/obo/HP_0000587							hposlim_core
HP:0000588	biolink:PhenotypicFeature	Optic disc coloboma	A cleft of the optic nerve that extends inferiorly.	MSH:C535970|SNOMEDCT_US:17541006|SNOMEDCT_US:44295002|UMLS:C0155299	hp.json	Coloboma of optic nerve|Optic disk coloboma|Optic nerve coloboma	http://purl.obolibrary.org/obo/HP_0000588							hposlim_core
HP:0000589	biolink:PhenotypicFeature	Coloboma	A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.	Fyler:4311|MSH:D003103|SNOMEDCT_US:92828000|SNOMEDCT_US:93390002|UMLS:C0009363	hp.json	Notched pupil|Ocular coloboma|Ocular colobomas	http://purl.obolibrary.org/obo/HP_0000589							
HP:0000590	biolink:PhenotypicFeature	Progressive external ophthalmoplegia	Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.	MSH:D017246|SNOMEDCT_US:46252003|UMLS:C0162674	hp.json	External ophthalmoplegia, progressive	http://purl.obolibrary.org/obo/HP_0000590							
HP:0000591	biolink:PhenotypicFeature	Abnormal sclera morphology	An abnormality of the sclera.	UMLS:C4025840	hp.json	Abnormality of the outer white part of eyeball|Abnormality of the sclera	http://purl.obolibrary.org/obo/HP_0000591							hposlim_core
HP:0000592	biolink:PhenotypicFeature	Blue sclerae	An abnormal bluish coloration of the sclera.	SNOMEDCT_US:204164000|UMLS:C0542514	hp.json	Blue outer white part of eyeball|Whites of eyes are a bluish-gray color|Whites of eyes are a bluish-gray colour|Blue sclera|Bluish sclerae	http://purl.obolibrary.org/obo/HP_0000592							hposlim_core
HP:0000593	biolink:PhenotypicFeature	Abnormal anterior chamber morphology	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.	SNOMEDCT_US:204142009|UMLS:C3152182	hp.json	Abnormality of the anterior chamber|Anterior chamber anomalies|Ocular anterior chamber abnormality	http://purl.obolibrary.org/obo/HP_0000593							hposlim_core
HP:0000594	biolink:PhenotypicFeature	Shallow anterior chamber	Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.	SNOMEDCT_US:246986004|UMLS:C0423276	hp.json		http://purl.obolibrary.org/obo/HP_0000594							
HP:0000597	biolink:PhenotypicFeature	Ophthalmoparesis	Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.	MSH:D009886|UMLS:C0751401	hp.json	Weakness of muscles controlling eye movement|Extraocular muscle palsy|Extraocular muscle paralysis|Weakness of extraocular eye movement	http://purl.obolibrary.org/obo/HP_0000597							
HP:0000598	biolink:PhenotypicFeature	Abnormality of the ear	An abnormality of the ear.	SNOMEDCT_US:275259005|UMLS:C0266589	hp.json	Abnormality of the ear|Ear anomaly	http://purl.obolibrary.org/obo/HP_0000598							hposlim_core
HP:0000599	biolink:PhenotypicFeature	Abnormality of the frontal hairline	An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.	UMLS:C4025839	hp.json	Abnormality of hairline at front of head|Abnormality of the frontal hairline	http://purl.obolibrary.org/obo/HP_0000599							
HP:0000600	biolink:PhenotypicFeature	Abnormality of the pharynx	An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.	UMLS:C4025838	hp.json		http://purl.obolibrary.org/obo/HP_0000600							
HP:0000601	biolink:PhenotypicFeature	Hypotelorism	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).	SNOMEDCT_US:44593008|UMLS:C0424711	hp.json	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							hposlim_core
HP:0000602	biolink:PhenotypicFeature	Ophthalmoplegia	Paralysis of one or more extraocular muscles that are responsible for eye movements.	MSH:D009886|SNOMEDCT_US:16110005|UMLS:C0029089	hp.json	Eye muscle paralysis|Paralysis of extraocular eye movement	http://purl.obolibrary.org/obo/HP_0000602							
HP:0000603	biolink:PhenotypicFeature	Central scotoma	An area of depressed vision located at the point of fixation and that interferes with central vision.	MSH:D012607|SNOMEDCT_US:38950008|UMLS:C0152191|UMLS:C4280624	hp.json	Blind spot located at fixation point|Central blind spot|Central scotomata	http://purl.obolibrary.org/obo/HP_0000603							hposlim_core
HP:0000605	biolink:PhenotypicFeature	Supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.	SNOMEDCT_US:420675003|UMLS:C1720037	hp.json	Supranuclear gaze paralysis	http://purl.obolibrary.org/obo/HP_0000605							
HP:0000606	biolink:PhenotypicFeature	Abnormality of the periorbital region	An abnormality of the region situated around the orbit of the eye.	UMLS:C4025837	hp.json	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							
HP:0000607	biolink:PhenotypicFeature	Periorbital wrinkles		UMLS:C1844605	hp.json	Wrinkles around the eyes|Excess periorbital skin wrinkling|Periorbital rhytids|Periorbital wrinkling	http://purl.obolibrary.org/obo/HP_0000607							
HP:0000608	biolink:PhenotypicFeature	Macular degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.	SNOMEDCT_US:422338006|UMLS:C0024437	hp.json	Pigmented macular degeneration	http://purl.obolibrary.org/obo/HP_0000608							
HP:0000609	biolink:PhenotypicFeature	Optic nerve hypoplasia	Underdevelopment of the optic nerve.	SNOMEDCT_US:95499004|UMLS:C0338502	hp.json	Hypoplastic optic nerves|Underdeveloped optic nerves	http://purl.obolibrary.org/obo/HP_0000609							
HP:0000610	biolink:PhenotypicFeature	Abnormal choroid morphology	Any structural abnormality of the choroid.	MSH:D015862|UMLS:C0008521|UMLS:C4025836	hp.json	Abnormality of the choroid|Choroid disease	http://purl.obolibrary.org/obo/HP_0000610							hposlim_core
HP:0000611	biolink:PhenotypicFeature	obsolete Choroid coloboma			hp.json		http://purl.obolibrary.org/obo/HP_0000611							
HP:0000612	biolink:PhenotypicFeature	Iris coloboma	A coloboma of the iris.	UMLS:C0240063	hp.json	Cat eye|Coloboma of iris|Coloboma of the iris|Keyhole iris	http://purl.obolibrary.org/obo/HP_0000612							hposlim_core
HP:0000613	biolink:PhenotypicFeature	Photophobia	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.	MSH:D020795|SNOMEDCT_US:246622003|SNOMEDCT_US:409668002|UMLS:C0085636|UMLS:C4020887	hp.json	Extreme sensitivity of the eyes to light|Light hypersensitivity|Photodysphoria	http://purl.obolibrary.org/obo/HP_0000613							hposlim_core
HP:0000614	biolink:PhenotypicFeature	Abnormal nasolacrimal system morphology	An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.	UMLS:C4025835	hp.json	Abnormality of the nasolacrimal system	http://purl.obolibrary.org/obo/HP_0000614							hposlim_core
HP:0000615	biolink:PhenotypicFeature	Abnormal pupil morphology	An abnormality of the pupil.	SNOMEDCT_US:274093008|UMLS:C0154936	hp.json	Abnormality of the pupil|Pupillary abnormalities|Pupillary abnormality|Abnormal pupillary morphology	http://purl.obolibrary.org/obo/HP_0000615							hposlim_core
HP:0000616	biolink:PhenotypicFeature	Miosis	Abnormal (non-physiological) constriction of the pupil.	MSH:D015877|SNOMEDCT_US:63251006|UMLS:C0026205	hp.json	Constricted pupils|Pupillary constriction	http://purl.obolibrary.org/obo/HP_0000616							hposlim_core
HP:0000617	biolink:PhenotypicFeature	Abnormality of ocular smooth pursuit	An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.	UMLS:C1836393	hp.json	Abnormal smooth pursuits|Disrupted ocular pursuit movements|Impaired smooth pursuit ocular movements|Irregular visual pursuit movements	http://purl.obolibrary.org/obo/HP_0000617							
HP:0000618	biolink:PhenotypicFeature	Blindness	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.	Fyler:4866|MSH:D001766|SNOMEDCT_US:65956007|UMLS:C0271215|UMLS:C0456909	hp.json	Blindness|Legal blindness|Total vision loss	http://purl.obolibrary.org/obo/HP_0000618							hposlim_core
HP:0000619	biolink:PhenotypicFeature	Impaired convergence	Reduced ability to turn the eyes inward in order to focus on a nearby object.	MSH:D015835|SNOMEDCT_US:194131002|UMLS:C0271379	hp.json	Convergence insufficiency	http://purl.obolibrary.org/obo/HP_0000619							
HP:0000620	biolink:PhenotypicFeature	Dacryocystitis	Inflammation of the nasolacrimal sac.	MSH:D003607|SNOMEDCT_US:85777005|UMLS:C0010930	hp.json	Dacrocystitis|Infection of the lacrimal sac	http://purl.obolibrary.org/obo/HP_0000620							
HP:0000621	biolink:PhenotypicFeature	Entropion	An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.	MSH:D004774|SNOMEDCT_US:33168009|UMLS:C0014390	hp.json	Eyelid folded in|Eyelid turned in|Inverted eyelid	http://purl.obolibrary.org/obo/HP_0000621							hposlim_core
HP:0000622	biolink:PhenotypicFeature	Blurred vision	Lack of sharpness of vision resulting in the inability to see fine detail.	SNOMEDCT_US:111516008|SNOMEDCT_US:246636008|UMLS:C0344232	hp.json	Blurred vision	http://purl.obolibrary.org/obo/HP_0000622							hposlim_core
HP:0000623	biolink:PhenotypicFeature	Supranuclear ophthalmoplegia	A vertical gaze palsy with inability to direct the gaze of the eyes downwards.	UMLS:C1408507	hp.json		http://purl.obolibrary.org/obo/HP_0000623							hposlim_core
HP:0000625	biolink:PhenotypicFeature	Eyelid coloboma	A short discontinuity of the margin of the lower or upper eyelid.	SNOMEDCT_US:95202004|UMLS:C0521573	hp.json	Cleft eyelid|Notched eyelid|Eyelid coloboma|Full thickness defect of the eyelid	http://purl.obolibrary.org/obo/HP_0000625							hposlim_core
HP:0000627	biolink:PhenotypicFeature	Posterior embryotoxon	A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.	SNOMEDCT_US:253228006|SNOMEDCT_US:392437005|UMLS:C0344531|UMLS:C0546967	hp.json	Embryotoxon	http://purl.obolibrary.org/obo/HP_0000627							hposlim_core
HP:0000629	biolink:PhenotypicFeature	Periorbital fullness	Increase in periorbital soft tissue.	UMLS:C1858036	hp.json	Puffiness around eye|Fullness around the eyes|Periorbital puffiness|Periorbital swelling|Puffy eyes|Swelling around the eyes	http://purl.obolibrary.org/obo/HP_0000629							
HP:0000630	biolink:PhenotypicFeature	Abnormal retinal artery morphology		UMLS:C4021802	hp.json	Abnormality of retinal arteries|Retinal arterial abnormality	http://purl.obolibrary.org/obo/HP_0000630							
HP:0000631	biolink:PhenotypicFeature	Retinal arterial tortuosity	The presence of an increased number of twists and turns of the retinal artery.	SNOMEDCT_US:247123003|UMLS:C0423401	hp.json	Retinal artery tortuousity	http://purl.obolibrary.org/obo/HP_0000631							hposlim_core
HP:0000632	biolink:PhenotypicFeature	Lacrimation abnormality	Abnormality of tear production.	UMLS:C4021801	hp.json	Abnormality of tear production	http://purl.obolibrary.org/obo/HP_0000632							
HP:0000633	biolink:PhenotypicFeature	Decreased lacrimation	Abnormally decreased lacrimation, that is, reduced ability to produce tears.	UMLS:C0235857	hp.json	Decreased tear secretion	http://purl.obolibrary.org/obo/HP_0000633							
HP:0000634	biolink:PhenotypicFeature	Impaired ocular abduction	An impaired ability of the eye to move in the outward direction (towards the side of the head).	UMLS:C1846462	hp.json		http://purl.obolibrary.org/obo/HP_0000634							
HP:0000635	biolink:PhenotypicFeature	Blue irides	A markedly blue coloration of the iris.	SNOMEDCT_US:301952009|UMLS:C0578626	hp.json	Blue eyes	http://purl.obolibrary.org/obo/HP_0000635							
HP:0000636	biolink:PhenotypicFeature	Upper eyelid coloboma	A short discontinuity of the margin of the upper eyelid.	UMLS:C1863872	hp.json	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							
HP:0000637	biolink:PhenotypicFeature	Long palpebral fissure	Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.	UMLS:C1849340	hp.json	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							hposlim_core
HP:0000639	biolink:PhenotypicFeature	Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.	MSH:D009759|SNOMEDCT_US:563001|UMLS:C0028738	hp.json	Involuntary, rapid, rhythmic eye movements	http://purl.obolibrary.org/obo/HP_0000639							hposlim_core
HP:0000640	biolink:PhenotypicFeature	Gaze-evoked nystagmus	Nystagmus made apparent by looking to the right or to the left.	MSH:D009760|SNOMEDCT_US:29356006|UMLS:C0271390	hp.json		http://purl.obolibrary.org/obo/HP_0000640							
HP:0000641	biolink:PhenotypicFeature	Dysmetric saccades	The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.	UMLS:C1836392	hp.json	Uncoordinated eye movement|Dysmetric eye movements|Dysmetric eye saccades	http://purl.obolibrary.org/obo/HP_0000641							hposlim_core
HP:0000642	biolink:PhenotypicFeature	Red-green dyschromatopsia	Difficulty with discriminating red and green hues.	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016|UMLS:C1970168	hp.json	Red green color blindness|Red green colour blindness|Red/green colour vision defect|Dyschromatopsia with red-green confusion|Red/green color vision defect	http://purl.obolibrary.org/obo/HP_0000642							
HP:0000643	biolink:PhenotypicFeature	Blepharospasm	A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.	MSH:D001764|SNOMEDCT_US:59026006|UMLS:C0005747	hp.json	Eyelid spasm|Eyelid twitching|Involuntary closure of eyelid|Spontaneous closure of eyelid	http://purl.obolibrary.org/obo/HP_0000643							
HP:0000646	biolink:PhenotypicFeature	Amblyopia	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.	MSH:D000550|SNOMEDCT_US:387742006|UMLS:C0002418	hp.json	Lazy eye|Wandering eye|Wandering eyes	http://purl.obolibrary.org/obo/HP_0000646							hposlim_core
HP:0000647	biolink:PhenotypicFeature	Sclerocornea	A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.	MSH:C565209|UMLS:C1853235	hp.json	Hardening of skin and connective tissue	http://purl.obolibrary.org/obo/HP_0000647							hposlim_core
HP:0000648	biolink:PhenotypicFeature	Optic atrophy	Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.	MSH:D009896|SNOMEDCT_US:76976005|UMLS:C0029124	hp.json	Optic nerve atrophy|Optic-nerve degeneration	http://purl.obolibrary.org/obo/HP_0000648							hposlim_core
HP:0000649	biolink:PhenotypicFeature	Abnormality of visual evoked potentials	An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.	SNOMEDCT_US:102968003|UMLS:C0522214	hp.json	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							hposlim_core
HP:0000650	biolink:PhenotypicFeature	Abnormal amplitude of pattern reversal visual evoked potentials		UMLS:C4025834	hp.json		http://purl.obolibrary.org/obo/HP_0000650							
HP:0000651	biolink:PhenotypicFeature	Diplopia	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.	MSH:D004172|SNOMEDCT_US:24982008|UMLS:C0012569	hp.json	Double vision	http://purl.obolibrary.org/obo/HP_0000651							hposlim_core
HP:0000652	biolink:PhenotypicFeature	Lower eyelid coloboma	A short discontinuity of the margin of the lower eyelid.	UMLS:C1837826	hp.json	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							
HP:0000653	biolink:PhenotypicFeature	Sparse eyelashes	Decreased density/number of eyelashes.	UMLS:C1843300	hp.json	Scant eyelashes|Scanty eyelashes|Sparse eyelashes|Thin eyelashes|Hypotrichosis of eyelashes|Partial absence of eyelashes	http://purl.obolibrary.org/obo/HP_0000653							hposlim_core
HP:0000654	biolink:PhenotypicFeature	Decreased light- and dark-adapted electroretinogram amplitude	Descreased amplitude of eletrical response upon electroretinography.	UMLS:C1839025	hp.json	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							
HP:0000655	biolink:PhenotypicFeature	obsolete Vitreoretinal degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0000655							
HP:0000656	biolink:PhenotypicFeature	Ectropion	An outward turning (eversion) or rotation of the eyelid margin.	MSH:D004483|SNOMEDCT_US:127559009|SNOMEDCT_US:62909004|UMLS:C0013592	hp.json	Eyelid folded out|Eyelid turned out|Everted eyelid	http://purl.obolibrary.org/obo/HP_0000656							hposlim_core
HP:0000657	biolink:PhenotypicFeature	Oculomotor apraxia	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.	MSH:C537423|SNOMEDCT_US:193662007|UMLS:C3489733|UMLS:C4020886	hp.json	Ocular motor apraxia|Defective or absent horizontal voluntary eye movements	http://purl.obolibrary.org/obo/HP_0000657							hposlim_core
HP:0000658	biolink:PhenotypicFeature	Eyelid apraxia		SNOMEDCT_US:423142006|UMLS:C1142448	hp.json	Difficulty opening the eyelids	http://purl.obolibrary.org/obo/HP_0000658							
HP:0000659	biolink:PhenotypicFeature	Peters anomaly	A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.	MSH:C537884|SNOMEDCT_US:204153003|UMLS:C0344559	hp.json		http://purl.obolibrary.org/obo/HP_0000659							hposlim_core
HP:0000660	biolink:PhenotypicFeature	Lipemia retinalis	A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.	SNOMEDCT_US:95692001|UMLS:C0339477	hp.json		http://purl.obolibrary.org/obo/HP_0000660							
HP:0000661	biolink:PhenotypicFeature	Palpebral fissure narrowing on adduction		UMLS:C1846465	hp.json		http://purl.obolibrary.org/obo/HP_0000661							
HP:0000662	biolink:PhenotypicFeature	Nyctalopia	Inability to see well at night or in poor light.	MSH:D009755|SNOMEDCT_US:65194006|UMLS:C0028077|UMLS:C4020885	hp.json	Night blindness|Night-blindness|Poor night vision|Difficulties with night vision	http://purl.obolibrary.org/obo/HP_0000662							hposlim_core
HP:0000664	biolink:PhenotypicFeature	Synophrys	Meeting of the medial eyebrows in the midline.	SNOMEDCT_US:253207002|UMLS:C0431447	hp.json	Monobrow|Unibrow|Synophris	http://purl.obolibrary.org/obo/HP_0000664							hposlim_core
HP:0000666	biolink:PhenotypicFeature	Horizontal nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements.	MSH:D009759|SNOMEDCT_US:81756001|UMLS:C0271385	hp.json	Nystagmus, horizontal	http://purl.obolibrary.org/obo/HP_0000666							hposlim_core
HP:0000667	biolink:PhenotypicFeature	Phthisis bulbi	Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.	SNOMEDCT_US:4229009|UMLS:C0271007	hp.json		http://purl.obolibrary.org/obo/HP_0000667							hposlim_core
HP:0000668	biolink:PhenotypicFeature	Hypodontia	The absence of five or less teeth from the normal series by a failure to develop.	MSH:D000848|SNOMEDCT_US:64969001|UMLS:C0020608	hp.json	Failure of development of between one and six teeth|Missing between one and six teeth	http://purl.obolibrary.org/obo/HP_0000668							hposlim_core
HP:0000670	biolink:PhenotypicFeature	Carious teeth	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.	MSH:D003731|SNOMEDCT_US:80967001|UMLS:C0011334|UMLS:C4280623	hp.json	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							hposlim_core
HP:0000674	biolink:PhenotypicFeature	Anodontia	The absence of all teeth from the normal series by a failure to develop.	MSH:D000848|SNOMEDCT_US:16958000|SNOMEDCT_US:26624006|UMLS:C0399352|UMLS:C4280622	hp.json	Failure of development of all teeth|Missing all teeth|Total absence of all teeth|Anodontia vera|Complete agenesis of all teeth|Complete dental agenesis|Complete anodontia|Total anodontia	http://purl.obolibrary.org/obo/HP_0000674							
HP:0000675	biolink:PhenotypicFeature	Macrodontia of permanent maxillary central incisor	Increased size of the maxillary central secondary incisor tooth.	UMLS:C1835095|UMLS:C4280263|UMLS:C4280620|UMLS:C4280621	hp.json	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							
HP:0000676	biolink:PhenotypicFeature	Abnormality of the incisor	An abnormality of the Incisor tooth.	UMLS:C4025833	hp.json		http://purl.obolibrary.org/obo/HP_0000676							
HP:0000677	biolink:PhenotypicFeature	Oligodontia	The absence of six or more teeth from the normal series by a failure to develop.	UMLS:C4082304|UMLS:C4280619	hp.json	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							
HP:0000678	biolink:PhenotypicFeature	Dental crowding	Changes in alignment of teeth in the dental arch	MSH:D008310|SNOMEDCT_US:12351004|SNOMEDCT_US:699222000|UMLS:C0040433|UMLS:C1317785|UMLS:C4280617|UMLS:C4280618	hp.json	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							hposlim_core
HP:0000679	biolink:PhenotypicFeature	Taurodontia	Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.	MSH:C536946|SNOMEDCT_US:51744007|UMLS:C0266039|UMLS:C4280616	hp.json	Taurodont|Taurodontism|Large elongated pulp chamber	http://purl.obolibrary.org/obo/HP_0000679							hposlim_core
HP:0000680	biolink:PhenotypicFeature	Delayed eruption of primary teeth	Delayed tooth eruption affecting the primary dentition.	UMLS:C1849538	hp.json	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							
HP:0000682	biolink:PhenotypicFeature	Abnormal dental enamel morphology	An abnormality of the dental enamel.	UMLS:C4021800|UMLS:C4280262|UMLS:C4280615	hp.json	Abnormal tooth enamel|Enamel abnormalities|Enamel abnormality|Defective tooth enamel|Malformation of dental enamel|Malformation of tooth enamel|Abnormality of dental enamel|Dystrophic tooth enamel	http://purl.obolibrary.org/obo/HP_0000682							hposlim_core
HP:0000683	biolink:PhenotypicFeature	Grayish enamel	A grey discoloration of the dental enamel.	UMLS:C1854783	hp.json	Gray colored tooth enamel|Grayish enamel|Greyish enamel|Grey coloured tooth enamel|Grey tooth shade|Gray tooth shade	http://purl.obolibrary.org/obo/HP_0000683							
HP:0000684	biolink:PhenotypicFeature	Delayed eruption of teeth	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.	SNOMEDCT_US:5639000|UMLS:C0239174	hp.json	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							hposlim_core
HP:0000685	biolink:PhenotypicFeature	Hypoplasia of teeth	Developmental hypoplasia of teeth.	UMLS:C0235357|UMLS:C4280611	hp.json	Decreased size of teeth|Underdevelopment of teeth|Hypoplastic teeth	http://purl.obolibrary.org/obo/HP_0000685							
HP:0000687	biolink:PhenotypicFeature	Widely spaced teeth	Increased spaces (diastemata) between most of the teeth in the same dental arch.	UMLS:C1844813	hp.json	Wide-spaced teeth|Widely spaced teeth|Widely-spaced teeth|Generalised dental spacing|Generalised spacing of teeth|Generalized dental spacing|Generalized spacing of teeth|Multiple diastemata	http://purl.obolibrary.org/obo/HP_0000687							hposlim_core
HP:0000689	biolink:PhenotypicFeature	Dental malocclusion	Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.	MSH:D008310|SNOMEDCT_US:47944004|SNOMEDCT_US:707598004|UMLS:C0024636|UMLS:C4280613|UMLS:C4280614	hp.json	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|Occlusion anomaly|Angle class 2 malocclusion|Angle class 3 malocclusion	http://purl.obolibrary.org/obo/HP_0000689							
HP:0000690	biolink:PhenotypicFeature	Agenesis of maxillary lateral incisor	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.	UMLS:C1849950|UMLS:C4083046	hp.json	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							
HP:0000691	biolink:PhenotypicFeature	Microdontia	Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.	SNOMEDCT_US:32337007|UMLS:C0240340|UMLS:C4280611|UMLS:C4280612	hp.json	Decreased size of tooth|Decreased width of tooth|Small tooth|Hypotrophic tooth|Small teeth|Tooth hypoplasia|Tooth hypotrophy|Underdeveloped tooth	http://purl.obolibrary.org/obo/HP_0000691							hposlim_core
HP:0000692	biolink:PhenotypicFeature	Tooth malposition	Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.	UMLS:C1852504|UMLS:C4280610	hp.json	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|Teeth, malposition	http://purl.obolibrary.org/obo/HP_0000692							
HP:0000694	biolink:PhenotypicFeature	Odontodysplasia	The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.	SNOMEDCT_US:67504007|UMLS:C2981132	hp.json	Ghost teeth|Shell teeth|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							
HP:0000695	biolink:PhenotypicFeature	Natal tooth	A tooth present at birth or erupting within the first month of life.	MSH:D009306|SNOMEDCT_US:21995002|SNOMEDCT_US:58748004|UMLS:C0027443	hp.json	Born with teeth|Teeth present at birth|Natal teeth|Neonatal teeth	http://purl.obolibrary.org/obo/HP_0000695							hposlim_core
HP:0000696	biolink:PhenotypicFeature	Delayed eruption of permanent teeth	Delayed tooth eruption affecting the secondary dentition.	UMLS:C1849540	hp.json	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							
HP:0000698	biolink:PhenotypicFeature	Conical tooth	An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.	SNOMEDCT_US:29553002|UMLS:C0266037|UMLS:C4012359	hp.json	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							hposlim_core
HP:0000699	biolink:PhenotypicFeature	Diastema	Increased space between two adjacent teeth in the same dental arch.	MSH:D003970|SNOMEDCT_US:35591002|UMLS:C0011998	hp.json	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							hposlim_core
HP:0000700	biolink:PhenotypicFeature	Periapical bone loss	Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).	MSH:D010484|MSH:D011842|SNOMEDCT_US:81407003|SNOMEDCT_US:89988002|UMLS:C0031029|UMLS:C0034543|UMLS:C1852169|UMLS:C4280609	hp.json	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							
HP:0000703	biolink:PhenotypicFeature	Dentinogenesis imperfecta	Developmental dysplasia of dentin.	MSH:D003811|SNOMEDCT_US:196286005|UMLS:C0011436	hp.json		http://purl.obolibrary.org/obo/HP_0000703							hposlim_core
HP:0000704	biolink:PhenotypicFeature	Periodontitis	Inflammation of the periodontium.	MSH:D005882|MSH:D010510|MSH:D010518|SNOMEDCT_US:18718003|SNOMEDCT_US:2556008|SNOMEDCT_US:41565005|UMLS:C0017563|UMLS:C0031090|UMLS:C0031099	hp.json	Gum disease|Periodontal disease|Pyorrhea	http://purl.obolibrary.org/obo/HP_0000704							hposlim_core
HP:0000705	biolink:PhenotypicFeature	Amelogenesis imperfecta	A developmental dysplasia of the dental enamel.	MSH:D000567|SNOMEDCT_US:78494001|UMLS:C0002452	hp.json		http://purl.obolibrary.org/obo/HP_0000705							hposlim_core
HP:0000706	biolink:PhenotypicFeature	Eruption failure	A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.	SNOMEDCT_US:109542004|UMLS:C1290587	hp.json	Failure of eruption of tooth|Unerupted tooth|Unerupted dentition|Pseudo-anodontia|Pseudoanodontia	http://purl.obolibrary.org/obo/HP_0000706							
HP:0000707	biolink:PhenotypicFeature	Abnormality of the nervous system	An abnormality of the nervous system.	MSH:D009421|SNOMEDCT_US:88425004|UMLS:C0497552	hp.json	Brain and/or spinal cord issue|Abnormality of the nervous system|Neurologic abnormalities|Neurological abnormality	http://purl.obolibrary.org/obo/HP_0000707							
HP:0000708	biolink:PhenotypicFeature	Behavioral abnormality	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.	MSH:D000066553|MSH:D001526|SNOMEDCT_US:25786006|SNOMEDCT_US:277843001|UMLS:C0004941|UMLS:C0233514	hp.json	Behavioral abnormality|Behavioral changes|Behavioral disorders|Behavioral disturbances|Behavioral problems|Behavioral/psychiatric abnormalities|Behavioural/Psychiatric abnormality|Psychiatric disorders|Psychiatric disturbances|Behavioural abnormality|Behavioural changes|Behavioural disorders|Behavioural disturbances|Behavioural problems|Behavioral symptoms|Behavioural symptoms	http://purl.obolibrary.org/obo/HP_0000708							
HP:0000709	biolink:PhenotypicFeature	Psychosis	A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.	MSH:D011618|SNOMEDCT_US:69322001|UMLS:C0033975	hp.json	Psychosis	http://purl.obolibrary.org/obo/HP_0000709							
HP:0000710	biolink:PhenotypicFeature	Hyperorality	A tendency or compulsion to examine objects by mouth.	UMLS:C1838320	hp.json	Hyperoralia	http://purl.obolibrary.org/obo/HP_0000710							
HP:0000711	biolink:PhenotypicFeature	Restlessness	A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.	SNOMEDCT_US:162221009|UMLS:C3887611	hp.json	Restlessness	http://purl.obolibrary.org/obo/HP_0000711							
HP:0000712	biolink:PhenotypicFeature	Emotional lability	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.	SNOMEDCT_US:18963009|UMLS:C0085633	hp.json	Emotional instability|Mood changes|Mood alterations|Mood lability	http://purl.obolibrary.org/obo/HP_0000712							
HP:0000713	biolink:PhenotypicFeature	Agitation	A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.	SNOMEDCT_US:24199005|UMLS:C0085631	hp.json		http://purl.obolibrary.org/obo/HP_0000713							
HP:0000716	biolink:PhenotypicFeature	Depression	Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.	MSH:D003866|SNOMEDCT_US:21061000119107|SNOMEDCT_US:35489007|SNOMEDCT_US:78667006|UMLS:C0011581	hp.json	Depression|Depressivity|Depressive disorder	http://purl.obolibrary.org/obo/HP_0000716							
HP:0000717	biolink:PhenotypicFeature	Autism	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).	MSH:D001321|SNOMEDCT_US:408856003|SNOMEDCT_US:408857007|SNOMEDCT_US:43614003|UMLS:C0004352	hp.json	Autism	http://purl.obolibrary.org/obo/HP_0000717							
HP:0000718	biolink:PhenotypicFeature	Aggressive behavior	Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.	MSH:D000374|SNOMEDCT_US:248004009|SNOMEDCT_US:61372001|UMLS:C0001807|UMLS:C0424323|UMLS:C1457883	hp.json	Aggression|Aggressive behavior|Aggressive behaviour|Aggressiveness|physical aggression	http://purl.obolibrary.org/obo/HP_0000718							
HP:0000719	biolink:PhenotypicFeature	Inappropriate behavior		SNOMEDCT_US:112082005|UMLS:C0233522	hp.json	Inappropriate behavior|Inappropriate behaviour	http://purl.obolibrary.org/obo/HP_0000719							
HP:0000720	biolink:PhenotypicFeature	Mood swings	An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.	SNOMEDCT_US:18963009|UMLS:C0085633	hp.json	Mood swings	http://purl.obolibrary.org/obo/HP_0000720							
HP:0000721	biolink:PhenotypicFeature	Lack of spontaneous play		UMLS:C1837650	hp.json	Lack of spontaneous play	http://purl.obolibrary.org/obo/HP_0000721							
HP:0000722	biolink:PhenotypicFeature	Obsessive-compulsive behavior	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).	MSH:D003192|MSH:D009771|SNOMEDCT_US:12479006|SNOMEDCT_US:191736004|UMLS:C0028768|UMLS:C0600104	hp.json	Obsessive compulsive behavior|Obsessive-compulsive behavior|Obsessive compulsive behaviour|Obsessive-compulsive behaviour|OCD|Obsessive compulsive disorder|Obsessive-compulsive disorder	http://purl.obolibrary.org/obo/HP_0000722							
HP:0000723	biolink:PhenotypicFeature	Restrictive behavior	Behavior characterized by an abnormal limitation to few interests and activities.	UMLS:C2675334|UMLS:C4021799	hp.json	Restricted behaviour|Restricted behavior|Restrictive behaviour|Restrictive behavior, interests, and activities	http://purl.obolibrary.org/obo/HP_0000723							
HP:0000725	biolink:PhenotypicFeature	Psychotic episodes		UMLS:C0338614	hp.json	Psychotic episodes	http://purl.obolibrary.org/obo/HP_0000725							
HP:0000726	biolink:PhenotypicFeature	Dementia	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.	MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327	hp.json	Dementia|Dementia, progressive|Progressive dementia	http://purl.obolibrary.org/obo/HP_0000726							
HP:0000727	biolink:PhenotypicFeature	Frontal lobe dementia		SNOMEDCT_US:278857002|UMLS:C0338455	hp.json		http://purl.obolibrary.org/obo/HP_0000727							
HP:0000728	biolink:PhenotypicFeature	Impaired ability to form peer relationships		UMLS:C1837649	hp.json		http://purl.obolibrary.org/obo/HP_0000728							
HP:0000729	biolink:PhenotypicFeature	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.	MSH:D000067877|UMLS:C0856975|UMLS:C1510586	hp.json	ASD|Autistic behaviour|Autism spectrum disorder|Autism spectrum disorders|Autistic behaviours|Pervasive developmental disorder|Autistic behaviors	http://purl.obolibrary.org/obo/HP_0000729							
HP:0000732	biolink:PhenotypicFeature	Inflexible adherence to routines or rituals		UMLS:C1837653	hp.json		http://purl.obolibrary.org/obo/HP_0000732							
HP:0000733	biolink:PhenotypicFeature	Stereotypy	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.	MSH:D013239|MSH:D019956|SNOMEDCT_US:5507002|SNOMEDCT_US:84328007|UMLS:C0038271|UMLS:C0038273	hp.json	Repetitive movements|Repetitive or self-injurious behavior|Stereotypic behaviors|Repetitive or self-injurious behaviour|Stereotyped behaviour|Stereotypic behaviour|Stereotypic behaviours|Stereotypical motor behaviours|Stereotyped behaviours|Stereotyped behavior|Stereotyped, repetitive behavior|Stereotyped, repetitive behaviour|Stereotypic behavior|Stereotypical motor behavior|Stereotypical motor behaviors|Stereotyped behaviors	http://purl.obolibrary.org/obo/HP_0000733							
HP:0000734	biolink:PhenotypicFeature	Disinhibition	A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.	SNOMEDCT_US:247977003|UMLS:C0424296	hp.json	Disinhibition	http://purl.obolibrary.org/obo/HP_0000734							
HP:0000735	biolink:PhenotypicFeature	Impaired social interactions	Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.	MSH:D000067404|SNOMEDCT_US:88598008|UMLS:C0150080	hp.json	Impaired social interaction|Impaired social interactions|Poor social interactions	http://purl.obolibrary.org/obo/HP_0000735							
HP:0000736	biolink:PhenotypicFeature	Short attention span	Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.	SNOMEDCT_US:247762003|UMLS:C0262630	hp.json	Easily distracted|Poor attention span|Problem paying attention|Short attention span	http://purl.obolibrary.org/obo/HP_0000736							
HP:0000737	biolink:PhenotypicFeature	Irritability	A proneness to anger, i.e., a condition of being easily bothered or annoyed.	UMLS:C2700617	hp.json	Irritability|Irritable	http://purl.obolibrary.org/obo/HP_0000737							
HP:0000738	biolink:PhenotypicFeature	Hallucinations	Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.	MSH:D006212|SNOMEDCT_US:7011001|UMLS:C0018524|UMLS:C0235153	hp.json	Hallucination|Hallucinations|Sensory hallucination	http://purl.obolibrary.org/obo/HP_0000738							
HP:0000739	biolink:PhenotypicFeature	Anxiety	Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.	MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467|UMLS:C4020884	hp.json	Anxiety|Excessive, persistent worry and fear|Anxiety disease|Anxiousness	http://purl.obolibrary.org/obo/HP_0000739							
HP:0000740	biolink:PhenotypicFeature	Episodic paroxysmal anxiety	Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.	UMLS:C1854339	hp.json		http://purl.obolibrary.org/obo/HP_0000740							
HP:0000741	biolink:PhenotypicFeature	Apathy		MSH:D057565|SNOMEDCT_US:20602000|UMLS:C0085632	hp.json	Lack of feeling, emotion, interest	http://purl.obolibrary.org/obo/HP_0000741							
HP:0000742	biolink:PhenotypicFeature	Self-mutilation		MSH:D012652|SNOMEDCT_US:130968006|UMLS:C0036601	hp.json	Deliberate self-harm|Self mutilation|Self-mutilation	http://purl.obolibrary.org/obo/HP_0000742							
HP:0000743	biolink:PhenotypicFeature	Frontal release signs	Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.	UMLS:C1833297	hp.json	Frontal release reflexes	http://purl.obolibrary.org/obo/HP_0000743							
HP:0000744	biolink:PhenotypicFeature	Low frustration tolerance	The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.	UMLS:C0548883	hp.json		http://purl.obolibrary.org/obo/HP_0000744							
HP:0000745	biolink:PhenotypicFeature	Diminished motivation	A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.	SNOMEDCT_US:277521002|UMLS:C0456814	hp.json	Diminished motivation|Lack of initiative|Lack of motivation|Lacking in initiative|Lacks initiative	http://purl.obolibrary.org/obo/HP_0000745							
HP:0000746	biolink:PhenotypicFeature	Delusions	A false belief that is held despite evidence to the contrary.	MSH:D003702|SNOMEDCT_US:2073000|UMLS:C0011253	hp.json	Delusions	http://purl.obolibrary.org/obo/HP_0000746							
HP:0000748	biolink:PhenotypicFeature	Inappropriate laughter		SNOMEDCT_US:247985007|UMLS:C0424304	hp.json	Inappropriate laughter	http://purl.obolibrary.org/obo/HP_0000748							
HP:0000749	biolink:PhenotypicFeature	Paroxysmal bursts of laughter		UMLS:C1839749	hp.json	Paroxysmal laughter	http://purl.obolibrary.org/obo/HP_0000749							
HP:0000750	biolink:PhenotypicFeature	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.	MSH:D007805|SNOMEDCT_US:162294008|SNOMEDCT_US:229721007|SNOMEDCT_US:29164008|SNOMEDCT_US:62415009|UMLS:C0023012|UMLS:C0233715|UMLS:C0241210|UMLS:C0454644	hp.json	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							
HP:0000751	biolink:PhenotypicFeature	Personality changes	An abnormal shift in patterns of thinking, acting, or feeling.	SNOMEDCT_US:102943000|SNOMEDCT_US:192073007|UMLS:C0240735	hp.json	Personality change|Personality changes	http://purl.obolibrary.org/obo/HP_0000751							
HP:0000752	biolink:PhenotypicFeature	Hyperactivity	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.	MSH:D006948|SNOMEDCT_US:44548000|UMLS:C0424295	hp.json	More active than typical|Hyperactive behaviour|Hyperactive behavior	http://purl.obolibrary.org/obo/HP_0000752							
HP:0000753	biolink:PhenotypicFeature	Autism with high cognitive abilities		UMLS:C4025832	hp.json		http://purl.obolibrary.org/obo/HP_0000753							
HP:0000756	biolink:PhenotypicFeature	Agoraphobia	A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.	MSH:D000379|SNOMEDCT_US:247830007|SNOMEDCT_US:70691001|UMLS:C0001818	hp.json	Fear of open spaces	http://purl.obolibrary.org/obo/HP_0000756							
HP:0000757	biolink:PhenotypicFeature	Lack of insight		SNOMEDCT_US:24340004|UMLS:C0233824	hp.json	Lack of insight	http://purl.obolibrary.org/obo/HP_0000757							
HP:0000758	biolink:PhenotypicFeature	Impaired use of nonverbal behaviors	Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.	UMLS:C4021798	hp.json	Impaired use of nonverbal behaviors|Impaired use of nonverbal behaviours	http://purl.obolibrary.org/obo/HP_0000758							
HP:0000759	biolink:PhenotypicFeature	Abnormal peripheral nervous system morphology	A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).	MSH:D010523|SNOMEDCT_US:302226006|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C4025831	hp.json	Abnormal peripheral nervous system structure|Peripheral nervous system disease	http://purl.obolibrary.org/obo/HP_0000759							
HP:0000762	biolink:PhenotypicFeature	Decreased nerve conduction velocity	A reduction in the speed at which electrical signals propagate along the axon of a neuron.	UMLS:C1857640	hp.json	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							
HP:0000763	biolink:PhenotypicFeature	Sensory neuropathy	Peripheral neuropathy affecting the sensory nerves.	SNOMEDCT_US:95662005|UMLS:C0151313	hp.json	Damage to nerves that sense feeling|Peripheral sensory neuropathy	http://purl.obolibrary.org/obo/HP_0000763							
HP:0000764	biolink:PhenotypicFeature	Peripheral axonal degeneration	Progressive deterioration of peripheral axons.	UMLS:C4025830	hp.json		http://purl.obolibrary.org/obo/HP_0000764							
HP:0000765	biolink:PhenotypicFeature	Abnormal thorax morphology	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).	UMLS:C4021797	hp.json	Abnormality of the chest|Abnormality of the thorax|Structural abnormality of the chest wall	http://purl.obolibrary.org/obo/HP_0000765							
HP:0000766	biolink:PhenotypicFeature	Abnormal sternum morphology	An anomaly of the sternum, also known as the breastbone.	UMLS:C1860493	hp.json	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							hposlim_core
HP:0000767	biolink:PhenotypicFeature	Pectus excavatum	A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.	SNOMEDCT_US:391987005|UMLS:C2051831	hp.json	Funnel chest	http://purl.obolibrary.org/obo/HP_0000767							hposlim_core
HP:0000768	biolink:PhenotypicFeature	Pectus carinatum	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.	MSH:D066166|SNOMEDCT_US:205101001|UMLS:C0158731	hp.json	Pigeon chest	http://purl.obolibrary.org/obo/HP_0000768							hposlim_core
HP:0000769	biolink:PhenotypicFeature	Abnormality of the breast	An abnormality of the breast.	UMLS:C4025829	hp.json	Abnormality of the breast	http://purl.obolibrary.org/obo/HP_0000769							hposlim_core
HP:0000771	biolink:PhenotypicFeature	Gynecomastia	Abnormal development of large mammary glands in males resulting in breast enlargement.	MSH:D006177|SNOMEDCT_US:4754008|UMLS:C0018418	hp.json	Enlarged male breast|Gynaecomastia	http://purl.obolibrary.org/obo/HP_0000771							hposlim_core
HP:0000772	biolink:PhenotypicFeature	Abnormality of the ribs	An anomaly of the rib.	UMLS:C1842083	hp.json	Abnormality of the ribs|Rib abnormalities|Rib anomalies	http://purl.obolibrary.org/obo/HP_0000772							hposlim_core
HP:0000773	biolink:PhenotypicFeature	Short ribs	Reduced rib length.	SNOMEDCT_US:249696007|UMLS:C0426817	hp.json	Short ribs|Hypoplastic ribs|Rib hypoplasia	http://purl.obolibrary.org/obo/HP_0000773							
HP:0000774	biolink:PhenotypicFeature	Narrow chest	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.	SNOMEDCT_US:249671009|UMLS:C0426790	hp.json	Low chest circumference|Narrow chest|Narrow shoulders|Narrow thorax|Reduced anterior-posterior chest diameter	http://purl.obolibrary.org/obo/HP_0000774							
HP:0000775	biolink:PhenotypicFeature	Abnormality of the diaphragm	Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.	UMLS:C1848873	hp.json	Abnormality of the diaphragm|Diaphragm issues|Diaphragmatic defect	http://purl.obolibrary.org/obo/HP_0000775							
HP:0000776	biolink:PhenotypicFeature	Congenital diaphragmatic hernia	The presence of a hernia of the diaphragm present at birth.	MSH:D065630|SNOMEDCT_US:17190001|UMLS:C0235833	hp.json	Diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0000776							
HP:0000777	biolink:PhenotypicFeature	Abnormality of the thymus	Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.	SNOMEDCT_US:93297002|UMLS:C0262650|UMLS:C0685891	hp.json	Abnormality of the thymus	http://purl.obolibrary.org/obo/HP_0000777							
HP:0000778	biolink:PhenotypicFeature	Hypoplasia of the thymus	Underdevelopment of the thymus.	SNOMEDCT_US:93297002|UMLS:C0685891|UMLS:C4228227	hp.json	Small thymus|Thymic hypoplasia|Thymus hypoplasia	http://purl.obolibrary.org/obo/HP_0000778							
HP:0000782	biolink:PhenotypicFeature	Abnormal scapula morphology	Any abnormality of the scapula, also known as the shoulder blade.	UMLS:C4025828	hp.json	Abnormality of the shoulder blade	http://purl.obolibrary.org/obo/HP_0000782							hposlim_core
HP:0000786	biolink:PhenotypicFeature	Primary amenorrhea		SNOMEDCT_US:8913004|UMLS:C0232939	hp.json		http://purl.obolibrary.org/obo/HP_0000786							
HP:0000787	biolink:PhenotypicFeature	Nephrolithiasis	The presence of calculi (stones) in the kidneys.	MSH:D053040|UMLS:C0392525	hp.json	Kidney stones|Renal calculi|Renal stones	http://purl.obolibrary.org/obo/HP_0000787							
HP:0000789	biolink:PhenotypicFeature	Infertility		MSH:D007246|SNOMEDCT_US:15296000|SNOMEDCT_US:8619003|UMLS:C0021359	hp.json	Infertility	http://purl.obolibrary.org/obo/HP_0000789							
HP:0000790	biolink:PhenotypicFeature	Hematuria	The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).	MSH:D006417|SNOMEDCT_US:34436003|SNOMEDCT_US:53298000|UMLS:C0018965	hp.json	High urine occult blood|Blood in urine	http://purl.obolibrary.org/obo/HP_0000790							
HP:0000791	biolink:PhenotypicFeature	Uric acid nephrolithiasis	The presence of uric acid-containing calculi (stones) in the kidneys.	SNOMEDCT_US:267441009|UMLS:C0403719	hp.json	Uric acid stones|Uric acid urolithiasis	http://purl.obolibrary.org/obo/HP_0000791							
HP:0000793	biolink:PhenotypicFeature	Membranoproliferative glomerulonephritis	A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity	MSH:D015432|SNOMEDCT_US:80321008|UMLS:C0017662	hp.json	MPGN|Mesangiocapillary glomerulonephritis	http://purl.obolibrary.org/obo/HP_0000793							
HP:0000794	biolink:PhenotypicFeature	IgA deposition in the glomerulus	The presence of immunoglobulin A deposits in the glomerulus.	MSH:D005922|SNOMEDCT_US:236407003|SNOMEDCT_US:68779003|UMLS:C0017661|UMLS:C4025827	hp.json	IgA nephropathy	http://purl.obolibrary.org/obo/HP_0000794							
HP:0000795	biolink:PhenotypicFeature	Abnormality of the urethra	An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.	UMLS:C4025826	hp.json	Urethra issue	http://purl.obolibrary.org/obo/HP_0000795							
HP:0000796	biolink:PhenotypicFeature	Urethral obstruction	Obstruction of the flow of urine through the urethra.	MSH:D014524|SNOMEDCT_US:95588004|UMLS:C0041972	hp.json		http://purl.obolibrary.org/obo/HP_0000796							
HP:0000798	biolink:PhenotypicFeature	Oligospermia	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.	MSH:D009845|UMLS:C0028960	hp.json	Low sperm count	http://purl.obolibrary.org/obo/HP_0000798							
HP:0000799	biolink:PhenotypicFeature	Renal steatosis	Abnormal fat accumulation in the kidneys.	UMLS:C4021796	hp.json	Fatty kidney	http://purl.obolibrary.org/obo/HP_0000799							
HP:0000800	biolink:PhenotypicFeature	Cystic renal dysplasia		UMLS:C1834931	hp.json	Bilateral cystic dysplasia|Renal cystic dysplasia|Renal dysplasia, cystic	http://purl.obolibrary.org/obo/HP_0000800							
HP:0000802	biolink:PhenotypicFeature	Impotence	Inability to develop or maintain an erection of the penis.	MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350	hp.json	Difficulty getting a full erection|Difficulty getting an erection	http://purl.obolibrary.org/obo/HP_0000802							
HP:0000803	biolink:PhenotypicFeature	Renal cortical cysts	Cysts of the cortex of the kidney.	UMLS:C1969144	hp.json	Cortical cysts	http://purl.obolibrary.org/obo/HP_0000803							
HP:0000804	biolink:PhenotypicFeature	Xanthine nephrolithiasis	The presence of xanthine-containing calculi (stones) in the kidneys.	UMLS:C1848431	hp.json	Urinary xanthine stones|Xanthine stones	http://purl.obolibrary.org/obo/HP_0000804							
HP:0000805	biolink:PhenotypicFeature	Enuresis	Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.	MSH:D004775|SNOMEDCT_US:8009008|UMLS:C0014394	hp.json		http://purl.obolibrary.org/obo/HP_0000805							
HP:0000807	biolink:PhenotypicFeature	Glandular hypospadias		SNOMEDCT_US:204891000|SNOMEDCT_US:429631000124104|UMLS:C0452168	hp.json		http://purl.obolibrary.org/obo/HP_0000807							
HP:0000808	biolink:PhenotypicFeature	Penoscrotal hypospadias	A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.	SNOMEDCT_US:204889008|UMLS:C0452147	hp.json		http://purl.obolibrary.org/obo/HP_0000808							
HP:0000809	biolink:PhenotypicFeature	Urinary tract atresia	Congenital absence of the normal opening of a structure of the urinary tract.	UMLS:C1389003	hp.json		http://purl.obolibrary.org/obo/HP_0000809							
HP:0000811	biolink:PhenotypicFeature	Abnormal external genitalia		UMLS:C4025825	hp.json	Abnormal external genitalia	http://purl.obolibrary.org/obo/HP_0000811							
HP:0000812	biolink:PhenotypicFeature	Abnormal internal genitalia	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).	UMLS:C4025824	hp.json	Abnormal internal genitalia	http://purl.obolibrary.org/obo/HP_0000812							
HP:0000813	biolink:PhenotypicFeature	Bicornuate uterus	The presence of a bicornuate uterus.	SNOMEDCT_US:31401003|UMLS:C0266387	hp.json	Heart shaped uterus|Heart-shaped uterus|Uterus bicornis	http://purl.obolibrary.org/obo/HP_0000813							
HP:0000815	biolink:PhenotypicFeature	Hypergonadotropic hypogonadism	Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.	MSH:D007006|SNOMEDCT_US:370999003|UMLS:C0948896	hp.json	Hypergonadotrophic hypogonadism|Primary hypogonadism	http://purl.obolibrary.org/obo/HP_0000815							
HP:0000816	biolink:PhenotypicFeature	Abnormality of Krebs cycle metabolism	An abnormality of the tricarboxylic acid cycle.	UMLS:C4021795	hp.json	Abnormality of citric acid cycle|Abnormality of the tricarboxylic cycle	http://purl.obolibrary.org/obo/HP_0000816							
HP:0000817	biolink:PhenotypicFeature	Poor eye contact	Difficulty in looking at another person in the eye.	SNOMEDCT_US:412786000|UMLS:C1445953	hp.json	Poor eye contact	http://purl.obolibrary.org/obo/HP_0000817							
HP:0000818	biolink:PhenotypicFeature	Abnormality of the endocrine system	An abnormality of the endocrine system.	MSH:D004700|SNOMEDCT_US:362969004|UMLS:C0014130|UMLS:C4025823	hp.json	Endocrine system disease	http://purl.obolibrary.org/obo/HP_0000818							
HP:0000819	biolink:PhenotypicFeature	Diabetes mellitus	A group of abnormalities characterized by hyperglycemia and glucose intolerance.	MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849	hp.json		http://purl.obolibrary.org/obo/HP_0000819							
HP:0000820	biolink:PhenotypicFeature	Abnormality of the thyroid gland	An abnormality of the thyroid gland.	MSH:D013959|SNOMEDCT_US:14304000|UMLS:C0040128	hp.json	Abnormality of the thyroid gland|Thyroid abnormality|Thyroid disease	http://purl.obolibrary.org/obo/HP_0000820							
HP:0000821	biolink:PhenotypicFeature	Hypothyroidism	Deficiency of thyroid hormone.	MSH:D007037|SNOMEDCT_US:40930008|UMLS:C0020676	hp.json	Underactive thyroid|Low T4	http://purl.obolibrary.org/obo/HP_0000821							
HP:0000822	biolink:PhenotypicFeature	Hypertension	The presence of chronic increased pressure in the systemic arterial system.	MSH:D006973|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003|UMLS:C0020538|UMLS:C0497247	hp.json	High blood pressure|Arterial hypertension|Systemic hypertension	http://purl.obolibrary.org/obo/HP_0000822							
HP:0000823	biolink:PhenotypicFeature	Delayed puberty	Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.	MSH:D011628|SNOMEDCT_US:123526007|SNOMEDCT_US:400003000|UMLS:C0034012	hp.json	Delayed pubertal development|Delayed pubertal growth|Delayed puberty|Pubertal delay	http://purl.obolibrary.org/obo/HP_0000823							
HP:0000824	biolink:PhenotypicFeature	Decreased response to growth hormone stimuation test	Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.	SNOMEDCT_US:2109003|UMLS:C3714796	hp.json	Growth hormone deficiency|Somatotropin deficiency	http://purl.obolibrary.org/obo/HP_0000824							
HP:0000825	biolink:PhenotypicFeature	Hyperinsulinemic hypoglycemia	An increased concentration of insulin combined with a decreased concentration of glucose in the blood.	UMLS:C1864903	hp.json	Hyperinsulinaemic hypoglycaemia|Hyperinsulinemia hypoglycemia	http://purl.obolibrary.org/obo/HP_0000825							
HP:0000826	biolink:PhenotypicFeature	Precocious puberty	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.	MSH:D011629|SNOMEDCT_US:123527003|SNOMEDCT_US:400179000|UMLS:C0034013	hp.json	Early onset of puberty|Early puberty	http://purl.obolibrary.org/obo/HP_0000826							
HP:0000828	biolink:PhenotypicFeature	Abnormality of the parathyroid gland	An abnormality of the parathyroid gland.	MSH:D010279|SNOMEDCT_US:73132005|UMLS:C0030517|UMLS:C4025822	hp.json	Parathyroid disease	http://purl.obolibrary.org/obo/HP_0000828							
HP:0000829	biolink:PhenotypicFeature	Hypoparathyroidism	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.	MSH:D007011|SNOMEDCT_US:36976004|UMLS:C0020626	hp.json	Decreased parathyroid hormone secretion|Low parathyroid hormone	http://purl.obolibrary.org/obo/HP_0000829							
HP:0000830	biolink:PhenotypicFeature	Anterior hypopituitarism	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.	UMLS:C4025821	hp.json		http://purl.obolibrary.org/obo/HP_0000830							
HP:0000831	biolink:PhenotypicFeature	Insulin-resistant diabetes mellitus	A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.	UMLS:C0854110	hp.json	Insulin resistant diabetes|Insulin-resistant diabetes|Insulin resistant diabetes mellitus	http://purl.obolibrary.org/obo/HP_0000831							
HP:0000832	biolink:PhenotypicFeature	Primary hypothyroidism	A type of hypothyroidism that results from a defect in the thyroid gland.	SNOMEDCT_US:111566002|UMLS:C0700502	hp.json		http://purl.obolibrary.org/obo/HP_0000832							
HP:0000833	biolink:PhenotypicFeature	obsolete Glucose intolerance			hp.json		http://purl.obolibrary.org/obo/HP_0000833							
HP:0000834	biolink:PhenotypicFeature	Abnormality of the adrenal glands	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.	MSH:D000307|SNOMEDCT_US:30171000|UMLS:C0001621|UMLS:C4021794	hp.json	Adrenal abnormalities|Adrenal gland disease	http://purl.obolibrary.org/obo/HP_0000834							
HP:0000835	biolink:PhenotypicFeature	Adrenal hypoplasia	Developmental hypoplasia of the adrenal glands.	MSH:C538429|SNOMEDCT_US:237774001|UMLS:C0342491|UMLS:C1846223	hp.json	Small adrenal glands|Adrenal gland hypoplasia|Hypoplastic adrenal glands|Underdeveloped adrenal glands	http://purl.obolibrary.org/obo/HP_0000835							
HP:0000836	biolink:PhenotypicFeature	Hyperthyroidism	An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).	MSH:D006980|SNOMEDCT_US:34486009|UMLS:C0020550	hp.json	Overactive thyroid	http://purl.obolibrary.org/obo/HP_0000836							
HP:0000837	biolink:PhenotypicFeature	Increased circulating gonadotropin level	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.	UMLS:C1862265	hp.json	Elevated gonadotropins|Elevated serum gonadotropins|Gonadotropin excess|Increased circulating gonadotropin level	http://purl.obolibrary.org/obo/HP_0000837							
HP:0000839	biolink:PhenotypicFeature	Pituitary dwarfism	A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.	MSH:D004393|SNOMEDCT_US:367460001|SNOMEDCT_US:7530009|UMLS:C0013338	hp.json		http://purl.obolibrary.org/obo/HP_0000839							
HP:0000840	biolink:PhenotypicFeature	Adrenogenital syndrome	Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.	MSH:D047808|SNOMEDCT_US:237751000|SNOMEDCT_US:267395000|SNOMEDCT_US:271077003|UMLS:C0302280	hp.json		http://purl.obolibrary.org/obo/HP_0000840							
HP:0000841	biolink:PhenotypicFeature	Hyperactive renin-angiotensin system	An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.	UMLS:C1846345|UMLS:C3150267	hp.json	Increased plasma renin activity	http://purl.obolibrary.org/obo/HP_0000841							
HP:0000842	biolink:PhenotypicFeature	Hyperinsulinemia	An increased concentration of insulin in the blood.	MSH:D006946|SNOMEDCT_US:83469008|UMLS:C0020459	hp.json	Elevated insulin level	http://purl.obolibrary.org/obo/HP_0000842							
HP:0000843	biolink:PhenotypicFeature	Hyperparathyroidism	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.	MSH:D006961|SNOMEDCT_US:66999008|UMLS:C0020502	hp.json	Elevated blood parathyroid hormone level	http://purl.obolibrary.org/obo/HP_0000843							
HP:0000845	biolink:PhenotypicFeature	Elevated circulating growth hormone concentration	Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.	MSH:C531600|MSH:D000172|SNOMEDCT_US:74107003|UMLS:C0001206|UMLS:C0235986	hp.json	Growth hormone excess|Elevated circulating somatotropin concentration|Somatotropin excess	http://purl.obolibrary.org/obo/HP_0000845							
HP:0000846	biolink:PhenotypicFeature	Adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.	MSH:D000309|SNOMEDCT_US:111563005|SNOMEDCT_US:237785004|SNOMEDCT_US:386584007|UMLS:C0001623	hp.json	Hypoadrenalism	http://purl.obolibrary.org/obo/HP_0000846							
HP:0000847	biolink:PhenotypicFeature	Abnormality of renin-angiotensin system	An abnormality of the renin-angiotensin system.	UMLS:C4021793	hp.json	Abnormality of the renin-aldosterone axis	http://purl.obolibrary.org/obo/HP_0000847							
HP:0000848	biolink:PhenotypicFeature	Increased circulating renin level	An increased level of renin in the blood.	UMLS:C0240783	hp.json	Elevated blood renin level|Elevated plasma renin|Hyperreninemia|Increased plasma renin|Increased serum renin	http://purl.obolibrary.org/obo/HP_0000848							
HP:0000849	biolink:PhenotypicFeature	Adrenocortical abnormality		UMLS:C4025820	hp.json		http://purl.obolibrary.org/obo/HP_0000849							
HP:0000851	biolink:PhenotypicFeature	Congenital hypothyroidism	A type of hypothyroidism with congenital onset.	MSH:D003409|SNOMEDCT_US:190268003|SNOMEDCT_US:217710005|UMLS:C0010308	hp.json	Underactive thyroid gland from birth|Hypothyroidism, congenital	http://purl.obolibrary.org/obo/HP_0000851							
HP:0000852	biolink:PhenotypicFeature	Pseudohypoparathyroidism	A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.	MSH:D011547|SNOMEDCT_US:58976002|UMLS:C0033806	hp.json		http://purl.obolibrary.org/obo/HP_0000852							
HP:0000853	biolink:PhenotypicFeature	Goiter	An enlargement of the thyroid gland.	MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021	hp.json	Enlarged thyroid gland in neck|Goitre|Thyroid goitre|Thyroid goiter	http://purl.obolibrary.org/obo/HP_0000853							
HP:0000854	biolink:PhenotypicFeature	Thyroid adenoma	The presence of a adenoma of the thyroid gland.	MSH:D013964|NCIT:C2855|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|UMLS:C0151468	hp.json		http://purl.obolibrary.org/obo/HP_0000854							
HP:0000855	biolink:PhenotypicFeature	Insulin resistance	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.	MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655	hp.json	Body fails to respond to insulin	http://purl.obolibrary.org/obo/HP_0000855							
HP:0000857	biolink:PhenotypicFeature	Neonatal insulin-dependent diabetes mellitus		UMLS:C3278636	hp.json		http://purl.obolibrary.org/obo/HP_0000857							
HP:0000858	biolink:PhenotypicFeature	Irregular menstruation	Abnormally high variation in the amount of time between periods.	SNOMEDCT_US:80182007|UMLS:C0156404	hp.json	Menstrual irregularity|Irregular menses|Irregular periods|Menstrual irregularities	http://purl.obolibrary.org/obo/HP_0000858							
HP:0000859	biolink:PhenotypicFeature	Hyperaldosteronism	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.	MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428	hp.json	Elevated plasma aldosterone|Increased aldosterone|Increased aldosterone production|Mineralocorticoid excess	http://purl.obolibrary.org/obo/HP_0000859							
HP:0000860	biolink:PhenotypicFeature	Parathyroid hypoplasia	Developmental hypoplasia of the parathyroid gland.	UMLS:C1389851	hp.json	Small parathyroid glands|Underdeveloped parathyroid glands	http://purl.obolibrary.org/obo/HP_0000860							
HP:0000863	biolink:PhenotypicFeature	Central diabetes insipidus	A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.	MSH:D020790|SNOMEDCT_US:45369008|UMLS:C0687720	hp.json	Neurohypophyseal diabetes insipidus	http://purl.obolibrary.org/obo/HP_0000863							
HP:0000864	biolink:PhenotypicFeature	Abnormality of the hypothalamus-pituitary axis	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.	UMLS:C4025819	hp.json		http://purl.obolibrary.org/obo/HP_0000864							
HP:0000866	biolink:PhenotypicFeature	Euthyroid multinodular goiter		UMLS:C1846034	hp.json	Euthyroid multinodular goitre	http://purl.obolibrary.org/obo/HP_0000866							
HP:0000867	biolink:PhenotypicFeature	Secondary hyperparathyroidism	Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.	MSH:D006962|SNOMEDCT_US:91478007|UMLS:C0020503	hp.json		http://purl.obolibrary.org/obo/HP_0000867							
HP:0000868	biolink:PhenotypicFeature	Decreased fertility in females		UMLS:C0151639	hp.json	Decreased fertility in females|Reduced fertility in females	http://purl.obolibrary.org/obo/HP_0000868							
HP:0000869	biolink:PhenotypicFeature	Secondary amenorrhea		SNOMEDCT_US:86030004|UMLS:C0232940	hp.json	Previous menstrual periods stop	http://purl.obolibrary.org/obo/HP_0000869							
HP:0000870	biolink:PhenotypicFeature	Increased circulating prolactin concentration	The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.	MSH:D006966|SNOMEDCT_US:237662005|UMLS:C0020514	hp.json	Hyperprolactinaemia|Hyperprolactinemia|Prolactin excess	http://purl.obolibrary.org/obo/HP_0000870							
HP:0000871	biolink:PhenotypicFeature	Panhypopituitarism	A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).	MSH:C580003|SNOMEDCT_US:32390006|UMLS:C0242343	hp.json		http://purl.obolibrary.org/obo/HP_0000871							
HP:0000872	biolink:PhenotypicFeature	Hashimoto thyroiditis	A chronic, autoimmune type of thyroiditis associated with hypothyroidism.	MSH:D050031|SNOMEDCT_US:21983002|UMLS:C0677607	hp.json	Chronic lymphocytic thyroiditis|Hashimoto's thyroiditis	http://purl.obolibrary.org/obo/HP_0000872							
HP:0000873	biolink:PhenotypicFeature	Diabetes insipidus	A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).	MSH:D003919|SNOMEDCT_US:15771004|UMLS:C0011848	hp.json		http://purl.obolibrary.org/obo/HP_0000873							
HP:0000875	biolink:PhenotypicFeature	Episodic hypertension		UMLS:C1857175	hp.json	Intermittent high blood pressure	http://purl.obolibrary.org/obo/HP_0000875							
HP:0000876	biolink:PhenotypicFeature	Oligomenorrhea	Infrequent menses (less than 6 per year or more than 35 days between cycles).	MSH:D009839|SNOMEDCT_US:52073004|UMLS:C0028949	hp.json	Light or infrequent menstrual periods	http://purl.obolibrary.org/obo/HP_0000876							
HP:0000877	biolink:PhenotypicFeature	Insulin-resistant diabetes mellitus at puberty		UMLS:C1837792	hp.json	Insulin-resistant diabetes mellitus at puberty	http://purl.obolibrary.org/obo/HP_0000877							
HP:0000878	biolink:PhenotypicFeature	11 pairs of ribs	Presence of only 11 pairs of ribs.	UMLS:C1839731	hp.json	11 pairs of ribs	http://purl.obolibrary.org/obo/HP_0000878							hposlim_core
HP:0000879	biolink:PhenotypicFeature	Short sternum	Decreased inferosuperior length of the sternum.	SNOMEDCT_US:298724002|UMLS:C0575497|UMLS:C4020883	hp.json	Short sternum|Hypoplastic sternum	http://purl.obolibrary.org/obo/HP_0000879							hposlim_core
HP:0000882	biolink:PhenotypicFeature	Hypoplastic scapulae	Underdeveloped scapula.	UMLS:C1846434	hp.json	Small shoulder blade|Hypoplastic scapula|Scapular hypoplasia|Short scapulae|Small scapula|Small scapulae	http://purl.obolibrary.org/obo/HP_0000882							hposlim_core
HP:0000883	biolink:PhenotypicFeature	Thin ribs	Ribs with a reduced diameter.	SNOMEDCT_US:249697003|UMLS:C0426818	hp.json	Slender ribs|Thin ribs	http://purl.obolibrary.org/obo/HP_0000883							hposlim_core
HP:0000884	biolink:PhenotypicFeature	Prominent sternum		UMLS:C1846433	hp.json	Prominent sternum|Sternal protrusion	http://purl.obolibrary.org/obo/HP_0000884							
HP:0000885	biolink:PhenotypicFeature	Broad ribs	Increased width of ribs	UMLS:C1848654	hp.json	Broad ribs|Wide ribs	http://purl.obolibrary.org/obo/HP_0000885							hposlim_core
HP:0000886	biolink:PhenotypicFeature	Deformed rib cage	Malformation of the rib cage.	UMLS:C1838659	hp.json	Deformed rib cage	http://purl.obolibrary.org/obo/HP_0000886							
HP:0000887	biolink:PhenotypicFeature	Cupped ribs	Wide, concave rib end.	SNOMEDCT_US:249704008|UMLS:C0426826|UMLS:C1865039	hp.json	Cupped ribs|Rib cupping|Rib flaring	http://purl.obolibrary.org/obo/HP_0000887							hposlim_core
HP:0000888	biolink:PhenotypicFeature	Horizontal ribs	A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.	UMLS:C3806510	hp.json	Horizontal ribs	http://purl.obolibrary.org/obo/HP_0000888							
HP:0000889	biolink:PhenotypicFeature	Abnormal clavicle morphology	Any abnormality of the clavicles (collar bones).	UMLS:C4021792	hp.json	Abnormal collarbone|Abnormal clavicles|Abnormality of the clavicle	http://purl.obolibrary.org/obo/HP_0000889							hposlim_core
HP:0000890	biolink:PhenotypicFeature	Long clavicles	Increased length of the clavicles.	SNOMEDCT_US:249687007|UMLS:C0426808	hp.json	Long collarbone|Elongated clavicles	http://purl.obolibrary.org/obo/HP_0000890							
HP:0000891	biolink:PhenotypicFeature	Cervical ribs		MSH:D057070|SNOMEDCT_US:72535009|UMLS:C0158779	hp.json		http://purl.obolibrary.org/obo/HP_0000891							hposlim_core
HP:0000892	biolink:PhenotypicFeature	Bifid ribs	A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.	UMLS:C4721788	hp.json	Cleft ribs|Split ribs	http://purl.obolibrary.org/obo/HP_0000892							
HP:0000893	biolink:PhenotypicFeature	Bulging of the costochondral junction	Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.	UMLS:C1848538	hp.json		http://purl.obolibrary.org/obo/HP_0000893							
HP:0000894	biolink:PhenotypicFeature	Short clavicles	Reduced length of the clavicles.	SNOMEDCT_US:93250003|UMLS:C0426799	hp.json	Short collarbone|Clavicular hypoplasia|Hypoplastic clavicles|Underdeveloped clavicles	http://purl.obolibrary.org/obo/HP_0000894							hposlim_core
HP:0000895	biolink:PhenotypicFeature	Lateral clavicle hook	An excessive upward convexity of the lateral clavicle.	SNOMEDCT_US:249684000|UMLS:C0426805	hp.json	Hook-shaped collarbone|Handlebar clavicle|Hook-shaped clavicle|Hooked clavicle	http://purl.obolibrary.org/obo/HP_0000895							
HP:0000896	biolink:PhenotypicFeature	Rib exostoses	Multiple circumscribed bony excrescences located in the ribs.	UMLS:C1835579	hp.json		http://purl.obolibrary.org/obo/HP_0000896							
HP:0000897	biolink:PhenotypicFeature	Rachitic rosary	A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.	SNOMEDCT_US:15214001|SNOMEDCT_US:249702007	hp.json		http://purl.obolibrary.org/obo/HP_0000897							
HP:0000900	biolink:PhenotypicFeature	Thickened ribs	Increased thickness (diameter) of ribs.	SNOMEDCT_US:249699000|UMLS:C0426820	hp.json		http://purl.obolibrary.org/obo/HP_0000900							hposlim_core
HP:0000902	biolink:PhenotypicFeature	Rib fusion	Complete or partial merging of adjacent ribs.	UMLS:C1844749	hp.json	Fused ribs|Rib fusion	http://purl.obolibrary.org/obo/HP_0000902							
HP:0000904	biolink:PhenotypicFeature	Flaring of rib cage	The presence of wide, concave anterior rib ends.	UMLS:C1854780	hp.json	Flaring of rib cage|Anterior flaring of ribs	http://purl.obolibrary.org/obo/HP_0000904							
HP:0000905	biolink:PhenotypicFeature	Progressive clavicular acroosteolysis	Progressive bone resorption in the distal part of the clavicle.	UMLS:C1837757	hp.json	Progressive acroosteolysis of the clavicle	http://purl.obolibrary.org/obo/HP_0000905							
HP:0000907	biolink:PhenotypicFeature	Anterior rib cupping	Wide, concave anterior rib end.	UMLS:C1846154	hp.json	Anterior cupping of ribs|Anteriorly splayed ribs	http://purl.obolibrary.org/obo/HP_0000907							
HP:0000910	biolink:PhenotypicFeature	Wide-cupped costochondral junctions		UMLS:C1861213	hp.json		http://purl.obolibrary.org/obo/HP_0000910							
HP:0000911	biolink:PhenotypicFeature	Flat glenoid fossa	Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.	UMLS:C1855177	hp.json		http://purl.obolibrary.org/obo/HP_0000911							
HP:0000912	biolink:PhenotypicFeature	Sprengel anomaly	A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).	MEDDRA:10010455|MSH:C535802|SNOMEDCT_US:79120002|UMLS:C0152438	hp.json	High shoulder blade|Congenital, upward displacement of the scapula|High scapula|Sprengel deformity	http://purl.obolibrary.org/obo/HP_0000912							hposlim_core
HP:0000913	biolink:PhenotypicFeature	Posterior rib fusion	Complete or partial merging of the posterior part of adjacent ribs.	UMLS:C1842084	hp.json		http://purl.obolibrary.org/obo/HP_0000913							
HP:0000914	biolink:PhenotypicFeature	Shield chest	A broad chest.	UMLS:C1834124|UMLS:C1839248	hp.json	Shield chest|Broad chest	http://purl.obolibrary.org/obo/HP_0000914							
HP:0000915	biolink:PhenotypicFeature	Pectus excavatum of inferior sternum	Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.	UMLS:C1864796	hp.json	Pectus excavatum inferiorly	http://purl.obolibrary.org/obo/HP_0000915							
HP:0000916	biolink:PhenotypicFeature	Broad clavicles	Increased width (cross-sectional diameter) of the clavicles.	SNOMEDCT_US:249680009|UMLS:C0426801	hp.json	Broad collarbone	http://purl.obolibrary.org/obo/HP_0000916							hposlim_core
HP:0000917	biolink:PhenotypicFeature	Superior pectus carinatum	Pectus carinatum affecting primarily the superior part of the sternum.	UMLS:C1864795	hp.json	Pectus carinatum superiorly	http://purl.obolibrary.org/obo/HP_0000917							
HP:0000918	biolink:PhenotypicFeature	Scapular exostoses	The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.	UMLS:C1851415	hp.json	Scapulae exostoses|Shoulder bone exostoes	http://purl.obolibrary.org/obo/HP_0000918							
HP:0000919	biolink:PhenotypicFeature	Abnormality of the costochondral junction	Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.	UMLS:C4021791	hp.json	Costochondral juctions abnormal	http://purl.obolibrary.org/obo/HP_0000919							
HP:0000920	biolink:PhenotypicFeature	Enlargement of the costochondral junction	Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.	UMLS:C1857180	hp.json	Costochondral thickening|Enlarged costochondral junctions|Prominent costochondral junction|Wide costochondral junctions|Widened costochondral junction	http://purl.obolibrary.org/obo/HP_0000920							hposlim_core
HP:0000921	biolink:PhenotypicFeature	Missing ribs	A developmental anomaly with absence of one or more ribs.	SNOMEDCT_US:249695006|UMLS:C0426816	hp.json	Absent ribs|Decreased rib number|Missing ribs	http://purl.obolibrary.org/obo/HP_0000921							hposlim_core
HP:0000922	biolink:PhenotypicFeature	Posterior rib cupping	Wide, concave posterior rib end.	UMLS:C1837483	hp.json	Anterior and posterior rib cupping	http://purl.obolibrary.org/obo/HP_0000922							
HP:0000923	biolink:PhenotypicFeature	Beaded ribs	The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.	UMLS:C0426824	hp.json		http://purl.obolibrary.org/obo/HP_0000923							
HP:0000924	biolink:PhenotypicFeature	Abnormality of the skeletal system	An abnormality of the skeletal system.	UMLS:C4021790	hp.json	Abnormality of the skeletal system|Skeletal abnormalities|Skeletal anomalies	http://purl.obolibrary.org/obo/HP_0000924							
HP:0000925	biolink:PhenotypicFeature	Abnormality of the vertebral column	Any abnormality of the vertebral column.	UMLS:C4020882|UMLS:C4021789	hp.json	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							hposlim_core
HP:0000926	biolink:PhenotypicFeature	Platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates.	UMLS:C1844704	hp.json	Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies	http://purl.obolibrary.org/obo/HP_0000926							hposlim_core
HP:0000927	biolink:PhenotypicFeature	Abnormality of skeletal maturation	The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.	UMLS:C4025818	hp.json	Abnormality of skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927							
HP:0000929	biolink:PhenotypicFeature	Abnormal skull morphology	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.	UMLS:C0235942	hp.json	Abnormality of the skull|Abnormality of the skull bones	http://purl.obolibrary.org/obo/HP_0000929							
HP:0000930	biolink:PhenotypicFeature	Elevated imprint of the transverse sinuses		UMLS:C4025817	hp.json	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	biolink:PhenotypicFeature	Thinning and bulging of the posterior fossa bones		UMLS:C4021788|UMLS:C4280608	hp.json	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	biolink:PhenotypicFeature	Abnormal posterior cranial fossa morphology	An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.	UMLS:C3280768	hp.json	Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa|Posterior fossa anomaly	http://purl.obolibrary.org/obo/HP_0000932							
HP:0000933	biolink:PhenotypicFeature	Posterior fossa cyst at the fourth ventricle		UMLS:C4025816	hp.json		http://purl.obolibrary.org/obo/HP_0000933							
HP:0000934	biolink:PhenotypicFeature	Chondrocalcinosis	Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .	MSH:D002805|SNOMEDCT_US:201637001|SNOMEDCT_US:239832006|SNOMEDCT_US:239838005|UMLS:C0553730	hp.json	Calcium deposits in joints	http://purl.obolibrary.org/obo/HP_0000934							
HP:0000935	biolink:PhenotypicFeature	Thickened cortex of long bones	Abnormal thickening of the cortex of long bones.	UMLS:C1840418	hp.json	Broad cortex of long bones|Cortical thickening of the long bones|Thickened cortices of long bones	http://purl.obolibrary.org/obo/HP_0000935							
HP:0000938	biolink:PhenotypicFeature	Osteopenia	Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.	MSH:D001851|SNOMEDCT_US:312894000|SNOMEDCT_US:78441005|UMLS:C0029453|UMLS:C0747078	hp.json	Generalised osteopenia|Generalized osteopenia	http://purl.obolibrary.org/obo/HP_0000938							
HP:0000939	biolink:PhenotypicFeature	Osteoporosis	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456	hp.json		http://purl.obolibrary.org/obo/HP_0000939							
HP:0000940	biolink:PhenotypicFeature	Abnormal diaphysis morphology	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.	UMLS:C4021787	hp.json	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							
HP:0000941	biolink:PhenotypicFeature	Short diaphyses		UMLS:C4025815	hp.json	Short shaft of long bone	http://purl.obolibrary.org/obo/HP_0000941							
HP:0000943	biolink:PhenotypicFeature	Dysostosis multiplex		MSH:D008059|SNOMEDCT_US:254069004|SNOMEDCT_US:65327002|UMLS:C0086795	hp.json		http://purl.obolibrary.org/obo/HP_0000943							
HP:0000944	biolink:PhenotypicFeature	Abnormality of the metaphysis	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.	UMLS:C4025814	hp.json	Abnormality of the wide portion of a long bone	http://purl.obolibrary.org/obo/HP_0000944							
HP:0000946	biolink:PhenotypicFeature	Hypoplastic ilia	Underdevelopment of the ilium.	UMLS:C1861218|UMLS:C4280607	hp.json	Small wings of the pelvic girdle|Short and small iliac bones|Small iliac bones	http://purl.obolibrary.org/obo/HP_0000946							
HP:0000947	biolink:PhenotypicFeature	Dumbbell-shaped long bone	An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.	UMLS:C2749582	hp.json	Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses	http://purl.obolibrary.org/obo/HP_0000947							
HP:0000951	biolink:PhenotypicFeature	Abnormality of the skin	An abnormality of the skin.	MSH:D012868|MSH:D012871|SNOMEDCT_US:199879009|SNOMEDCT_US:95320005|UMLS:C0037268|UMLS:C0037274	hp.json	Abnormality of the skin|dermatopathy|dermopathy|Skin abnormality	http://purl.obolibrary.org/obo/HP_0000951							hposlim_core
HP:0000952	biolink:PhenotypicFeature	Jaundice	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.	MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346	hp.json	Jaundice|Yellow skin|Yellowing of the skin|Icterus	http://purl.obolibrary.org/obo/HP_0000952							
HP:0000953	biolink:PhenotypicFeature	Hyperpigmentation of the skin	A darkening of the skin related to an increase in melanin production and deposition.	MSH:D017495|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009|UMLS:C0162834	hp.json	Patchy darkened skin|Cutaneous hyperpigmentation|Hyperpigmented lesion|Increased skin pigmentation|Skin hyperpigmentation|Melanoderma|Melanodermia	http://purl.obolibrary.org/obo/HP_0000953							
HP:0000954	biolink:PhenotypicFeature	Single transverse palmar crease	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.	SNOMEDCT_US:248409006|UMLS:C0424731	hp.json	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							hposlim_core
HP:0000956	biolink:PhenotypicFeature	Acanthosis nigricans	A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.	MSH:D000052|SNOMEDCT_US:402599005|SNOMEDCT_US:72129000|UMLS:C0000889	hp.json	Darkened and thickened skin|Keratosis nigricans	http://purl.obolibrary.org/obo/HP_0000956							secondary_consequence
HP:0000957	biolink:PhenotypicFeature	Cafe-au-lait spot	Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.	MSH:D019080|SNOMEDCT_US:201281002|SNOMEDCT_US:51089004|UMLS:C0221263|UMLS:C0265974	hp.json	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							
HP:0000958	biolink:PhenotypicFeature	Dry skin	Skin characterized by the lack of natural or normal moisture.	MEDDRA:10048222|SNOMEDCT_US:16386004|UMLS:C0151908|UMLS:C0259817	hp.json	Dry skin|Xerosis	http://purl.obolibrary.org/obo/HP_0000958							hposlim_core
HP:0000960	biolink:PhenotypicFeature	Sacral dimple	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.	SNOMEDCT_US:249729002|SNOMEDCT_US:311897005|UMLS:C0426848	hp.json	Spinal dimple|Pilonidal dimple	http://purl.obolibrary.org/obo/HP_0000960							hposlim_core
HP:0000961	biolink:PhenotypicFeature	Cyanosis	Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.	MSH:D003490|SNOMEDCT_US:119419001|SNOMEDCT_US:3415004|UMLS:C0010520	hp.json	Blue discoloration of the skin	http://purl.obolibrary.org/obo/HP_0000961							
HP:0000962	biolink:PhenotypicFeature	Hyperkeratosis	Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.	MEDDRA:10020649|SNOMEDCT_US:26996000|SNOMEDCT_US:396228006|SNOMEDCT_US:399955009|UMLS:C0870082	hp.json		http://purl.obolibrary.org/obo/HP_0000962							hposlim_core
HP:0000963	biolink:PhenotypicFeature	Thin skin	Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.	SNOMEDCT_US:277797007|UMLS:C0423757	hp.json	Thin skin	http://purl.obolibrary.org/obo/HP_0000963							hposlim_core
HP:0000964	biolink:PhenotypicFeature	Eczema	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.	MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|UMLS:C0013595	hp.json	Eczema	http://purl.obolibrary.org/obo/HP_0000964							
HP:0000965	biolink:PhenotypicFeature	Cutis marmorata	A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.	UMLS:C0263401	hp.json		http://purl.obolibrary.org/obo/HP_0000965							hposlim_core
HP:0000966	biolink:PhenotypicFeature	Hypohidrosis	Abnormally diminished capacity to sweat.	MEDDRA:10021013|MSH:D007007|SNOMEDCT_US:45004005|UMLS:C0020620	hp.json	Decreased ability to sweat|Decreased sweating|Sweating, decreased|Inadequate sweating|Oligohidrosis	http://purl.obolibrary.org/obo/HP_0000966							hposlim_core
HP:0000967	biolink:PhenotypicFeature	Petechiae	Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.	MEDDRA:10034754|MSH:D011693|SNOMEDCT_US:271813007|SNOMEDCT_US:50091001|UMLS:C0031256	hp.json		http://purl.obolibrary.org/obo/HP_0000967							hposlim_core
HP:0000968	biolink:PhenotypicFeature	Ectodermal dysplasia	Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.	MSH:D004476|SNOMEDCT_US:254154003|SNOMEDCT_US:8654005|UMLS:C0013575	hp.json		http://purl.obolibrary.org/obo/HP_0000968							
HP:0000969	biolink:PhenotypicFeature	Edema	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:267038008|SNOMEDCT_US:423666004|SNOMEDCT_US:79654002|UMLS:C0013604	hp.json	Fluid retention|Water retention|Dropsy|Hydrops|Oedema	http://purl.obolibrary.org/obo/HP_0000969							
HP:0000970	biolink:PhenotypicFeature	Anhidrosis	Inability to sweat.	MEDDRA:10002512|MSH:D007007|SNOMEDCT_US:14662005|SNOMEDCT_US:39659002|UMLS:C0003028	hp.json	Lack of sweating|Sweating dysfunction|Anhydrosis|Sudomotor dysfunction	http://purl.obolibrary.org/obo/HP_0000970							hposlim_core
HP:0000971	biolink:PhenotypicFeature	Abnormal sweat gland morphology	Any structural abnormality of the sweat gland.	MSH:D013543|SNOMEDCT_US:88232005|UMLS:C0038986|UMLS:C0262643|UMLS:C4020881	hp.json	Abnormality of the sweat gland|Abnormalities of sweating|Sweat gland disease	http://purl.obolibrary.org/obo/HP_0000971							
HP:0000972	biolink:PhenotypicFeature	Palmoplantar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.	MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596	hp.json	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							hposlim_core
HP:0000973	biolink:PhenotypicFeature	Cutis laxa	Wrinkled, redundant, inelastic and sagging skin.	MSH:C531660|MSH:D003483|SNOMEDCT_US:58588007|UMLS:C0010495|UMLS:C2930812|UMLS:C4280606	hp.json	Hanging skin|Loose and inelastic skin|Generalised elastolysis|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							
HP:0000974	biolink:PhenotypicFeature	Hyperextensible skin	A condition in which the skin can be stretched beyond normal, and then returns to its initial position.	UMLS:C0241074	hp.json	Hyperelastic skin|Skin hyperelasticity|Stretchable skin|Skin hyperextensibility	http://purl.obolibrary.org/obo/HP_0000974							hposlim_core
HP:0000975	biolink:PhenotypicFeature	Hyperhidrosis	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.	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	hp.json	Excessive sweating|Increased sweating|Profuse sweating|Sweating|Sweating profusely|Sweating, increased|Diaphoresis	http://purl.obolibrary.org/obo/HP_0000975							hposlim_core
HP:0000976	biolink:PhenotypicFeature	Eczematoid dermatitis		MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|UMLS:C0013595	hp.json		http://purl.obolibrary.org/obo/HP_0000976							
HP:0000977	biolink:PhenotypicFeature	Soft skin	Subjective impression of increased softness upon palpitation of the skin.	UMLS:C0241178|UMLS:C1844592	hp.json	Soft skin|Velvety skin|Velvety skin texture	http://purl.obolibrary.org/obo/HP_0000977							hposlim_core
HP:0000978	biolink:PhenotypicFeature	Bruising susceptibility	An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.	MSH:D004438|SNOMEDCT_US:302227002|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|SNOMEDCT_US:77643000|UMLS:C0013491|UMLS:C0423798	hp.json	Bruise easily|Bruising susceptibility|Easy bruisability|Easy bruising|Bruisability	http://purl.obolibrary.org/obo/HP_0000978							
HP:0000979	biolink:PhenotypicFeature	Purpura	Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.	MSH:D011693|SNOMEDCT_US:12393003|SNOMEDCT_US:387778001|SNOMEDCT_US:423902002|UMLS:C0034150	hp.json	Blood spots|Red or purple spots on the skin	http://purl.obolibrary.org/obo/HP_0000979							hposlim_core
HP:0000980	biolink:PhenotypicFeature	Pallor	Abnormally pale skin.	MSH:D010167|SNOMEDCT_US:398979000|UMLS:C0030232	hp.json	Paleness|Skin paleness	http://purl.obolibrary.org/obo/HP_0000980							
HP:0000982	biolink:PhenotypicFeature	Palmoplantar keratoderma	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.	MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596	hp.json	Thickening of palms and soles|Palmar and plantar keratoderma	http://purl.obolibrary.org/obo/HP_0000982							
HP:0000987	biolink:PhenotypicFeature	Atypical scarring of skin	Atypically scarred skin .	UMLS:C4021786	hp.json	Atypical scarring|Atypical scarring of skin	http://purl.obolibrary.org/obo/HP_0000987							
HP:0000988	biolink:PhenotypicFeature	Skin rash	A red eruption of the skin.	MEDDRA:10037844|MSH:D005076|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003|UMLS:C0015230	hp.json	Rash|Skin rash	http://purl.obolibrary.org/obo/HP_0000988							
HP:0000989	biolink:PhenotypicFeature	Pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.	MSH:D011537|SNOMEDCT_US:279333002|SNOMEDCT_US:418290006|SNOMEDCT_US:418363000|SNOMEDCT_US:424492005|UMLS:C0033774	hp.json	Itching|Itchy skin|Skin itching|pruritis	http://purl.obolibrary.org/obo/HP_0000989							hposlim_core
HP:0000991	biolink:PhenotypicFeature	Xanthomatosis	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.	MSH:D014973|SNOMEDCT_US:63103006|UMLS:C0043325	hp.json	Yellow bumps of fatty deposits on skin|Xanthomata	http://purl.obolibrary.org/obo/HP_0000991							
HP:0000992	biolink:PhenotypicFeature	Cutaneous photosensitivity	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.	MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506	hp.json	Photosensitive skin|Photosensitive skin rashes|Photosensitivity|Sensitivity to sunlight|Skin photosensitivity|Sun sensitivity	http://purl.obolibrary.org/obo/HP_0000992							hposlim_core
HP:0000993	biolink:PhenotypicFeature	Molluscoid pseudotumors	Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.	UMLS:C1844597	hp.json	Molluscoid pseudotumor	http://purl.obolibrary.org/obo/HP_0000993							
HP:0000995	biolink:PhenotypicFeature	Melanocytic nevus	A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.	MSH:D009508|SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|UMLS:C0027962|UMLS:C4280269	hp.json	Noncancerous mole|Beauty mark|Melanocytic naevus|Melanocytic nevi|Nevocellular nevi|Pigmented naevi|Pigmented nevi	http://purl.obolibrary.org/obo/HP_0000995							
HP:0000996	biolink:PhenotypicFeature	Facial capillary hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.	UMLS:C1858545	hp.json		http://purl.obolibrary.org/obo/HP_0000996							
HP:0000997	biolink:PhenotypicFeature	Axillary freckling	The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	UMLS:C1860335	hp.json		http://purl.obolibrary.org/obo/HP_0000997							hposlim_core
HP:0000998	biolink:PhenotypicFeature	Hypertrichosis	Hypertrichosis is increased hair growth that is abnormal in quantity or location.	MSH:D006983|SNOMEDCT_US:271607001|SNOMEDCT_US:29966009|UMLS:C0020555	hp.json	Excessive hair growth|Increased hair growth on body	http://purl.obolibrary.org/obo/HP_0000998							
HP:0000999	biolink:PhenotypicFeature	Pyoderma	Any manifestation of a skin disease associated with the production of pus.	MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212	hp.json	Pus-filled lesion	http://purl.obolibrary.org/obo/HP_0000999							
HP:0001000	biolink:PhenotypicFeature	Abnormality of skin pigmentation	An abnormality of the pigmentation of the skin.	UMLS:C1260926	hp.json	Abnormal pigmentation|Abnormal skin color|Abnormal skin pigmentation|Abnormality of pigmentation|Abnormality of skin pigmentation|Pigmentary changes|Pigmentary skin changes|Pigmentation anomaly|Abnormal skin colour	http://purl.obolibrary.org/obo/HP_0001000							hposlim_core
HP:0001001	biolink:PhenotypicFeature	Abnormality of subcutaneous fat tissue		UMLS:C4025813	hp.json	Abnormality of fatty tissue below the skin	http://purl.obolibrary.org/obo/HP_0001001							
HP:0001002	biolink:PhenotypicFeature	obsolete Decreased subcutaneous fat			hp.json		http://purl.obolibrary.org/obo/HP_0001002							
HP:0001003	biolink:PhenotypicFeature	Multiple lentigines	Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.	SNOMEDCT_US:72100002|UMLS:C0036651|UMLS:C1328931	hp.json	Liver spots	http://purl.obolibrary.org/obo/HP_0001003							hposlim_core
HP:0001004	biolink:PhenotypicFeature	Lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.	MSH:D008209|SNOMEDCT_US:234097001|SNOMEDCT_US:30213001|UMLS:C0024236|UMLS:C0240278|UMLS:C1835229	hp.json	Swelling caused by excess lymph fluid under skin|Lymphatic obstruction|Lymphoedema|Onset of lymphedema around puberty	http://purl.obolibrary.org/obo/HP_0001004							
HP:0001005	biolink:PhenotypicFeature	Dermatological manifestations of systemic disorders		UMLS:C4025812	hp.json		http://purl.obolibrary.org/obo/HP_0001005							secondary_consequence
HP:0001006	biolink:PhenotypicFeature	obsolete Hypotrichosis			hp.json		http://purl.obolibrary.org/obo/HP_0001006							
HP:0001007	biolink:PhenotypicFeature	Hirsutism	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).	MSH:D006628|SNOMEDCT_US:399939002|UMLS:C0019572	hp.json	Excessive hairiness	http://purl.obolibrary.org/obo/HP_0001007							
HP:0001008	biolink:PhenotypicFeature	Accumulation of melanosomes in melanocytes		UMLS:C1843389	hp.json		http://purl.obolibrary.org/obo/HP_0001008							
HP:0001009	biolink:PhenotypicFeature	Telangiectasia	Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.	MSH:D013684|SNOMEDCT_US:112641009|SNOMEDCT_US:247479008|UMLS:C0039446|UMLS:C1138421	hp.json	Spider veins|Cutaneous telangiectasia|Telangiectases	http://purl.obolibrary.org/obo/HP_0001009							
HP:0001010	biolink:PhenotypicFeature	Hypopigmentation of the skin	A reduction of skin color related to a decrease in melanin production and deposition.	MSH:D017496|SNOMEDCT_US:18655006|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000|SNOMEDCT_US:89031001|UMLS:C0162835	hp.json	Patchy lightened skin|Hypopigmentation|Hypopigmented skin|Skin hypopigmentation	http://purl.obolibrary.org/obo/HP_0001010							
HP:0001011	biolink:PhenotypicFeature	obsolete Diaphoresis (with pheochromocytoma)			hp.json		http://purl.obolibrary.org/obo/HP_0001011							
HP:0001012	biolink:PhenotypicFeature	Multiple lipomas	The presence of multiple lipomas (a type of benign tissue made of fatty tissue).	MSH:D008067|NCIT:C3192|SNOMEDCT_US:404062002|SNOMEDCT_US:46720004|SNOMEDCT_US:93163002|UMLS:C0023798|UMLS:C0745730	hp.json	Multiple fatty lumps|Lipomas|Lipomatosis	http://purl.obolibrary.org/obo/HP_0001012							
HP:0001013	biolink:PhenotypicFeature	Eruptive xanthomas	Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.	SNOMEDCT_US:238952003|UMLS:C0221252	hp.json		http://purl.obolibrary.org/obo/HP_0001013							
HP:0001014	biolink:PhenotypicFeature	Angiokeratoma	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.	MSH:D000794|SNOMEDCT_US:26810009|UMLS:C0002985	hp.json	Angiokeratomas	http://purl.obolibrary.org/obo/HP_0001014							
HP:0001015	biolink:PhenotypicFeature	Prominent superficial veins	A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.	UMLS:C1837785	hp.json	Prominent veins	http://purl.obolibrary.org/obo/HP_0001015							
HP:0001017	biolink:PhenotypicFeature	Anemic pallor	A type of pallor that is secondary to the presence of anemia.	UMLS:C4025811	hp.json	Anaemic pallor	http://purl.obolibrary.org/obo/HP_0001017							
HP:0001018	biolink:PhenotypicFeature	Abnormal palmar dermatoglyphics	An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.	UMLS:C4025810	hp.json		http://purl.obolibrary.org/obo/HP_0001018							
HP:0001019	biolink:PhenotypicFeature	Erythroderma	An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.	MSH:D003873|SNOMEDCT_US:200948000|SNOMEDCT_US:396349005|SNOMEDCT_US:396350005|SNOMEDCT_US:399992009|SNOMEDCT_US:400005007|UMLS:C0011606	hp.json	Red scaly skin caused by inflammatory skin disease|Generalised erythroderma|Generalised erythrodermia|Exfoliative dermititis|Generalized erythroderma|Generalized erythrodermia	http://purl.obolibrary.org/obo/HP_0001019							
HP:0001022	biolink:PhenotypicFeature	Albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).	MSH:D000417|SNOMEDCT_US:15890002|SNOMEDCT_US:18064000|UMLS:C0001916|UMLS:C0333913	hp.json	Albinism|Achromasia	http://purl.obolibrary.org/obo/HP_0001022							
HP:0001024	biolink:PhenotypicFeature	Skin dimple over apex of long bone angulation		UMLS:C1855815	hp.json		http://purl.obolibrary.org/obo/HP_0001024							
HP:0001025	biolink:PhenotypicFeature	Urticaria	Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.	MEDDRA:10046735|MSH:D014581|SNOMEDCT_US:126485001|SNOMEDCT_US:247472004|SNOMEDCT_US:64305001|UMLS:C0042109	hp.json	Hives	http://purl.obolibrary.org/obo/HP_0001025							hposlim_core
HP:0001026	biolink:PhenotypicFeature	Penetrating foot ulcers		UMLS:C4025809	hp.json	Penetrating foot ulcers	http://purl.obolibrary.org/obo/HP_0001026							
HP:0001027	biolink:PhenotypicFeature	Soft, doughy skin	A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.	UMLS:C1849043	hp.json	Soft, doughy skin	http://purl.obolibrary.org/obo/HP_0001027							
HP:0001028	biolink:PhenotypicFeature	Hemangioma	A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).	MSH:D006391|NCIT:C3085|SNOMEDCT_US:2099007|SNOMEDCT_US:253053003|SNOMEDCT_US:400210000|UMLS:C0018916	hp.json	Strawberry mark|Hemangiomata	http://purl.obolibrary.org/obo/HP_0001028							
HP:0001029	biolink:PhenotypicFeature	Poikiloderma	Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.	MEDDRA:10057041|SNOMEDCT_US:402685001|SNOMEDCT_US:70114006|UMLS:C0392777	hp.json		http://purl.obolibrary.org/obo/HP_0001029							hposlim_core
HP:0001030	biolink:PhenotypicFeature	Fragile skin	Skin that splits easily with minimal injury.	MEDDRA:10040851|SNOMEDCT_US:247427007|UMLS:C0241181	hp.json	Fragile skin|Skin fragility	http://purl.obolibrary.org/obo/HP_0001030							hposlim_core
HP:0001031	biolink:PhenotypicFeature	Subcutaneous lipoma	The presence of subcutaneous lipoma.	NCIT:C3192|UMLS:C1403035	hp.json		http://purl.obolibrary.org/obo/HP_0001031							
HP:0001032	biolink:PhenotypicFeature	Absent distal interphalangeal creases	Absence of the distal interphalangeal flexion creases of the fingers.	UMLS:C1861349	hp.json	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							
HP:0001033	biolink:PhenotypicFeature	Facial flushing after alcohol intake		UMLS:C4025808	hp.json	Facial flushing after alcohol intake	http://purl.obolibrary.org/obo/HP_0001033							secondary_consequence
HP:0001034	biolink:PhenotypicFeature	Hypermelanotic macule	A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.	UMLS:C1842774	hp.json	Hyperpigmented spots|Hyperpigmented skin patches|Hyperpigmented macules	http://purl.obolibrary.org/obo/HP_0001034							
HP:0001036	biolink:PhenotypicFeature	Parakeratosis	Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.	MSH:D010241|SNOMEDCT_US:200766001|SNOMEDCT_US:65068000|UMLS:C0030436	hp.json		http://purl.obolibrary.org/obo/HP_0001036							
HP:0001038	biolink:PhenotypicFeature	Warfarin-induced skin necrosis		UMLS:C1867638	hp.json		http://purl.obolibrary.org/obo/HP_0001038							secondary_consequence
HP:0001039	biolink:PhenotypicFeature	Atheroeruptive xanthoma		UMLS:C4025807	hp.json		http://purl.obolibrary.org/obo/HP_0001039							
HP:0001040	biolink:PhenotypicFeature	Multiple pterygia		UMLS:C1867448	hp.json		http://purl.obolibrary.org/obo/HP_0001040							
HP:0001041	biolink:PhenotypicFeature	Facial erythema	Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.	MSH:D001821|MSH:D012393|SNOMEDCT_US:20255002|SNOMEDCT_US:271811009|SNOMEDCT_US:398909004|UMLS:C0005874|UMLS:C0035854|UMLS:C0239488|UMLS:C4020880	hp.json	Blushed cheeks|Blushing|Red face|Red in the face|Rosacea|Ruddy face	http://purl.obolibrary.org/obo/HP_0001041							
HP:0001042	biolink:PhenotypicFeature	High axial triradius		UMLS:C4025806	hp.json		http://purl.obolibrary.org/obo/HP_0001042							
HP:0001043	biolink:PhenotypicFeature	Prominent scalp veins		UMLS:C1856542	hp.json	Prominent scalp veins	http://purl.obolibrary.org/obo/HP_0001043							
HP:0001045	biolink:PhenotypicFeature	Vitiligo		MSH:D014820|SNOMEDCT_US:56727007|UMLS:C0042900	hp.json	Blotchy loss of skin color|Blotchy loss of skin colour	http://purl.obolibrary.org/obo/HP_0001045							
HP:0001046	biolink:PhenotypicFeature	Intermittent jaundice	Jaundice that is sometimes present, sometimes not.	UMLS:C4025805	hp.json	Intermittent yellow skin|Intermittent yellowing of skin|Intermittent icterus	http://purl.obolibrary.org/obo/HP_0001046							secondary_consequence
HP:0001047	biolink:PhenotypicFeature	Atopic dermatitis	Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.	MSH:D003876|SNOMEDCT_US:200775004|SNOMEDCT_US:24079001|UMLS:C0011615|UMLS:C4280605	hp.json	Baby eczema|Atopic dermatitis, chronic|Dermatitis, Atopic	http://purl.obolibrary.org/obo/HP_0001047							
HP:0001048	biolink:PhenotypicFeature	Cavernous hemangioma	The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.	MEDDRA:10055899|MSH:D006392|NCIT:C3086|SNOMEDCT_US:33377007|SNOMEDCT_US:416824008|SNOMEDCT_US:56975005|UMLS:C0018920	hp.json	Collection of dilated blood vessels that forms mass|Cavernous angioma|Cavernous haemangioma	http://purl.obolibrary.org/obo/HP_0001048							hposlim_core
HP:0001049	biolink:PhenotypicFeature	Absent dorsal skin creases over affected joints		UMLS:C1861400	hp.json		http://purl.obolibrary.org/obo/HP_0001049							
HP:0001050	biolink:PhenotypicFeature	Plethora		SNOMEDCT_US:75246004|UMLS:C0232370	hp.json		http://purl.obolibrary.org/obo/HP_0001050							
HP:0001051	biolink:PhenotypicFeature	Seborrheic dermatitis	Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.	MSH:D012628|SNOMEDCT_US:50563003|SNOMEDCT_US:86708008|UMLS:C0036508|UMLS:C3806554	hp.json	Seborrhea|Seborrheic eczema|Dysseborrheic dermatitis	http://purl.obolibrary.org/obo/HP_0001051							
HP:0001052	biolink:PhenotypicFeature	Nevus flammeus	A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.	MEDDRA:10067193|MSH:D019339|SNOMEDCT_US:254211001|SNOMEDCT_US:416377005|UMLS:C0235752	hp.json	port-wine stain|Nevus simplex	http://purl.obolibrary.org/obo/HP_0001052							hposlim_core
HP:0001053	biolink:PhenotypicFeature	Hypopigmented skin patches		UMLS:C1836735	hp.json	Patchy loss of skin color|Patchy loss of skin colour	http://purl.obolibrary.org/obo/HP_0001053							
HP:0001054	biolink:PhenotypicFeature	Numerous nevi		UMLS:C1849677	hp.json	Numerous moles|Multiple pigmented nevi	http://purl.obolibrary.org/obo/HP_0001054							
HP:0001055	biolink:PhenotypicFeature	Erysipelas	Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.	MEDDRA:10015145|MSH:D004881|MSH:D004886|SNOMEDCT_US:44653001|SNOMEDCT_US:51510002|UMLS:C0014714|UMLS:C0014733	hp.json	St. Anthony's Fire	http://purl.obolibrary.org/obo/HP_0001055							hposlim_core
HP:0001056	biolink:PhenotypicFeature	Milia	Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.	SNOMEDCT_US:254679001|SNOMEDCT_US:254683001|SNOMEDCT_US:37719003|UMLS:C0345996	hp.json	Milk spot|Millium cyst	http://purl.obolibrary.org/obo/HP_0001056							hposlim_core
HP:0001057	biolink:PhenotypicFeature	Aplasia cutis congenita	A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.	MEDDRA:10002963|MSH:D004476|SNOMEDCT_US:254237003|SNOMEDCT_US:35484002|SNOMEDCT_US:74223008|UMLS:C0265989|UMLS:C0282160	hp.json	Absence of part of skin at birth|Congenital scars|Congenital absence of skin|Cutis aplasia	http://purl.obolibrary.org/obo/HP_0001057							hposlim_core
HP:0001058	biolink:PhenotypicFeature	Poor wound healing	A reduced ability to heal cutaneous wounds.	UMLS:C1851789	hp.json	Poor wound healing	http://purl.obolibrary.org/obo/HP_0001058							hposlim_core
HP:0001059	biolink:PhenotypicFeature	Pterygium	Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.	MSH:D011625|SNOMEDCT_US:77489003|UMLS:C0033999	hp.json	Surfer's eye|Pterygia	http://purl.obolibrary.org/obo/HP_0001059							
HP:0001060	biolink:PhenotypicFeature	Axillary pterygium	Presence of a cutaneous membrane (flap) in the armpit.	UMLS:C1844738	hp.json	Axillary pterygia	http://purl.obolibrary.org/obo/HP_0001060							
HP:0001061	biolink:PhenotypicFeature	Acne	A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).	MEDDRA:10000496|SNOMEDCT_US:11381005|UMLS:C0702166	hp.json	Breaking out|Acne	http://purl.obolibrary.org/obo/HP_0001061							hposlim_core
HP:0001062	biolink:PhenotypicFeature	Atypical nevus	A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.	MSH:D004416|SNOMEDCT_US:254818000|SNOMEDCT_US:61814002|UMLS:C0205748	hp.json	Atypical mole|Dysplastic Nevus	http://purl.obolibrary.org/obo/HP_0001062							
HP:0001063	biolink:PhenotypicFeature	Acrocyanosis		SNOMEDCT_US:25003006|UMLS:C0221347	hp.json	Persistent blue color of hands, feet, or parts of face|Persistent blue colour of hands, feet, or parts of face	http://purl.obolibrary.org/obo/HP_0001063							
HP:0001065	biolink:PhenotypicFeature	Striae distensae	Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.	MEDDRA:10040925|MSH:D057896|SNOMEDCT_US:201066002|SNOMEDCT_US:201067006|SNOMEDCT_US:47212006|UMLS:C0152459	hp.json	Stretch marks|Purplish striae|Striae|Striae atrophicae|Striae cutis distensae	http://purl.obolibrary.org/obo/HP_0001065							hposlim_core
HP:0001067	biolink:PhenotypicFeature	Neurofibromas	The presence of multiple cutaneous neurofibromas.	MSH:D017253|NCIT:C3272|SNOMEDCT_US:19133005|SNOMEDCT_US:81669005|UMLS:C0162678	hp.json	Neurofibromata|Neurofibromatosis|multiple neurofibromas	http://purl.obolibrary.org/obo/HP_0001067							
HP:0001069	biolink:PhenotypicFeature	Episodic hyperhidrosis	Intermittent episodes of abnormally increased perspiration.	UMLS:C1857171	hp.json	Sporadic excessive sweating|Hyperhidrosis, episodic	http://purl.obolibrary.org/obo/HP_0001069							
HP:0001070	biolink:PhenotypicFeature	Mottled pigmentation	Patchy and irregular skin pigmentation.	UMLS:C0860439|UMLS:C4020879	hp.json	Mottled skin coloring|Mottled skin colouring|Stippled pigmentation	http://purl.obolibrary.org/obo/HP_0001070							
HP:0001071	biolink:PhenotypicFeature	Angiokeratoma corporis diffusum		MSH:D000795|SNOMEDCT_US:124464003|SNOMEDCT_US:16652001|UMLS:C0002986	hp.json	Fabry syndrome	http://purl.obolibrary.org/obo/HP_0001071							
HP:0001072	biolink:PhenotypicFeature	Thickened skin	Laminar thickening of skin.	MEDDRA:10040936|SNOMEDCT_US:17417006|SNOMEDCT_US:69943009|UMLS:C0334008|UMLS:C4020878	hp.json	Thick skin|Thickened skin|Diffusely thickened skin|Pachydermia	http://purl.obolibrary.org/obo/HP_0001072							hposlim_core
HP:0001073	biolink:PhenotypicFeature	Cigarette-paper scars	Thin (atrophic) and wide scars.	UMLS:C1851828	hp.json	'cigarette paper scarring'|Cigarette paper scarring|Cigarette-paper scars	http://purl.obolibrary.org/obo/HP_0001073							hposlim_core
HP:0001074	biolink:PhenotypicFeature	Atypical nevi in non-sun exposed areas		UMLS:C4021837	hp.json		http://purl.obolibrary.org/obo/HP_0001074							
HP:0001075	biolink:PhenotypicFeature	Atrophic scars	Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.	SNOMEDCT_US:239172000|SNOMEDCT_US:409766009|UMLS:C0162154	hp.json	Sunken or indented skin due to damage|Thin, atrophic scars	http://purl.obolibrary.org/obo/HP_0001075							hposlim_core
HP:0001076	biolink:PhenotypicFeature	Glabellar hemangioma		UMLS:C1854408	hp.json	Glabellar capillary hemangioma	http://purl.obolibrary.org/obo/HP_0001076							
HP:0001080	biolink:PhenotypicFeature	Biliary tract abnormality	An abnormality of the biliary tree.	MSH:D001660|SNOMEDCT_US:105997008|UMLS:C0005424|UMLS:C0549613	hp.json	Biliary tract disease	http://purl.obolibrary.org/obo/HP_0001080							
HP:0001081	biolink:PhenotypicFeature	Cholelithiasis	Hard, pebble-like deposits that form within the gallbladder.	MSH:D002769|SNOMEDCT_US:266474003|UMLS:C0008350	hp.json	Gallstones	http://purl.obolibrary.org/obo/HP_0001081							
HP:0001082	biolink:PhenotypicFeature	Cholecystitis	The presence of inflammatory changes in the gallbladder.	MSH:D002764|SNOMEDCT_US:76581006|UMLS:C0008325	hp.json	Gallbladder inflammation	http://purl.obolibrary.org/obo/HP_0001082							
HP:0001083	biolink:PhenotypicFeature	Ectopia lentis	Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.	MSH:D004479|MSH:D007906|SNOMEDCT_US:74969002|UMLS:C0013581|UMLS:C0023309	hp.json	Abnormality of lens position|Lens dislocation	http://purl.obolibrary.org/obo/HP_0001083							hposlim_core
HP:0001084	biolink:PhenotypicFeature	Corneal arcus	A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.	MSH:D001112|SNOMEDCT_US:111522004|SNOMEDCT_US:231924000|SNOMEDCT_US:231925004|UMLS:C0003742|UMLS:C0339268	hp.json	Anterior embryotoxon|Arcus lipoidis|Arcus senilis|Corneal annulus|Gerontoxon|Arcus juvenilis	http://purl.obolibrary.org/obo/HP_0001084							
HP:0001085	biolink:PhenotypicFeature	Papilledema	Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.	MSH:D010211|SNOMEDCT_US:248487006|SNOMEDCT_US:423341008|SNOMEDCT_US:73221001|UMLS:C0030353	hp.json		http://purl.obolibrary.org/obo/HP_0001085							hposlim_core
HP:0001087	biolink:PhenotypicFeature	Developmental glaucoma	Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.	MSH:D006871|SNOMEDCT_US:204113001|SNOMEDCT_US:413728006|UMLS:C0020302	hp.json	Paediatric glaucoma|Childhood glaucoma|Infantile glaucoma|Pediatric glaucoma	http://purl.obolibrary.org/obo/HP_0001087							
HP:0001088	biolink:PhenotypicFeature	Brushfield spots	The presence of whitish spots in a ring-like arrangement at the periphery of the iris.	SNOMEDCT_US:400960002|UMLS:C1303007|UMLS:C4280604	hp.json	Speckled iris|Iris brushfield spots	http://purl.obolibrary.org/obo/HP_0001088							hposlim_core
HP:0001089	biolink:PhenotypicFeature	Iris atrophy	Loss of iris tissue (atrophy)	SNOMEDCT_US:95709007|UMLS:C0423319	hp.json	Iris degeneration	http://purl.obolibrary.org/obo/HP_0001089							
HP:0001090	biolink:PhenotypicFeature	Abnormally large globe	Diffusely large eye (with megalocornea) without glaucoma.	SNOMEDCT_US:246920008|UMLS:C0423221|UMLS:C1855852|UMLS:C4280603	hp.json	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							
HP:0001092	biolink:PhenotypicFeature	Absent lacrimal punctum	No identifiable superior and/or inferior lacrimal punctum.	MSH:C566703|SNOMEDCT_US:204208005|SNOMEDCT_US:253217007|UMLS:C0344509|UMLS:C1867060	hp.json	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							hposlim_core
HP:0001093	biolink:PhenotypicFeature	Optic nerve dysplasia	The presence of developmental dysplasia of the optic nerve.	UMLS:C2676026	hp.json		http://purl.obolibrary.org/obo/HP_0001093							
HP:0001094	biolink:PhenotypicFeature	Iridocyclitis	A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.	MSH:D015863|SNOMEDCT_US:77971008|UMLS:C0022073	hp.json		http://purl.obolibrary.org/obo/HP_0001094							
HP:0001095	biolink:PhenotypicFeature	Hypertensive retinopathy		MSH:D058437|SNOMEDCT_US:6962006|UMLS:C0152132	hp.json		http://purl.obolibrary.org/obo/HP_0001095							secondary_consequence
HP:0001096	biolink:PhenotypicFeature	Keratoconjunctivitis	Inflammation of the cornea and conjunctiva.	MSH:D007637|SNOMEDCT_US:88151007|UMLS:C0022573	hp.json		http://purl.obolibrary.org/obo/HP_0001096							hposlim_core
HP:0001097	biolink:PhenotypicFeature	Keratoconjunctivitis sicca	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.	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	hp.json	Dry eyes|Dry eye syndrome|Keratitis sicca|Xerophthalmia	http://purl.obolibrary.org/obo/HP_0001097							hposlim_core
HP:0001098	biolink:PhenotypicFeature	Abnormal fundus morphology	Any structural abnormality of the fundus of the eye.	UMLS:C4025804	hp.json	Abnormality of the fundus	http://purl.obolibrary.org/obo/HP_0001098							
HP:0001099	biolink:PhenotypicFeature	Fundus atrophy		UMLS:C2673929	hp.json		http://purl.obolibrary.org/obo/HP_0001099							
HP:0001100	biolink:PhenotypicFeature	Heterochromia iridis	Heterochromia iridis is a difference in the color of the iris in the two eyes.	MSH:C538115|SNOMEDCT_US:247033008|UMLS:C0423318	hp.json	Different colored eyes|Different coloured eyes|Heterochromia irides	http://purl.obolibrary.org/obo/HP_0001100							hposlim_core
HP:0001101	biolink:PhenotypicFeature	Iritis	Inflammation of the iris.	MSH:D007500|SNOMEDCT_US:65074000|UMLS:C0022081	hp.json	Inflammation of iris	http://purl.obolibrary.org/obo/HP_0001101							
HP:0001102	biolink:PhenotypicFeature	Angioid streaks of the fundus	Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.	MSH:D000793|UMLS:C0002982	hp.json	Angioid streaks|Angioid streaks of the retina|Angioid streaks, retina|Knapp streaks|Laquer cracks of the retina	http://purl.obolibrary.org/obo/HP_0001102							
HP:0001103	biolink:PhenotypicFeature	Abnormal macular morphology	A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.	SNOMEDCT_US:312999006|UMLS:C0730362	hp.json	Abnormality of the macula|Macula abnormality|Macular abnormality	http://purl.obolibrary.org/obo/HP_0001103							hposlim_core
HP:0001104	biolink:PhenotypicFeature	Macular hypoplasia	Underdevelopment of the macula lutea.	UMLS:C1849412	hp.json		http://purl.obolibrary.org/obo/HP_0001104							hposlim_core
HP:0001105	biolink:PhenotypicFeature	Retinal atrophy	Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.	MSH:D012162|SNOMEDCT_US:405722004|SNOMEDCT_US:95695004|UMLS:C0035304|UMLS:C0521694	hp.json		http://purl.obolibrary.org/obo/HP_0001105							
HP:0001106	biolink:PhenotypicFeature	Periorbital hyperpigmentation	Increased pigmentation of the skin in the region surrounding the orbit of the eye.	UMLS:C1844606	hp.json	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							
HP:0001107	biolink:PhenotypicFeature	Ocular albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.	MSH:D016117|SNOMEDCT_US:26399002|UMLS:C0078917	hp.json	Absent pigmentation in the eye|Albinism, Ocular	http://purl.obolibrary.org/obo/HP_0001107							
HP:0001112	biolink:PhenotypicFeature	Leber optic atrophy	Degeneration of retinal ganglion cells and their axons.	MSH:D029242|SNOMEDCT_US:58610003|UMLS:C0917796	hp.json	Leber optic atrophy features|Leber optic degeneration	http://purl.obolibrary.org/obo/HP_0001112							
HP:0001113	biolink:PhenotypicFeature	obsolete Early cataracts			hp.json		http://purl.obolibrary.org/obo/HP_0001113							
HP:0001114	biolink:PhenotypicFeature	Xanthelasma	The presence of xanthomata in the skin of the eyelid.	MSH:D014973|SNOMEDCT_US:63103006|SNOMEDCT_US:6400008|SNOMEDCT_US:75594004|UMLS:C0155210|UMLS:C0302314|UMLS:C4280601|UMLS:C4280602	hp.json	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							
HP:0001115	biolink:PhenotypicFeature	Posterior polar cataract	A polar cataract that affects the posterior pole of the lens.	UMLS:C1850191	hp.json	Polar cataract, posterior	http://purl.obolibrary.org/obo/HP_0001115							
HP:0001116	biolink:PhenotypicFeature	Macular coloboma	A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.	MSH:C535968|UMLS:C1852767	hp.json	Coloboma of the macula	http://purl.obolibrary.org/obo/HP_0001116							
HP:0001117	biolink:PhenotypicFeature	Sudden loss of visual acuity	Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.	UMLS:C4025803|UMLS:C4072828|UMLS:C4280600	hp.json	Sudden decrease in vision|Sudden central visual loss	http://purl.obolibrary.org/obo/HP_0001117							
HP:0001118	biolink:PhenotypicFeature	Juvenile cataract	A type of cataract that is not apparent at birth but that arises in childhood or adolescence.	SNOMEDCT_US:399336001|UMLS:C0302254	hp.json		http://purl.obolibrary.org/obo/HP_0001118							
HP:0001119	biolink:PhenotypicFeature	Keratoglobus	Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.	UMLS:C3887531	hp.json		http://purl.obolibrary.org/obo/HP_0001119							hposlim_core
HP:0001120	biolink:PhenotypicFeature	Abnormality of corneal size	Any abnormality of the size or morphology of the cornea.	UMLS:C4025802	hp.json		http://purl.obolibrary.org/obo/HP_0001120							
HP:0001122	biolink:PhenotypicFeature	obsolete Aplasia/Hypoplasia of the choroid			hp.json		http://purl.obolibrary.org/obo/HP_0001122							
HP:0001123	biolink:PhenotypicFeature	Visual field defect		SNOMEDCT_US:12184005|UMLS:C3887875	hp.json	Partial loss of field of vision|Visual field defects	http://purl.obolibrary.org/obo/HP_0001123							
HP:0001125	biolink:PhenotypicFeature	Transient unilateral blurring of vision	Transient blurring of vision associated with the aura phase of migraine.	UMLS:C1865332	hp.json	Hemianoptic blurring of vision|Transient unilateral blurred vision|Hemianopic blurring	http://purl.obolibrary.org/obo/HP_0001125							
HP:0001126	biolink:PhenotypicFeature	Cryptophthalmos	Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.	SNOMEDCT_US:400951005|UMLS:C0311249	hp.json		http://purl.obolibrary.org/obo/HP_0001126							hposlim_core
HP:0001128	biolink:PhenotypicFeature	Trichiasis	Inversion and rubbing of the eyelashes against the globe of the eye.	MSH:D058457|SNOMEDCT_US:60332004|UMLS:C0221259	hp.json	Ingrown eyelashes|Introversion of eyelashes|Trichiasis of eyelid eyelashes	http://purl.obolibrary.org/obo/HP_0001128							
HP:0001129	biolink:PhenotypicFeature	Large central visual field defect		UMLS:C4025800	hp.json	Large central loss of field of vision	http://purl.obolibrary.org/obo/HP_0001129							
HP:0001131	biolink:PhenotypicFeature	Corneal dystrophy	An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.	SNOMEDCT_US:5587004|UMLS:C0010036	hp.json		http://purl.obolibrary.org/obo/HP_0001131							hposlim_core
HP:0001132	biolink:PhenotypicFeature	Lens subluxation	Partial dislocation of the lens of the eye.	MSH:D007906|SNOMEDCT_US:65814009|UMLS:C0023316	hp.json	Partially dislocated lens	http://purl.obolibrary.org/obo/HP_0001132							
HP:0001133	biolink:PhenotypicFeature	Constriction of peripheral visual field	An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.	SNOMEDCT_US:1151008|SNOMEDCT_US:267628004|UMLS:C0235095	hp.json	Limited peripheral vision|Concentric narrowing of visual field|Constricted visual field|Constricted visual fields|Visual field constriction	http://purl.obolibrary.org/obo/HP_0001133							
HP:0001134	biolink:PhenotypicFeature	Anterior polar cataract	A polar cataract that affects the anterior pole of the lens.	MSH:C538282|UMLS:C1855179	hp.json	Polar cataract, anterior	http://purl.obolibrary.org/obo/HP_0001134							
HP:0001135	biolink:PhenotypicFeature	Chorioretinal dystrophy		UMLS:C1857627	hp.json		http://purl.obolibrary.org/obo/HP_0001135							
HP:0001136	biolink:PhenotypicFeature	Retinal arteriolar tortuosity	The presence of an increased number of twists and turns of the retinal arterioles.	UMLS:C1843517	hp.json	Tortuous retinal arterioles	http://purl.obolibrary.org/obo/HP_0001136							
HP:0001137	biolink:PhenotypicFeature	Alternating esotropia	Esotropia in which either eye may be used for fixation.	SNOMEDCT_US:39837002|UMLS:C0152205	hp.json	Alternating cross eyes	http://purl.obolibrary.org/obo/HP_0001137							
HP:0001138	biolink:PhenotypicFeature	Optic neuropathy		SNOMEDCT_US:82108004|UMLS:C3887709	hp.json	Damaged optic nerve	http://purl.obolibrary.org/obo/HP_0001138							
HP:0001139	biolink:PhenotypicFeature	Choroideremia		MSH:D015794|SNOMEDCT_US:75241009|UMLS:C0008525	hp.json		http://purl.obolibrary.org/obo/HP_0001139							
HP:0001140	biolink:PhenotypicFeature	Limbal dermoid	A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).	SNOMEDCT_US:5131000119107|SNOMEDCT_US:92097004|UMLS:C0496897|UMLS:C1867616	hp.json	Benign eye tumor|Benign eye tumour|Epibulbar dermoids|Epibulbar dermoid	http://purl.obolibrary.org/obo/HP_0001140							hposlim_core
HP:0001141	biolink:PhenotypicFeature	Severely reduced visual acuity	Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).	SNOMEDCT_US:397541004|UMLS:C1301509	hp.json	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							
HP:0001142	biolink:PhenotypicFeature	Lenticonus	A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.	SNOMEDCT_US:253221000|UMLS:C0239119	hp.json		http://purl.obolibrary.org/obo/HP_0001142							hposlim_core
HP:0001144	biolink:PhenotypicFeature	Orbital cyst	Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).	SNOMEDCT_US:31021007|UMLS:C0155285	hp.json	Cyst of eye socket|Orbital cysts	http://purl.obolibrary.org/obo/HP_0001144							
HP:0001145	biolink:PhenotypicFeature	obsolete Chorioretinopathy			hp.json		http://purl.obolibrary.org/obo/HP_0001145							
HP:0001146	biolink:PhenotypicFeature	obsolete Pigmentary retinal degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0001146							
HP:0001147	biolink:PhenotypicFeature	Retinal exudate	Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.	SNOMEDCT_US:39832008|UMLS:C0240897	hp.json	Retinal exudates	http://purl.obolibrary.org/obo/HP_0001147							
HP:0001149	biolink:PhenotypicFeature	Lattice corneal dystrophy	The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.	MSH:D028227|SNOMEDCT_US:1192004|SNOMEDCT_US:361199007|UMLS:C0155127	hp.json	Biber haab dimmer dystrophy	http://purl.obolibrary.org/obo/HP_0001149							
HP:0001150	biolink:PhenotypicFeature	obsolete Choroidal sclerosis			hp.json		http://purl.obolibrary.org/obo/HP_0001150							
HP:0001151	biolink:PhenotypicFeature	Impaired horizontal smooth pursuit	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.	UMLS:C1866753	hp.json	Abnormal horizontal ocular pursuit|Impaired horizontal visual pursuit	http://purl.obolibrary.org/obo/HP_0001151							
HP:0001152	biolink:PhenotypicFeature	Saccadic smooth pursuit	An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.	UMLS:C1836479	hp.json	Saccadic pursuit movements|Saccadic slow pursuit	http://purl.obolibrary.org/obo/HP_0001152							
HP:0001153	biolink:PhenotypicFeature	Septate vagina	The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.	SNOMEDCT_US:47054003|UMLS:C0266411	hp.json	Double vagina	http://purl.obolibrary.org/obo/HP_0001153							
HP:0001155	biolink:PhenotypicFeature	Abnormality of the hand	An abnormality affecting one or both hands.	MSH:D006226|SNOMEDCT_US:299033004|UMLS:C0018564	hp.json	Abnormal hands|Abnormality of the hand|Hand anomalies|Hand deformities	http://purl.obolibrary.org/obo/HP_0001155							hposlim_core
HP:0001156	biolink:PhenotypicFeature	Brachydactyly	Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.	MSH:D059327|SNOMEDCT_US:43476002|UMLS:C0221357	hp.json	Short fingers or toes|Brachydactyly syndrome	http://purl.obolibrary.org/obo/HP_0001156							
HP:0001159	biolink:PhenotypicFeature	Syndactyly	Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".	Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075	hp.json	Webbed fingers or toes	http://purl.obolibrary.org/obo/HP_0001159							
HP:0001161	biolink:PhenotypicFeature	Hand polydactyly	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.	MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733	hp.json	Extra finger|Finger polydactyly|Polydactyly of the hand|Supernumerary finger	http://purl.obolibrary.org/obo/HP_0001161							hposlim_core
HP:0001162	biolink:PhenotypicFeature	Postaxial hand polydactyly	Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).	SNOMEDCT_US:205131007|UMLS:C0431904	hp.json	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							hposlim_core
HP:0001163	biolink:PhenotypicFeature	Abnormality of the metacarpal bones	An abnormality of the metacarpal bones.	UMLS:C4021785	hp.json	Abnormality of the long bone of hand|Anomaly of the metacarpal bones	http://purl.obolibrary.org/obo/HP_0001163							
HP:0001166	biolink:PhenotypicFeature	Arachnodactyly	Abnormally long and slender fingers ("spider fingers").	MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706	hp.json	Long slender fingers|Spider fingers|Long, slender fingers	http://purl.obolibrary.org/obo/HP_0001166							
HP:0001167	biolink:PhenotypicFeature	Abnormality of finger	An anomaly of a finger.	UMLS:C2674737	hp.json	Abnormalities of the fingers|Abnormality of finger	http://purl.obolibrary.org/obo/HP_0001167							
HP:0001169	biolink:PhenotypicFeature	Broad palm	For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.	SNOMEDCT_US:48251003|UMLS:C0264142	hp.json	Broad hand|Broad hands|Broad palm|Wide palm	http://purl.obolibrary.org/obo/HP_0001169							
HP:0001171	biolink:PhenotypicFeature	Split hand	A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.	SNOMEDCT_US:299034005|UMLS:C0221373	hp.json	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							
HP:0001172	biolink:PhenotypicFeature	Abnormal thumb morphology	An abnormal structure of the first digit of the hand.	MSH:C536903|SNOMEDCT_US:299130003|UMLS:C0575897	hp.json	Abnormality of the thumb|Abnormality of the thumbs|Thumb deformity	http://purl.obolibrary.org/obo/HP_0001172							
HP:0001176	biolink:PhenotypicFeature	Large hands		SNOMEDCT_US:249752003|UMLS:C0426870	hp.json	Large hands|large hand|Disproportionately large hands	http://purl.obolibrary.org/obo/HP_0001176							
HP:0001177	biolink:PhenotypicFeature	Preaxial hand polydactyly	Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.	MSH:C536332|SNOMEDCT_US:205135003|SNOMEDCT_US:445216006|UMLS:C1395852	hp.json	Extra thumb|Polydactyly affecting the thumb|Preaxial polydactyly of hands|Supernumerary thumb|thumb polydactyly	http://purl.obolibrary.org/obo/HP_0001177							
HP:0001178	biolink:PhenotypicFeature	Ulnar claw	An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.	UMLS:C4025799	hp.json		http://purl.obolibrary.org/obo/HP_0001178							
HP:0001180	biolink:PhenotypicFeature	Hand oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of fingers.	SNOMEDCT_US:71358006|UMLS:C0728895	hp.json	Hand has less than 5 fingers	http://purl.obolibrary.org/obo/HP_0001180							
HP:0001181	biolink:PhenotypicFeature	Adducted thumb	In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.	UMLS:C3554617	hp.json	Inward turned thumb|Adducted thumbs	http://purl.obolibrary.org/obo/HP_0001181							
HP:0001182	biolink:PhenotypicFeature	Tapered finger	The gradual reduction in girth of the finger from proximal to distal.	SNOMEDCT_US:249768009|UMLS:C0426886	hp.json	Tapered finger|Tapered fingertips|Tapering fingers|Distally tapering fingers|Tapered fingers	http://purl.obolibrary.org/obo/HP_0001182							hposlim_core
HP:0001187	biolink:PhenotypicFeature	Hyperextensibility of the finger joints	The ability of the finger joints to move beyond their normal range of motion.	UMLS:C1844577	hp.json	Finger joint hyperextensibility|Hyperextensible digits|Hyperextensible finger|Hyperextensible fingers	http://purl.obolibrary.org/obo/HP_0001187							
HP:0001188	biolink:PhenotypicFeature	Hand clenching	An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.	UMLS:C0239815	hp.json	Clenched hands|Hand clenching	http://purl.obolibrary.org/obo/HP_0001188							hposlim_core
HP:0001191	biolink:PhenotypicFeature	Abnormality of the carpal bones	An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).	UMLS:C1840535	hp.json	Abnormal wrist bones|Abnormal carpal bones|Anomalous carpal bones|Carpal bone anomalies	http://purl.obolibrary.org/obo/HP_0001191							hposlim_core
HP:0001193	biolink:PhenotypicFeature	Ulnar deviation of the hand or of fingers of the hand		UMLS:C4048199	hp.json		http://purl.obolibrary.org/obo/HP_0001193							
HP:0001194	biolink:PhenotypicFeature	Abnormalities of placenta or umbilical cord	An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).	UMLS:C4025798	hp.json	Abnormalities of placenta or umbilical cord	http://purl.obolibrary.org/obo/HP_0001194							
HP:0001195	biolink:PhenotypicFeature	Single umbilical artery	Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.	MSH:D058529|SNOMEDCT_US:204470001|UMLS:C1384670	hp.json	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							
HP:0001196	biolink:PhenotypicFeature	Short umbilical cord	Decreased length of the umbilical cord.	SNOMEDCT_US:59795007|UMLS:C0266786	hp.json	Short umbilical cord	http://purl.obolibrary.org/obo/HP_0001196							
HP:0001197	biolink:PhenotypicFeature	Abnormality of prenatal development or birth	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.	UMLS:C4025797	hp.json	Abnormality of prenatal development or birth	http://purl.obolibrary.org/obo/HP_0001197							
HP:0001199	biolink:PhenotypicFeature	Triphalangeal thumb	A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.	MSH:C573898|SNOMEDCT_US:205308004|UMLS:C0241397	hp.json	Finger-like thumb|Accessory phalanx of the thumb|Digitalized thumb|Triphalangeal thumbs|Triphalangy of thumb	http://purl.obolibrary.org/obo/HP_0001199							hposlim_core
HP:0001204	biolink:PhenotypicFeature	Distal symphalangism of hands	The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.	UMLS:C1862158	hp.json	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							
HP:0001211	biolink:PhenotypicFeature	Abnormal fingertip morphology	An abnormal structure of the tip (end) of a finger.	UMLS:C4025796	hp.json	Abnormality of the fingertips	http://purl.obolibrary.org/obo/HP_0001211							
HP:0001212	biolink:PhenotypicFeature	Prominent fingertip pads	A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.	UMLS:C1835807	hp.json	Prominent finger pads|Prominent fingertip pads|Persistent foetal fingertip pads|Persistence of fingerpads|Persistent fetal fingertip pads	http://purl.obolibrary.org/obo/HP_0001212							hposlim_core
HP:0001215	biolink:PhenotypicFeature	Camptodactyly of 2nd-5th fingers	The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.	UMLS:C1859368	hp.json		http://purl.obolibrary.org/obo/HP_0001215							
HP:0001216	biolink:PhenotypicFeature	Delayed ossification of carpal bones	Ossification of carpal bones occurs later than age-adjusted norms.	UMLS:C1841684|UMLS:C4280599	hp.json	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							hposlim_core
HP:0001217	biolink:PhenotypicFeature	Clubbing	Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.	SNOMEDCT_US:367004|UMLS:C0149651	hp.json	Clubbing of fingers and toes|Digital clubbing	http://purl.obolibrary.org/obo/HP_0001217							
HP:0001218	biolink:PhenotypicFeature	Autoamputation	Spontaneous detachment (amputation) of an appendage from the body.	UMLS:C1833222	hp.json		http://purl.obolibrary.org/obo/HP_0001218							
HP:0001220	biolink:PhenotypicFeature	Interphalangeal joint contracture of finger	Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.	UMLS:C4021784	hp.json	Interphalangeal joint flexion contractures	http://purl.obolibrary.org/obo/HP_0001220							
HP:0001222	biolink:PhenotypicFeature	Spatulate thumbs	Spoon-shaped, broad thumbs.	UMLS:C0241395	hp.json	Spoon shaped thumbs	http://purl.obolibrary.org/obo/HP_0001222							
HP:0001223	biolink:PhenotypicFeature	Pointed proximal second through fifth metacarpals	All of the metacarpal bones of the hand have a pointed proximal appearance.	UMLS:C1854787	hp.json		http://purl.obolibrary.org/obo/HP_0001223							
HP:0001225	biolink:PhenotypicFeature	Wrist swelling		UMLS:C0241760	hp.json	Wrist swelling	http://purl.obolibrary.org/obo/HP_0001225							
HP:0001226	biolink:PhenotypicFeature	obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits			hp.json		http://purl.obolibrary.org/obo/HP_0001226							
HP:0001227	biolink:PhenotypicFeature	Abnormality of the thenar eminence	An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.	UMLS:C4021783	hp.json	Thenar abnormality	http://purl.obolibrary.org/obo/HP_0001227							
HP:0001230	biolink:PhenotypicFeature	Broad metacarpals	Abnormally broad metacarpal bones.	UMLS:C1842229	hp.json	Wide long bones of hand|Wide metacarpals	http://purl.obolibrary.org/obo/HP_0001230							hposlim_core
HP:0001231	biolink:PhenotypicFeature	Abnormal fingernail morphology	An abnormality of the fingernails.	UMLS:C4021782	hp.json	Abnormal fingernails|Abnormality of the fingernails	http://purl.obolibrary.org/obo/HP_0001231							
HP:0001232	biolink:PhenotypicFeature	Nail bed telangiectasia	Telangiectases in the area of the nails.	UMLS:C1838167	hp.json	Nail bed telangiectases	http://purl.obolibrary.org/obo/HP_0001232							
HP:0001233	biolink:PhenotypicFeature	2-3 finger syndactyly	Syndactyly with fusion of fingers two and three.	SNOMEDCT_US:205139009|UMLS:C0432055	hp.json	Webbed 2nd-3rd fingers|Syndactyly 2nd-3rd fingers|Syndactyly, 2-3 finger	http://purl.obolibrary.org/obo/HP_0001233							
HP:0001234	biolink:PhenotypicFeature	Hitchhiker thumb	With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.	UMLS:C1857269	hp.json	Hitchhiker thumb|Abducted thumb	http://purl.obolibrary.org/obo/HP_0001234							hposlim_core
HP:0001238	biolink:PhenotypicFeature	Slender finger	Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.	UMLS:C1857482	hp.json	Narrow fingers|Slender finger|Slender fingers|thin fingers	http://purl.obolibrary.org/obo/HP_0001238							hposlim_core
HP:0001239	biolink:PhenotypicFeature	Wrist flexion contracture	A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.	SNOMEDCT_US:202275008|UMLS:C0409345	hp.json	Wrist contracture|Wrist flexion deformity	http://purl.obolibrary.org/obo/HP_0001239							
HP:0001241	biolink:PhenotypicFeature	Capitate-hamate fusion		UMLS:C1857002	hp.json	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	biolink:PhenotypicFeature	Small thenar eminence	Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.	UMLS:C1846474	hp.json	Decreased thenar eminence|Hypoplastic thenar eminences|Thenar hypoplasia|Thenar muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0001245							hposlim_core
HP:0001248	biolink:PhenotypicFeature	Short tubular bones of the hand	Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.	UMLS:C4025795	hp.json	Shortened short tubular bones of the hand	http://purl.obolibrary.org/obo/HP_0001248							
HP:0001249	biolink:PhenotypicFeature	Intellectual disability	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.	MSH:D008607|SNOMEDCT_US:228156007|SNOMEDCT_US:247578003|SNOMEDCT_US:91138005|UMLS:C0025362|UMLS:C0423903|UMLS:C0917816|UMLS:C1843367|UMLS:C3714756|UMLS:C4020876	hp.json	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							
HP:0001250	biolink:PhenotypicFeature	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.	MSH:D004827|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|SNOMEDCT_US:313307000|SNOMEDCT_US:84757009|SNOMEDCT_US:91175000|UMLS:C0014544|UMLS:C0036572	hp.json	Seizures|Seizures|Epilepsy|Epileptic seizure	http://purl.obolibrary.org/obo/HP_0001250							
HP:0001251	biolink:PhenotypicFeature	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).	MSH:D002524|SNOMEDCT_US:85102008|UMLS:C0007758	hp.json	Cerebellar ataxia	http://purl.obolibrary.org/obo/HP_0001251							
HP:0001252	biolink:PhenotypicFeature	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.	MSH:D009123|SNOMEDCT_US:398151007|SNOMEDCT_US:398152000|UMLS:C0026827	hp.json	Low muscle tone|Low or weak muscle tone|Muscle hypotonia|Muscular hypotonia|Central hypotonia|Peripheral hypotonia	http://purl.obolibrary.org/obo/HP_0001252							
HP:0001254	biolink:PhenotypicFeature	Lethargy	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.	MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380	hp.json	Lethargy	http://purl.obolibrary.org/obo/HP_0001254							
HP:0001256	biolink:PhenotypicFeature	Intellectual disability, mild	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.	SNOMEDCT_US:86765009|UMLS:C0026106	hp.json	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							
HP:0001257	biolink:PhenotypicFeature	Spasticity	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.	MSH:D009128|SNOMEDCT_US:221360009|SNOMEDCT_US:397790002|UMLS:C0026838	hp.json	Involuntary muscle stiffness, contraction, or spasm|Muscle spasticity|Muscular spasticity	http://purl.obolibrary.org/obo/HP_0001257							
HP:0001258	biolink:PhenotypicFeature	Spastic paraplegia	Spasticity and weakness of the leg and hip muscles.	MSH:D010264|SNOMEDCT_US:192967009|UMLS:C0037772	hp.json	Spastic paraplegia, lower limb	http://purl.obolibrary.org/obo/HP_0001258							
HP:0001259	biolink:PhenotypicFeature	Coma	Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.	ICD-10:R40.2|MSH:D003128|SNOMEDCT_US:371632003|UMLS:C0009421	hp.json	Coma	http://purl.obolibrary.org/obo/HP_0001259							
HP:0001260	biolink:PhenotypicFeature	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.	MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362	hp.json	Difficulty articulating speech|Dysarthric speech	http://purl.obolibrary.org/obo/HP_0001260							
HP:0001262	biolink:PhenotypicFeature	Excessive daytime somnolence	A state of abnormally strong desire for sleep during the daytime.	SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C2830004	hp.json	Excessive daytime sleepiness|More than typical sleepiness during day	http://purl.obolibrary.org/obo/HP_0001262							
HP:0001263	biolink:PhenotypicFeature	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.	SNOMEDCT_US:224958001|UMLS:C0557874|UMLS:C1864897|UMLS:C4020875	hp.json	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							
HP:0001264	biolink:PhenotypicFeature	Spastic diplegia	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.	MSH:D002547|SNOMEDCT_US:281411007|UMLS:C0023882	hp.json	Spastic diparesis	http://purl.obolibrary.org/obo/HP_0001264							
HP:0001265	biolink:PhenotypicFeature	Hyporeflexia	Reduction of neurologic reflexes such as the knee-jerk reaction.	SNOMEDCT_US:405946002|UMLS:C0700078	hp.json	Decreased reflex response|Decreased reflexes	http://purl.obolibrary.org/obo/HP_0001265							
HP:0001266	biolink:PhenotypicFeature	Choreoathetosis	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).	SNOMEDCT_US:43105007|UMLS:C0085583|UMLS:C0234967	hp.json	Choreoathetoid movements	http://purl.obolibrary.org/obo/HP_0001266							
HP:0001268	biolink:PhenotypicFeature	Mental deterioration	Loss of previously present mental abilities, generally in adults.	MSH:D060825|UMLS:C0234985	hp.json	Cognitive decline|Cognitive decline, progressive|Intellectual deterioration|Mental deterioration|Progressive cognitive decline	http://purl.obolibrary.org/obo/HP_0001268							
HP:0001269	biolink:PhenotypicFeature	Hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.	MSH:D010291|SNOMEDCT_US:127377003|SNOMEDCT_US:20022000|UMLS:C0018989	hp.json	Weakness of one side of body	http://purl.obolibrary.org/obo/HP_0001269							
HP:0001270	biolink:PhenotypicFeature	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.	UMLS:C1854301|UMLS:C4020874	hp.json	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							
HP:0001271	biolink:PhenotypicFeature	Polyneuropathy	A generalized disorder of peripheral nerves.	MSH:D010523|MSH:D011115|SNOMEDCT_US:302226006|SNOMEDCT_US:42345000|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C0152025	hp.json	Peripheral nerve disease	http://purl.obolibrary.org/obo/HP_0001271							
HP:0001272	biolink:PhenotypicFeature	Cerebellar atrophy	Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.	SNOMEDCT_US:95646004|UMLS:C0262404|UMLS:C0740279|UMLS:C4020873	hp.json	Degeneration of cerebellum|Atrophic cerebellum|Infratentorial atrophy	http://purl.obolibrary.org/obo/HP_0001272							
HP:0001273	biolink:PhenotypicFeature	Abnormal corpus callosum morphology	Abnormality of the corpus callosum.	UMLS:C1842581	hp.json	Abnormal corpus callosum|Abnormality of the corpus callosum|Corpus callosum abnormality	http://purl.obolibrary.org/obo/HP_0001273							
HP:0001274	biolink:PhenotypicFeature	Agenesis of corpus callosum	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.	Fyler:4321|MSH:D061085|SNOMEDCT_US:5102002|UMLS:C0175754	hp.json	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							
HP:0001276	biolink:PhenotypicFeature	Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.	MSH:D009122|SNOMEDCT_US:41581000|SNOMEDCT_US:56731001|UMLS:C0026826	hp.json	Spasticity and rigidity of muscles|Hypertonicity|Increased muscle tone|Muscle hypertonia	http://purl.obolibrary.org/obo/HP_0001276							
HP:0001278	biolink:PhenotypicFeature	Orthostatic hypotension	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.	MSH:D007024|SNOMEDCT_US:28651003|UMLS:C0020651	hp.json	Decrease in blood pressure upon standing up|Postural hypotension	http://purl.obolibrary.org/obo/HP_0001278							
HP:0001279	biolink:PhenotypicFeature	Syncope	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.	MSH:D013575|SNOMEDCT_US:271594007|SNOMEDCT_US:272030005|SNOMEDCT_US:309585006|UMLS:C0039070	hp.json	Fainting spell	http://purl.obolibrary.org/obo/HP_0001279							
HP:0001281	biolink:PhenotypicFeature	Tetany	A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.	MSH:D013746|SNOMEDCT_US:10629009|UMLS:C0039621	hp.json	Intermittent involuntary muscle spasm	http://purl.obolibrary.org/obo/HP_0001281							
HP:0001283	biolink:PhenotypicFeature	Bulbar palsy	Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.	MSH:D010244|SNOMEDCT_US:398432008|UMLS:C1301959|UMLS:C4082299	hp.json	Bulbar muscle weakness|Bulbar palsies|Bulbar weakness	http://purl.obolibrary.org/obo/HP_0001283							
HP:0001284	biolink:PhenotypicFeature	Areflexia	Absence of neurologic reflexes such as the knee-jerk reaction.	MSH:D012021|SNOMEDCT_US:349006|SNOMEDCT_US:37280007|UMLS:C0234146|UMLS:C0241772|UMLS:C0278124	hp.json	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							
HP:0001285	biolink:PhenotypicFeature	Spastic tetraparesis	Spastic weakness affecting all four limbs.	SNOMEDCT_US:298282001|UMLS:C0575059	hp.json	Spastic quadriparesis	http://purl.obolibrary.org/obo/HP_0001285							
HP:0001287	biolink:PhenotypicFeature	Meningitis	Inflammation of the meninges.	MSH:D008581|SNOMEDCT_US:7180009|UMLS:C0025289	hp.json		http://purl.obolibrary.org/obo/HP_0001287							
HP:0001288	biolink:PhenotypicFeature	Gait disturbance	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.	SNOMEDCT_US:22325002|UMLS:C0575081	hp.json	Abnormal gait|Abnormal walk|Impaired gait|Gait abnormalities|Gait difficulties|Gait disturbances	http://purl.obolibrary.org/obo/HP_0001288							
HP:0001289	biolink:PhenotypicFeature	Confusion	Lack of clarity and coherence of thought, perception, understanding, or action.	MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676	hp.json	Confusion|Disorientation|Easily confused|Mental disorientation	http://purl.obolibrary.org/obo/HP_0001289							
HP:0001290	biolink:PhenotypicFeature	Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).	UMLS:C1858120	hp.json	Generalized decreased muscle tone|Generalised decreased muscle tone|Generalised hypotonia|Generalised muscular hypotonia|Hypotonia, generalised|Generalized muscular hypotonia|Hypotonia, generalized	http://purl.obolibrary.org/obo/HP_0001290							
HP:0001291	biolink:PhenotypicFeature	Abnormal cranial nerve morphology	Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.	UMLS:C1854510|UMLS:C4020872	hp.json	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							
HP:0001293	biolink:PhenotypicFeature	Cranial nerve compression		SNOMEDCT_US:95664006|UMLS:C0521670	hp.json		http://purl.obolibrary.org/obo/HP_0001293							
HP:0001297	biolink:PhenotypicFeature	Stroke	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.	MSH:D020521|SNOMEDCT_US:230690007|UMLS:C0038454	hp.json	Stroke|Cerebral vascular events|Cerebrovascular accident|Cerebrovascular accidents	http://purl.obolibrary.org/obo/HP_0001297							
HP:0001298	biolink:PhenotypicFeature	Encephalopathy	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.	MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584	hp.json		http://purl.obolibrary.org/obo/HP_0001298							
HP:0001300	biolink:PhenotypicFeature	Parkinsonism	Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.	MSH:D020734|SNOMEDCT_US:32798002|UMLS:C0242422	hp.json	Parkinsonian disease	http://purl.obolibrary.org/obo/HP_0001300							
HP:0001301	biolink:PhenotypicFeature	Chronic sensorineural polyneuropathy		UMLS:C4025794	hp.json		http://purl.obolibrary.org/obo/HP_0001301							
HP:0001302	biolink:PhenotypicFeature	Pachygyria	Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.	MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483	hp.json	Fewer and broader ridges in brain|Cerebral pachygyria	http://purl.obolibrary.org/obo/HP_0001302							
HP:0001304	biolink:PhenotypicFeature	Torsion dystonia	Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.	MSH:D004422|SNOMEDCT_US:22451001|SNOMEDCT_US:431034009|UMLS:C0013423	hp.json	Dystonia musculorum deformans	http://purl.obolibrary.org/obo/HP_0001304							
HP:0001305	biolink:PhenotypicFeature	Dandy-Walker malformation	A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.	MSH:D003616|SNOMEDCT_US:14447001|UMLS:C0010964	hp.json	Dandy-Walker cyst|Dandy-walker anomaly	http://purl.obolibrary.org/obo/HP_0001305							
HP:0001308	biolink:PhenotypicFeature	Tongue fasciculations	Fasciculations or fibrillation affecting the tongue muscle.	MSH:D005207|SNOMEDCT_US:249878001|UMLS:C0239548	hp.json	Tongue twitching|Twitching of the tongue|Lingual fasciculations|Lingual fibrillations|Lingual twitching|Tongue fasciculation|Tongue fasciculations/fibrillations	http://purl.obolibrary.org/obo/HP_0001308							
HP:0001310	biolink:PhenotypicFeature	Dysmetria	A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.	MSH:D002524|SNOMEDCT_US:32566006|UMLS:C0234162	hp.json	Lack of coordination of movement|Abnormal finger chase test|Abnormal finger-nose-finger test	http://purl.obolibrary.org/obo/HP_0001310							
HP:0001311	biolink:PhenotypicFeature	Abnormal nervous system electrophysiology	An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.	UMLS:C4021781	hp.json	Neurophysiologic abnormalities|Neurophysiologic abnormality	http://purl.obolibrary.org/obo/HP_0001311							
HP:0001312	biolink:PhenotypicFeature	Giant somatosensory evoked potentials	An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.	UMLS:C3806961	hp.json	Giant SEPS	http://purl.obolibrary.org/obo/HP_0001312							
HP:0001315	biolink:PhenotypicFeature	Reduced tendon reflexes	Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.	UMLS:C1866934	hp.json	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							
HP:0001317	biolink:PhenotypicFeature	Abnormal cerebellum morphology	Any structural abnormality of the cerebellum.	UMLS:C0742038|UMLS:C1866129	hp.json	Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar abnormality|Cerebellar anomaly|Cerebellar signs	http://purl.obolibrary.org/obo/HP_0001317							
HP:0001319	biolink:PhenotypicFeature	Neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.	MSH:D009123|SNOMEDCT_US:205294008|UMLS:C2267233	hp.json	Low muscle tone, in neonatal onset|Hypotonia, in neonatal onset|Hypotonia, neonatal|Congenital hypotonia	http://purl.obolibrary.org/obo/HP_0001319							
HP:0001320	biolink:PhenotypicFeature	Cerebellar vermis hypoplasia	Underdevelopment of the vermis of cerebellum.	UMLS:C1840379	hp.json	Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis|Hypoplastic cerebellar vermis	http://purl.obolibrary.org/obo/HP_0001320							
HP:0001321	biolink:PhenotypicFeature	Cerebellar hypoplasia	Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.	MSH:C562568|SNOMEDCT_US:16026008|UMLS:C0266470	hp.json	Small cerebellum|Underdeveloped cerebellum|Congenital cerebellar hypoplasia|Hypoplasia of cerebellum|Hypoplastic cerebellum	http://purl.obolibrary.org/obo/HP_0001321							
HP:0001322	biolink:PhenotypicFeature	obsolete Brain very small			hp.json		http://purl.obolibrary.org/obo/HP_0001322							
HP:0001324	biolink:PhenotypicFeature	Muscle weakness	Reduced strength of muscles.	MSH:D018908|SNOMEDCT_US:26544005|UMLS:C0151786	hp.json	Muscle weakness|Muscular weakness	http://purl.obolibrary.org/obo/HP_0001324							
HP:0001325	biolink:PhenotypicFeature	Hypoglycemic coma		SNOMEDCT_US:267384006|UMLS:C0020617	hp.json	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	biolink:PhenotypicFeature	EEG with irregular generalized spike and wave complexes	EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.	UMLS:C4025792	hp.json	EEG with irregular generalised spike and wave complexes	http://purl.obolibrary.org/obo/HP_0001326							
HP:0001327	biolink:PhenotypicFeature	Photosensitive myoclonic seizure	Generalised myoclonic seizure provoked by flashing or flickering light.	UMLS:C4025791	hp.json	Photomyoclonic seizures|Photically induced myoclonic seizure|Photomyoclonic seizure	http://purl.obolibrary.org/obo/HP_0001327							
HP:0001328	biolink:PhenotypicFeature	Specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.	UMLS:C4025790	hp.json		http://purl.obolibrary.org/obo/HP_0001328							
HP:0001331	biolink:PhenotypicFeature	Absent septum pellucidum	Absence of the septum pellucidum.	MSH:C535562|SNOMEDCT_US:253143001|UMLS:C0431371	hp.json	Absence of septum pellucidum|Absence of the septum pellucidum|Agenesis of the septum pellucidum|Missing septum pellucidum	http://purl.obolibrary.org/obo/HP_0001331							
HP:0001332	biolink:PhenotypicFeature	Dystonia	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.	MSH:D004421|UMLS:C0013421|UMLS:C4020871	hp.json	Dystonic movements|Dystonic disease	http://purl.obolibrary.org/obo/HP_0001332							
HP:0001334	biolink:PhenotypicFeature	Communicating hydrocephalus	A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.	MSH:D006849|SNOMEDCT_US:271569006|UMLS:C0009451	hp.json		http://purl.obolibrary.org/obo/HP_0001334							
HP:0001335	biolink:PhenotypicFeature	Bimanual synkinesia	Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.	SNOMEDCT_US:229247004|UMLS:C0454455	hp.json	Hand mirror movements|Mirror hand movements|Mirror movements	http://purl.obolibrary.org/obo/HP_0001335							
HP:0001336	biolink:PhenotypicFeature	Myoclonus	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.	MSH:D009207|SNOMEDCT_US:127324008|SNOMEDCT_US:17450006|UMLS:C0027066|UMLS:C1854302	hp.json	Jerking|Myoclonic jerks|Involuntary jerking movements	http://purl.obolibrary.org/obo/HP_0001336							
HP:0001337	biolink:PhenotypicFeature	Tremor	An unintentional, oscillating to-and-fro muscle movement about a joint axis.	MSH:D014202|SNOMEDCT_US:26079004|UMLS:C0040822	hp.json	Tremor|Tremors	http://purl.obolibrary.org/obo/HP_0001337							
HP:0001338	biolink:PhenotypicFeature	Partial agenesis of the corpus callosum	A partial failure of the development of the corpus callosum.	MSH:C536111|SNOMEDCT_US:253140003|UMLS:C0431368|UMLS:C1857278	hp.json	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							
HP:0001339	biolink:PhenotypicFeature	Lissencephaly	A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.	MSH:D054082|SNOMEDCT_US:204036008|UMLS:C0266463|UMLS:C1879312	hp.json	Fewer or absent grooves in brain	http://purl.obolibrary.org/obo/HP_0001339							
HP:0001340	biolink:PhenotypicFeature	Enhancement of the C-reflex	Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.	UMLS:C3552824	hp.json		http://purl.obolibrary.org/obo/HP_0001340							
HP:0001341	biolink:PhenotypicFeature	Olfactory lobe agenesis		UMLS:C1855331	hp.json	Olfactory lobe absence	http://purl.obolibrary.org/obo/HP_0001341							
HP:0001342	biolink:PhenotypicFeature	Cerebral hemorrhage	Hemorrhage into the parenchyma of the brain.	MSH:D002543|MSH:D020300|SNOMEDCT_US:230706003|SNOMEDCT_US:274100004|UMLS:C0553692|UMLS:C2937358	hp.json	Bleeding in brain|Cerebral haemorrhage|Intracerebral haemorrhage|Intracerebral hemorrhage|Hemorrhagic stroke	http://purl.obolibrary.org/obo/HP_0001342							
HP:0001343	biolink:PhenotypicFeature	Kernicterus	Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.	MSH:D007647|SNOMEDCT_US:50143004|SNOMEDCT_US:74925009|UMLS:C0022610	hp.json		http://purl.obolibrary.org/obo/HP_0001343							
HP:0001344	biolink:PhenotypicFeature	Absent speech	Complete lack of development of speech and language abilities.	UMLS:C0746940|UMLS:C1854882	hp.json	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							
HP:0001345	biolink:PhenotypicFeature	Psychotic mentation		UMLS:C4025789	hp.json		http://purl.obolibrary.org/obo/HP_0001345							
HP:0001347	biolink:PhenotypicFeature	Hyperreflexia	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.	MSH:D012021|SNOMEDCT_US:86854008|UMLS:C0151889	hp.json	Increased reflexes|Increased deep tendon reflexes	http://purl.obolibrary.org/obo/HP_0001347							
HP:0001348	biolink:PhenotypicFeature	Brisk reflexes	Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.	UMLS:C2673700	hp.json	Brisk deep tendon reflexes	http://purl.obolibrary.org/obo/HP_0001348							
HP:0001349	biolink:PhenotypicFeature	Facial diplegia	Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).	UMLS:C1836003	hp.json	Bilateral facial weakness|Facial paresis, bilateral	http://purl.obolibrary.org/obo/HP_0001349							hposlim_core
HP:0001350	biolink:PhenotypicFeature	Slurred speech	Abnormal coordination of muscles involved in speech.	SNOMEDCT_US:289195008|UMLS:C0234518	hp.json	Slurred speech	http://purl.obolibrary.org/obo/HP_0001350							
HP:0001351	biolink:PhenotypicFeature	Jerk-locked premyoclonus spikes	Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.	UMLS:C3552825	hp.json		http://purl.obolibrary.org/obo/HP_0001351							
HP:0001355	biolink:PhenotypicFeature	Megalencephaly	Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).	MSH:D058627|SNOMEDCT_US:19410003|UMLS:C0221355	hp.json	Enlarged brain|Macrencephaly	http://purl.obolibrary.org/obo/HP_0001355							
HP:0001357	biolink:PhenotypicFeature	Plagiocephaly	Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.	MSH:D049068|MSH:D059041|SNOMEDCT_US:21850008|SNOMEDCT_US:254024005|UMLS:C0265529|UMLS:C1450010|UMLS:C4072830|UMLS:C4280597|UMLS:C4280598|UMLS:C4280807	hp.json	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							hposlim_core
HP:0001360	biolink:PhenotypicFeature	Holoprosencephaly	Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.	Fyler:4338|MSH:D016142|SNOMEDCT_US:30915001|UMLS:C0079541	hp.json	Single brain ventricle	http://purl.obolibrary.org/obo/HP_0001360							
HP:0001361	biolink:PhenotypicFeature	Nystagmus-induced head nodding	Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.	UMLS:C4025788	hp.json		http://purl.obolibrary.org/obo/HP_0001361							
HP:0001362	biolink:PhenotypicFeature	Calvarial skull defect	A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.	UMLS:C4025787|UMLS:C4280595|UMLS:C4280596	hp.json	Cranial defect|Skull defect|Calvarial defect	http://purl.obolibrary.org/obo/HP_0001362							
HP:0001363	biolink:PhenotypicFeature	Craniosynostosis	Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.	Fyler:4336|MSH:D003398|SNOMEDCT_US:57219006|UMLS:C0010278|UMLS:C0235942	hp.json	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							hposlim_core
HP:0001367	biolink:PhenotypicFeature	Abnormal joint morphology	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.	MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408|UMLS:C0240083	hp.json	Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease	http://purl.obolibrary.org/obo/HP_0001367							
HP:0001369	biolink:PhenotypicFeature	Arthritis	Inflammation of a joint.	MSH:D001168|SNOMEDCT_US:3723001|UMLS:C0003864	hp.json	Arthritis|Joint inflammation	http://purl.obolibrary.org/obo/HP_0001369							
HP:0001370	biolink:PhenotypicFeature	Rheumatoid arthritis	Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.	MSH:D001172|SNOMEDCT_US:69896004|UMLS:C0003873	hp.json	RA|Rheumatoid arthritis	http://purl.obolibrary.org/obo/HP_0001370							
HP:0001371	biolink:PhenotypicFeature	Flexion contracture	A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.	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	hp.json	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							
HP:0001373	biolink:PhenotypicFeature	Joint dislocation	Displacement or malalignment of joints.	MSH:D004204|SNOMEDCT_US:108367008|SNOMEDCT_US:87642003|UMLS:C0012691	hp.json	Joint dislocation|Joint dislocations|Recurrent joint dislocations	http://purl.obolibrary.org/obo/HP_0001373							
HP:0001374	biolink:PhenotypicFeature	Congenital hip dislocation		MSH:D006618|SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555	hp.json	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	biolink:PhenotypicFeature	Limitation of joint mobility	A reduction in the freedom of movement of one or more joints.	UMLS:C1857108	hp.json	Decreased joint mobility|Decreased mobility of joints|Limitation of joint mobility|Limited joint mobility|Limited joint motion	http://purl.obolibrary.org/obo/HP_0001376							
HP:0001377	biolink:PhenotypicFeature	Limited elbow extension	Limited ability to straighten the arm at the elbow joint.	UMLS:C1867103	hp.json	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							hposlim_core
HP:0001379	biolink:PhenotypicFeature	obsolete Degenerative joint disease			hp.json		http://purl.obolibrary.org/obo/HP_0001379							
HP:0001380	biolink:PhenotypicFeature	obsolete Ligamentous laxity			hp.json		http://purl.obolibrary.org/obo/HP_0001380							
HP:0001382	biolink:PhenotypicFeature	Joint hypermobility	The ability of a joint to move beyond its normal range of motion.	SNOMEDCT_US:298181000|UMLS:C1844820	hp.json	Double-Jointed|Flexible joints|Increased mobility of joints|Extensible joints|Hyperextensible joints|Increased joint mobility|Joint hyperextensibility	http://purl.obolibrary.org/obo/HP_0001382							
HP:0001384	biolink:PhenotypicFeature	Abnormal hip joint morphology	An abnormality of the hip joint.	UMLS:C4020870	hp.json	Abnormality of the hip joint|Abnormality of the hip joints	http://purl.obolibrary.org/obo/HP_0001384							
HP:0001385	biolink:PhenotypicFeature	Hip dysplasia	The presence of developmental dysplasia of the hip.	MSH:D006618|SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555	hp.json	Abnormal formation of the hip|Congenital hip dysplasia	http://purl.obolibrary.org/obo/HP_0001385							
HP:0001386	biolink:PhenotypicFeature	Joint swelling		SNOMEDCT_US:271771009|UMLS:C0152031	hp.json	Joint swelling	http://purl.obolibrary.org/obo/HP_0001386							
HP:0001387	biolink:PhenotypicFeature	Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.	SNOMEDCT_US:84445001|UMLS:C0162298	hp.json	Joint stiffness|Stiff joint|Stiff joints	http://purl.obolibrary.org/obo/HP_0001387							
HP:0001388	biolink:PhenotypicFeature	Joint laxity	Lack of stability of a joint.	MSH:D007593|SNOMEDCT_US:27911000|SNOMEDCT_US:298203008|UMLS:C0086437|UMLS:C0158359	hp.json	Joint instability|Lax joints|Loose-jointedness|Loosejointedness|Hyperlaxity|Joint ligamentous laxity|Ligamentous laxity	http://purl.obolibrary.org/obo/HP_0001388							
HP:0001392	biolink:PhenotypicFeature	Abnormality of the liver	An abnormality of the liver.	MSH:D008107|SNOMEDCT_US:235856003|UMLS:C0023895|UMLS:C4021780	hp.json	Abnormal liver|Abnormality of the liver|Liver abnormality|Liver disease	http://purl.obolibrary.org/obo/HP_0001392							
HP:0001394	biolink:PhenotypicFeature	Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.	MSH:D008103|SNOMEDCT_US:19943007|UMLS:C0023890	hp.json	Scar tissue replaces healthy tissue in the liver|Hepatic cirrhosis|Liver cirrhosis	http://purl.obolibrary.org/obo/HP_0001394							
HP:0001395	biolink:PhenotypicFeature	Hepatic fibrosis	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.	MSH:D008103|SNOMEDCT_US:62484002|UMLS:C0239946	hp.json	Liver fibrosis	http://purl.obolibrary.org/obo/HP_0001395							
HP:0001396	biolink:PhenotypicFeature	Cholestasis	Impairment of bile flow due to obstruction in bile ducts.	MSH:D002779|SNOMEDCT_US:197446008|SNOMEDCT_US:30144000|SNOMEDCT_US:33688009|UMLS:C0008370	hp.json	Slowed or blocked flow of bile from liver	http://purl.obolibrary.org/obo/HP_0001396							
HP:0001397	biolink:PhenotypicFeature	Hepatic steatosis	Steatosis is a term used to denote lipid accumulation within hepatocytes.	MSH:D005234|SNOMEDCT_US:197321007|SNOMEDCT_US:442191002|UMLS:C2711227	hp.json	Fatty infiltration of liver|Fatty liver|Liver steatosis|Steatosis	http://purl.obolibrary.org/obo/HP_0001397							
HP:0001399	biolink:PhenotypicFeature	Hepatic failure		MSH:D017093|SNOMEDCT_US:59927004|UMLS:C0085605	hp.json	Liver failure	http://purl.obolibrary.org/obo/HP_0001399							
HP:0001400	biolink:PhenotypicFeature	obsolete Hepatic abscesses due to immunodeficiency			hp.json		http://purl.obolibrary.org/obo/HP_0001400							
HP:0001401	biolink:PhenotypicFeature	Intrahepatic biliary dysgenesis		UMLS:C1859235	hp.json		http://purl.obolibrary.org/obo/HP_0001401							
HP:0001402	biolink:PhenotypicFeature	Hepatocellular carcinoma	A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.	MSH:D006528|NCIT:C3099|SNOMEDCT_US:109841003|SNOMEDCT_US:187769009|SNOMEDCT_US:25370001|UMLS:C1862761|UMLS:C1867955|UMLS:C2239176	hp.json	Increased hepatocellular carcinoma risk|Increased incidence of hepatocellular carcinoma	http://purl.obolibrary.org/obo/HP_0001402							
HP:0001403	biolink:PhenotypicFeature	Macrovesicular hepatic steatosis	A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.	UMLS:C1837256	hp.json	Macrovesicular steatosis	http://purl.obolibrary.org/obo/HP_0001403							
HP:0001404	biolink:PhenotypicFeature	Hepatocellular necrosis		UMLS:C1855038	hp.json	Death of liver cells|Hepatocellular loss	http://purl.obolibrary.org/obo/HP_0001404							
HP:0001405	biolink:PhenotypicFeature	Periportal fibrosis	The presence of fibrosis affecting the interlobular stroma of liver.	UMLS:C1849766	hp.json		http://purl.obolibrary.org/obo/HP_0001405							
HP:0001406	biolink:PhenotypicFeature	Intrahepatic cholestasis	Impairment of bile flow due to obstruction in the small bile ducts within the liver.	MSH:D002780|SNOMEDCT_US:4637005|UMLS:C0008372	hp.json	Impaired release of bile from liver	http://purl.obolibrary.org/obo/HP_0001406							
HP:0001407	biolink:PhenotypicFeature	Hepatic cysts		SNOMEDCT_US:85057007|UMLS:C0267834	hp.json	Liver cysts	http://purl.obolibrary.org/obo/HP_0001407							
HP:0001408	biolink:PhenotypicFeature	Bile duct proliferation	Proliferative changes of the bile ducts.	SNOMEDCT_US:20239009|UMLS:C0267818	hp.json	Proliferation of bile canaliculi	http://purl.obolibrary.org/obo/HP_0001408							
HP:0001409	biolink:PhenotypicFeature	Portal hypertension	Increased pressure in the portal vein.	MSH:D006975|SNOMEDCT_US:34742003|UMLS:C0020541	hp.json		http://purl.obolibrary.org/obo/HP_0001409							
HP:0001410	biolink:PhenotypicFeature	Decreased liver function	Reduced ability of the liver to perform its functions.	MSH:D008107|SNOMEDCT_US:75183008|SNOMEDCT_US:77981007|UMLS:C0086565|UMLS:C0232744|UMLS:C3279149	hp.json	Decreased liver function|Liver dysfunction|Liver dysfunction, mild|Hepatopathy	http://purl.obolibrary.org/obo/HP_0001410							
HP:0001412	biolink:PhenotypicFeature	Enteroviral hepatitis	Inflammation of the liver due to infection with enterovirus.	UMLS:C1843995	hp.json		http://purl.obolibrary.org/obo/HP_0001412							
HP:0001413	biolink:PhenotypicFeature	Micronodular cirrhosis	A type of cirrhosis characterized by the presence of small regenerative nodules.	SNOMEDCT_US:21861000|UMLS:C0267812	hp.json		http://purl.obolibrary.org/obo/HP_0001413							
HP:0001414	biolink:PhenotypicFeature	Microvesicular hepatic steatosis	A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.	UMLS:C1850415	hp.json	Microvesicular steatosis	http://purl.obolibrary.org/obo/HP_0001414							
HP:0001417	biolink:PhenotypicFeature	X-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.	MSH:D050172|SNOMEDCT_US:263934009|UMLS:C0241764	hp.json	X-linked|X-linked form	http://purl.obolibrary.org/obo/HP_0001417							
HP:0001419	biolink:PhenotypicFeature	X-linked recessive inheritance	A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.	UMLS:C1845977	hp.json	X-linked recessive	http://purl.obolibrary.org/obo/HP_0001419							
HP:0001421	biolink:PhenotypicFeature	Abnormality of the musculature of the hand		UMLS:C4025786	hp.json	Abnormal hand muscles	http://purl.obolibrary.org/obo/HP_0001421							
HP:0001423	biolink:PhenotypicFeature	X-linked dominant inheritance	A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.	UMLS:C1847879	hp.json	X-linked dominant	http://purl.obolibrary.org/obo/HP_0001423							
HP:0001425	biolink:PhenotypicFeature	Heterogeneous		MSH:D018740|UMLS:C0242960	hp.json	Genetic heterogeneity|Heterogeneity	http://purl.obolibrary.org/obo/HP_0001425							
HP:0001426	biolink:PhenotypicFeature	Multifactorial inheritance	A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.	MSH:D020412|UMLS:C0600599	hp.json	Familial predisposition	http://purl.obolibrary.org/obo/HP_0001426							
HP:0001427	biolink:PhenotypicFeature	Mitochondrial inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).	MSH:D050259|UMLS:C0887941	hp.json	Mitochondrial	http://purl.obolibrary.org/obo/HP_0001427							
HP:0001428	biolink:PhenotypicFeature	Somatic mutation	A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.	SNOMEDCT_US:124975008|UMLS:C0544886	hp.json		http://purl.obolibrary.org/obo/HP_0001428							
HP:0001430	biolink:PhenotypicFeature	Abnormality of the calf musculature		UMLS:C4021779	hp.json	Abnormal calf muscles|Abnormality of calf musculature	http://purl.obolibrary.org/obo/HP_0001430							
HP:0001433	biolink:PhenotypicFeature	Hepatosplenomegaly	Simultaneous enlargement of the liver and spleen.	SNOMEDCT_US:36760000|UMLS:C0019214	hp.json	Enlarged liver and spleen	http://purl.obolibrary.org/obo/HP_0001433							
HP:0001435	biolink:PhenotypicFeature	Abnormality of the shoulder girdle musculature		UMLS:C4021778	hp.json	Abnormality of shoulder musculature	http://purl.obolibrary.org/obo/HP_0001435							
HP:0001436	biolink:PhenotypicFeature	Abnormality of the foot musculature	An anomaly of the musculature of foot.	UMLS:C4025785	hp.json	Abnormal foot muscles	http://purl.obolibrary.org/obo/HP_0001436							
HP:0001437	biolink:PhenotypicFeature	Abnormality of the musculature of the lower limbs		UMLS:C4025784	hp.json		http://purl.obolibrary.org/obo/HP_0001437							
HP:0001438	biolink:PhenotypicFeature	Abnormal abdomen morphology	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.	UMLS:C4020869	hp.json	Abnormality of abdomen structure|Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen	http://purl.obolibrary.org/obo/HP_0001438							
HP:0001440	biolink:PhenotypicFeature	Metatarsal synostosis		UMLS:C1862697	hp.json	Fusion of the long bones of the feet|Fusion of metatarsals|Synostosis involving metatarsal bones	http://purl.obolibrary.org/obo/HP_0001440							
HP:0001441	biolink:PhenotypicFeature	Abnormality of the musculature of the thigh		UMLS:C4025783	hp.json	Abnormal thigh muscles	http://purl.obolibrary.org/obo/HP_0001441							
HP:0001442	biolink:PhenotypicFeature	Somatic mosaicism	The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.	UMLS:C1866227	hp.json		http://purl.obolibrary.org/obo/HP_0001442							
HP:0001443	biolink:PhenotypicFeature	Abnormality of the gluteal musculature		UMLS:C4025782	hp.json	Abnormality of glutes	http://purl.obolibrary.org/obo/HP_0001443							
HP:0001444	biolink:PhenotypicFeature	Autosomal dominant somatic cell mutation	Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.	UMLS:C4025781	hp.json		http://purl.obolibrary.org/obo/HP_0001444							
HP:0001445	biolink:PhenotypicFeature	Abnormality of the hip-girdle musculature		UMLS:C4025780	hp.json		http://purl.obolibrary.org/obo/HP_0001445							
HP:0001446	biolink:PhenotypicFeature	Abnormality of the musculature of the upper limbs		UMLS:C4025779	hp.json	Abnormal upper limb muscles	http://purl.obolibrary.org/obo/HP_0001446							
HP:0001449	biolink:PhenotypicFeature	Duplication of metatarsal bones		UMLS:C4025778	hp.json	Duplication of long bones of foot	http://purl.obolibrary.org/obo/HP_0001449							
HP:0001450	biolink:PhenotypicFeature	Y-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.	MSH:D050173|UMLS:C0814045	hp.json	Y-linked	http://purl.obolibrary.org/obo/HP_0001450							
HP:0001452	biolink:PhenotypicFeature	Autosomal dominant contiguous gene syndrome		UMLS:C4025777	hp.json		http://purl.obolibrary.org/obo/HP_0001452							
HP:0001454	biolink:PhenotypicFeature	Abnormality of the upper arm		UMLS:C4025776	hp.json		http://purl.obolibrary.org/obo/HP_0001454							
HP:0001457	biolink:PhenotypicFeature	Abnormality of the musculature of the upper arm		UMLS:C4025775	hp.json		http://purl.obolibrary.org/obo/HP_0001457							
HP:0001459	biolink:PhenotypicFeature	1-3 toe syndactyly	Syndactyly with fusion of toes one to three.	UMLS:C4025774	hp.json	Webbed 1st-3rd toes	http://purl.obolibrary.org/obo/HP_0001459							
HP:0001460	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the skeletal musculature	Absence or underdevelopment of the musculature.	UMLS:C4025773	hp.json	Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles	http://purl.obolibrary.org/obo/HP_0001460							
HP:0001464	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the shoulder musculature	Absence or underdevelopment of the muscles of the shoulder.	UMLS:C4025772	hp.json	Absent/small shoulder muscles|Absent/underdeveloped shoulder muscles	http://purl.obolibrary.org/obo/HP_0001464							
HP:0001465	biolink:PhenotypicFeature	Amyotrophy involving the shoulder musculature		UMLS:C4025771	hp.json	Wasting of shoulder muscles|Shoulder muscle degeneration	http://purl.obolibrary.org/obo/HP_0001465							
HP:0001466	biolink:PhenotypicFeature	Contiguous gene syndrome		UMLS:C1855496	hp.json		http://purl.obolibrary.org/obo/HP_0001466							
HP:0001467	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the musculature of the upper limbs	Absence or underdevelopment of the musculature of the upper limbs.	UMLS:C4025770	hp.json	Absent/small upper limb muscles|Absent/underdeveloped upper limb muscles	http://purl.obolibrary.org/obo/HP_0001467							
HP:0001468	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the musculature of the upper arm	Absence or underdevelopment of the muscles of the upper arm.	UMLS:C4025769	hp.json	Absent/small upper arm muscles|Absent/underdeveloped upper arm muscles	http://purl.obolibrary.org/obo/HP_0001468							
HP:0001469	biolink:PhenotypicFeature	Abnormal morphology of the pelvis musculature		UMLS:C4025768	hp.json	Abnormality of the musculature of the pelvis	http://purl.obolibrary.org/obo/HP_0001469							
HP:0001470	biolink:PhenotypicFeature	Sex-limited autosomal dominant		UMLS:C4025767	hp.json		http://purl.obolibrary.org/obo/HP_0001470							
HP:0001471	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the musculature of the pelvis		UMLS:C4025766	hp.json	Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles	http://purl.obolibrary.org/obo/HP_0001471							
HP:0001472	biolink:PhenotypicFeature	obsolete Familial predisposition			hp.json		http://purl.obolibrary.org/obo/HP_0001472							
HP:0001473	biolink:PhenotypicFeature	Metatarsal osteolysis	Osteolysis involving metatarsal bones.	UMLS:C1854614	hp.json	Osteolysis involving metatarsal bones	http://purl.obolibrary.org/obo/HP_0001473							
HP:0001474	biolink:PhenotypicFeature	Sclerotic scapulae	Increased density of the bony tissue of the scapula.	UMLS:C1849263	hp.json		http://purl.obolibrary.org/obo/HP_0001474							hposlim_core
HP:0001475	biolink:PhenotypicFeature	Male-limited autosomal dominant		UMLS:C4025764	hp.json		http://purl.obolibrary.org/obo/HP_0001475							
HP:0001476	biolink:PhenotypicFeature	Delayed closure of the anterior fontanelle	A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.	SNOMEDCT_US:295091000119100|UMLS:C3840083|UMLS:C4072831	hp.json	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							
HP:0001477	biolink:PhenotypicFeature	Compensatory chin elevation	A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.	UMLS:C1846911	hp.json	Compensatory head tilt/chin elevation	http://purl.obolibrary.org/obo/HP_0001477							
HP:0001480	biolink:PhenotypicFeature	Freckling	The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	MSH:D008548|SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|UMLS:C0016689	hp.json	Freckling	http://purl.obolibrary.org/obo/HP_0001480							
HP:0001482	biolink:PhenotypicFeature	Subcutaneous nodule	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.	SNOMEDCT_US:95325000|UMLS:C0151811|UMLS:C0746926	hp.json	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							hposlim_core
HP:0001483	biolink:PhenotypicFeature	Eye poking	Repetitive pressing, poking, and/or rubbing in the eyes.	SNOMEDCT_US:78894008|UMLS:C0233593	hp.json		http://purl.obolibrary.org/obo/HP_0001483							
HP:0001487	biolink:PhenotypicFeature	obsolete Hypopigmented fundi			hp.json		http://purl.obolibrary.org/obo/HP_0001487							
HP:0001488	biolink:PhenotypicFeature	Bilateral ptosis		UMLS:C1865916	hp.json	Drooping of both upper eyelids	http://purl.obolibrary.org/obo/HP_0001488							
HP:0001489	biolink:PhenotypicFeature	Posterior vitreous detachment	Separation of the vitreous humor from the retina.	MSH:D020255|SNOMEDCT_US:247081001|UMLS:C0423361	hp.json	Vitreous detachment	http://purl.obolibrary.org/obo/HP_0001489							
HP:0001491	biolink:PhenotypicFeature	Congenital fibrosis of extraocular muscles	Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.	MSH:C580012|SNOMEDCT_US:400946004|UMLS:C1302995	hp.json	CFEOM|Congenital fibrosis of the extraocular muscles|Congenital ophthalmoplegia	http://purl.obolibrary.org/obo/HP_0001491							hposlim_core
HP:0001492	biolink:PhenotypicFeature	Axenfeld anomaly	Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.	MSH:C535679|SNOMEDCT_US:204152008|UMLS:C0266548	hp.json		http://purl.obolibrary.org/obo/HP_0001492							hposlim_core
HP:0001493	biolink:PhenotypicFeature	Falciform retinal fold	An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.	SNOMEDCT_US:204181009|UMLS:C0344550	hp.json	Congenital retinal fold	http://purl.obolibrary.org/obo/HP_0001493							
HP:0001495	biolink:PhenotypicFeature	Carpal osteolysis	Osteolysis affecting carpal bones.	UMLS:C1833734	hp.json	Carpal bone osteolysis	http://purl.obolibrary.org/obo/HP_0001495							hposlim_core
HP:0001498	biolink:PhenotypicFeature	Carpal bone hypoplasia	Underdevelopment of one or more carpal bones.	UMLS:C1863749|UMLS:C4280594	hp.json	Small wrist bones|Small carpal bones|Small carpals|Hypoplasia of carpal bones|Hypoplastic carpal bones	http://purl.obolibrary.org/obo/HP_0001498							hposlim_core
HP:0001500	biolink:PhenotypicFeature	Broad finger	Increased width of a non-thumb digit of the hand.	UMLS:C1844906	hp.json	Broad finger|Broad fingers|Wide fingers	http://purl.obolibrary.org/obo/HP_0001500							hposlim_core
HP:0001501	biolink:PhenotypicFeature	6 metacarpals		UMLS:C1861360	hp.json	6 long bones of hand	http://purl.obolibrary.org/obo/HP_0001501							
HP:0001504	biolink:PhenotypicFeature	Metacarpal osteolysis		UMLS:C1854610	hp.json	Metacarpals osteolysis	http://purl.obolibrary.org/obo/HP_0001504							
HP:0001507	biolink:PhenotypicFeature	Growth abnormality		UMLS:C0262361	hp.json	Abnormal growth|Growth abnormality|Growth issue	http://purl.obolibrary.org/obo/HP_0001507							
HP:0001508	biolink:PhenotypicFeature	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.	SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246|UMLS:C2315100	hp.json	Undergrowth|Faltering weight|Weight faltering|Poor weight gain|Postnatal failure to thrive	http://purl.obolibrary.org/obo/HP_0001508							
HP:0001510	biolink:PhenotypicFeature	Growth delay	A deficiency or slowing down of growth pre- and postnatally.	SNOMEDCT_US:276617005|SNOMEDCT_US:444896005|SNOMEDCT_US:59576002|UMLS:C0151686|UMLS:C0456070|UMLS:C0878787|UMLS:C1837385|UMLS:C3552463	hp.json	Delayed growth|Growth deficiency|Growth delay|Growth failure|Growth retardation|Poor growth|Retarded growth|Very poor growth	http://purl.obolibrary.org/obo/HP_0001510							
HP:0001511	biolink:PhenotypicFeature	Intrauterine growth retardation	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.	MSH:D005317|MSH:D007236|SNOMEDCT_US:199612005|SNOMEDCT_US:22033007|UMLS:C0015934|UMLS:C0021296|UMLS:C1386048	hp.json	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							
HP:0001513	biolink:PhenotypicFeature	Obesity	Accumulation of substantial excess body fat.	MSH:D009765|SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|UMLS:C0028754	hp.json	Having too much body fat|Obesity	http://purl.obolibrary.org/obo/HP_0001513							
HP:0001518	biolink:PhenotypicFeature	Small for gestational age	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.	MSH:D007230|SNOMEDCT_US:267258002|SNOMEDCT_US:276610007|UMLS:C0024032|UMLS:C0235991	hp.json	Birth weight less than 10th percentile|Low birth weight|Small for gestational age	http://purl.obolibrary.org/obo/HP_0001518							
HP:0001519	biolink:PhenotypicFeature	Disproportionate tall stature	A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.	MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706|UMLS:C1836996	hp.json	Dolichostenomelia|Marfanoid body habitus|Marfanoid habitus|Reduced upper-lower segment ratio	http://purl.obolibrary.org/obo/HP_0001519							
HP:0001520	biolink:PhenotypicFeature	Large for gestational age	The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.	UMLS:C1848395	hp.json	Birth weight > 90th percentile|Birthweight > 90th percentile|Foetal macrosomia|Fetal macrosomia|Macrosomia|Macrosomia, neonatal	http://purl.obolibrary.org/obo/HP_0001520							
HP:0001522	biolink:PhenotypicFeature	Death in infancy	Death within the first 24 months of life.	UMLS:C1844947|UMLS:C1858430	hp.json	Death in infancy|Infantile death|Lethal in infancy|Death in early childhood	http://purl.obolibrary.org/obo/HP_0001522							
HP:0001525	biolink:PhenotypicFeature	Severe failure to thrive		UMLS:C1855514	hp.json	Severe faltering weight|Severe weight faltering|Marked failure to thrive|Severe postnatal failure to thrive	http://purl.obolibrary.org/obo/HP_0001525							
HP:0001528	biolink:PhenotypicFeature	Hemihypertrophy	Overgrowth of only one side of the body.	SNOMEDCT_US:205838004|SNOMEDCT_US:56007004|UMLS:C0332890	hp.json	Asymmetric overgrowth|Asymmetric limb hypertrophy	http://purl.obolibrary.org/obo/HP_0001528							
HP:0001530	biolink:PhenotypicFeature	Mild postnatal growth retardation	A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.	UMLS:C1835580|UMLS:C3550204	hp.json	Mild growth deficiency|Postnatal onset of mild growth retardation	http://purl.obolibrary.org/obo/HP_0001530							
HP:0001531	biolink:PhenotypicFeature	Failure to thrive in infancy		UMLS:C1867873	hp.json	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	biolink:PhenotypicFeature	Slender build	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.	UMLS:C1850573	hp.json	Slender build|Thin build|Asthenic habitus|Thin body habitus	http://purl.obolibrary.org/obo/HP_0001533							
HP:0001537	biolink:PhenotypicFeature	Umbilical hernia	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.	Fyler:4445|SNOMEDCT_US:396347007|UMLS:C0019322	hp.json	Umbilical hernias	http://purl.obolibrary.org/obo/HP_0001537							hposlim_core
HP:0001538	biolink:PhenotypicFeature	Protuberant abdomen	A thrusting or bulging out of the abdomen.	UMLS:C1854928	hp.json	Belly sticks out|Extended belly|Abdominal protuberance	http://purl.obolibrary.org/obo/HP_0001538							
HP:0001539	biolink:PhenotypicFeature	Omphalocele	A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.	Fyler:4404|MEDDRA:10030309|MSH:D006554|SNOMEDCT_US:18735004|UMLS:C0795690	hp.json	Omphalocoele	http://purl.obolibrary.org/obo/HP_0001539							hposlim_core
HP:0001540	biolink:PhenotypicFeature	Diastasis recti	A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).	SNOMEDCT_US:62629000|UMLS:C0221766	hp.json	Gap between large left and right abdominal muscles	http://purl.obolibrary.org/obo/HP_0001540							hposlim_core
HP:0001541	biolink:PhenotypicFeature	Ascites	Accumulation of fluid in the peritoneal cavity.	MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962	hp.json	Accumulation of fluid in the abdomen	http://purl.obolibrary.org/obo/HP_0001541							hposlim_core
HP:0001543	biolink:PhenotypicFeature	Gastroschisis	A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.	MEDDRA:10018046|MSH:D020139|SNOMEDCT_US:72951007|UMLS:C0265706	hp.json		http://purl.obolibrary.org/obo/HP_0001543							hposlim_core
HP:0001544	biolink:PhenotypicFeature	Prominent umbilicus	Abnormally prominent umbilicus (belly button).	UMLS:C1837795	hp.json	Prominent belly button|Prominent navel	http://purl.obolibrary.org/obo/HP_0001544							
HP:0001545	biolink:PhenotypicFeature	Anteriorly placed anus	Anterior malposition of the anus.	UMLS:C1838705	hp.json	Anteriorly displaced anus|Anus anteposition	http://purl.obolibrary.org/obo/HP_0001545							hposlim_core
HP:0001547	biolink:PhenotypicFeature	Abnormal rib cage morphology	A morphological anomaly of the rib cage.	UMLS:C4025763	hp.json	Abnormality of the rib cage	http://purl.obolibrary.org/obo/HP_0001547							
HP:0001548	biolink:PhenotypicFeature	Overgrowth	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.	UMLS:C1849265|UMLS:C1851731|UMLS:C3150281	hp.json	General overgrowth|Generalised overgrowth|Generalized overgrowth	http://purl.obolibrary.org/obo/HP_0001548							
HP:0001549	biolink:PhenotypicFeature	Abnormal ileum morphology		UMLS:C4025762	hp.json	Abnormality of the ileum	http://purl.obolibrary.org/obo/HP_0001549							
HP:0001551	biolink:PhenotypicFeature	Abnormal umbilicus morphology	An abnormality of the structure or appearance of the umbilicus.	UMLS:C1849338	hp.json	Abnormal belly button|Abnormal navel|Abnormal umbilicus	http://purl.obolibrary.org/obo/HP_0001551							
HP:0001552	biolink:PhenotypicFeature	Barrel-shaped chest	A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.	SNOMEDCT_US:24228002|UMLS:C0264172	hp.json	Barrel chest|Barrel-shaped chest	http://purl.obolibrary.org/obo/HP_0001552							hposlim_core
HP:0001555	biolink:PhenotypicFeature	Asymmetry of the thorax	Lack of symmetry between the left and right halves of the thorax.	UMLS:C1858033	hp.json	Asymmetric chest	http://purl.obolibrary.org/obo/HP_0001555							hposlim_core
HP:0001557	biolink:PhenotypicFeature	Prenatal movement abnormality	An abnormality of fetal movement.	UMLS:C1849510	hp.json	Abnormal intrauterine movements	http://purl.obolibrary.org/obo/HP_0001557							
HP:0001558	biolink:PhenotypicFeature	Decreased fetal movement	An abnormal reduction in quantity or strength of fetal movements.	SNOMEDCT_US:276369006|UMLS:C0235659	hp.json	Less than 10 fetal movements in 12 hours|Decreased foetal activity|Decreased foetal movement|Decreased foetal movements|Foetal hypokinesia|Less than 10 foetal movements in 12 hours|Reduced foetal movement|Reduced foetal movements|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							
HP:0001560	biolink:PhenotypicFeature	Abnormality of the amniotic fluid	Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.	SNOMEDCT_US:42170009|UMLS:C0266781	hp.json	Abnormal amniotic fluid	http://purl.obolibrary.org/obo/HP_0001560							
HP:0001561	biolink:PhenotypicFeature	Polyhydramnios	The presence of excess amniotic fluid in the uterus during pregnancy.	MSH:D006831|SNOMEDCT_US:86203003|UMLS:C0020224	hp.json	High levels of amniotic fluid|Hydramnios	http://purl.obolibrary.org/obo/HP_0001561							
HP:0001562	biolink:PhenotypicFeature	Oligohydramnios	Diminished amniotic fluid volume in pregnancy.	MSH:D016104|SNOMEDCT_US:59566000|UMLS:C0079924|UMLS:C3550658	hp.json	Low levels of amniotic fluid|Maternal oligohydramnios	http://purl.obolibrary.org/obo/HP_0001562							
HP:0001563	biolink:PhenotypicFeature	Fetal polyuria	Abnormally increased production of urine by the fetus resulting in polyhydramnios.	UMLS:C1865279	hp.json	Foetal polyuria	http://purl.obolibrary.org/obo/HP_0001563							
HP:0001566	biolink:PhenotypicFeature	Widely-spaced maxillary central incisors	Increased distance between the maxillary central permanent incisor tooth.	UMLS:C1835762|UMLS:C1845110|UMLS:C4280252	hp.json	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							
HP:0001571	biolink:PhenotypicFeature	Multiple impacted teeth	The presence of multiple impacted teeth.	UMLS:C1839965|UMLS:C4280593	hp.json	Multiple buried teeth|Impacted teeth|Multiple impacted teeth|Multiple retained teeth	http://purl.obolibrary.org/obo/HP_0001571							
HP:0001572	biolink:PhenotypicFeature	Macrodontia	Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.	SNOMEDCT_US:71485000|UMLS:C0266036|UMLS:C4280590|UMLS:C4280591|UMLS:C4280592	hp.json	Increased size of tooth|Increased width of tooth|Large tooth|Tooth mass excess|Hyperplasia of tooth|Hypertrophy of tooth|Megalodontia	http://purl.obolibrary.org/obo/HP_0001572							hposlim_core
HP:0001574	biolink:PhenotypicFeature	Abnormality of the integument	An abnormality of the integument, which consists of the skin and the superficial fascia.	UMLS:C4025761	hp.json		http://purl.obolibrary.org/obo/HP_0001574							
HP:0001575	biolink:PhenotypicFeature	obsolete Mood changes			hp.json		http://purl.obolibrary.org/obo/HP_0001575							
HP:0001579	biolink:PhenotypicFeature	Primary hypercortisolism	Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.	UMLS:C1968852|UMLS:C4025760	hp.json	ACTH-independent hypercortisolemia	http://purl.obolibrary.org/obo/HP_0001579							
HP:0001580	biolink:PhenotypicFeature	Pigmented micronodular adrenocortical disease		UMLS:C1968851	hp.json		http://purl.obolibrary.org/obo/HP_0001580							
HP:0001581	biolink:PhenotypicFeature	Recurrent skin infections	Infections of the skin that happen multiple times.	UMLS:C1853193	hp.json	Recurrent skin infections|Skin infections, recurrent|Cutaneous infections	http://purl.obolibrary.org/obo/HP_0001581							
HP:0001582	biolink:PhenotypicFeature	Redundant skin	Loose and sagging skin often associated with loss of skin elasticity.	SNOMEDCT_US:201093004|UMLS:C0581342	hp.json	Loose redundant skin|Redundant skin folds|Sagging, redundant skin	http://purl.obolibrary.org/obo/HP_0001582							
HP:0001583	biolink:PhenotypicFeature	Rotary nystagmus	A form of nystagmus in which the eyeball makes rotary motions around the axis.	MSH:D009759|SNOMEDCT_US:44526006|SNOMEDCT_US:95783006|UMLS:C0240595	hp.json	Rotatory Nystagmus	http://purl.obolibrary.org/obo/HP_0001583							hposlim_core
HP:0001586	biolink:PhenotypicFeature	Vesicovaginal fistula	The presence of a fistula connecting the urinary bladder to the vagina.	MSH:D014719|SNOMEDCT_US:89405008|UMLS:C0042582	hp.json		http://purl.obolibrary.org/obo/HP_0001586							
HP:0001587	biolink:PhenotypicFeature	obsolete Primary ovarian failure			hp.json		http://purl.obolibrary.org/obo/HP_0001587							
HP:0001591	biolink:PhenotypicFeature	Bell-shaped thorax	The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.	UMLS:C1865186	hp.json	Bell-shaped chest|Constricted, bell-shaped thorax|Narrow, bell-shaped thorax	http://purl.obolibrary.org/obo/HP_0001591							hposlim_core
HP:0001592	biolink:PhenotypicFeature	Selective tooth agenesis	Agenesis specifically affecting one of the classes incisor, premolar, or molar.	UMLS:C1970308|UMLS:C4280251	hp.json	Absence of a tooth|Missing a tooth|Agenesis of a tooth|Failure of development of a tooth	http://purl.obolibrary.org/obo/HP_0001592							
HP:0001593	biolink:PhenotypicFeature	Maxillary lateral incisor microdontia	Decreased size of the maxillary permanent incisor.	UMLS:C1845111|UMLS:C4280588|UMLS:C4280589	hp.json	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							
HP:0001595	biolink:PhenotypicFeature	Abnormal hair morphology	An abnormality of the hair.	UMLS:C0157733|UMLS:C2677869	hp.json	Abnormality of the hair|Hair abnormality|Abnormality of the hair shaft	http://purl.obolibrary.org/obo/HP_0001595							hposlim_core
HP:0001596	biolink:PhenotypicFeature	Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.	MEDDRA:10001760|MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170	hp.json	Hair loss	http://purl.obolibrary.org/obo/HP_0001596							hposlim_core
HP:0001597	biolink:PhenotypicFeature	Abnormality of the nail	Abnormality of the nail.	MSH:D009260|MSH:D009264|SNOMEDCT_US:17790008|UMLS:C0027339|UMLS:C0853087	hp.json	Abnormality of the nail|Nail disease	http://purl.obolibrary.org/obo/HP_0001597							
HP:0001598	biolink:PhenotypicFeature	Concave nail	The natural longitudinal (posterodistal) convex arch is not present or is inverted.	SNOMEDCT_US:66270006|UMLS:C0221261	hp.json	Spoon-shaped nails|Koilonychia	http://purl.obolibrary.org/obo/HP_0001598							hposlim_core
HP:0001600	biolink:PhenotypicFeature	Abnormality of the larynx	An abnormality of the larynx.	UMLS:C4021777	hp.json	Laryngeal abnormalities|Laryngeal anomalies	http://purl.obolibrary.org/obo/HP_0001600							
HP:0001601	biolink:PhenotypicFeature	Laryngomalacia	Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.	MSH:D055092|SNOMEDCT_US:38086007|UMLS:C0264303	hp.json	Softening of voice box tissue	http://purl.obolibrary.org/obo/HP_0001601							
HP:0001602	biolink:PhenotypicFeature	Laryngeal stenosis	Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.	MSH:D007829|SNOMEDCT_US:75547007|UMLS:C0023075	hp.json		http://purl.obolibrary.org/obo/HP_0001602							
HP:0001604	biolink:PhenotypicFeature	Vocal cord paresis	Decreased strength of the vocal folds.	MSH:D014826|SNOMEDCT_US:302912005|SNOMEDCT_US:445424004|UMLS:C0751576|UMLS:C1832690|UMLS:C1843187|UMLS:C1853729	hp.json	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							
HP:0001605	biolink:PhenotypicFeature	Vocal cord paralysis	A loss of the ability to move the vocal folds.	MSH:D014826|SNOMEDCT_US:302912005|UMLS:C0042928|UMLS:C1854345	hp.json	Inability to move vocal cords|Laryngeal paralysis	http://purl.obolibrary.org/obo/HP_0001605							
HP:0001606	biolink:PhenotypicFeature	obsolete Vocal cord paralysis (caused by tumor impingement)			hp.json		http://purl.obolibrary.org/obo/HP_0001606							
HP:0001607	biolink:PhenotypicFeature	Subglottic stenosis		SNOMEDCT_US:22668006|UMLS:C0238441	hp.json		http://purl.obolibrary.org/obo/HP_0001607							
HP:0001608	biolink:PhenotypicFeature	Abnormality of the voice		UMLS:C4021776	hp.json	Abnormality of the voice|Voice abnormality	http://purl.obolibrary.org/obo/HP_0001608							
HP:0001609	biolink:PhenotypicFeature	Hoarse voice	Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.	MSH:D006685|SNOMEDCT_US:50219008|UMLS:C0019825|UMLS:C1854348	hp.json	Hoarse voice|Hoarseness|Husky voice	http://purl.obolibrary.org/obo/HP_0001609							
HP:0001611	biolink:PhenotypicFeature	Nasal speech	A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.	SNOMEDCT_US:229645001|SNOMEDCT_US:289190003|UMLS:C0454555|UMLS:C0566620	hp.json	Nasal speech|Nasal voice|Hypernasal speech|Hypernasal voice	http://purl.obolibrary.org/obo/HP_0001611							
HP:0001612	biolink:PhenotypicFeature	Weak cry		SNOMEDCT_US:2120003|UMLS:C0234860	hp.json		http://purl.obolibrary.org/obo/HP_0001612							
HP:0001613	biolink:PhenotypicFeature	obsolete Hoarse voice (caused by tumor impingement)			hp.json		http://purl.obolibrary.org/obo/HP_0001613							
HP:0001615	biolink:PhenotypicFeature	Hoarse cry		UMLS:C2678303	hp.json	Hoarse cry	http://purl.obolibrary.org/obo/HP_0001615							
HP:0001618	biolink:PhenotypicFeature	Dysphonia	An impairment in the ability to produce voice sounds.	MSH:D055154|SNOMEDCT_US:47004009|UMLS:C1527344	hp.json	Inability to produce voice sounds|Voice change	http://purl.obolibrary.org/obo/HP_0001618							
HP:0001620	biolink:PhenotypicFeature	High pitched voice	An abnormal increase in the pitch (frequency) of the voice.	SNOMEDCT_US:51406002|UMLS:C0241703	hp.json	High pitched voice|High-pitched voice	http://purl.obolibrary.org/obo/HP_0001620							
HP:0001621	biolink:PhenotypicFeature	Weak voice	Reduced intensity (volume) of speech.	MSH:D014832|SNOMEDCT_US:34527004|SNOMEDCT_US:8614008|UMLS:C0241700|UMLS:C0521007	hp.json	Soft voice|Weak voice|Hypophonia	http://purl.obolibrary.org/obo/HP_0001621							
HP:0001622	biolink:PhenotypicFeature	Premature birth	The birth of a baby of less than 37 weeks of gestational age.	MSH:D047928|SNOMEDCT_US:282020008|SNOMEDCT_US:367494004|SNOMEDCT_US:49550006|UMLS:C0151526|UMLS:C0233315	hp.json	Premature birth|Premature delivery of affected infants|Preterm delivery|Premature delivery|Shortened gestation time	http://purl.obolibrary.org/obo/HP_0001622							
HP:0001623	biolink:PhenotypicFeature	Breech presentation	A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.	MSH:D001946|SNOMEDCT_US:249101006|SNOMEDCT_US:6096002|UMLS:C0006157	hp.json	Feet or buttocks of fetus positioned near opening of uterus|Feet or buttocks of foetus positioned near opening of uterus|Breech presentation at birth	http://purl.obolibrary.org/obo/HP_0001623							
HP:0001626	biolink:PhenotypicFeature	Abnormality of the cardiovascular system	Any abnormality of the cardiovascular system.	MSH:D002318|MSH:D018376|SNOMEDCT_US:49601007|UMLS:C0007222|UMLS:C0243050	hp.json	Abnormality of the cardiovascular system|Cardiovascular abnormality|Cardiovascular disease	http://purl.obolibrary.org/obo/HP_0001626							
HP:0001627	biolink:PhenotypicFeature	Abnormal heart morphology	Any structural anomaly of the heart.	MSH:D006330|SNOMEDCT_US:13213009|UMLS:C0018798|UMLS:C0152021	hp.json	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							
HP:0001629	biolink:PhenotypicFeature	Ventricular septal defect	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.	Fyler:1300|MSH:D006345|SNOMEDCT_US:253549006|SNOMEDCT_US:30288003|UMLS:C0018818	hp.json	VSD|Hole in heart wall separating two lower heart chambers|Ventricular septal defects|Ventriculoseptal defect	http://purl.obolibrary.org/obo/HP_0001629							
HP:0001631	biolink:PhenotypicFeature	Atrial septal defect	Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.	Fyler:2050|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:253366007|SNOMEDCT_US:405752007|SNOMEDCT_US:70142008|UMLS:C0018817	hp.json	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							
HP:0001633	biolink:PhenotypicFeature	Abnormal mitral valve morphology	Any structural anomaly of the mitral valve.	UMLS:C4025759	hp.json	Abnormality of the mitral valve	http://purl.obolibrary.org/obo/HP_0001633							
HP:0001634	biolink:PhenotypicFeature	Mitral valve prolapse	One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.	Fyler:1533|MSH:D008945|SNOMEDCT_US:409712001|SNOMEDCT_US:8074002|UMLS:C0026267	hp.json		http://purl.obolibrary.org/obo/HP_0001634							
HP:0001635	biolink:PhenotypicFeature	Congestive heart failure	The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.	MSH:D006333|SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|UMLS:C0018801|UMLS:C0018802	hp.json	CHF|Cardiac failure|Cardiac failures|Heart failure|Cardiac insufficiency|Chronic heart failure	http://purl.obolibrary.org/obo/HP_0001635							
HP:0001636	biolink:PhenotypicFeature	Tetralogy of Fallot	A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.	ICD-10:Q21.3|MSH:D013771|SNOMEDCT_US:86299006|UMLS:C0039685	hp.json	Tetrology of fallot	http://purl.obolibrary.org/obo/HP_0001636							
HP:0001637	biolink:PhenotypicFeature	Abnormal myocardium morphology	A structural anomaly of the muscle layer of the heart wall.	UMLS:C4025758	hp.json	Abnormality of the myocardium	http://purl.obolibrary.org/obo/HP_0001637							
HP:0001638	biolink:PhenotypicFeature	Cardiomyopathy	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.	Fyler:1840|MSH:D009202|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001|UMLS:C0878544	hp.json	Disease of the heart muscle	http://purl.obolibrary.org/obo/HP_0001638							
HP:0001639	biolink:PhenotypicFeature	Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.	MSH:D002312|SNOMEDCT_US:233873004|SNOMEDCT_US:45227007|UMLS:C0007194	hp.json	HCM|Enlarged and thickened heart muscle|Cardiomyopathy, hypertrophic	http://purl.obolibrary.org/obo/HP_0001639							
HP:0001640	biolink:PhenotypicFeature	Cardiomegaly	Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.	MSH:D006332|SNOMEDCT_US:8186001|UMLS:C0018800	hp.json	Enlarged heart|Increased heart size	http://purl.obolibrary.org/obo/HP_0001640							
HP:0001641	biolink:PhenotypicFeature	Abnormal pulmonary valve morphology	Any structural abnormality of the pulmonary valve.	Fyler:1600|Fyler:1602|SNOMEDCT_US:448643005|UMLS:C3164374	hp.json	Abnormality of the pulmonary valve|Anomaly of the pulmonary valve	http://purl.obolibrary.org/obo/HP_0001641							
HP:0001642	biolink:PhenotypicFeature	Pulmonic stenosis	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).	Fyler:1611|MSH:D011666|SNOMEDCT_US:56786000|UMLS:C1956257	hp.json	Narrowing of pulmonic valve|Pulmonary stenosis|Pulmonary valve stenosis|Pulmonic valve stenosis	http://purl.obolibrary.org/obo/HP_0001642							
HP:0001643	biolink:PhenotypicFeature	Patent ductus arteriosus	In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.	Fyler:2100|MSH:D004374|SNOMEDCT_US:83330001|UMLS:C0013274	hp.json	PDA|Ductus arteriosus|Persistent arterial duct|Persistent ductus arteriosus	http://purl.obolibrary.org/obo/HP_0001643							
HP:0001644	biolink:PhenotypicFeature	Dilated cardiomyopathy	Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.	Fyler:1843|MSH:D002311|SNOMEDCT_US:195021004|SNOMEDCT_US:399020009|UMLS:C0007193	hp.json	DCM|Stretched and thinned heart muscle|Cardiomyopathy, dilated|Congestive cardiomyopathy	http://purl.obolibrary.org/obo/HP_0001644							
HP:0001645	biolink:PhenotypicFeature	Sudden cardiac death	The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).	MSH:D016757|SNOMEDCT_US:95281009|UMLS:C0085298	hp.json	Premature sudden cardiac death|Sudden cardiac death	http://purl.obolibrary.org/obo/HP_0001645							
HP:0001646	biolink:PhenotypicFeature	Abnormal aortic valve morphology	Any abnormality of the aortic valve.	Fyler:1400|Fyler:1408|SNOMEDCT_US:448743001|UMLS:C3164445	hp.json	Abnormality of the aortic valve	http://purl.obolibrary.org/obo/HP_0001646							
HP:0001647	biolink:PhenotypicFeature	Bicuspid aortic valve	The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).	MSH:C562388|SNOMEDCT_US:72352009|UMLS:C0149630	hp.json	Aortic valve has two leaflets rather than three	http://purl.obolibrary.org/obo/HP_0001647							
HP:0001648	biolink:PhenotypicFeature	Cor pulmonale	Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.	MSH:D011660|SNOMEDCT_US:274096000|SNOMEDCT_US:83291003|UMLS:C0034072	hp.json		http://purl.obolibrary.org/obo/HP_0001648							
HP:0001649	biolink:PhenotypicFeature	Tachycardia	A rapid heartrate that exceeds the range of the normal resting heartrate for age.	MSH:D013610|SNOMEDCT_US:3424008|SNOMEDCT_US:86651002|UMLS:C0039231|UMLS:C4020868	hp.json	Fast heart rate|Heart racing|Racing heart|Elevated heart rate|Increased heart rate|Rapid heart beat	http://purl.obolibrary.org/obo/HP_0001649							
HP:0001650	biolink:PhenotypicFeature	Aortic valve stenosis	The presence of a stenosis (narrowing) of the aortic valve.	Fyler:1411|MSH:D001024|SNOMEDCT_US:60573004|UMLS:C0003507	hp.json	Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis	http://purl.obolibrary.org/obo/HP_0001650							
HP:0001651	biolink:PhenotypicFeature	Dextrocardia	The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.	EPCC:02.01.02|Fyler:0110|Fyler:110|ICD-10:Q24.0|MSH:D003914|SNOMEDCT_US:27637000|UMLS:C0011813	hp.json	Heart tip and four chambers point towards right side of body|Thoracic situs inversus	http://purl.obolibrary.org/obo/HP_0001651							
HP:0001653	biolink:PhenotypicFeature	Mitral regurgitation	An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.	Fyler:1151|MSH:D008944|SNOMEDCT_US:48724000|UMLS:C0026266|UMLS:C3551535	hp.json	Mitral incompetence|Mitral insufficiency|Mitral valve insufficiency|Mitral valve regurgitation|Mitral regurgitation, mild	http://purl.obolibrary.org/obo/HP_0001653							
HP:0001654	biolink:PhenotypicFeature	Abnormal heart valve morphology	Any structural abnormality of a cardiac valve.	MSH:D006349|SNOMEDCT_US:368009|UMLS:C0018824|UMLS:C0241654	hp.json	Abnormality of the heart valves|Valvular abnormality|Valvular heart disease	http://purl.obolibrary.org/obo/HP_0001654							
HP:0001655	biolink:PhenotypicFeature	Patent foramen ovale	Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.	Fyler:2020|ICD-10:Q21.1|MSH:D054092|SNOMEDCT_US:204317008|UMLS:C0016522	hp.json	Persistent foramen ovale	http://purl.obolibrary.org/obo/HP_0001655							
HP:0001657	biolink:PhenotypicFeature	Prolonged QT interval	Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	SNOMEDCT_US:111975006|UMLS:C0151878	hp.json	Long QT syndrome|Prolong qt interval on ekg|Long Q-T syndrome	http://purl.obolibrary.org/obo/HP_0001657							
HP:0001658	biolink:PhenotypicFeature	Myocardial infarction	Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.	MSH:D009203|SNOMEDCT_US:22298006|UMLS:C0027051	hp.json	MI|Heart attack	http://purl.obolibrary.org/obo/HP_0001658							
HP:0001659	biolink:PhenotypicFeature	Aortic regurgitation	An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.	MSH:D001022|SNOMEDCT_US:60234000|UMLS:C0003504	hp.json	Aortic insufficiency|Aortic valve regurgitation	http://purl.obolibrary.org/obo/HP_0001659							
HP:0001660	biolink:PhenotypicFeature	Truncus arteriosus	A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.	Fyler:0500|Fyler:500|ICD-10:Q20.0|MSH:D014338|SNOMEDCT_US:58140002|UMLS:C0041206|UMLS:C4020867	hp.json	Common arterial trunk|Persistant truncus arteriosus	http://purl.obolibrary.org/obo/HP_0001660							
HP:0001662	biolink:PhenotypicFeature	Bradycardia	A slower than normal heart rate (in adults, slower than 60 beats per minute).	MSH:D001919|SNOMEDCT_US:48867003|UMLS:C0428977	hp.json	Slow heartbeats|Brachycardia	http://purl.obolibrary.org/obo/HP_0001662							
HP:0001663	biolink:PhenotypicFeature	Ventricular fibrillation	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.	MSH:D014693|SNOMEDCT_US:71908006|UMLS:C0042510	hp.json		http://purl.obolibrary.org/obo/HP_0001663							
HP:0001664	biolink:PhenotypicFeature	Torsade de pointes	A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.	MSH:D016171|SNOMEDCT_US:31722008|UMLS:C0040479	hp.json	Torsades de pointes	http://purl.obolibrary.org/obo/HP_0001664							
HP:0001667	biolink:PhenotypicFeature	Right ventricular hypertrophy	In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.	Fyler:3609|MSH:D017380|SNOMEDCT_US:89792004|UMLS:C0162770	hp.json	Heart right ventricle hypertrophy	http://purl.obolibrary.org/obo/HP_0001667							
HP:0001669	biolink:PhenotypicFeature	Transposition of the great arteries	A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.	SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741	hp.json	Transposition of great vessels	http://purl.obolibrary.org/obo/HP_0001669							
HP:0001670	biolink:PhenotypicFeature	Asymmetric septal hypertrophy	Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.	UMLS:C0205700	hp.json		http://purl.obolibrary.org/obo/HP_0001670							
HP:0001671	biolink:PhenotypicFeature	Abnormal cardiac septum morphology	An anomaly of the intra-atrial or intraventricular septum.	MSH:D006343|SNOMEDCT_US:253273004|SNOMEDCT_US:396351009|SNOMEDCT_US:59494005|UMLS:C0018816	hp.json	Septal defects|Abnormality of the cardiac septa|Heart septal defect	http://purl.obolibrary.org/obo/HP_0001671							
HP:0001673	biolink:PhenotypicFeature	obsolete Tachycardia (with pheochromocytoma)			hp.json		http://purl.obolibrary.org/obo/HP_0001673							
HP:0001674	biolink:PhenotypicFeature	Complete atrioventricular canal defect	A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.	Fyler:1120	hp.json	Atrioventricular canal|Common atrioventricular canal|Complete atrioventricular septal defect|Complete common AV canal	http://purl.obolibrary.org/obo/HP_0001674							
HP:0001675	biolink:PhenotypicFeature	obsolete Rhythm disturbances associated with pheochromocytoma			hp.json		http://purl.obolibrary.org/obo/HP_0001675							
HP:0001676	biolink:PhenotypicFeature	obsolete Palpitations (with pheochromocytoma)			hp.json		http://purl.obolibrary.org/obo/HP_0001676							
HP:0001677	biolink:PhenotypicFeature	Coronary artery atherosclerosis	Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.	MSH:D003324|SNOMEDCT_US:414024009|SNOMEDCT_US:53741008|UMLS:C1956346	hp.json	Plaque build-up in arteries supplying blood to heart|Coronary atherosclerosis|Coronary disease	http://purl.obolibrary.org/obo/HP_0001677							
HP:0001678	biolink:PhenotypicFeature	Atrioventricular block	Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.	MSH:D054537|SNOMEDCT_US:233917008|UMLS:C0004245|UMLS:C1841659	hp.json	Interruption of electrical communication between upper and lower chambers of heart|Atrioventricular nodal disease	http://purl.obolibrary.org/obo/HP_0001678							
HP:0001679	biolink:PhenotypicFeature	Abnormal aortic morphology	An abnormality of the aorta.	Fyler:1453|UMLS:C4025756	hp.json	Abnormal aorta morphology|Abnormality of the aorta	http://purl.obolibrary.org/obo/HP_0001679							
HP:0001680	biolink:PhenotypicFeature	Coarctation of aorta	Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.	MSH:D001017|SNOMEDCT_US:7305005|UMLS:C0003492	hp.json	Narrowing of aorta|Narrowing of the aorta|Aortic coarctation|Coarctation of the aorta	http://purl.obolibrary.org/obo/HP_0001680							
HP:0001681	biolink:PhenotypicFeature	Angina pectoris	Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.	MSH:D000787|SNOMEDCT_US:194828000|SNOMEDCT_US:225566008|UMLS:C0002962	hp.json		http://purl.obolibrary.org/obo/HP_0001681							
HP:0001682	biolink:PhenotypicFeature	Subvalvular aortic stenosis	A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.	MSH:D001020|SNOMEDCT_US:204368006|UMLS:C0340375	hp.json	Narrowing of blood vessel below aortic heart valve|Subaortic stenosis	http://purl.obolibrary.org/obo/HP_0001682							
HP:0001683	biolink:PhenotypicFeature	Ectopia cordis	Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.	Fyler:0170|Fyler:170|MSH:D054083|SNOMEDCT_US:78250005|UMLS:C0013580	hp.json		http://purl.obolibrary.org/obo/HP_0001683							
HP:0001684	biolink:PhenotypicFeature	Secundum atrial septal defect	A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.	Fyler:2000|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:204315000|UMLS:C0344724	hp.json	Atrial septal defect, ostium secundum type|Ostium secundum atrial septal defect|Patent ostium secundum	http://purl.obolibrary.org/obo/HP_0001684							
HP:0001685	biolink:PhenotypicFeature	Myocardial fibrosis	Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.	UMLS:C0151654	hp.json		http://purl.obolibrary.org/obo/HP_0001685							
HP:0001686	biolink:PhenotypicFeature	Loss of voice		MSH:D001044|SNOMEDCT_US:441913003|SNOMEDCT_US:44564008|UMLS:C0003564	hp.json	Aphonia	http://purl.obolibrary.org/obo/HP_0001686							
HP:0001688	biolink:PhenotypicFeature	Sinus bradycardia	Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.	Fyler:7013|SNOMEDCT_US:49710005|UMLS:C0085610	hp.json		http://purl.obolibrary.org/obo/HP_0001688							
HP:0001691	biolink:PhenotypicFeature	Muscular subvalvular aortic stenosis	A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.	UMLS:C3887554	hp.json	Muscular subaortic stenosis	http://purl.obolibrary.org/obo/HP_0001691							
HP:0001692	biolink:PhenotypicFeature	Atrial arrhythmia	A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.	SNOMEDCT_US:17366009|UMLS:C0085611|UMLS:C4025755	hp.json	Primary atrial arrhythmia	http://purl.obolibrary.org/obo/HP_0001692							
HP:0001693	biolink:PhenotypicFeature	Cardiac shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.	SNOMEDCT_US:442119001|UMLS:C0232180	hp.json		http://purl.obolibrary.org/obo/HP_0001693							
HP:0001694	biolink:PhenotypicFeature	Right-to-left shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.	SNOMEDCT_US:79692001|UMLS:C0428871	hp.json		http://purl.obolibrary.org/obo/HP_0001694							
HP:0001695	biolink:PhenotypicFeature	Cardiac arrest	An abrupt loss of heart function.	MSH:D006323|SNOMEDCT_US:397829000|SNOMEDCT_US:410429000|UMLS:C0018790	hp.json	Heart stops beating	http://purl.obolibrary.org/obo/HP_0001695							
HP:0001696	biolink:PhenotypicFeature	Situs inversus totalis	A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.	Fyler:0100|Fyler:100|MSH:D012857|MSH:D059446|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|SNOMEDCT_US:27317008|SNOMEDCT_US:43876007|UMLS:C0037221|UMLS:C0266642	hp.json	All organs on wrong side of body|situs oppositus|situs transversus|Situs inversus	http://purl.obolibrary.org/obo/HP_0001696							
HP:0001697	biolink:PhenotypicFeature	Abnormal pericardium morphology	An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.	Fyler:1900|UMLS:C4025754	hp.json	Abnormality of the pericardium	http://purl.obolibrary.org/obo/HP_0001697							
HP:0001698	biolink:PhenotypicFeature	Pericardial effusion	Accumulation of fluid within the pericardium.	Fyler:1940|MSH:D010490|SNOMEDCT_US:373945007|UMLS:C0031039	hp.json	Fluid around heart|Pericardial effusions	http://purl.obolibrary.org/obo/HP_0001698							
HP:0001699	biolink:PhenotypicFeature	Sudden death	Rapid and unexpected death.	MSH:D003645|SNOMEDCT_US:26636000|UMLS:C0011071	hp.json		http://purl.obolibrary.org/obo/HP_0001699							
HP:0001700	biolink:PhenotypicFeature	Myocardial necrosis	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).	SNOMEDCT_US:251061000|UMLS:C1442837	hp.json		http://purl.obolibrary.org/obo/HP_0001700							
HP:0001701	biolink:PhenotypicFeature	Pericarditis	Inflammation of the sac-like covering around the heart (pericardium).	MSH:D010493|SNOMEDCT_US:3238004|UMLS:C0031046	hp.json	Swelling or irritation of membrane around heart	http://purl.obolibrary.org/obo/HP_0001701							
HP:0001702	biolink:PhenotypicFeature	Abnormal tricuspid valve morphology	Any structural anomaly of the tricuspid valve.	EPCC:06.01.00|UMLS:C4025753	hp.json	Abnormality of the tricuspid valve	http://purl.obolibrary.org/obo/HP_0001702							
HP:0001704	biolink:PhenotypicFeature	Tricuspid valve prolapse	One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.	Fyler:1733|MSH:D014263|SNOMEDCT_US:253383003|UMLS:C0040962	hp.json		http://purl.obolibrary.org/obo/HP_0001704							
HP:0001705	biolink:PhenotypicFeature	Right ventricular outlet tract obstruction	An obstruction to the forward flow of blood in the outflow tract of the right ventricle.	MSH:D014694|UMLS:C0035619	hp.json	Right ventricular outlet obstruction	http://purl.obolibrary.org/obo/HP_0001705							
HP:0001706	biolink:PhenotypicFeature	Endocardial fibroelastosis	Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction	MSH:D004695|SNOMEDCT_US:65457005|UMLS:C0014117	hp.json		http://purl.obolibrary.org/obo/HP_0001706							
HP:0001707	biolink:PhenotypicFeature	Abnormal right ventricle morphology	An abnormality of the right ventricle of the heart.	Fyler:1820|SNOMEDCT_US:253516002|UMLS:C0344887	hp.json	Abnormality of the right ventricle|Right ventricular abnormality	http://purl.obolibrary.org/obo/HP_0001707							
HP:0001708	biolink:PhenotypicFeature	Right ventricular failure	Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.	MSH:D006333|SNOMEDCT_US:128404006|SNOMEDCT_US:367363000|UMLS:C0235527|UMLS:C2939447	hp.json	Impaired right ventricular function|Right ventricular impairment|Right-sided heart failure	http://purl.obolibrary.org/obo/HP_0001708							
HP:0001709	biolink:PhenotypicFeature	Third degree atrioventricular block	Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.	SNOMEDCT_US:27885002|UMLS:C0151517	hp.json	Complete heart block|Third-degree heart block	http://purl.obolibrary.org/obo/HP_0001709							
HP:0001710	biolink:PhenotypicFeature	Conotruncal defect	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.	UMLS:C1853238	hp.json	Conotruncal heart defects	http://purl.obolibrary.org/obo/HP_0001710							
HP:0001711	biolink:PhenotypicFeature	Abnormal left ventricle morphology	Any structural abnormality of the left ventricle of the heart.	Fyler:1810|SNOMEDCT_US:253535002|UMLS:C0344905	hp.json	Abnormal heart left ventricle morphology|Abnormality of the left ventricle|Left ventricular abnormality	http://purl.obolibrary.org/obo/HP_0001711							
HP:0001712	biolink:PhenotypicFeature	Left ventricular hypertrophy	Enlargement or increased size of the heart left ventricle.	Fyler:3608|MSH:D017379|SNOMEDCT_US:55827005|UMLS:C0149721	hp.json	Heart left ventricle hypertrophy|Left ventricular wall hypertrophy	http://purl.obolibrary.org/obo/HP_0001712							
HP:0001713	biolink:PhenotypicFeature	Abnormal cardiac ventricle morphology	An abnormality of a cardiac ventricle.	UMLS:C4025752	hp.json	Abnormality of cardiac ventricle	http://purl.obolibrary.org/obo/HP_0001713							
HP:0001714	biolink:PhenotypicFeature	Ventricular hypertrophy	Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.	SNOMEDCT_US:266249003|UMLS:C0340279	hp.json		http://purl.obolibrary.org/obo/HP_0001714							
HP:0001716	biolink:PhenotypicFeature	Wolff-Parkinson-White syndrome	A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.	MSH:D014927|SNOMEDCT_US:74390002|UMLS:C0043202	hp.json		http://purl.obolibrary.org/obo/HP_0001716							
HP:0001717	biolink:PhenotypicFeature	Coronary artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.	SNOMEDCT_US:445512009|UMLS:C1611184	hp.json		http://purl.obolibrary.org/obo/HP_0001717							
HP:0001718	biolink:PhenotypicFeature	Mitral stenosis	An abnormal narrowing of the orifice of the mitral valve.	EPCC:06.02.92|Fyler:1511|ICD-10:Q23.2|MSH:D008946|SNOMEDCT_US:79619009|UMLS:C0026269	hp.json	Mitral valve stenosis	http://purl.obolibrary.org/obo/HP_0001718							
HP:0001719	biolink:PhenotypicFeature	Double outlet right ventricle	Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.	Fyler:600|Fyler:606|MSH:D004310|SNOMEDCT_US:7484005|UMLS:C0013069	hp.json	DORV|Double-outlet right ventricle	http://purl.obolibrary.org/obo/HP_0001719							
HP:0001722	biolink:PhenotypicFeature	High-output congestive heart failure	A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.	UMLS:C0742747	hp.json		http://purl.obolibrary.org/obo/HP_0001722							
HP:0001723	biolink:PhenotypicFeature	Restrictive cardiomyopathy	Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.	MSH:D002313|SNOMEDCT_US:415295002|SNOMEDCT_US:90828009|UMLS:C0007196	hp.json		http://purl.obolibrary.org/obo/HP_0001723							
HP:0001724	biolink:PhenotypicFeature	obsolete Aortic dilatation			hp.json		http://purl.obolibrary.org/obo/HP_0001724							
HP:0001726	biolink:PhenotypicFeature	obsolete Increased prevalence of valvular disease			hp.json		http://purl.obolibrary.org/obo/HP_0001726							
HP:0001727	biolink:PhenotypicFeature	Thromboembolic stroke	A cerebrovascular accident (stroke) that occurs because of thromboembolism.	UMLS:C1112433	hp.json		http://purl.obolibrary.org/obo/HP_0001727							
HP:0001730	biolink:PhenotypicFeature	Progressive hearing impairment	A progressive form of hearing impairment.	UMLS:C1842138	hp.json	Progressive hearing loss	http://purl.obolibrary.org/obo/HP_0001730							
HP:0001732	biolink:PhenotypicFeature	Abnormality of the pancreas	An abnormality of the pancreas.	MSH:D010182|SNOMEDCT_US:3855007|UMLS:C0030286|UMLS:C4025751	hp.json	Abnormality of the pancreas|Pancreatic disease	http://purl.obolibrary.org/obo/HP_0001732							
HP:0001733	biolink:PhenotypicFeature	Pancreatitis	The presence of inflammation in the pancreas.	MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305	hp.json	Pancreatic inflammation	http://purl.obolibrary.org/obo/HP_0001733							
HP:0001734	biolink:PhenotypicFeature	Annular pancreas	A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.	MSH:C536376|SNOMEDCT_US:40315008|UMLS:C0149955	hp.json		http://purl.obolibrary.org/obo/HP_0001734							
HP:0001735	biolink:PhenotypicFeature	Acute pancreatitis	A acute form of pancreatitis.	SNOMEDCT_US:197456007|UMLS:C0001339	hp.json	Acute pancreatic inflammation|Pancreatitis, acute	http://purl.obolibrary.org/obo/HP_0001735							
HP:0001737	biolink:PhenotypicFeature	Pancreatic cysts	A cyst of the pancreas that possess a lining of mucous epithelium.	MSH:D010181|SNOMEDCT_US:31258000|UMLS:C0030283|UMLS:C1860394	hp.json	Pancreatic cysts|Multiple pancreatic cysts|Pancreatic cyst	http://purl.obolibrary.org/obo/HP_0001737							
HP:0001738	biolink:PhenotypicFeature	Exocrine pancreatic insufficiency	Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.	MSH:D010188|SNOMEDCT_US:37992001|SNOMEDCT_US:47367009|UMLS:C0030293|UMLS:C0267963	hp.json	Inability to properly digest food due to lack of pancreatic digestive enzymes|Pancreatic insufficiency	http://purl.obolibrary.org/obo/HP_0001738							
HP:0001739	biolink:PhenotypicFeature	Abnormal nasopharynx morphology	A structural anomaly of the nasopharynx.	UMLS:C4025750	hp.json	Abnormality of the nasopharynx	http://purl.obolibrary.org/obo/HP_0001739							
HP:0001741	biolink:PhenotypicFeature	Phimosis	The male foreskin cannot be fully retracted from the head of the penis.	SNOMEDCT_US:253854008|UMLS:C0345326	hp.json		http://purl.obolibrary.org/obo/HP_0001741							
HP:0001742	biolink:PhenotypicFeature	Nasal congestion	Reduced ability to pass air through the nasal cavity often leading to mouth breathing.	MSH:D015508|SNOMEDCT_US:232209000|SNOMEDCT_US:267100006|SNOMEDCT_US:68235000|UMLS:C0027424|UMLS:C0027429	hp.json	Blockage of nose|Nasal blockage|Nasal obstruction|Obstruction of nose|Stuffy nose|Congestion of nose	http://purl.obolibrary.org/obo/HP_0001742							
HP:0001743	biolink:PhenotypicFeature	Abnormality of the spleen	An abnormality of the spleen.	UMLS:C4025749	hp.json	Abnormality of the spleen	http://purl.obolibrary.org/obo/HP_0001743							
HP:0001744	biolink:PhenotypicFeature	Splenomegaly	Abnormal increased size of the spleen.	MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002	hp.json	Increased spleen size	http://purl.obolibrary.org/obo/HP_0001744							
HP:0001746	biolink:PhenotypicFeature	Asplenia	Absence (aplasia) of the spleen.	Fyler:4771|SNOMEDCT_US:702624008|SNOMEDCT_US:707147002|SNOMEDCT_US:93030006|UMLS:C0600031	hp.json	Absent spleen	http://purl.obolibrary.org/obo/HP_0001746							
HP:0001747	biolink:PhenotypicFeature	Accessory spleen	An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.	Fyler:4772|SNOMEDCT_US:10362008|UMLS:C0266631	hp.json		http://purl.obolibrary.org/obo/HP_0001747							
HP:0001748	biolink:PhenotypicFeature	Polysplenia	Polysplenia is a congenital disease manifested by multiple small accessory spleens.	UMLS:C1856659	hp.json	Multiple small spleens|Accessory spleens|Multiple accessory spleens	http://purl.obolibrary.org/obo/HP_0001748							
HP:0001750	biolink:PhenotypicFeature	Single ventricle	The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.	Fyler:0200|Fyler:200|SNOMEDCT_US:45503006|UMLS:C0152424	hp.json	Common ventricle	http://purl.obolibrary.org/obo/HP_0001750							
HP:0001751	biolink:PhenotypicFeature	Vestibular dysfunction	An abnormality of the functioning of the vestibular apparatus.	UMLS:C1843865	hp.json	Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect	http://purl.obolibrary.org/obo/HP_0001751							
HP:0001756	biolink:PhenotypicFeature	Vestibular hypofunction	Reduced functioning of the vestibular apparatus.	UMLS:C1848606	hp.json		http://purl.obolibrary.org/obo/HP_0001756							
HP:0001757	biolink:PhenotypicFeature	High-frequency sensorineural hearing impairment	A form of sensorineural hearing impairment that affects primarily the higher frequencies.	UMLS:C4021775	hp.json	High frequency sensorineural hearing impairment|High-tone sensorineural deafness|High-tone sensorineural hearing impairment	http://purl.obolibrary.org/obo/HP_0001757							
HP:0001760	biolink:PhenotypicFeature	Abnormal foot morphology	An abnormality of the skeleton of foot.	MSH:D005530|SNOMEDCT_US:229844004|UMLS:C0016506	hp.json	Abnormal feet structure|Abnormality of the feet|Abnormality of the foot|Foot deformities|Foot deformity	http://purl.obolibrary.org/obo/HP_0001760							
HP:0001761	biolink:PhenotypicFeature	Pes cavus	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.	MEDDRA:10034743|SNOMEDCT_US:205091006|UMLS:C0728829	hp.json	High-arched foot	http://purl.obolibrary.org/obo/HP_0001761							hposlim_core
HP:0001762	biolink:PhenotypicFeature	Talipes equinovarus	Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.	Fyler:4171|MEDDRA:10043106|MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081	hp.json	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							hposlim_core
HP:0001763	biolink:PhenotypicFeature	Pes planus	A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.	MSH:D005413|SNOMEDCT_US:203534009|SNOMEDCT_US:53226007|UMLS:C0016202|UMLS:C0264133	hp.json	Flat feet|Flat foot|Dropped arches|Fallen arches	http://purl.obolibrary.org/obo/HP_0001763							hposlim_core
HP:0001765	biolink:PhenotypicFeature	Hammertoe	Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.	MSH:D037801|SNOMEDCT_US:122481008|UMLS:C1136179	hp.json	Hammer toe|Hammertoe|Hammertoes	http://purl.obolibrary.org/obo/HP_0001765							hposlim_core
HP:0001769	biolink:PhenotypicFeature	Broad foot	A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.	UMLS:C1866241	hp.json	Broad feet|Broad foot|Wide foot	http://purl.obolibrary.org/obo/HP_0001769							hposlim_core
HP:0001770	biolink:PhenotypicFeature	Toe syndactyly	Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".	SNOMEDCT_US:32113001|UMLS:C0265660	hp.json	Fused toes|Webbed toes|Foot syndactyly|Syndactyly of feet|Syndactyly of toes	http://purl.obolibrary.org/obo/HP_0001770							
HP:0001771	biolink:PhenotypicFeature	Achilles tendon contracture	A contracture of the Achilles tendon.	SNOMEDCT_US:203076007|UMLS:C0410264	hp.json	Shortening of the achilles tendon|Tight achilles tendon|Achilles tendon contractures|Contractures of the Achilles tendon	http://purl.obolibrary.org/obo/HP_0001771							
HP:0001772	biolink:PhenotypicFeature	Talipes equinovalgus	A deformity of foot and ankle in which the foot is bent down and outwards.	MSH:D004863|SNOMEDCT_US:68284008|UMLS:C0265642|UMLS:C4020866	hp.json	Equinovalgus deformity	http://purl.obolibrary.org/obo/HP_0001772							
HP:0001773	biolink:PhenotypicFeature	Short foot	A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).	UMLS:C1848673	hp.json	Short feet|Short foot|Small feet|Hypoplastic feet	http://purl.obolibrary.org/obo/HP_0001773							
HP:0001775	biolink:PhenotypicFeature	Tarsal osteovalgus		UMLS:C4025748	hp.json		http://purl.obolibrary.org/obo/HP_0001775							
HP:0001776	biolink:PhenotypicFeature	Bilateral talipes equinovarus	Bilateral clubfoot deformity (see HP:0001762).	UMLS:C1837835	hp.json	Club foot on both sides|Bilateral clubfeet|Bilateral clubfoot	http://purl.obolibrary.org/obo/HP_0001776							
HP:0001780	biolink:PhenotypicFeature	Abnormality of toe	An anomaly of a toe.	UMLS:C2674738	hp.json	Abnormalities of the toes|Abnormality of toe	http://purl.obolibrary.org/obo/HP_0001780							hposlim_core
HP:0001782	biolink:PhenotypicFeature	Bulbous tips of toes	An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.	UMLS:C4025747	hp.json		http://purl.obolibrary.org/obo/HP_0001782							
HP:0001783	biolink:PhenotypicFeature	Broad metatarsal	Increased side-to-side width of a metatarsal bone.	UMLS:C1842231|UMLS:C1850161	hp.json	Wide long bone of foot|Broad metatarsals|Widened metatarsal shaft	http://purl.obolibrary.org/obo/HP_0001783							
HP:0001785	biolink:PhenotypicFeature	Ankle swelling		SNOMEDCT_US:26237000|SNOMEDCT_US:267039000|UMLS:C0235439	hp.json	Ankle swelling	http://purl.obolibrary.org/obo/HP_0001785							
HP:0001786	biolink:PhenotypicFeature	Narrow foot	A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.	SNOMEDCT_US:299464006|UMLS:C0576227	hp.json	Narrow foot|Slender feet	http://purl.obolibrary.org/obo/HP_0001786							hposlim_core
HP:0001787	biolink:PhenotypicFeature	Abnormal delivery	An abnormality of the birth process.	SNOMEDCT_US:274127000|UMLS:C0549629	hp.json	Abnormal delivery|Delivery complication	http://purl.obolibrary.org/obo/HP_0001787							
HP:0001788	biolink:PhenotypicFeature	Premature rupture of membranes	Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.	MSH:D005322|SNOMEDCT_US:237266003|SNOMEDCT_US:44223004|UMLS:C0015944	hp.json		http://purl.obolibrary.org/obo/HP_0001788							
HP:0001789	biolink:PhenotypicFeature	Hydrops fetalis	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.	MSH:D015160|SNOMEDCT_US:276508000|UMLS:C0020305	hp.json		http://purl.obolibrary.org/obo/HP_0001789							
HP:0001790	biolink:PhenotypicFeature	Nonimmune hydrops fetalis	A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .	MSH:D015160|SNOMEDCT_US:206538000|SNOMEDCT_US:276509008|UMLS:C0455988	hp.json	Non-immune foetal hydrops|Hydrops fetalis, non-immune|Hydrops fetalis, nonimmune|Non-immune fetal hydrops|Nonimmune hydrops	http://purl.obolibrary.org/obo/HP_0001790							
HP:0001791	biolink:PhenotypicFeature	Fetal ascites	Accumulation of fluid in the peritoneal cavity during the fetal period.	SNOMEDCT_US:363125002|UMLS:C1285291	hp.json	Foetal ascites	http://purl.obolibrary.org/obo/HP_0001791							
HP:0001792	biolink:PhenotypicFeature	Small nail	A nail that is diminished in length and width, i.e., underdeveloped nail.	SNOMEDCT_US:11375002|UMLS:C0263523	hp.json	Small nail|Small nails|Hypoplastic nail|Hypoplastic nails|Nail hypoplasia	http://purl.obolibrary.org/obo/HP_0001792							
HP:0001795	biolink:PhenotypicFeature	Hyperconvex nail	When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.	SNOMEDCT_US:247487009|UMLS:C0423807	hp.json	Increased nail curvature|Nail overcurvature	http://purl.obolibrary.org/obo/HP_0001795							hposlim_core
HP:0001798	biolink:PhenotypicFeature	Anonychia	Aplasia of the nail.	MSH:C536377|SNOMEDCT_US:23610003|UMLS:C0265998	hp.json	Absent nails|Aplastic nails	http://purl.obolibrary.org/obo/HP_0001798							hposlim_core
HP:0001799	biolink:PhenotypicFeature	Short nail	Decreased length of nail.	SNOMEDCT_US:247488004|UMLS:C0423808	hp.json	Short nail|Short nails	http://purl.obolibrary.org/obo/HP_0001799							hposlim_core
HP:0001800	biolink:PhenotypicFeature	Hypoplastic toenails	Underdevelopment of the toenail.	UMLS:C1837279	hp.json	Underdeveloped toenails	http://purl.obolibrary.org/obo/HP_0001800							
HP:0001802	biolink:PhenotypicFeature	Absent toenail	Congenital absence of the toenail.	UMLS:C1844555	hp.json	Absent toenail|Absent toenails|Absent toenails (anonychia)|Anonychia of toenails	http://purl.obolibrary.org/obo/HP_0001802							hposlim_core
HP:0001803	biolink:PhenotypicFeature	Nail pits	Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.	MEDDRA:10028702|SNOMEDCT_US:89704006|UMLS:C0150993	hp.json	Nail pits|Nail pitting|Pitted nails	http://purl.obolibrary.org/obo/HP_0001803							secondary_consequence
HP:0001804	biolink:PhenotypicFeature	Hypoplastic fingernail	Underdevelopment of a fingernail.	UMLS:C1856786	hp.json	Small fingernail|Underdeveloped fingernail	http://purl.obolibrary.org/obo/HP_0001804							
HP:0001805	biolink:PhenotypicFeature	Onychogryposis	Nail that appears thick when viewed on end.	SNOMEDCT_US:52897009|UMLS:C0263537	hp.json	Thick nail|Thickened nails|Dystrophic thickened nails	http://purl.obolibrary.org/obo/HP_0001805							
HP:0001806	biolink:PhenotypicFeature	Onycholysis	Detachment of the nail from the nail bed.	MEDDRA:10030337|MSH:D054039|SNOMEDCT_US:75789001|UMLS:C0085661	hp.json	Detachment of nail|Oncholysis	http://purl.obolibrary.org/obo/HP_0001806							hposlim_core
HP:0001807	biolink:PhenotypicFeature	Ridged nail	Longitudinal, linear prominences in the nail plate.	SNOMEDCT_US:271768001|UMLS:C0423820	hp.json	Grooved nails|Nail ridging|Ridged nails|Longitudinal ridging	http://purl.obolibrary.org/obo/HP_0001807							hposlim_core
HP:0001808	biolink:PhenotypicFeature	Fragile nails	Nails that easily break.	UMLS:C1856963	hp.json	Brittle nails	http://purl.obolibrary.org/obo/HP_0001808							
HP:0001809	biolink:PhenotypicFeature	Split nail	A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.	SNOMEDCT_US:85136002|UMLS:C0263530	hp.json	Longitudinal splitting of nail	http://purl.obolibrary.org/obo/HP_0001809							
HP:0001810	biolink:PhenotypicFeature	Dystrophic toenail	Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.	UMLS:C1833225	hp.json	Poor toenail formation|Dystrophic toenail changes|Dystrophic toenails	http://purl.obolibrary.org/obo/HP_0001810							
HP:0001812	biolink:PhenotypicFeature	Hyperconvex fingernails	When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.	UMLS:C1844825	hp.json	Tubular fingernails	http://purl.obolibrary.org/obo/HP_0001812							
HP:0001814	biolink:PhenotypicFeature	Deep-set nails	Deeply placed nails.	UMLS:C3277753	hp.json	Deep-set nails	http://purl.obolibrary.org/obo/HP_0001814							
HP:0001816	biolink:PhenotypicFeature	Thin nail	Nail that appears thin when viewed on end.	SNOMEDCT_US:63829008|UMLS:C0423823	hp.json	Thin nail|Thin nails	http://purl.obolibrary.org/obo/HP_0001816							hposlim_core
HP:0001817	biolink:PhenotypicFeature	Absent fingernail	Absence of a fingernail.	UMLS:C1844554	hp.json	Absent fingernail|Aplasia of the fingernail|Anonychia of fingernails	http://purl.obolibrary.org/obo/HP_0001817							hposlim_core
HP:0001818	biolink:PhenotypicFeature	Paronychia	The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).	MEDDRA:10034016|MSH:D010304|SNOMEDCT_US:71906005|UMLS:C0030578	hp.json		http://purl.obolibrary.org/obo/HP_0001818							hposlim_core
HP:0001820	biolink:PhenotypicFeature	Leukonychia	White discoloration of the nails.	MEDDRA:10050658|SNOMEDCT_US:111202002|UMLS:C0240182	hp.json	White discoloration of nails	http://purl.obolibrary.org/obo/HP_0001820							
HP:0001821	biolink:PhenotypicFeature	Broad nail	Increased width of nail.	UMLS:C1843112	hp.json	Broad fingernails|Broad nail|Wide fingernails	http://purl.obolibrary.org/obo/HP_0001821							
HP:0001822	biolink:PhenotypicFeature	Hallux valgus	Lateral deviation of the great toe (i.e., in the direction of the little toe).	MSH:D000071378|MSH:D006215|SNOMEDCT_US:122480009|SNOMEDCT_US:415692008|UMLS:C0006386|UMLS:C0018536	hp.json	Bunion|Lateral deviation of great toe|Lateral deviation of halluces	http://purl.obolibrary.org/obo/HP_0001822							
HP:0001824	biolink:PhenotypicFeature	Weight loss	Reduction of total body weight.	MSH:D015431|SNOMEDCT_US:161832001|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|UMLS:C1262477	hp.json	Loss of weight	http://purl.obolibrary.org/obo/HP_0001824							
HP:0001827	biolink:PhenotypicFeature	Genital tract atresia	Congenital occlusion of a tube in the genital tract.	UMLS:C4025746	hp.json		http://purl.obolibrary.org/obo/HP_0001827							
HP:0001829	biolink:PhenotypicFeature	Foot polydactyly	A kind of polydactyly characterized by the presence of a supernumerary toe or toes.	SNOMEDCT_US:62218008|UMLS:C0158734	hp.json	Duplication of bones of the toes|Polydactyly of feet|Polydactyly of the foot	http://purl.obolibrary.org/obo/HP_0001829							hposlim_core
HP:0001830	biolink:PhenotypicFeature	Postaxial foot polydactyly	Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.	UMLS:C2112129|UMLS:C4020865	hp.json	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							
HP:0001831	biolink:PhenotypicFeature	Short toe	A toe that appears disproportionately short compared to the foot.	UMLS:C1836195	hp.json	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							hposlim_core
HP:0001832	biolink:PhenotypicFeature	Abnormal metatarsal morphology	Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).	UMLS:C4025745	hp.json	Abnormality of the long bone of foot	http://purl.obolibrary.org/obo/HP_0001832							
HP:0001833	biolink:PhenotypicFeature	Long foot	Increased back to front length of the foot.	SNOMEDCT_US:299462005|UMLS:C0576225	hp.json	Disproportionately large feet|Long foot|large feet|long feet	http://purl.obolibrary.org/obo/HP_0001833							hposlim_core
HP:0001836	biolink:PhenotypicFeature	Camptodactyly of toe	Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.	UMLS:C4021774	hp.json	Camptodactyly of feet	http://purl.obolibrary.org/obo/HP_0001836							
HP:0001837	biolink:PhenotypicFeature	Broad toe	Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.	UMLS:C1865038	hp.json	Broad toe|Wide toe	http://purl.obolibrary.org/obo/HP_0001837							hposlim_core
HP:0001838	biolink:PhenotypicFeature	Rocker bottom foot	The presence of both a prominent heel and a convex contour of the sole.	MEDDRA:10066242|MSH:C536345|MSH:D005413|SNOMEDCT_US:205082007|SNOMEDCT_US:205359003|UMLS:C0240912	hp.json	Rocker bottom feet|Rocker bottom foot|Rocker-bottom feet|Rockerbottom feet|Congenital vertical talus	http://purl.obolibrary.org/obo/HP_0001838							hposlim_core
HP:0001839	biolink:PhenotypicFeature	Split foot	A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.	SNOMEDCT_US:205358006|UMLS:C0432028	hp.json	Lobster-claw foot deformity|Split foot|Split-foot|Foot ectrodactyly	http://purl.obolibrary.org/obo/HP_0001839							hposlim_core
HP:0001840	biolink:PhenotypicFeature	Metatarsus adductus	The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.	MSH:D000070592|SNOMEDCT_US:77599005|UMLS:C0231791|UMLS:C4082169	hp.json	Front half of foot turns inward|Forefoot varus|Metatarsus adductovarsus|Metatarsus varus|Intoe	http://purl.obolibrary.org/obo/HP_0001840							hposlim_core
HP:0001841	biolink:PhenotypicFeature	Preaxial foot polydactyly	Duplication of all or part of the first ray.	MSH:C566632|UMLS:C1866339|UMLS:C2112942	hp.json	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							
HP:0001842	biolink:PhenotypicFeature	Foot acroosteolysis		UMLS:C4025744	hp.json	Acroosteolysis of feet	http://purl.obolibrary.org/obo/HP_0001842							
HP:0001844	biolink:PhenotypicFeature	Abnormality of the hallux	This term applies for all abnormalities of the big toe, also called hallux.	UMLS:C4021773	hp.json	Abnormality of the big toe|Abnormalities of the hallux	http://purl.obolibrary.org/obo/HP_0001844							hposlim_core
HP:0001845	biolink:PhenotypicFeature	Overlapping toe	Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.	SNOMEDCT_US:203541003|UMLS:C0920299	hp.json	Overlapping toe|Overlapping toes|Overriding toes|Crossover toe	http://purl.obolibrary.org/obo/HP_0001845							hposlim_core
HP:0001847	biolink:PhenotypicFeature	Long hallux	Increased length of the big toe.	UMLS:C1864375	hp.json	Long big toe|Increased length of the hallux|Large halluces|Long halluces	http://purl.obolibrary.org/obo/HP_0001847							hposlim_core
HP:0001848	biolink:PhenotypicFeature	Calcaneovalgus deformity	This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).	UMLS:C1860450	hp.json	Foot and ankle bend up toward shin of leg|Calcaneovalgus|Calcaneovalgus Foot|Valgus position of the calcaneus	http://purl.obolibrary.org/obo/HP_0001848							
HP:0001849	biolink:PhenotypicFeature	Foot oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of toes.	SNOMEDCT_US:249820005|UMLS:C0426934	hp.json	Missing toes|Oligodactyly of feet	http://purl.obolibrary.org/obo/HP_0001849							hposlim_core
HP:0001850	biolink:PhenotypicFeature	Abnormality of the tarsal bones	An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.	UMLS:C1862136	hp.json	Abnormal ankle bones|Abnormal tarsals	http://purl.obolibrary.org/obo/HP_0001850							
HP:0001852	biolink:PhenotypicFeature	Sandal gap	A widely spaced gap between the first toe (the great toe) and the second toe.	UMLS:C1840069	hp.json	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							hposlim_core
HP:0001853	biolink:PhenotypicFeature	Bifid distal phalanx of toe		UMLS:C4021772	hp.json	Notched outermost bones of toes|Bifid distal phalanges of toes|Bifid terminal phalanx of toe	http://purl.obolibrary.org/obo/HP_0001853							
HP:0001854	biolink:PhenotypicFeature	Podagra	Gout affecting the Metatarsophalangeal joint of big toe.	SNOMEDCT_US:67148009|UMLS:C0221168	hp.json	Gout of big toe	http://purl.obolibrary.org/obo/HP_0001854							
HP:0001857	biolink:PhenotypicFeature	Short distal phalanx of toe	Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.	UMLS:C4021771	hp.json	Short outermost bone of toe|Hypoplastic distal phalanges of feet	http://purl.obolibrary.org/obo/HP_0001857							
HP:0001859	biolink:PhenotypicFeature	Distal foot symphalangism		UMLS:C4025743	hp.json		http://purl.obolibrary.org/obo/HP_0001859							
HP:0001862	biolink:PhenotypicFeature	obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)			hp.json		http://purl.obolibrary.org/obo/HP_0001862							
HP:0001863	biolink:PhenotypicFeature	Toe clinodactyly	Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).	UMLS:C4021770|UMLS:C4280587	hp.json	Toe curvature|Clinodactyly of feet	http://purl.obolibrary.org/obo/HP_0001863							
HP:0001864	biolink:PhenotypicFeature	Clinodactyly of the 5th toe	Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).	UMLS:C4025741|UMLS:C4280586	hp.json	Curvature of the little toe|Curvature of the pinkie toe|Curvature of the pinky toe	http://purl.obolibrary.org/obo/HP_0001864							
HP:0001868	biolink:PhenotypicFeature	Autoamputation of foot	Spontaneous detachment of a foot from the body.	UMLS:C4025740	hp.json		http://purl.obolibrary.org/obo/HP_0001868							
HP:0001869	biolink:PhenotypicFeature	Deep plantar creases	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.	UMLS:C1857953	hp.json	Deep wrinkles in soles of feet	http://purl.obolibrary.org/obo/HP_0001869							
HP:0001870	biolink:PhenotypicFeature	Acroosteolysis of distal phalanges (feet)		UMLS:C4025739	hp.json	Acroosteolysis of distal phalanges of feet	http://purl.obolibrary.org/obo/HP_0001870							
HP:0001871	biolink:PhenotypicFeature	Abnormality of blood and blood-forming tissues	An abnormality of the hematopoietic system.	MSH:D006402|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|UMLS:C4020864	hp.json	Abnormality of blood and blood-forming tissues|Abnormality of the haematopoietic system|Haematological abnormality|Abnormality of the hematopoietic system|Hematological abnormality|Hematologic disease	http://purl.obolibrary.org/obo/HP_0001871							
HP:0001872	biolink:PhenotypicFeature	Abnormal thrombocyte morphology	An abnormality of platelets.	MSH:D013915|SNOMEDCT_US:127566005|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C0151854|UMLS:C4020863	hp.json	Platelet abnormalities|Blood platelet disease|Thrombasthenia	http://purl.obolibrary.org/obo/HP_0001872							
HP:0001873	biolink:PhenotypicFeature	Thrombocytopenia	A reduction in the number of circulating thrombocytes.	MSH:D013921|SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|UMLS:C0040034|UMLS:C0392386	hp.json	Low platelet count	http://purl.obolibrary.org/obo/HP_0001873							
HP:0001874	biolink:PhenotypicFeature	Abnormality of neutrophils	A neutrophil abnormality.	SNOMEDCT_US:250274006|UMLS:C0427515	hp.json	Abnormality of neutrophils|Abnormality of neutrophil|Abnormality of polymorphonuclear neutrophils	http://purl.obolibrary.org/obo/HP_0001874							
HP:0001875	biolink:PhenotypicFeature	Neutropenia	An abnormally low number of neutrophils in the peripheral blood.	SNOMEDCT_US:165517008|UMLS:C0853697	hp.json	Low blood neutrophil count|Low neutrophil count|Neutropoenia|Peripheral neutropenia	http://purl.obolibrary.org/obo/HP_0001875							
HP:0001876	biolink:PhenotypicFeature	Pancytopenia	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).	MSH:D010198|SNOMEDCT_US:127034005|UMLS:C0030312	hp.json	Low blood cell count	http://purl.obolibrary.org/obo/HP_0001876							
HP:0001877	biolink:PhenotypicFeature	Abnormal erythrocyte morphology	Any structural abnormality of erythrocytes (red-blood cells).	SNOMEDCT_US:12222001|UMLS:C0391870|UMLS:C4020862	hp.json	Abnormality of erythrocytes|Abnormality of red blood cells|Abnormality of erythroid lineage cell	http://purl.obolibrary.org/obo/HP_0001877							
HP:0001878	biolink:PhenotypicFeature	Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).	MSH:D000743|SNOMEDCT_US:61261009|UMLS:C0002878	hp.json	Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis	http://purl.obolibrary.org/obo/HP_0001878							
HP:0001879	biolink:PhenotypicFeature	Abnormal eosinophil morphology	An abnormal count or structure of eosinophils.	UMLS:C4025738	hp.json	Abnormality of eosinophils	http://purl.obolibrary.org/obo/HP_0001879							
HP:0001880	biolink:PhenotypicFeature	Eosinophilia	Increased count of eosinophils in the blood.	MSH:D004802|UMLS:C0014457	hp.json	High blood eosinophil count	http://purl.obolibrary.org/obo/HP_0001880							
HP:0001881	biolink:PhenotypicFeature	Abnormal leukocyte morphology	An abnormality of leukocytes.	SNOMEDCT_US:134199001|SNOMEDCT_US:24827003|UMLS:C0152009	hp.json	Abnormality of leukocytes	http://purl.obolibrary.org/obo/HP_0001881							
HP:0001882	biolink:PhenotypicFeature	Leukopenia	An abnormal decreased number of leukocytes in the blood.	MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530	hp.json	Decreased blood leukocyte number|Low white blood cell count	http://purl.obolibrary.org/obo/HP_0001882							
HP:0001883	biolink:PhenotypicFeature	Talipes	A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.	MSH:D000070558|SNOMEDCT_US:398309008|UMLS:C1301937|UMLS:C3552713	hp.json	Talipes foot deformities	http://purl.obolibrary.org/obo/HP_0001883							
HP:0001884	biolink:PhenotypicFeature	Talipes calcaneovalgus	Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.	MSH:D005413|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003|UMLS:C0152237	hp.json	Pes calcaneovarus	http://purl.obolibrary.org/obo/HP_0001884							
HP:0001885	biolink:PhenotypicFeature	Short 2nd toe	Underdevelopment (hypoplasia) of the second toe.	UMLS:C4021769	hp.json	Short second toe	http://purl.obolibrary.org/obo/HP_0001885							
HP:0001886	biolink:PhenotypicFeature	Foot osteomyelitis	An infection of bone of the foot.	UMLS:C4025737	hp.json	Foot bone infection	http://purl.obolibrary.org/obo/HP_0001886							
HP:0001888	biolink:PhenotypicFeature	Lymphopenia	A reduced number of lymphocytes in the blood.	MSH:D008231|SNOMEDCT_US:48813009|UMLS:C0024312	hp.json	Decreased blood lymphocyte number|Low lymphocyte number|Absolute lymphocyte count decrease|Lymphocytopenia	http://purl.obolibrary.org/obo/HP_0001888							
HP:0001889	biolink:PhenotypicFeature	Megaloblastic anemia	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).	MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888	hp.json	Megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0001889							
HP:0001890	biolink:PhenotypicFeature	Autoimmune hemolytic anemia	An autoimmune form of hemolytic anemia.	MSH:D000744|SNOMEDCT_US:413603009|UMLS:C0002880	hp.json	Autoimmune hemolytic anaemia|Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune	http://purl.obolibrary.org/obo/HP_0001890							
HP:0001891	biolink:PhenotypicFeature	Iron deficiency anemia		MSH:D018798|SNOMEDCT_US:87522002|UMLS:C0162316	hp.json	Iron deficiency anaemia|Iron-deficiency anaemia|Ferropenic|Iron-deficiency anemia	http://purl.obolibrary.org/obo/HP_0001891							
HP:0001892	biolink:PhenotypicFeature	Abnormal bleeding	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.	SNOMEDCT_US:248250000|SNOMEDCT_US:64779008|UMLS:C1458140	hp.json	Bleeding tendency|Bleeding diathesis|Hemorrhagic diathesis	http://purl.obolibrary.org/obo/HP_0001892							
HP:0001894	biolink:PhenotypicFeature	Thrombocytosis	Increased numbers of platelets in the peripheral blood.	MSH:D013922|SNOMEDCT_US:415115007|SNOMEDCT_US:6631009|UMLS:C0836924|UMLS:C0857460	hp.json	Increased number of platelets in blood|Increased platelet count|Thrombocythaemia|Thrombocythemia	http://purl.obolibrary.org/obo/HP_0001894							
HP:0001895	biolink:PhenotypicFeature	Normochromic anemia		UMLS:C0235983	hp.json	Normochromic anaemia	http://purl.obolibrary.org/obo/HP_0001895							
HP:0001896	biolink:PhenotypicFeature	Reticulocytopenia	A reduced number of reticulocytes in the peripheral blood.	SNOMEDCT_US:124961001|UMLS:C0858867	hp.json		http://purl.obolibrary.org/obo/HP_0001896							
HP:0001897	biolink:PhenotypicFeature	Normocytic anemia	A kind of anemia in which the volume of the red blood cells is normal.	SNOMEDCT_US:300980002|UMLS:C0085577	hp.json	Normocytic anaemia	http://purl.obolibrary.org/obo/HP_0001897							
HP:0001898	biolink:PhenotypicFeature	Increased red blood cell mass	The presence of an increased mass of red blood cells in the circulation.	UMLS:C1853288	hp.json	Increased RBC mass	http://purl.obolibrary.org/obo/HP_0001898							
HP:0001899	biolink:PhenotypicFeature	Increased hematocrit	An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.	UMLS:C0239935	hp.json	Increased Hct	http://purl.obolibrary.org/obo/HP_0001899							
HP:0001900	biolink:PhenotypicFeature	Increased hemoglobin		SNOMEDCT_US:131141003|UMLS:C0549448	hp.json	Increased Hb|Increased haemoglobin	http://purl.obolibrary.org/obo/HP_0001900							
HP:0001901	biolink:PhenotypicFeature	Polycythemia	Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.	MSH:D011086|SNOMEDCT_US:109992005|SNOMEDCT_US:127062003|UMLS:C0032461|UMLS:C1527405	hp.json	Increased red blood cells|Abnormally shaped erythrocytes|Erythrocytosis|Polyglobulia	http://purl.obolibrary.org/obo/HP_0001901							
HP:0001902	biolink:PhenotypicFeature	Giant platelets	Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).	SNOMEDCT_US:44687006|UMLS:C0333864	hp.json		http://purl.obolibrary.org/obo/HP_0001902							
HP:0001903	biolink:PhenotypicFeature	Anemia	A reduction in erythrocytes volume or hemoglobin concentration.	MSH:D000740|SNOMEDCT_US:165397008|SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119	hp.json	Low number of red blood cells or hemoglobin|Low number of red blood cells or haemoglobin|Decreased haemoglobin|Anaemia|Decreased hemoglobin	http://purl.obolibrary.org/obo/HP_0001903							
HP:0001904	biolink:PhenotypicFeature	Neutropenia in presence of anti-neutropil antibodies	A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.	SNOMEDCT_US:234425008|UMLS:C0340971	hp.json	Autoimmune neutropenia	http://purl.obolibrary.org/obo/HP_0001904							
HP:0001905	biolink:PhenotypicFeature	Congenital thrombocytopenia	Thrombocytopenia with congenital onset.	UMLS:C0272278	hp.json	thrombocytopenia, congenital	http://purl.obolibrary.org/obo/HP_0001905							
HP:0001907	biolink:PhenotypicFeature	Thromboembolism	The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.	MSH:D013923|MSH:D016769|SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|UMLS:C0040038|UMLS:C0085307	hp.json	Blood clot in blood vessel|Thromboembolic disease|Thromboembolic events|Embolism and thrombosis	http://purl.obolibrary.org/obo/HP_0001907							
HP:0001908	biolink:PhenotypicFeature	Hypoplastic anemia	Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.	MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416	hp.json	Hypoplastic anaemia	http://purl.obolibrary.org/obo/HP_0001908							
HP:0001909	biolink:PhenotypicFeature	Leukemia	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.	MSH:D007938|MSH:D019337|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|SNOMEDCT_US:87163000|SNOMEDCT_US:93143009|UMLS:C0023418|UMLS:C0376545	hp.json	Blood cancer|Leukaemia	http://purl.obolibrary.org/obo/HP_0001909							
HP:0001911	biolink:PhenotypicFeature	Abnormal granulocyte morphology	Any structural abnormality or abnormal count of granulocytes.	SNOMEDCT_US:250274006|UMLS:C0427515	hp.json	Abnormality of granulocytes	http://purl.obolibrary.org/obo/HP_0001911							
HP:0001912	biolink:PhenotypicFeature	Abnormal basophil morphology	Any structural abnormality or abnormal count of basophils.	UMLS:C4025736	hp.json	Abnormality of basophils	http://purl.obolibrary.org/obo/HP_0001912							
HP:0001913	biolink:PhenotypicFeature	Granulocytopenia	An abnormally reduced number of granulocytes in the blood.	MSH:D000380|SNOMEDCT_US:17182001|SNOMEDCT_US:417672002|UMLS:C0001824	hp.json		http://purl.obolibrary.org/obo/HP_0001913							
HP:0001915	biolink:PhenotypicFeature	Aplastic anemia	Aplastic anemia is defined as pancytopenia with a hypocellular marrow.	MSH:D000741|SNOMEDCT_US:304132006|SNOMEDCT_US:306058006|UMLS:C0002874	hp.json	Aplastic anaemia	http://purl.obolibrary.org/obo/HP_0001915							
HP:0001917	biolink:PhenotypicFeature	Renal amyloidosis	A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).	SNOMEDCT_US:48713002|UMLS:C0268382	hp.json		http://purl.obolibrary.org/obo/HP_0001917							
HP:0001919	biolink:PhenotypicFeature	Acute kidney injury	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).	MSH:D058186|SNOMEDCT_US:14350001000004108|SNOMEDCT_US:14669001|UMLS:C0022660|UMLS:C2609414	hp.json	Acute kidney failure|Acute renal failure	http://purl.obolibrary.org/obo/HP_0001919							
HP:0001920	biolink:PhenotypicFeature	Renal artery stenosis	The presence of stenosis of the renal artery.	Fyler:2634|MSH:D012078|SNOMEDCT_US:282664001|SNOMEDCT_US:302233006|UMLS:C0035067	hp.json	Narrowing of kidney artery	http://purl.obolibrary.org/obo/HP_0001920							
HP:0001922	biolink:PhenotypicFeature	Vacuolated lymphocytes	The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.	UMLS:C1836855	hp.json	Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes	http://purl.obolibrary.org/obo/HP_0001922							
HP:0001923	biolink:PhenotypicFeature	Reticulocytosis	An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.	MSH:D045262|SNOMEDCT_US:46049004|UMLS:C0206160	hp.json	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							
HP:0001924	biolink:PhenotypicFeature	Sideroblastic anemia	Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896	hp.json	Hypersideremic anaemia|Sideroblastic anaemia|Hypersideremic anemia	http://purl.obolibrary.org/obo/HP_0001924							
HP:0001927	biolink:PhenotypicFeature	Acanthocytosis	Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.	SNOMEDCT_US:250249008|UMLS:C0687751	hp.json	Acanthocytes|Red cell acanthocytosis	http://purl.obolibrary.org/obo/HP_0001927							hposlim_core
HP:0001928	biolink:PhenotypicFeature	Abnormality of coagulation	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.	MSH:D001778|MSH:D006474|SNOMEDCT_US:362970003|SNOMEDCT_US:64779008|UMLS:C0005779|UMLS:C0019087|UMLS:C1846821	hp.json	Abnormal blood coagulation studies|Coagulation abnormalities|Coagulation abnormality|Haemorrhagic disorders|Blood coagulation disorder	http://purl.obolibrary.org/obo/HP_0001928							
HP:0001929	biolink:PhenotypicFeature	Reduced factor XI activity	Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.	MSH:D005173|SNOMEDCT_US:49762007|UMLS:C0015523	hp.json	Low factor XI activity|Factor XI deficiency	http://purl.obolibrary.org/obo/HP_0001929							
HP:0001930	biolink:PhenotypicFeature	Nonspherocytic hemolytic anemia		UMLS:C4025735	hp.json	Nonspherocytic hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0001930							
HP:0001931	biolink:PhenotypicFeature	Hypochromic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.	MSH:D000747|SNOMEDCT_US:44452003|UMLS:C0002884	hp.json	Hypochromic anaemia	http://purl.obolibrary.org/obo/HP_0001931							
HP:0001933	biolink:PhenotypicFeature	Subcutaneous hemorrhage	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).	UMLS:C0854107	hp.json	Bleeding below the skin|Subcutaneous haemorrhage	http://purl.obolibrary.org/obo/HP_0001933							
HP:0001934	biolink:PhenotypicFeature	Persistent bleeding after trauma		UMLS:C1844374	hp.json	Excessive bleeding after minor trauma|Frequent bleeding with trauma|Prolonged bleeding after minor trauma	http://purl.obolibrary.org/obo/HP_0001934							
HP:0001935	biolink:PhenotypicFeature	Microcytic anemia	A kind of anemia in which the volume of the red blood cells is reduced.	MSH:C562385|SNOMEDCT_US:234349007|UMLS:C0085576	hp.json	Microcytic anaemia	http://purl.obolibrary.org/obo/HP_0001935							
HP:0001937	biolink:PhenotypicFeature	Microangiopathic hemolytic anemia		MSH:D000743|SNOMEDCT_US:51071000|UMLS:C0221021	hp.json	Microangiopathic hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0001937							
HP:0001939	biolink:PhenotypicFeature	Abnormality of metabolism/homeostasis		UMLS:C4021768	hp.json	Laboratory abnormality|Metabolism abnormality	http://purl.obolibrary.org/obo/HP_0001939							
HP:0001941	biolink:PhenotypicFeature	Acidosis	Abnormal acid accumulation or depletion of base.	MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122	hp.json		http://purl.obolibrary.org/obo/HP_0001941							
HP:0001942	biolink:PhenotypicFeature	Metabolic acidosis	Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.	MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981	hp.json		http://purl.obolibrary.org/obo/HP_0001942							
HP:0001943	biolink:PhenotypicFeature	Hypoglycemia	A decreased concentration of glucose in the blood.	MSH:D007003|SNOMEDCT_US:237630007|SNOMEDCT_US:271327008|SNOMEDCT_US:302866003|UMLS:C0020615	hp.json	Low blood sugar|Hypoglycaemia	http://purl.obolibrary.org/obo/HP_0001943							
HP:0001944	biolink:PhenotypicFeature	Dehydration		MSH:D003681|SNOMEDCT_US:34095006|UMLS:C0011175	hp.json	Dehydration|Exsiccosis	http://purl.obolibrary.org/obo/HP_0001944							
HP:0001945	biolink:PhenotypicFeature	Fever	Body temperature elevated above the normal range.	MSH:D005334|SNOMEDCT_US:386661006|SNOMEDCT_US:50177009|UMLS:C0015967	hp.json	Fever|Hyperthermia|Pyrexia	http://purl.obolibrary.org/obo/HP_0001945							
HP:0001946	biolink:PhenotypicFeature	Ketosis	Presence of elevated levels of ketone bodies in the body.	MSH:D007662|SNOMEDCT_US:213281004|SNOMEDCT_US:2538008|UMLS:C0022638|UMLS:C0235430	hp.json	High levels of ketone bodies|Hyperketosis	http://purl.obolibrary.org/obo/HP_0001946							
HP:0001947	biolink:PhenotypicFeature	Renal tubular acidosis	Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.	MSH:D000141|SNOMEDCT_US:1776003|UMLS:C0001126	hp.json	Accumulation of acid in body due to kidney problem	http://purl.obolibrary.org/obo/HP_0001947							
HP:0001948	biolink:PhenotypicFeature	Alkalosis	Depletion of acid or accumulation base in the body fluids.	MSH:D000471|SNOMEDCT_US:21420006|UMLS:C0002063	hp.json		http://purl.obolibrary.org/obo/HP_0001948							
HP:0001949	biolink:PhenotypicFeature	Hypokalemic alkalosis		SNOMEDCT_US:22774003|UMLS:C0085570	hp.json		http://purl.obolibrary.org/obo/HP_0001949							
HP:0001950	biolink:PhenotypicFeature	Respiratory alkalosis	Alkalosis due to excess loss of carbon dioxide from the body.	MSH:D000472|SNOMEDCT_US:111378004|UMLS:C0002064	hp.json		http://purl.obolibrary.org/obo/HP_0001950							
HP:0001951	biolink:PhenotypicFeature	Episodic ammonia intoxication		UMLS:C1839541	hp.json		http://purl.obolibrary.org/obo/HP_0001951							
HP:0001952	biolink:PhenotypicFeature	Glucose intolerance	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).	UMLS:C0235401	hp.json	Glucose intolerance|Abnormal glucose tolerance	http://purl.obolibrary.org/obo/HP_0001952							
HP:0001953	biolink:PhenotypicFeature	Diabetic ketoacidosis	A type of diabetic metabolic abnormality with an accumulation of ketone bodies.	MSH:D016883|SNOMEDCT_US:420422005|UMLS:C0011880	hp.json	Diabetic ketosis	http://purl.obolibrary.org/obo/HP_0001953							
HP:0001954	biolink:PhenotypicFeature	Recurrent fever	Periodic (episodic or recurrent) bouts of fever.	SNOMEDCT_US:77957000|UMLS:C0277799	hp.json	Episodic fever|Increased body temperature, episodic|Intermittent fever|Hyperthermia, episodic	http://purl.obolibrary.org/obo/HP_0001954							
HP:0001955	biolink:PhenotypicFeature	Unexplained fevers	Episodes of fever for which no infectious cause can be identified.	UMLS:C1844662	hp.json	Unexplained fevers	http://purl.obolibrary.org/obo/HP_0001955							
HP:0001956	biolink:PhenotypicFeature	Truncal obesity	Obesity located preferentially in the trunk of the body as opposed to the extremities.	MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277	hp.json	Truncal obesity|Centripetal obesity	http://purl.obolibrary.org/obo/HP_0001956							
HP:0001958	biolink:PhenotypicFeature	Nonketotic hypoglycemia		UMLS:C1865292	hp.json		http://purl.obolibrary.org/obo/HP_0001958							
HP:0001959	biolink:PhenotypicFeature	Polydipsia	Excessive thirst manifested by excessive fluid intake.	MSH:D059606|SNOMEDCT_US:17173007|SNOMEDCT_US:267026004|UMLS:C0085602	hp.json	Extreme thirst	http://purl.obolibrary.org/obo/HP_0001959							
HP:0001960	biolink:PhenotypicFeature	Hypokalemic metabolic alkalosis		UMLS:C0740898	hp.json		http://purl.obolibrary.org/obo/HP_0001960							
HP:0001961	biolink:PhenotypicFeature	Hypoplastic heart		UMLS:C3151525	hp.json	Small heart|Underdeveloped heart	http://purl.obolibrary.org/obo/HP_0001961							
HP:0001962	biolink:PhenotypicFeature	Palpitations	A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.	SNOMEDCT_US:80313002|UMLS:C0030252	hp.json	Missed heart beat|Palpitations|Skipped heart beat|Heart palpitations	http://purl.obolibrary.org/obo/HP_0001962							
HP:0001963	biolink:PhenotypicFeature	Abnormal speech discrimination	A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.	UMLS:C1836752	hp.json	Abnormal speech discrimination|Poor speech discrimination	http://purl.obolibrary.org/obo/HP_0001963							
HP:0001964	biolink:PhenotypicFeature	Aplasia/Hypoplasia of metatarsal bones	Absence or underdevelopment of the metatarsal bones.	UMLS:C1860182	hp.json	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							
HP:0001965	biolink:PhenotypicFeature	Abnormal scalp morphology	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.	UMLS:C4025734	hp.json	Abnormality of the scalp|Anomaly of scalp	http://purl.obolibrary.org/obo/HP_0001965							
HP:0001966	biolink:PhenotypicFeature	Abnormal glomerular mesangium morphology	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.	UMLS:C4025733	hp.json	Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium|Mesangial abnormality	http://purl.obolibrary.org/obo/HP_0001966							
HP:0001967	biolink:PhenotypicFeature	Diffuse mesangial sclerosis	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.	MSH:C537346|SNOMEDCT_US:111406002|UMLS:C0268747	hp.json	Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis	http://purl.obolibrary.org/obo/HP_0001967							
HP:0001969	biolink:PhenotypicFeature	Abnormal tubulointerstitial morphology	An abnormality that involves the tubules and interstitial tissue of the kidney.	MSH:D009395|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349|UMLS:C4025732	hp.json	Tubulointerstitial abnormality|Tubulointerstitial nephropathy	http://purl.obolibrary.org/obo/HP_0001969							
HP:0001970	biolink:PhenotypicFeature	Tubulointerstitial nephritis	A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	MSH:D009395|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349	hp.json	Interstitial nephritis|Nephritis, Tubulointerstitial	http://purl.obolibrary.org/obo/HP_0001970							
HP:0001971	biolink:PhenotypicFeature	Hypersplenism	A malfunctioning of the spleen in which it prematurely destroys red blood cells.	MSH:D006971|SNOMEDCT_US:58381000|UMLS:C0020532	hp.json		http://purl.obolibrary.org/obo/HP_0001971							
HP:0001972	biolink:PhenotypicFeature	Macrocytic anemia	A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).	MSH:D000748|SNOMEDCT_US:83414005|UMLS:C0002886	hp.json	Macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0001972							
HP:0001973	biolink:PhenotypicFeature	Autoimmune thrombocytopenia	The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.	MSH:D016553|SNOMEDCT_US:128091003|SNOMEDCT_US:13172003|SNOMEDCT_US:234490009|SNOMEDCT_US:32273002|UMLS:C0242584|UMLS:C0398650|UMLS:C0920163	hp.json	Idiopathic thrombocytopenia|Immune thrombocytopenia|Idiopathic thrombocytopenic purpura	http://purl.obolibrary.org/obo/HP_0001973							
HP:0001974	biolink:PhenotypicFeature	Leukocytosis	An abnormal increase in the number of leukocytes in the blood.	MSH:D007964|SNOMEDCT_US:111583006|UMLS:C0023518	hp.json	Elevated white blood count|High white blood count|Increased blood leukocyte number	http://purl.obolibrary.org/obo/HP_0001974							
HP:0001975	biolink:PhenotypicFeature	Decreased platelet glycoprotein IIb-IIIa	Decreased cell membrane concentration of glycoprotein IIb-IIIa.	MSH:D013915|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C4021767	hp.json	Reduced level of platelet glycoprotein IIb/IIIa complex|Glanzmann thrombasthenia	http://purl.obolibrary.org/obo/HP_0001975							
HP:0001976	biolink:PhenotypicFeature	Reduced antithrombin III activity	An abnormality of coagulation related to a decreased concentration of antithrombin-III.	MSH:D020152|SNOMEDCT_US:36351005|UMLS:C0272375	hp.json	Anti-thrombin III deficiency|Antithrombin III deficiency|Decreased antithrombin III	http://purl.obolibrary.org/obo/HP_0001976							
HP:0001977	biolink:PhenotypicFeature	Abnormal thrombosis	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).	UMLS:C4025731	hp.json	Abnormal blood clot|Abnormal blood clotting	http://purl.obolibrary.org/obo/HP_0001977							
HP:0001978	biolink:PhenotypicFeature	Extramedullary hematopoiesis	The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.	SNOMEDCT_US:124958002|SNOMEDCT_US:42952007|UMLS:C1292120|UMLS:C2613439	hp.json	Extramedullary erythropoiesis	http://purl.obolibrary.org/obo/HP_0001978							
HP:0001980	biolink:PhenotypicFeature	Megaloblastic bone marrow	Abnormal increased number of megaloblasts in the bone marrow.	SNOMEDCT_US:167921008|UMLS:C0238801	hp.json		http://purl.obolibrary.org/obo/HP_0001980							
HP:0001981	biolink:PhenotypicFeature	Schistocytosis	The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.	SNOMEDCT_US:385472000|UMLS:C0344386	hp.json	Schistocytes	http://purl.obolibrary.org/obo/HP_0001981							
HP:0001982	biolink:PhenotypicFeature	Sea-blue histiocytosis	An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.	MSH:D012618|SNOMEDCT_US:37821003|UMLS:C0036489	hp.json	'Sea blue' histiocytes|Sea-blue histiocyte	http://purl.obolibrary.org/obo/HP_0001982							
HP:0001983	biolink:PhenotypicFeature	Reduced lymphocyte surface expression of CD43	A reduction in the expression of CD43 on the cell surface of lymphocytes.	UMLS:C4021766	hp.json	Cd43 defectively expressed on surface of blood cells|Reduced lymphocyte surface expression of sialophorin	http://purl.obolibrary.org/obo/HP_0001983							
HP:0001984	biolink:PhenotypicFeature	Intolerance to protein		UMLS:C1396243	hp.json		http://purl.obolibrary.org/obo/HP_0001984							
HP:0001985	biolink:PhenotypicFeature	Hypoketotic hypoglycemia	A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.	UMLS:C1856438	hp.json	Hypoglycemia, hypoketotic	http://purl.obolibrary.org/obo/HP_0001985							
HP:0001986	biolink:PhenotypicFeature	Hypertonic dehydration		UMLS:C1112601	hp.json	Hyperosmolar dehydration	http://purl.obolibrary.org/obo/HP_0001986							
HP:0001987	biolink:PhenotypicFeature	Hyperammonemia	An increased concentration of ammonia in the blood.	MSH:D022124|SNOMEDCT_US:9360008|UMLS:C0220994	hp.json	High blood ammonia levels	http://purl.obolibrary.org/obo/HP_0001987							
HP:0001988	biolink:PhenotypicFeature	Recurrent hypoglycemia	Recurrent episodes of decreased concentration of glucose in the blood.	UMLS:C1846288	hp.json	Recurrent low blood sugar levels|Hypoglycemic episodes|Recurrent hypoglycaemia|Recurrent hypoglycemic episodes|hypoglycaemia, recurrent|hypoglycemia, recurrent	http://purl.obolibrary.org/obo/HP_0001988							
HP:0001989	biolink:PhenotypicFeature	Fetal akinesia sequence	Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).	MSH:C536647|SNOMEDCT_US:401138005|UMLS:C1276035|UMLS:C3151520	hp.json	Foetal akinesia sequence|Early severe foetal akinesia sequence|Foetal akinesia|Early severe fetal akinesia sequence|Fetal akinesia	http://purl.obolibrary.org/obo/HP_0001989							hposlim_core
HP:0001991	biolink:PhenotypicFeature	Aplasia/Hypoplasia of toe	Absence or hypoplasia of toes.	UMLS:C3551148	hp.json	Absent/small toe|Absent/underdeveloped toe|Aplastic/hypoplastic toe phalanges|Absent/hypoplastic toes	http://purl.obolibrary.org/obo/HP_0001991							
HP:0001992	biolink:PhenotypicFeature	Organic aciduria	Excretion of non-amino organic acids in urine.	UMLS:C0241775	hp.json		http://purl.obolibrary.org/obo/HP_0001992							
HP:0001993	biolink:PhenotypicFeature	Ketoacidosis	Acidosis resulting from accumulation of ketone bodies.	SNOMEDCT_US:56051008|UMLS:C0220982	hp.json		http://purl.obolibrary.org/obo/HP_0001993							
HP:0001994	biolink:PhenotypicFeature	Renal Fanconi syndrome	An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.	MSH:D005198|SNOMEDCT_US:236468006|SNOMEDCT_US:44673006|UMLS:C0341703	hp.json	'de toni-fanconi-debre' syndrome|Renal tubular fanconi syndrome	http://purl.obolibrary.org/obo/HP_0001994							
HP:0001995	biolink:PhenotypicFeature	Hyperchloremic acidosis	Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.	SNOMEDCT_US:18104000|UMLS:C0085569	hp.json		http://purl.obolibrary.org/obo/HP_0001995							
HP:0001996	biolink:PhenotypicFeature	Chronic metabolic acidosis	Longstanding metabolic acidosis.	UMLS:C0740749	hp.json		http://purl.obolibrary.org/obo/HP_0001996							
HP:0001997	biolink:PhenotypicFeature	Gout	Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.	MSH:D006073|MSH:D015210|SNOMEDCT_US:170733007|SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|SNOMEDCT_US:90560007|UMLS:C0003868|UMLS:C0018099	hp.json	Gouty arthritis	http://purl.obolibrary.org/obo/HP_0001997							
HP:0001998	biolink:PhenotypicFeature	Neonatal hypoglycemia		SNOMEDCT_US:52767006|UMLS:C0158986	hp.json	Low blood sugar in newborn	http://purl.obolibrary.org/obo/HP_0001998							
HP:0001999	biolink:PhenotypicFeature	Abnormal facial shape	An abnormal morphology (form) of the face or its components.	SNOMEDCT_US:248200007|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004|UMLS:C0266617|UMLS:C0424503|UMLS:C1385263|UMLS:C4072832|UMLS:C4072833	hp.json	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							hposlim_core
HP:0002000	biolink:PhenotypicFeature	Short columella	Reduced distance from the anterior border of the naris to the subnasale.	UMLS:C1857479|UMLS:C4280585	hp.json	Columella, short|Decreased length of columella|Hypoplasia of columella	http://purl.obolibrary.org/obo/HP_0002000							hposlim_core
HP:0002002	biolink:PhenotypicFeature	Deep philtrum	Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.	UMLS:C1839797|UMLS:C4020861	hp.json	Increased depth of philtrum|Philtrum, deep|Prominent philtrum|Pronounced philtrum|Depressed philtrum	http://purl.obolibrary.org/obo/HP_0002002							hposlim_core
HP:0002003	biolink:PhenotypicFeature	Large forehead		UMLS:C1839783|UMLS:C4280583|UMLS:C4280584	hp.json	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	biolink:PhenotypicFeature	Facial cleft	A congenital malformation with a cleft (gap or opening) in the face.	SNOMEDCT_US:92821006|UMLS:C0685787	hp.json	Cleft of the face|Facial cleft|Facial clefts|Tessier facial cleft	http://purl.obolibrary.org/obo/HP_0002006							hposlim_core
HP:0002007	biolink:PhenotypicFeature	Frontal bossing	Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.	SNOMEDCT_US:90145001|UMLS:C0221354	hp.json	Frontal protruberance|Skull bossing	http://purl.obolibrary.org/obo/HP_0002007							hposlim_core
HP:0002009	biolink:PhenotypicFeature	Potter facies	A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.	SNOMEDCT_US:24814002|UMLS:C0266619	hp.json		http://purl.obolibrary.org/obo/HP_0002009							
HP:0002010	biolink:PhenotypicFeature	Narrow maxilla		UMLS:C1851835	hp.json	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	biolink:PhenotypicFeature	Morphological central nervous system abnormality	A structural abnormality of the central nervous system.	MSH:D002493|SNOMEDCT_US:23853001|UMLS:C0007682|UMLS:C4021765	hp.json	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							
HP:0002012	biolink:PhenotypicFeature	Abnormality of the abdominal organs	An abnormality of the viscera of the abdomen.	UMLS:C4021764	hp.json	Abnormality of the abdominal organs|Gastrointestinal tract defects	http://purl.obolibrary.org/obo/HP_0002012							
HP:0002013	biolink:PhenotypicFeature	Vomiting	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.	MEDDRA:10047700|MSH:D014839|SNOMEDCT_US:249497008|SNOMEDCT_US:300359004|SNOMEDCT_US:422400008|UMLS:C0042963	hp.json	Throwing up|Vomiting|Emesis	http://purl.obolibrary.org/obo/HP_0002013							hposlim_core
HP:0002014	biolink:PhenotypicFeature	Diarrhea	Abnormally increased frequency of loose or watery bowel movements.	MSH:D003967|SNOMEDCT_US:267060006|SNOMEDCT_US:62315008|UMLS:C0011991	hp.json	Diarrhea|Watery stool|Diarrhoea	http://purl.obolibrary.org/obo/HP_0002014							
HP:0002015	biolink:PhenotypicFeature	Dysphagia	Difficulty in swallowing.	MEDDRA:10013950|MSH:D003680|SNOMEDCT_US:288939007|SNOMEDCT_US:40739000|UMLS:C0011168	hp.json	Poor swallowing|Swallowing difficulties|Swallowing difficulty|Difficulty swallowing|Deglutition disorder	http://purl.obolibrary.org/obo/HP_0002015							hposlim_core
HP:0002017	biolink:PhenotypicFeature	Nausea and vomiting	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.	SNOMEDCT_US:16932000|UMLS:C0027498	hp.json	Nausea and vomiting	http://purl.obolibrary.org/obo/HP_0002017							
HP:0002018	biolink:PhenotypicFeature	Nausea	A sensation of unease in the stomach together with an urge to vomit.	MEDDRA:10028813|MSH:D009325|SNOMEDCT_US:422587007|UMLS:C0027497	hp.json	Nausea	http://purl.obolibrary.org/obo/HP_0002018							hposlim_core
HP:0002019	biolink:PhenotypicFeature	Constipation	Infrequent or difficult evacuation of feces.	MSH:D003248|SNOMEDCT_US:14760008|SNOMEDCT_US:225595004|UMLS:C0009806|UMLS:C0237326	hp.json	Constipation|Costiveness|Dyschezia	http://purl.obolibrary.org/obo/HP_0002019							
HP:0002020	biolink:PhenotypicFeature	Gastroesophageal reflux	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.	MSH:D005764|MSH:D006356|SNOMEDCT_US:16331000|SNOMEDCT_US:235595009|SNOMEDCT_US:698065002|UMLS:C0017168|UMLS:C0018834	hp.json	GERD|Acid reflux|Acid reflux disease|Heartburn|Gastro-oesophageal reflux|Gastroesophageal reflux disease	http://purl.obolibrary.org/obo/HP_0002020							hposlim_core
HP:0002021	biolink:PhenotypicFeature	Pyloric stenosis	An abnormal narrowing of the pylorus.	Fyler:4444|MEDDRA:10037621|MSH:D011707|SNOMEDCT_US:367403001|UMLS:C0034194	hp.json		http://purl.obolibrary.org/obo/HP_0002021							hposlim_core
HP:0002023	biolink:PhenotypicFeature	Anal atresia	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.	Fyler:4402|Fyler:4443|MEDDRA:10002120|MSH:D001006|SNOMEDCT_US:204712000|SNOMEDCT_US:204731006|UMLS:C0003466	hp.json	Absent anus|Imperforate anus	http://purl.obolibrary.org/obo/HP_0002023							hposlim_core
HP:0002024	biolink:PhenotypicFeature	Malabsorption	Impaired ability to absorb one or more nutrients from the intestine.	UMLS:C3714745	hp.json	Intestinal malabsorption|Malabsorption	http://purl.obolibrary.org/obo/HP_0002024							
HP:0002025	biolink:PhenotypicFeature	Anal stenosis	Abnormal narrowing of the anal opening.	MEDDRA:10002176|SNOMEDCT_US:250037002|SNOMEDCT_US:69914001|UMLS:C0262374	hp.json	Narrowing of anal opening	http://purl.obolibrary.org/obo/HP_0002025							hposlim_core
HP:0002027	biolink:PhenotypicFeature	Abdominal pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.	MEDDRA:10000081|MSH:D015746|SNOMEDCT_US:21522001|UMLS:C0000737	hp.json	Gastro pain|Gastrointestinal pain|Abdominal pain|Pain in stomach|Stomach pain|Abdominal discomfort|Upset stomach	http://purl.obolibrary.org/obo/HP_0002027							hposlim_core
HP:0002028	biolink:PhenotypicFeature	Chronic diarrhea	The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.	SNOMEDCT_US:236071009|UMLS:C0401151	hp.json	Chronic diarrhea|Chronic diarrhoea|Diarrhea, recurrent|Recurrent diarrhea|Recurrent diarrhoea	http://purl.obolibrary.org/obo/HP_0002028							
HP:0002031	biolink:PhenotypicFeature	Abnormal esophagus morphology	A structural abnormality of the esophagus.	SNOMEDCT_US:69771008|UMLS:C0266126	hp.json	Abnormality of esophagus structure|Abnormal oesophagus morphology|Abnormality of oesophagus structure|Anomaly of the oesophagus|Anomaly of the esophagus	http://purl.obolibrary.org/obo/HP_0002031							
HP:0002032	biolink:PhenotypicFeature	Esophageal atresia	A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.	Fyler:4412|MSH:D004933|SNOMEDCT_US:26179002|UMLS:C0014850	hp.json	Birth defect in which part of esophagus did not develop|Birth defect in which part of oesophagus did not develop	http://purl.obolibrary.org/obo/HP_0002032							
HP:0002033	biolink:PhenotypicFeature	Poor suck	An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.	UMLS:C1837142	hp.json	Poor suck|Poor sucking|Sucking weakness	http://purl.obolibrary.org/obo/HP_0002033							
HP:0002034	biolink:PhenotypicFeature	Abnormal rectum morphology	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.	SNOMEDCT_US:86993003|UMLS:C0266210	hp.json	Abnormality of the rectum|Anomaly of the rectum	http://purl.obolibrary.org/obo/HP_0002034							
HP:0002035	biolink:PhenotypicFeature	Rectal prolapse	Protrusion of the rectal mucous membrane through the anus.	MEDDRA:10038077|MSH:D012005|SNOMEDCT_US:57773001|UMLS:C0034888	hp.json	Rectum protrudes through anus|Rectal prolapsed	http://purl.obolibrary.org/obo/HP_0002035							hposlim_core
HP:0002036	biolink:PhenotypicFeature	Hiatus hernia	The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.	MEDDRA:10020028|MSH:D006551|SNOMEDCT_US:84089009|UMLS:C3489393	hp.json	Stomach hernia|Hiatal hernia	http://purl.obolibrary.org/obo/HP_0002036							hposlim_core
HP:0002037	biolink:PhenotypicFeature	Inflammation of the large intestine	Inflammation, or an inflammatory state in the large intestine.	MSH:D015212|SNOMEDCT_US:24526004|SNOMEDCT_US:302168000|UMLS:C0021390|UMLS:C0578878	hp.json	Inflammation of the large intestine|Inflammatory bowel disease	http://purl.obolibrary.org/obo/HP_0002037							
HP:0002038	biolink:PhenotypicFeature	Protein avoidance		UMLS:C1839531	hp.json		http://purl.obolibrary.org/obo/HP_0002038							
HP:0002039	biolink:PhenotypicFeature	Anorexia	A lack or loss of appetite for food (as a medical condition).	MSH:D000855|SNOMEDCT_US:79890006|UMLS:C0003123	hp.json	Anorexia	http://purl.obolibrary.org/obo/HP_0002039							
HP:0002040	biolink:PhenotypicFeature	Esophageal varix	Extreme dilation of the submucusoal veins in the lower portion of the esophagus.	MEDDRA:10056091|MSH:D004932|SNOMEDCT_US:28670008|UMLS:C0014867	hp.json	Enlarged vein in esophagus|Enlarged vein in oesophagus|Esophageal varices	http://purl.obolibrary.org/obo/HP_0002040							hposlim_core
HP:0002041	biolink:PhenotypicFeature	Intractable diarrhea		UMLS:C0743178	hp.json	Intractable diarrhoea	http://purl.obolibrary.org/obo/HP_0002041							
HP:0002043	biolink:PhenotypicFeature	Esophageal stricture	A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.	MSH:D004940|SNOMEDCT_US:63305008|UMLS:C0014866	hp.json	Narrowing of esophagus due to inflammation and scar tissue|Narrowing of oesophagus due to inflammation and scar tissue	http://purl.obolibrary.org/obo/HP_0002043							
HP:0002044	biolink:PhenotypicFeature	Zollinger-Ellison syndrome	A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.	MEDDRA:10048281|MSH:D015043|SNOMEDCT_US:53132006|UMLS:C0043515	hp.json		http://purl.obolibrary.org/obo/HP_0002044							hposlim_core
HP:0002045	biolink:PhenotypicFeature	Hypothermia	Reduced body temperature due to failed thermoregulation.	MSH:D007035|SNOMEDCT_US:386689009|UMLS:C0020672	hp.json	Abnormally low body temperature|Hypothermia	http://purl.obolibrary.org/obo/HP_0002045							
HP:0002046	biolink:PhenotypicFeature	Heat intolerance	The inability to maintain a comfortable body temperature in warm or hot weather.	SNOMEDCT_US:69215007|UMLS:C0231274	hp.json	Heat intolerance|Intolerance to heat and fevers	http://purl.obolibrary.org/obo/HP_0002046							hposlim_core
HP:0002047	biolink:PhenotypicFeature	Malignant hyperthermia	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.	MSH:D008305|SNOMEDCT_US:213026003|SNOMEDCT_US:405501007|UMLS:C0024591	hp.json	Malignant hyperthermia with anaesthesia|Malignant hyperthermia with anesthesia	http://purl.obolibrary.org/obo/HP_0002047							
HP:0002048	biolink:PhenotypicFeature	Renal cortical atrophy	Atrophy of the cortex of the kidney.	UMLS:C4025730	hp.json		http://purl.obolibrary.org/obo/HP_0002048							
HP:0002049	biolink:PhenotypicFeature	Proximal renal tubular acidosis	A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.	MSH:D000141|SNOMEDCT_US:24790002|UMLS:C0268435	hp.json	Proximal tubular acidosis|Renal tubular acidosis, proximal|Renal tubular acidosis, type II	http://purl.obolibrary.org/obo/HP_0002049							
HP:0002050	biolink:PhenotypicFeature	Macroorchidism, postpubertal		UMLS:C1839782	hp.json		http://purl.obolibrary.org/obo/HP_0002050							
HP:0002054	biolink:PhenotypicFeature	Heavy supraorbital ridges		UMLS:C1845107	hp.json	Heavy brow of the face|Heavy supraorbital ridge	http://purl.obolibrary.org/obo/HP_0002054							
HP:0002055	biolink:PhenotypicFeature	Curved linear dimple below the lower lip		UMLS:C1844572	hp.json		http://purl.obolibrary.org/obo/HP_0002055							
HP:0002056	biolink:PhenotypicFeature	Abnormality of the glabella	An abnormality of the glabella.	UMLS:C4021763	hp.json	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							
HP:0002057	biolink:PhenotypicFeature	Prominent glabella	Forward protrusion of the glabella.	UMLS:C1860247	hp.json	Prominent area between the eyebrows|Protruding area between the eyebrows|Convex glabella|Hyperplasia of glabella	http://purl.obolibrary.org/obo/HP_0002057							hposlim_core
HP:0002058	biolink:PhenotypicFeature	Myopathic facies	A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.	SNOMEDCT_US:26432009|UMLS:C0332615	hp.json	Myopathic face|Myopathic facial appearance	http://purl.obolibrary.org/obo/HP_0002058							
HP:0002059	biolink:PhenotypicFeature	Cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.	SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946|UMLS:C4020860	hp.json	Degeneration of cerebrum|Supratentorial atrophy	http://purl.obolibrary.org/obo/HP_0002059							
HP:0002060	biolink:PhenotypicFeature	Abnormal cerebral morphology	Any structural abnormality of the telencephalon, which is also known as the cerebrum.	UMLS:C4021762	hp.json	Abnormality of the cerebrum|Abnormality of the telencephalon|Cerebral lesion	http://purl.obolibrary.org/obo/HP_0002060							
HP:0002061	biolink:PhenotypicFeature	Lower limb spasticity	Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis	SNOMEDCT_US:394679006|UMLS:C1271100	hp.json		http://purl.obolibrary.org/obo/HP_0002061							
HP:0002062	biolink:PhenotypicFeature	Morphological abnormality of the pyramidal tract	Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.	UMLS:C4020859|UMLS:C4021761	hp.json	Abnormality of the pyramidal tracts|Pyramidal tract disease	http://purl.obolibrary.org/obo/HP_0002062							
HP:0002063	biolink:PhenotypicFeature	Rigidity	Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.	MSH:D009127|SNOMEDCT_US:16046003|UMLS:C0026837	hp.json	Muscle rigidity|Rigidity	http://purl.obolibrary.org/obo/HP_0002063							
HP:0002064	biolink:PhenotypicFeature	Spastic gait	Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.	MSH:D020233|SNOMEDCT_US:9447003|UMLS:C0231687	hp.json	Spastic walk	http://purl.obolibrary.org/obo/HP_0002064							
HP:0002066	biolink:PhenotypicFeature	Gait ataxia	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.	MSH:D020234|SNOMEDCT_US:25136009|UMLS:C0751837	hp.json	Inability to coordinate movements when walking|Ataxia of gait|Ataxic gait	http://purl.obolibrary.org/obo/HP_0002066							
HP:0002067	biolink:PhenotypicFeature	Bradykinesia	Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).	MSH:D018476|SNOMEDCT_US:399317006|UMLS:C0233565	hp.json	Slow movements|Slowness of movements	http://purl.obolibrary.org/obo/HP_0002067							
HP:0002068	biolink:PhenotypicFeature	Neuromuscular dysphagia		UMLS:C4025729	hp.json		http://purl.obolibrary.org/obo/HP_0002068							
HP:0002069	biolink:PhenotypicFeature	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.	MSH:D012640|SNOMEDCT_US:54200006|UMLS:C0494475	hp.json	Grand mal seizures|Tonic-clonic convulsions|Generalised convulsion|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							
HP:0002070	biolink:PhenotypicFeature	Limb ataxia	A kind of ataxia that affects movements of the extremities.	MSH:D001259|UMLS:C0750937	hp.json	Appendicular ataxia	http://purl.obolibrary.org/obo/HP_0002070							
HP:0002071	biolink:PhenotypicFeature	Abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).	MSH:D001480|SNOMEDCT_US:43378000|SNOMEDCT_US:76349003|UMLS:C0015371|UMLS:C0234133	hp.json	Extrapyramidal dysfunction|Extrapyramidal signs|Extrapyramidal symptoms|Extrapyramidal syndrome|Extrapyramidal tract signs	http://purl.obolibrary.org/obo/HP_0002071							
HP:0002072	biolink:PhenotypicFeature	Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.	MSH:D002819|SNOMEDCT_US:271700006|UMLS:C0008489|UMLS:C4020858	hp.json	Choreic movements|Choreiform movements|Choreatic disease	http://purl.obolibrary.org/obo/HP_0002072							
HP:0002073	biolink:PhenotypicFeature	Progressive cerebellar ataxia		SNOMEDCT_US:230233000|UMLS:C0393525	hp.json	Cerebellar ataxia, progressive|Progressive ataxia	http://purl.obolibrary.org/obo/HP_0002073							
HP:0002074	biolink:PhenotypicFeature	Increased neuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.	UMLS:C4020857|UMLS:C4025728	hp.json	Neuronal lipopigments	http://purl.obolibrary.org/obo/HP_0002074							
HP:0002075	biolink:PhenotypicFeature	Dysdiadochokinesis	A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.	SNOMEDCT_US:23133003|UMLS:C0234979	hp.json	Difficulty performing quick and alternating movements|Dysdiadochokinesia	http://purl.obolibrary.org/obo/HP_0002075							
HP:0002076	biolink:PhenotypicFeature	Migraine	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.	MSH:D008881|SNOMEDCT_US:37796009|UMLS:C0149931|UMLS:C0744641	hp.json	Intermittent migraine headaches|Migraine|Migraine headache|Migraine headaches	http://purl.obolibrary.org/obo/HP_0002076							
HP:0002077	biolink:PhenotypicFeature	Migraine with aura	A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.	MSH:D020325|SNOMEDCT_US:4473006|UMLS:C0154723	hp.json		http://purl.obolibrary.org/obo/HP_0002077							
HP:0002078	biolink:PhenotypicFeature	Truncal ataxia	Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.	MSH:D001259|SNOMEDCT_US:250067008|UMLS:C0427190	hp.json	Instability or lack of coordination of central trunk muscles|Trunk ataxia	http://purl.obolibrary.org/obo/HP_0002078							
HP:0002079	biolink:PhenotypicFeature	Hypoplasia of the corpus callosum	Underdevelopment of the corpus callosum.	SNOMEDCT_US:204043002|UMLS:C0344482	hp.json	Underdevelopment of part of brain called corpus callosum|Corpus callosum hypoplasia|Hypoplasia of corpus callosum|Hypoplastic corpus callosum	http://purl.obolibrary.org/obo/HP_0002079							
HP:0002080	biolink:PhenotypicFeature	Intention tremor	A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).	MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020856	hp.json	Cerebellar tremor|Terminal tremor	http://purl.obolibrary.org/obo/HP_0002080							
HP:0002083	biolink:PhenotypicFeature	Migraine without aura	Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.	MSH:D020326|SNOMEDCT_US:56097005|UMLS:C0338480	hp.json		http://purl.obolibrary.org/obo/HP_0002083							
HP:0002084	biolink:PhenotypicFeature	Encephalocele	A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.	MSH:D004677|SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|SNOMEDCT_US:55999004|UMLS:C0014065	hp.json	Bifid skull|Cranium bifidum	http://purl.obolibrary.org/obo/HP_0002084							
HP:0002085	biolink:PhenotypicFeature	Occipital encephalocele	A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.	MSH:D004677|SNOMEDCT_US:42376006|UMLS:C0014067	hp.json	Brain tissue sticks out through back of skull|Occipital meningoencephalocele|Posterior encephalocele	http://purl.obolibrary.org/obo/HP_0002085							
HP:0002086	biolink:PhenotypicFeature	Abnormality of the respiratory system	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.	UMLS:C4018871	hp.json	Respiratory abnormality	http://purl.obolibrary.org/obo/HP_0002086							
HP:0002087	biolink:PhenotypicFeature	Abnormality of the upper respiratory tract	An abnormality of the upper respiratory tract.	UMLS:C4025727	hp.json	Abnormality of the upper respiratory tract|Upper respiratory tract issues	http://purl.obolibrary.org/obo/HP_0002087							
HP:0002088	biolink:PhenotypicFeature	Abnormal lung morphology	Any structural anomaly of the lung.	MSH:D008171|SNOMEDCT_US:19829001|UMLS:C0024115|UMLS:C4021760	hp.json	Abnormality of lung structure|Abnormality of the lungs|Abnormally shaped lung|Unusal lung shape|Lung disease	http://purl.obolibrary.org/obo/HP_0002088							
HP:0002089	biolink:PhenotypicFeature	Pulmonary hypoplasia		SNOMEDCT_US:80825009|UMLS:C0265783	hp.json	Poorly developed lungs|Small lung|Underdeveloped lung|Hypoplastic lung|Hypoplastic lungs|Lung hypoplasia	http://purl.obolibrary.org/obo/HP_0002089							
HP:0002090	biolink:PhenotypicFeature	Pneumonia	Inflammation of any part of the lung parenchyma.	MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285	hp.json	Pneumonia	http://purl.obolibrary.org/obo/HP_0002090							
HP:0002091	biolink:PhenotypicFeature	Restrictive ventilatory defect	A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.	SNOMEDCT_US:36485005|UMLS:C0085581|UMLS:C3277226	hp.json	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							
HP:0002092	biolink:PhenotypicFeature	Pulmonary arterial hypertension	Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.	MSH:D006976|MSH:D065627|SNOMEDCT_US:11399002|SNOMEDCT_US:697898008|SNOMEDCT_US:70995007|UMLS:C0020542|UMLS:C2973725|UMLS:C3203102	hp.json	Increased blood pressure in blood vessels of lungs|Pulmonary artery hypertension|Primary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0002092							
HP:0002093	biolink:PhenotypicFeature	Respiratory insufficiency		MSH:D012131|SNOMEDCT_US:409623005|UMLS:C0035229|UMLS:C4020855	hp.json	Respiratory impairment|Respiratory function loss|progressive respiratory failure	http://purl.obolibrary.org/obo/HP_0002093							
HP:0002094	biolink:PhenotypicFeature	Dyspnea	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.	MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|UMLS:C0013404	hp.json	Breathing difficulty|Difficult to breathe|Difficulty breathing|Shortness of breath|Trouble breathing|Dyspnoea|Panting|Abnormal breathing	http://purl.obolibrary.org/obo/HP_0002094							
HP:0002097	biolink:PhenotypicFeature	Emphysema		MSH:D011656|SNOMEDCT_US:87433001|UMLS:C0034067	hp.json	Pulmonary emphysema	http://purl.obolibrary.org/obo/HP_0002097							
HP:0002098	biolink:PhenotypicFeature	Respiratory distress	Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.	MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|UMLS:C0476273	hp.json	Breathing difficulties|Labored breathing|Respiratory difficulties	http://purl.obolibrary.org/obo/HP_0002098							
HP:0002099	biolink:PhenotypicFeature	Asthma	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.	MSH:D001249|SNOMEDCT_US:195967001|SNOMEDCT_US:991000119106|UMLS:C0004096|UMLS:C3714497	hp.json	Asthma|Bronchial asthma|Reactive airway disease	http://purl.obolibrary.org/obo/HP_0002099							
HP:0002100	biolink:PhenotypicFeature	Recurrent aspiration pneumonia	Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.	SNOMEDCT_US:430969000|UMLS:C0747651	hp.json		http://purl.obolibrary.org/obo/HP_0002100							
HP:0002101	biolink:PhenotypicFeature	Abnormal lung lobation	A developmental defect in the formation of pulmonary lobes.	SNOMEDCT_US:91842005|UMLS:C0685695	hp.json	Defective lung lobation|Lung segmentation defects	http://purl.obolibrary.org/obo/HP_0002101							
HP:0002102	biolink:PhenotypicFeature	Pleuritis	Inflammation of the pleura.	MSH:D010998|SNOMEDCT_US:196075003|UMLS:C0032231	hp.json	Inflammation of tissues lining lungs and chest|Pleurisy	http://purl.obolibrary.org/obo/HP_0002102							
HP:0002103	biolink:PhenotypicFeature	Abnormal pleura morphology	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.	UMLS:C4025726	hp.json	Abnormality of the pleura	http://purl.obolibrary.org/obo/HP_0002103							
HP:0002104	biolink:PhenotypicFeature	Apnea	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.	MSH:D001049|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|UMLS:C0003578	hp.json	Absence of spontaneous respiration|Apneic episodes|Apnoea	http://purl.obolibrary.org/obo/HP_0002104							
HP:0002105	biolink:PhenotypicFeature	Hemoptysis	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.	MSH:D006469|SNOMEDCT_US:66857006|SNOMEDCT_US:6686005|UMLS:C0019079	hp.json	Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus	http://purl.obolibrary.org/obo/HP_0002105							
HP:0002107	biolink:PhenotypicFeature	Pneumothorax	Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.	MSH:D011030|SNOMEDCT_US:36118008|UMLS:C0032326	hp.json	Collapsed lung	http://purl.obolibrary.org/obo/HP_0002107							
HP:0002108	biolink:PhenotypicFeature	Spontaneous pneumothorax	Pneumothorax occurring without traumatic injury to the chest or lung.	MSH:D011030|SNOMEDCT_US:80423007|UMLS:C0149781	hp.json	Spontaneous collapsed lung	http://purl.obolibrary.org/obo/HP_0002108							
HP:0002109	biolink:PhenotypicFeature	obsolete Abnormality of the bronchi			hp.json		http://purl.obolibrary.org/obo/HP_0002109							
HP:0002110	biolink:PhenotypicFeature	Bronchiectasis	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.	MSH:D001987|SNOMEDCT_US:12295008|UMLS:C0006267	hp.json	Permanent enlargement of the airways of the lungs	http://purl.obolibrary.org/obo/HP_0002110							
HP:0002111	biolink:PhenotypicFeature	obsolete Restrictive deficit on pulmonary function testing			hp.json		http://purl.obolibrary.org/obo/HP_0002111							
HP:0002113	biolink:PhenotypicFeature	Pulmonary infiltrates		UMLS:C0235896	hp.json	Lung infiltrates|Pulmonic infiltration	http://purl.obolibrary.org/obo/HP_0002113							
HP:0002118	biolink:PhenotypicFeature	Abnormal cerebral ventricle morphology	Any structural abnormality of the cerebral ventricles.	UMLS:C4025724	hp.json	Abnormality of the cerebral ventricles	http://purl.obolibrary.org/obo/HP_0002118							
HP:0002119	biolink:PhenotypicFeature	Ventriculomegaly	An increase in size of the ventricular system of the brain.	UMLS:C3278923	hp.json	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							
HP:0002120	biolink:PhenotypicFeature	Cerebral cortical atrophy	Atrophy of the cortex of the cerebrum.	SNOMEDCT_US:278849000|UMLS:C0235946	hp.json	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							
HP:0002121	biolink:PhenotypicFeature	Generalized non-motor (absence) seizure	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.	MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|UMLS:C0014553	hp.json	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							
HP:0002123	biolink:PhenotypicFeature	Generalized myoclonic seizure	A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.	MSH:D004831|MSH:D020191|SNOMEDCT_US:192992007|SNOMEDCT_US:267581004|SNOMEDCT_US:37356005|UMLS:C0014550|UMLS:C0751778|UMLS:C4021759	hp.json	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							
HP:0002126	biolink:PhenotypicFeature	Polymicrogyria	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).	MSH:D065706|SNOMEDCT_US:4945003|UMLS:C0266464	hp.json	More grooves in brain	http://purl.obolibrary.org/obo/HP_0002126							
HP:0002127	biolink:PhenotypicFeature	Abnormal upper motor neuron morphology	Any structural anomaly that affects the upper motor neuron.	UMLS:C4025723	hp.json	Abnormal shape of upper motor neuron	http://purl.obolibrary.org/obo/HP_0002127							
HP:0002131	biolink:PhenotypicFeature	Episodic ataxia	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. 	MSH:C580065|SNOMEDCT_US:421455009|UMLS:C1720189	hp.json	Intermittent cerebellar ataxia|Paroxysmal ataxia	http://purl.obolibrary.org/obo/HP_0002131							
HP:0002132	biolink:PhenotypicFeature	Porencephalic cyst	A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.	MSH:D065708|UMLS:C4082173	hp.json	Cavity within brain	http://purl.obolibrary.org/obo/HP_0002132							
HP:0002133	biolink:PhenotypicFeature	Status epilepticus	Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.	MSH:D013226|SNOMEDCT_US:230456007|UMLS:C0038220	hp.json	Repeated seizures without recovery between them|Prolonged seizure|Repeated seizure without recovery	http://purl.obolibrary.org/obo/HP_0002133							
HP:0002134	biolink:PhenotypicFeature	Abnormality of the basal ganglia	Abnormality of the basal ganglia.	MSH:D001480|SNOMEDCT_US:70835005|UMLS:C0004782	hp.json	Anomaly of the basal ganglia|Basal ganglia disease	http://purl.obolibrary.org/obo/HP_0002134							
HP:0002135	biolink:PhenotypicFeature	Basal ganglia calcification	The presence of calcium deposition affecting one or more structures of the basal ganglia.	UMLS:C1389280	hp.json	Basal ganglia calcifications|Basal ganglion calcification|Calcification of the basal ganglia	http://purl.obolibrary.org/obo/HP_0002135							
HP:0002136	biolink:PhenotypicFeature	Broad-based gait	An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.	UMLS:C0856863	hp.json	Wide based walk|Broad based gait|Wide based gait|Wide-based gait	http://purl.obolibrary.org/obo/HP_0002136							
HP:0002138	biolink:PhenotypicFeature	Subarachnoid hemorrhage	Hemorrhage occurring between the arachnoid mater and the pia mater.	MSH:D013345|SNOMEDCT_US:21454007|UMLS:C0038525	hp.json	Subarachnoid haemorrhage	http://purl.obolibrary.org/obo/HP_0002138							
HP:0002139	biolink:PhenotypicFeature	Arrhinencephaly		MSH:D016142|UMLS:C0078982	hp.json		http://purl.obolibrary.org/obo/HP_0002139							
HP:0002140	biolink:PhenotypicFeature	Ischemic stroke	Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.	SNOMEDCT_US:422504002|UMLS:C0948008	hp.json	Ischaemic stroke	http://purl.obolibrary.org/obo/HP_0002140							
HP:0002141	biolink:PhenotypicFeature	Gait imbalance		UMLS:C1836150	hp.json	Abnormality of balance|Abnormality of equilibrium|Imbalanced walk	http://purl.obolibrary.org/obo/HP_0002141							
HP:0002143	biolink:PhenotypicFeature	Abnormality of the spinal cord	An abnormality of the spinal cord (myelon).	MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928|UMLS:C4025722	hp.json	Abnormality of the spinal cord|Spinal cord disease|Spinal cord pathology	http://purl.obolibrary.org/obo/HP_0002143							
HP:0002144	biolink:PhenotypicFeature	Tethered cord	During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.	MSH:D009436|SNOMEDCT_US:70534000|UMLS:C0080218	hp.json	Occult spinal dysraphism	http://purl.obolibrary.org/obo/HP_0002144							
HP:0002145	biolink:PhenotypicFeature	Frontotemporal dementia	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.	MSH:D057180|SNOMEDCT_US:230270009|UMLS:C0338451	hp.json		http://purl.obolibrary.org/obo/HP_0002145							
HP:0002148	biolink:PhenotypicFeature	Hypophosphatemia	An abnormally decreased phosphate concentration in the blood.	MSH:D017674|SNOMEDCT_US:4996001|UMLS:C0085682	hp.json	Low blood phosphate level|Hypophosphataemia	http://purl.obolibrary.org/obo/HP_0002148							
HP:0002149	biolink:PhenotypicFeature	Hyperuricemia	An abnormally high level of uric acid in the blood.	MSH:D033461|SNOMEDCT_US:35885006|UMLS:C0740394	hp.json	High blood uric acid level|Hyperuricaemia	http://purl.obolibrary.org/obo/HP_0002149							
HP:0002150	biolink:PhenotypicFeature	Hypercalciuria		MSH:D053565|SNOMEDCT_US:71938000|UMLS:C0020438	hp.json	Elevated urine calcium levels|Hypercalcinuria	http://purl.obolibrary.org/obo/HP_0002150							
HP:0002151	biolink:PhenotypicFeature	Increased serum lactate	Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).	UMLS:C1836440	hp.json	Higher than normal levels of lactate in blood|Increased blood lactate	http://purl.obolibrary.org/obo/HP_0002151							
HP:0002152	biolink:PhenotypicFeature	Hyperproteinemia	An increased concentration of proteins in the blood.	SNOMEDCT_US:37064009|UMLS:C0267988	hp.json		http://purl.obolibrary.org/obo/HP_0002152							
HP:0002153	biolink:PhenotypicFeature	Hyperkalemia	An abnormally increased potassium concentration in the blood.	MSH:D006947|SNOMEDCT_US:14140009|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|UMLS:C0020461	hp.json	Elevated serum potassium levels	http://purl.obolibrary.org/obo/HP_0002153							
HP:0002154	biolink:PhenotypicFeature	Hyperglycinemia	An elevated concentration of glycine in the blood.	SNOMEDCT_US:64654004|UMLS:C0268559	hp.json	Elevated blood glycine levels|Hyperglycinaemia	http://purl.obolibrary.org/obo/HP_0002154							
HP:0002155	biolink:PhenotypicFeature	Hypertriglyceridemia	An abnormal increase in the level of triglycerides in the blood.	UMLS:C1522137	hp.json	Increased circulating Tg levels|Increased plasma Tg levels|Increased plasma triglycerides|Increased serum triglycerides|Increased triglycerides	http://purl.obolibrary.org/obo/HP_0002155							
HP:0002156	biolink:PhenotypicFeature	Homocystinuria	An increased concentration of homocystine in the urine.	MSH:D006712|SNOMEDCT_US:11282001|UMLS:C0019880	hp.json	High urine homocystine levels	http://purl.obolibrary.org/obo/HP_0002156							
HP:0002157	biolink:PhenotypicFeature	Azotemia	An increased concentration of nitrogen compounds in the blood.	MSH:D053099|SNOMEDCT_US:445009001|UMLS:C0242528	hp.json	Azotaemia	http://purl.obolibrary.org/obo/HP_0002157							
HP:0002159	biolink:PhenotypicFeature	Heparan sulfate excretion in urine	An increased concentration of heparan sulfates in the urine.	UMLS:C1854827	hp.json	Heparan sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0002159							
HP:0002160	biolink:PhenotypicFeature	Hyperhomocystinemia	An increased concentration of homocystine in the blood.	UMLS:C3806347	hp.json	Elevated blood homocystine|Homocystinemia	http://purl.obolibrary.org/obo/HP_0002160							
HP:0002161	biolink:PhenotypicFeature	Hyperlysinemia	An increased concentration of lysine in the blood.	MSH:D020167|SNOMEDCT_US:58558003|UMLS:C0268553	hp.json	Elevated blood lysine	http://purl.obolibrary.org/obo/HP_0002161							
HP:0002162	biolink:PhenotypicFeature	Low posterior hairline	Hair on the neck extends more inferiorly than usual.	UMLS:C1855728	hp.json	Low hairline at back of neck|Low posterior hair line	http://purl.obolibrary.org/obo/HP_0002162							hposlim_core
HP:0002164	biolink:PhenotypicFeature	Nail dysplasia	The presence of developmental dysplasia of the nail.	UMLS:C1834405	hp.json	Atypical nail growth|Dysplastic nails|Onychodysplasia	http://purl.obolibrary.org/obo/HP_0002164							
HP:0002165	biolink:PhenotypicFeature	Pterygium of nails	Inward advance of skin over the nail plate.	SNOMEDCT_US:110987009|UMLS:C0406438	hp.json	Nail pterygium	http://purl.obolibrary.org/obo/HP_0002165							
HP:0002166	biolink:PhenotypicFeature	Impaired vibration sensation in the lower limbs	A decrease in the ability to perceive vibration in the legs.	UMLS:C1849134	hp.json	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							
HP:0002167	biolink:PhenotypicFeature	Neurological speech impairment		MSH:D013064|UMLS:C0037822	hp.json	Speech disorder|Speech impairment|Speech impediment	http://purl.obolibrary.org/obo/HP_0002167							
HP:0002168	biolink:PhenotypicFeature	Scanning speech	An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.	SNOMEDCT_US:102935005|SNOMEDCT_US:77420001|UMLS:C0278184|UMLS:C0522198	hp.json	Explosive speech	http://purl.obolibrary.org/obo/HP_0002168							
HP:0002169	biolink:PhenotypicFeature	Clonus	A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.	SNOMEDCT_US:36649002|UMLS:C0009024	hp.json	Involuntary rhythmic muscular contractions and relaxations	http://purl.obolibrary.org/obo/HP_0002169							
HP:0002170	biolink:PhenotypicFeature	Intracranial hemorrhage	Hemorrhage occurring within the skull.	MSH:D020300|SNOMEDCT_US:1386000|UMLS:C0151699	hp.json	Bleeding within the skull|Intracranial haemorrhage	http://purl.obolibrary.org/obo/HP_0002170							
HP:0002171	biolink:PhenotypicFeature	Gliosis	Gliosis is the focal proliferation of glial cells in the central nervous system.	MSH:D005911|SNOMEDCT_US:359580009|SNOMEDCT_US:81415000|UMLS:C0017639	hp.json	Cerebral gliosis|Excess astrocytes in brain	http://purl.obolibrary.org/obo/HP_0002171							
HP:0002172	biolink:PhenotypicFeature	Postural instability	A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.	UMLS:C1843921	hp.json	Balance impairment|Abnormal retropulsion test|Imbalance	http://purl.obolibrary.org/obo/HP_0002172							
HP:0002173	biolink:PhenotypicFeature	Hypoglycemic seizures		UMLS:C0877056	hp.json		http://purl.obolibrary.org/obo/HP_0002173							
HP:0002174	biolink:PhenotypicFeature	Postural tremor	A type of tremors that is triggered by holding a limb in a fixed position.	MSH:D014202|SNOMEDCT_US:56610005|UMLS:C0234378	hp.json	Tremor, postural	http://purl.obolibrary.org/obo/HP_0002174							
HP:0002176	biolink:PhenotypicFeature	Spinal cord compression	External mechanical compression of the spinal cord.	MSH:D013117|SNOMEDCT_US:71286001|UMLS:C0037926	hp.json	Pressure on spinal cord	http://purl.obolibrary.org/obo/HP_0002176							
HP:0002179	biolink:PhenotypicFeature	Opisthotonus		SNOMEDCT_US:8652009|UMLS:C0151818	hp.json	Opisthotonos	http://purl.obolibrary.org/obo/HP_0002179							
HP:0002180	biolink:PhenotypicFeature	Neurodegeneration	Progressive loss of neural cells and tissue.	MSH:D009410|MSH:D019636|UMLS:C0027746|UMLS:C0524851|UMLS:C4020854	hp.json	Ongoing loss of nerve cells|Neuro-degenerative disease|Neurodegenerative disease|Progressive neurodegenerative disorder	http://purl.obolibrary.org/obo/HP_0002180							
HP:0002181	biolink:PhenotypicFeature	Cerebral edema	Abnormal accumulation of fluid in the brain.	MSH:D001929|SNOMEDCT_US:2032001|UMLS:C0006114|UMLS:C1527311	hp.json	Brain swelling|Swelling of brain|Cerebral oedema|Brain edema|Brain oedema	http://purl.obolibrary.org/obo/HP_0002181							
HP:0002183	biolink:PhenotypicFeature	Phonophobia	An abnormally heightened sensitivity to loud sounds.	MSH:D012001|SNOMEDCT_US:313387002|UMLS:C0751466	hp.json	Fear of loud sounds	http://purl.obolibrary.org/obo/HP_0002183							
HP:0002185	biolink:PhenotypicFeature	Neurofibrillary tangles	Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.	MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400	hp.json	Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments	http://purl.obolibrary.org/obo/HP_0002185							
HP:0002186	biolink:PhenotypicFeature	Apraxia	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.	MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007|UMLS:C0003635	hp.json	Apraxias	http://purl.obolibrary.org/obo/HP_0002186							
HP:0002187	biolink:PhenotypicFeature	Intellectual disability, profound	Profound mental retardation is defined as an intelligence quotient (IQ) below 20.	MSH:D008607|SNOMEDCT_US:31216003|UMLS:C0020796|UMLS:C3161330	hp.json	IQ less than 20|Mental retardation, profound|Profound mental retardation	http://purl.obolibrary.org/obo/HP_0002187							
HP:0002188	biolink:PhenotypicFeature	Delayed CNS myelination	Delayed myelination in the central nervous system.	UMLS:C4021758	hp.json	Delay in central nervous system myelination	http://purl.obolibrary.org/obo/HP_0002188							
HP:0002189	biolink:PhenotypicFeature	obsolete Excessive daytime sleepiness			hp.json		http://purl.obolibrary.org/obo/HP_0002189							
HP:0002190	biolink:PhenotypicFeature	Choroid plexus cyst	A cyst occurring within the choroid plexus within a cerebral ventricle.	SNOMEDCT_US:230790004|UMLS:C0338597	hp.json		http://purl.obolibrary.org/obo/HP_0002190							
HP:0002191	biolink:PhenotypicFeature	Progressive spasticity	Spasticity that increases in degree with time.	UMLS:C1859520	hp.json	Spasticity, progressive	http://purl.obolibrary.org/obo/HP_0002191							
HP:0002193	biolink:PhenotypicFeature	Pseudobulbar behavioral symptoms	Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.	UMLS:C4025720	hp.json	Pseudobulbar behavioural symptoms	http://purl.obolibrary.org/obo/HP_0002193							
HP:0002194	biolink:PhenotypicFeature	Delayed gross motor development	A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.	SNOMEDCT_US:430099007|UMLS:C1837658	hp.json	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							
HP:0002195	biolink:PhenotypicFeature	Dysgenesis of the cerebellar vermis	Defective development of the vermis of cerebellum.	UMLS:C4025719	hp.json		http://purl.obolibrary.org/obo/HP_0002195							
HP:0002196	biolink:PhenotypicFeature	Myelopathy		MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928	hp.json		http://purl.obolibrary.org/obo/HP_0002196							
HP:0002197	biolink:PhenotypicFeature	Generalized-onset seizure	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.	MSH:D012640|SNOMEDCT_US:246545002|UMLS:C0234533|UMLS:C1833488	hp.json	Generalized seizures|Generalized-onset seizures|Generalised onset seizure|Generalised seizures|Generalised-onset seizure|Primary generalised seizure|Generalized onset seizure|Primary generalized seizure	http://purl.obolibrary.org/obo/HP_0002197							
HP:0002198	biolink:PhenotypicFeature	Dilated fourth ventricle	An abnormal dilatation of the fourth cerebral ventricle.	UMLS:C1847117	hp.json	Enlarged fourth ventricle	http://purl.obolibrary.org/obo/HP_0002198							
HP:0002199	biolink:PhenotypicFeature	Hypocalcemic seizures		UMLS:C1855841	hp.json	Low calcium seizures|Seizures due to hypocalcemia	http://purl.obolibrary.org/obo/HP_0002199							
HP:0002200	biolink:PhenotypicFeature	Pseudobulbar signs	Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.	UMLS:C1838579	hp.json	Pseudobulbar symptoms	http://purl.obolibrary.org/obo/HP_0002200							
HP:0002202	biolink:PhenotypicFeature	Pleural effusion	The presence of an excessive amount of fluid in the pleural cavity.	MSH:D010996|SNOMEDCT_US:60046008|UMLS:C0032227	hp.json	Fluid around lungs	http://purl.obolibrary.org/obo/HP_0002202							
HP:0002203	biolink:PhenotypicFeature	Respiratory paralysis	Inability to move the muscles of respiration.	MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232	hp.json		http://purl.obolibrary.org/obo/HP_0002203							
HP:0002204	biolink:PhenotypicFeature	Pulmonary embolism	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.	MSH:D011655|SNOMEDCT_US:59282003|UMLS:C0034065	hp.json	Blood clot in artery of lung	http://purl.obolibrary.org/obo/HP_0002204							
HP:0002205	biolink:PhenotypicFeature	Recurrent respiratory infections	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.	UMLS:C3806482	hp.json	Frequent respiratory infections|Multiple respiratory infections|Recurrent respiratory infections|Susceptibility to respiratory infections|respiratory infections, recurrent	http://purl.obolibrary.org/obo/HP_0002205							
HP:0002206	biolink:PhenotypicFeature	Pulmonary fibrosis	Replacement of normal lung tissues by fibroblasts and collagen.	MSH:D011658|SNOMEDCT_US:51615001|UMLS:C0034069	hp.json		http://purl.obolibrary.org/obo/HP_0002206							
HP:0002207	biolink:PhenotypicFeature	Diffuse reticular or finely nodular infiltrations		UMLS:C1843428	hp.json		http://purl.obolibrary.org/obo/HP_0002207							
HP:0002208	biolink:PhenotypicFeature	Coarse hair	Hair shafts are rough in texture.	SNOMEDCT_US:48610005|UMLS:C0277959|UMLS:C4072834	hp.json	Rough hair texture|Coarse hair|Coarse hair texture	http://purl.obolibrary.org/obo/HP_0002208							hposlim_core
HP:0002209	biolink:PhenotypicFeature	Sparse scalp hair	Decreased number of hairs per unit area of skin of the scalp.	UMLS:C1857042|UMLS:C1873509	hp.json	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							
HP:0002211	biolink:PhenotypicFeature	White forelock	A triangular depigmented region of white hairs located in the anterior midline of the scalp.	SNOMEDCT_US:247564004|UMLS:C0344312	hp.json	White part of hair above forehead|Poliosis of anterior hair|Poliosis of forelock hair	http://purl.obolibrary.org/obo/HP_0002211							hposlim_core
HP:0002212	biolink:PhenotypicFeature	Curly hair		SNOMEDCT_US:225570000|UMLS:C0558165	hp.json	Curly hair	http://purl.obolibrary.org/obo/HP_0002212							
HP:0002213	biolink:PhenotypicFeature	Fine hair	Hair that is fine or thin to the touch.	SNOMEDCT_US:247546006|UMLS:C0423867	hp.json	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							hposlim_core
HP:0002215	biolink:PhenotypicFeature	Sparse axillary hair	Reduced number or density of axillary hair.	UMLS:C1858574	hp.json	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							
HP:0002216	biolink:PhenotypicFeature	Premature graying of hair	Development of gray hair at a younger than normal age.	SNOMEDCT_US:387833009|UMLS:C0263498	hp.json	Early graying|Premature graying|Premature graying of hair|Premature greying|Premature hair graying|Early greying|Premature greying of hair|Premature hair greying|Premature graying of the hair|Premature greying of the hair	http://purl.obolibrary.org/obo/HP_0002216							hposlim_core
HP:0002217	biolink:PhenotypicFeature	Slow-growing hair	Hair whose growth is slower than normal.	UMLS:C1832348	hp.json	Slow growing hair|Slow rate of hair growth|Slow speed of hair growth|Slow-growing hair	http://purl.obolibrary.org/obo/HP_0002217							hposlim_core
HP:0002218	biolink:PhenotypicFeature	Silver-gray hair	Hypopigmented hair that appears silver-gray.	UMLS:C1836576	hp.json	Silver-gray hair|Silver-gray hair color|Silvery-gray hair|Silver-gray hair colour	http://purl.obolibrary.org/obo/HP_0002218							
HP:0002219	biolink:PhenotypicFeature	Facial hypertrichosis	Excessive, increased hair growth located in the facial region.	MSH:C565029|UMLS:C1851400	hp.json	Increased facial hair growth	http://purl.obolibrary.org/obo/HP_0002219							
HP:0002220	biolink:PhenotypicFeature	Melanin pigment aggregation in hair shafts		UMLS:C1843390	hp.json		http://purl.obolibrary.org/obo/HP_0002220							
HP:0002221	biolink:PhenotypicFeature	Absent axillary hair	Absence of axillary hair.	UMLS:C1859392	hp.json		http://purl.obolibrary.org/obo/HP_0002221							
HP:0002223	biolink:PhenotypicFeature	Absent eyebrow	Absence of the eyebrow.	SNOMEDCT_US:253208007|SNOMEDCT_US:422441003|UMLS:C0431448|UMLS:C0578682|UMLS:C4280581|UMLS:C4280582	hp.json	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							hposlim_core
HP:0002224	biolink:PhenotypicFeature	Woolly hair	The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.	MEDDRA:10048017|SNOMEDCT_US:52564001|UMLS:C0343073|UMLS:C4072835|UMLS:C4072836|UMLS:C4073292	hp.json	Nappy hair texture|Kinked hair|Afro-textured hair|Kinky hair texture|Wooly hair	http://purl.obolibrary.org/obo/HP_0002224							hposlim_core
HP:0002225	biolink:PhenotypicFeature	Sparse pubic hair	Reduced number or density of pubic hair.	UMLS:C1858573	hp.json	Decreased sexual hair|Sparse pubic hair|sparse to absent pubic hair	http://purl.obolibrary.org/obo/HP_0002225							hposlim_core
HP:0002226	biolink:PhenotypicFeature	White eyebrow	White color (lack of pigmentation) of the eyebrow.	UMLS:C1836737|UMLS:C4280579|UMLS:C4280580	hp.json	Pale eyebrow|White eyebrow|Grey eyebrow|Blonde eyebrow|Depigmented eyebrow|Hypopigmented eyebrow	http://purl.obolibrary.org/obo/HP_0002226							hposlim_core
HP:0002227	biolink:PhenotypicFeature	White eyelashes	White color (lack of pigmentation) of the eyelashes.	UMLS:C1836736|UMLS:C4280578	hp.json	Blonde eyelashes|Pale eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes	http://purl.obolibrary.org/obo/HP_0002227							
HP:0002229	biolink:PhenotypicFeature	obsolete Alopecia areata			hp.json		http://purl.obolibrary.org/obo/HP_0002229							
HP:0002230	biolink:PhenotypicFeature	Generalized hirsutism	Abnormally increased hair growth over much of the entire body.	UMLS:C1849211	hp.json	Excessive hairiness over body|Generalised hirsutism	http://purl.obolibrary.org/obo/HP_0002230							
HP:0002231	biolink:PhenotypicFeature	Sparse body hair	Sparseness of the body hair.	UMLS:C1862863	hp.json	Sparse body hair|Limited body hair|Little body hair|Sparse to absent body hair	http://purl.obolibrary.org/obo/HP_0002231							hposlim_core
HP:0002232	biolink:PhenotypicFeature	Patchy alopecia	Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.	MSH:C531609|MSH:D000506|SNOMEDCT_US:68225006|UMLS:C0002171|UMLS:C1862862	hp.json	Patchy baldness|Alopecia areata	http://purl.obolibrary.org/obo/HP_0002232							
HP:0002234	biolink:PhenotypicFeature	Early balding	Loss of scalp hair at an earlier than normal age.	UMLS:C4025718	hp.json	Early balding	http://purl.obolibrary.org/obo/HP_0002234							
HP:0002235	biolink:PhenotypicFeature	Pili canaliculi	Uncombable hair.	UMLS:C1860608	hp.json		http://purl.obolibrary.org/obo/HP_0002235							
HP:0002236	biolink:PhenotypicFeature	Frontal upsweep of hair	Upward and/or sideward growth of anterior hair.	UMLS:C1185616|UMLS:C2675540|UMLS:C3275754	hp.json	Cowlick|Frontal Cowlick|Frontal upsweep of hair|Upswept frontal hair|Upswept frontal hair pattern|Upswept frontal hairline	http://purl.obolibrary.org/obo/HP_0002236							hposlim_core
HP:0002239	biolink:PhenotypicFeature	Gastrointestinal hemorrhage	Hemorrhage affecting the gastrointestinal tract.	MSH:D006471|SNOMEDCT_US:74474003|UMLS:C0017181	hp.json	GI hemorrhage|Gastrointestinal bleeding|GI haemorrhage|Gastrointestinal haemorrhage	http://purl.obolibrary.org/obo/HP_0002239							
HP:0002240	biolink:PhenotypicFeature	Hepatomegaly	Abnormally increased size of the liver.	MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209	hp.json	Enlarged liver	http://purl.obolibrary.org/obo/HP_0002240							
HP:0002242	biolink:PhenotypicFeature	Abnormal intestine morphology	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.	MSH:D007410|SNOMEDCT_US:85919009|UMLS:C0021831	hp.json	Abnormality of the intestine|Enteropathy	http://purl.obolibrary.org/obo/HP_0002242							
HP:0002243	biolink:PhenotypicFeature	Protein-losing enteropathy	Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.	MSH:D011504|SNOMEDCT_US:22542007|SNOMEDCT_US:66972006|UMLS:C0033680	hp.json		http://purl.obolibrary.org/obo/HP_0002243							
HP:0002244	biolink:PhenotypicFeature	Abnormality of the small intestine	An abnormality of the small intestine.	UMLS:C4025717	hp.json		http://purl.obolibrary.org/obo/HP_0002244							
HP:0002245	biolink:PhenotypicFeature	Meckel diverticulum	Meckel's diverticulum is a congenital diverticulum located in the distal ileum.	MEDDRA:10027055|MSH:D008467|SNOMEDCT_US:127962001|SNOMEDCT_US:37373007|UMLS:C0025037	hp.json		http://purl.obolibrary.org/obo/HP_0002245							
HP:0002246	biolink:PhenotypicFeature	Abnormal duodenum morphology	An abnormality of the duodenum, i.e., the first section of the small intestine.	UMLS:C4025716	hp.json	Abnormality of the duodenum	http://purl.obolibrary.org/obo/HP_0002246							hposlim_core
HP:0002247	biolink:PhenotypicFeature	Duodenal atresia	A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.	Fyler:4406|MEDDRA:10013812|MSH:C535720|SNOMEDCT_US:51118003|UMLS:C0266174	hp.json	Absence or narrowing of first part of small bowel	http://purl.obolibrary.org/obo/HP_0002247							hposlim_core
HP:0002248	biolink:PhenotypicFeature	Hematemesis	The vomiting of blood.	MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926	hp.json	Vomitting blood	http://purl.obolibrary.org/obo/HP_0002248							
HP:0002249	biolink:PhenotypicFeature	Melena	The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.	MSH:D008551|SNOMEDCT_US:249627005|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:2901004|SNOMEDCT_US:35064005|UMLS:C0025222|UMLS:C0474585	hp.json	Black feces|Black faeces	http://purl.obolibrary.org/obo/HP_0002249							
HP:0002250	biolink:PhenotypicFeature	Abnormal large intestine morphology	Any abnormality of the large intestine.	UMLS:C4025715	hp.json	Abnormality of the large intestine	http://purl.obolibrary.org/obo/HP_0002250							
HP:0002251	biolink:PhenotypicFeature	Aganglionic megacolon	An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.	MEDDRA:10027110|MSH:D006627|MSH:D008531|SNOMEDCT_US:204739008|SNOMEDCT_US:33995003|SNOMEDCT_US:367495003|UMLS:C0019569|UMLS:C0025160	hp.json	Enlarged colon lacking nerve cells|Congenital megacolon|Hirschsprung megacolon|Megacolon|Hirschsprung disease	http://purl.obolibrary.org/obo/HP_0002251							hposlim_core
HP:0002253	biolink:PhenotypicFeature	Colonic diverticula	The presence of multiple diverticula of the colon.	MEDDRA:10009993|MSH:D004241|MSH:D043963|SNOMEDCT_US:398050005|UMLS:C0012811|UMLS:C0012819	hp.json	Colonic diverticulosis|Colon diverticula	http://purl.obolibrary.org/obo/HP_0002253							hposlim_core
HP:0002254	biolink:PhenotypicFeature	Intermittent diarrhea	Repeated episodes of diarrhea separated by periods without diarrhea.	UMLS:C0239181	hp.json	Episodic diarrhoea|Intermittent diarrhoea|Episodic diarrhea	http://purl.obolibrary.org/obo/HP_0002254							
HP:0002256	biolink:PhenotypicFeature	Small bowel diverticula		MEDDRA:10013533|SNOMEDCT_US:8114009|UMLS:C0267498	hp.json		http://purl.obolibrary.org/obo/HP_0002256							hposlim_core
HP:0002257	biolink:PhenotypicFeature	Chronic rhinitis	Chronic inflammation of the nasal mucosa.	SNOMEDCT_US:86094006|UMLS:C0008711	hp.json		http://purl.obolibrary.org/obo/HP_0002257							
HP:0002263	biolink:PhenotypicFeature	Exaggerated cupid's bow	More pronounced paramedian peaks and median notch of the Cupid's bow.	UMLS:C1850629	hp.json	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							hposlim_core
HP:0002265	biolink:PhenotypicFeature	Large fleshy ears		UMLS:C3808403	hp.json	Large fleshy ears	http://purl.obolibrary.org/obo/HP_0002265							
HP:0002266	biolink:PhenotypicFeature	Focal clonic seizure	A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.	MSH:D020938|UMLS:C0752323	hp.json	Focal clonic seizures|Localised clonic seizure|Localized clonic seizure|Partial clonic seizure|Segmental clonic seizure	http://purl.obolibrary.org/obo/HP_0002266							
HP:0002267	biolink:PhenotypicFeature	Exaggerated startle response	An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.	MSH:D000071017|SNOMEDCT_US:19557000|UMLS:C0234166|UMLS:C1740801|UMLS:C1836014|UMLS:C1848918	hp.json	Exaggerated acoustic startle response|Increased startle response|Hyperekplexia	http://purl.obolibrary.org/obo/HP_0002267							
HP:0002268	biolink:PhenotypicFeature	Paroxysmal dystonia	A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.	MSH:D004421|SNOMEDCT_US:230310003|UMLS:C0393588	hp.json	Episodic dystonia	http://purl.obolibrary.org/obo/HP_0002268							
HP:0002269	biolink:PhenotypicFeature	Abnormality of neuronal migration	An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.	MSH:D054081|UMLS:C1837249	hp.json	Abnormal neuronal migration|Heterotopias/abnormal migration|Migrational brain disorder|Neuronal migration disorder	http://purl.obolibrary.org/obo/HP_0002269							
HP:0002270	biolink:PhenotypicFeature	Abnormality of the autonomic nervous system	An abnormality of the autonomic nervous system.	UMLS:C4025714	hp.json		http://purl.obolibrary.org/obo/HP_0002270							
HP:0002271	biolink:PhenotypicFeature	obsolete Autonomic dysregulation			hp.json		http://purl.obolibrary.org/obo/HP_0002271							
HP:0002273	biolink:PhenotypicFeature	Tetraparesis	Weakness of all four limbs.	MSH:D011782|SNOMEDCT_US:91327001|UMLS:C0270790	hp.json	Quadriparesis	http://purl.obolibrary.org/obo/HP_0002273							
HP:0002275	biolink:PhenotypicFeature	Poor motor coordination		UMLS:C1848453	hp.json	Poor motor coordination	http://purl.obolibrary.org/obo/HP_0002275							
HP:0002277	biolink:PhenotypicFeature	Horner syndrome	An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.	MSH:D006732|SNOMEDCT_US:12731000|SNOMEDCT_US:192915005|SNOMEDCT_US:271730003|UMLS:C0019937	hp.json	Horner's syndrome|Oculosympathetic palsy	http://purl.obolibrary.org/obo/HP_0002277							
HP:0002280	biolink:PhenotypicFeature	Enlarged cisterna magna	Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.	UMLS:C1853377	hp.json	Large cisterna magna|Mega cisterna magna	http://purl.obolibrary.org/obo/HP_0002280							
HP:0002281	biolink:PhenotypicFeature	obsolete Gray matter heterotopias			hp.json		http://purl.obolibrary.org/obo/HP_0002281							
HP:0002282	biolink:PhenotypicFeature	Gray matter heterotopia	Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.	MSH:D002828|SNOMEDCT_US:128490007|SNOMEDCT_US:416286003|SNOMEDCT_US:417338002|UMLS:C0008519	hp.json	Gray matter heterotopias|Heterotopias|Grey matter heterotopia|Grey matter heterotopias|Heterotopia|Neuronal heterotopia	http://purl.obolibrary.org/obo/HP_0002282							
HP:0002283	biolink:PhenotypicFeature	Global brain atrophy	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.	UMLS:C0241816	hp.json	Generalized brain degeneration|Generalised brain atrophy|Generalised brain degeneration|Generalised cerebral atrophy|Diffuse brain atrophy|Generalized brain atrophy|Generalized cerebral atrophy	http://purl.obolibrary.org/obo/HP_0002283							
HP:0002286	biolink:PhenotypicFeature	Fair hair	A lesser degree of hair pigmentation than would otherwise be expected.	SNOMEDCT_US:297995004|UMLS:C0239801|UMLS:C1849221	hp.json	Blond hair|Fair hair|Fair hair color|Flaxen hair color|Light colored hair|Sandy hair color|Straw colored hair|Towhead (hair color)|Fair hair colour|Flaxen hair colour|Light coloured hair|Sandy hair colour|Straw coloured hair	http://purl.obolibrary.org/obo/HP_0002286							
HP:0002287	biolink:PhenotypicFeature	Progressive alopecia	Progressive loss of hair.	UMLS:C1851885	hp.json		http://purl.obolibrary.org/obo/HP_0002287							
HP:0002289	biolink:PhenotypicFeature	Alopecia universalis	Loss of all hair on the entire body.	MSH:C537055|SNOMEDCT_US:86166000|UMLS:C0263505	hp.json	Alopecia, complete|Universal alopecia	http://purl.obolibrary.org/obo/HP_0002289							
HP:0002290	biolink:PhenotypicFeature	Poliosis	Circumscribed depigmentation of the hair of the head or the eyelashes.	SNOMEDCT_US:14240001|UMLS:C0221262	hp.json	Patch of white hair|White patch	http://purl.obolibrary.org/obo/HP_0002290							
HP:0002292	biolink:PhenotypicFeature	Frontal balding	Absence of hair in the anterior midline and/or parietal areas.	MSH:D000505|SNOMEDCT_US:87872006|UMLS:C1864584|UMLS:C4083212	hp.json	Male pattern baldness|Frontal balding	http://purl.obolibrary.org/obo/HP_0002292							hposlim_core
HP:0002293	biolink:PhenotypicFeature	Alopecia of scalp		MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:298000004|SNOMEDCT_US:56317004|UMLS:C0002170|UMLS:C0574769|UMLS:C1850535	hp.json	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	biolink:PhenotypicFeature	Progressive hypotrichosis	Progressively reduced or lacking hair growth.	UMLS:C1857048	hp.json		http://purl.obolibrary.org/obo/HP_0002296							
HP:0002297	biolink:PhenotypicFeature	Red hair		SNOMEDCT_US:297997007|UMLS:C0239803	hp.json	Ginger hair color|Ginger hair colour|Red hair|Red hair color|Red head (hair color)|Red hair colour	http://purl.obolibrary.org/obo/HP_0002297							
HP:0002298	biolink:PhenotypicFeature	Absent hair		SNOMEDCT_US:297991008|UMLS:C0574763	hp.json	Absent hair	http://purl.obolibrary.org/obo/HP_0002298							
HP:0002299	biolink:PhenotypicFeature	Brittle hair	Fragile, easily breakable hair, i.e., with reduced tensile strength.	SNOMEDCT_US:25159003|UMLS:C0263490|UMLS:C1851868|UMLS:C1970705|UMLS:C4072837	hp.json	Easily breakable hair|Fractured hair|Fragile hair|Reduced tensile strength of hair|Brittle hair	http://purl.obolibrary.org/obo/HP_0002299							
HP:0002300	biolink:PhenotypicFeature	Mutism		MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884	hp.json	Inability to speak|Muteness	http://purl.obolibrary.org/obo/HP_0002300							
HP:0002301	biolink:PhenotypicFeature	Hemiplegia	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.	MSH:D006429|SNOMEDCT_US:50582007|UMLS:C0018991	hp.json	Paralysis on one side of body	http://purl.obolibrary.org/obo/HP_0002301							
HP:0002304	biolink:PhenotypicFeature	Akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.	SNOMEDCT_US:33994004|UMLS:C0085623	hp.json		http://purl.obolibrary.org/obo/HP_0002304							
HP:0002305	biolink:PhenotypicFeature	Athetosis	A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.	MSH:D001264|SNOMEDCT_US:44913001|SNOMEDCT_US:58593005|UMLS:C0004158|UMLS:C1845265	hp.json	Involuntary writhing movements in fingers, hands, toes, and feet|Athetoid movements|Involuntary writhing movements	http://purl.obolibrary.org/obo/HP_0002305							
HP:0002307	biolink:PhenotypicFeature	Drooling	Habitual flow of saliva out of the mouth.	MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|UMLS:C0013132|UMLS:C0037036	hp.json	Dribbling|Drooling|Sialorrhea	http://purl.obolibrary.org/obo/HP_0002307							
HP:0002308	biolink:PhenotypicFeature	Arnold-Chiari malformation	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.	MSH:D001139|SNOMEDCT_US:253184003|UMLS:C0003803	hp.json	Chiari malformation	http://purl.obolibrary.org/obo/HP_0002308							
HP:0002310	biolink:PhenotypicFeature	Orofacial dyskinesia		MSH:D020820|SNOMEDCT_US:49386006|UMLS:C0152115	hp.json	Orofacial dyskinesias	http://purl.obolibrary.org/obo/HP_0002310							
HP:0002311	biolink:PhenotypicFeature	Incoordination		MSH:D001259|SNOMEDCT_US:281016006|SNOMEDCT_US:302289002|UMLS:C0520966	hp.json	Difficulties in coordination|Incoordination|Incoordination of limb movements|Limb incoordination	http://purl.obolibrary.org/obo/HP_0002311							
HP:0002312	biolink:PhenotypicFeature	Clumsiness	Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.	SNOMEDCT_US:7006003|UMLS:C0233844	hp.json	Clumsiness	http://purl.obolibrary.org/obo/HP_0002312							
HP:0002313	biolink:PhenotypicFeature	Spastic paraparesis		MSH:D020336|SNOMEDCT_US:312444006|UMLS:C0037771	hp.json		http://purl.obolibrary.org/obo/HP_0002313							
HP:0002314	biolink:PhenotypicFeature	Degeneration of the lateral corticospinal tracts	Deterioration of the tissues of the lateral corticospinal tracts.	UMLS:C1846566	hp.json	Degeneration of lateral corticospinal tracts	http://purl.obolibrary.org/obo/HP_0002314							
HP:0002315	biolink:PhenotypicFeature	Headache	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.	MSH:D006261|SNOMEDCT_US:25064002|UMLS:C0018681	hp.json	Headache|Headaches	http://purl.obolibrary.org/obo/HP_0002315							
HP:0002317	biolink:PhenotypicFeature	Unsteady gait		MSH:D020233|SNOMEDCT_US:22631008|SNOMEDCT_US:394616008|UMLS:C0231686	hp.json	Unsteady walk|Gait instability	http://purl.obolibrary.org/obo/HP_0002317							
HP:0002318	biolink:PhenotypicFeature	Cervical myelopathy		SNOMEDCT_US:202664003|UMLS:C0149645	hp.json		http://purl.obolibrary.org/obo/HP_0002318							
HP:0002321	biolink:PhenotypicFeature	Vertigo	An abnormal sensation of spinning while the body is actually stationary.	MSH:D004244|MSH:D014717|SNOMEDCT_US:271789005|SNOMEDCT_US:399090003|SNOMEDCT_US:399153001|SNOMEDCT_US:404640003|UMLS:C0012833|UMLS:C0042571	hp.json	Dizzy spell|Dizziness	http://purl.obolibrary.org/obo/HP_0002321							
HP:0002322	biolink:PhenotypicFeature	Resting tremor	A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.	MSH:D014202|SNOMEDCT_US:25082004|UMLS:C0234379	hp.json	Resting tremor|Tremor at rest|Rest tremor|Parkinsonian tremor	http://purl.obolibrary.org/obo/HP_0002322							
HP:0002323	biolink:PhenotypicFeature	Anencephaly	Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.	Fyler:4332|MSH:D000757|SNOMEDCT_US:89369001|UMLS:C0002902	hp.json	Foetal anencephaly|Embryonic anencephaly|Fetal anencephaly	http://purl.obolibrary.org/obo/HP_0002323							
HP:0002324	biolink:PhenotypicFeature	Hydranencephaly	A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.	MSH:D006832|SNOMEDCT_US:30023002|UMLS:C0020225	hp.json	Hydrancephaly	http://purl.obolibrary.org/obo/HP_0002324							
HP:0002326	biolink:PhenotypicFeature	Transient ischemic attack		MSH:D002546|UMLS:C0917805	hp.json	TIA|Mini stroke|Transient ischaemic attack|Transient ischaemic attacks|Transient ischemic attacks	http://purl.obolibrary.org/obo/HP_0002326							
HP:0002329	biolink:PhenotypicFeature	Drowsiness	Excessive daytime sleepiness.	MSH:D012894|SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C0013144	hp.json	Drowsiness|Sleepy	http://purl.obolibrary.org/obo/HP_0002329							
HP:0002330	biolink:PhenotypicFeature	Paroxysmal drowsiness	Attacks of disabling daytime drowsiness and low alertness.	UMLS:C4025713	hp.json		http://purl.obolibrary.org/obo/HP_0002330							
HP:0002331	biolink:PhenotypicFeature	Recurrent paroxysmal headache	Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.	UMLS:C1854337	hp.json		http://purl.obolibrary.org/obo/HP_0002331							
HP:0002332	biolink:PhenotypicFeature	Lack of peer relationships		UMLS:C1845337	hp.json	Lack of peer relationships	http://purl.obolibrary.org/obo/HP_0002332							
HP:0002333	biolink:PhenotypicFeature	Motor deterioration	Loss of previously present motor (i.e., movement) abilities.	UMLS:C1866284	hp.json	Progressive degeneration of movement	http://purl.obolibrary.org/obo/HP_0002333							
HP:0002334	biolink:PhenotypicFeature	Abnormal cerebellar vermis morphology	An anomaly of the vermis of cerebellum.	UMLS:C4025712	hp.json	Abnormality of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0002334							
HP:0002335	biolink:PhenotypicFeature	Agenesis of cerebellar vermis	Congenital absence of the vermis of cerebellum.	MSH:C536293|SNOMEDCT_US:253175003|SNOMEDCT_US:716997004|UMLS:C0431399	hp.json	Cerebellar vermis aplasia|Vermian agenesis	http://purl.obolibrary.org/obo/HP_0002335							
HP:0002339	biolink:PhenotypicFeature	Abnormal caudate nucleus morphology	Any structural abnormality of the caudate nucleus.	UMLS:C4025711	hp.json	Abnormality of the caudate nucleus	http://purl.obolibrary.org/obo/HP_0002339							
HP:0002340	biolink:PhenotypicFeature	Caudate atrophy		UMLS:C1858116	hp.json	Caudate degeneration	http://purl.obolibrary.org/obo/HP_0002340							
HP:0002341	biolink:PhenotypicFeature	Cervical cord compression	Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.	UMLS:C0852866	hp.json	Cervical cord compression myelopathy	http://purl.obolibrary.org/obo/HP_0002341							
HP:0002342	biolink:PhenotypicFeature	Intellectual disability, moderate	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.	SNOMEDCT_US:61152003|UMLS:C0026351	hp.json	IQ between 34 and 49|Mental retardation, moderate|Moderate mental deficiency|Moderate mental retardation	http://purl.obolibrary.org/obo/HP_0002342							
HP:0002343	biolink:PhenotypicFeature	Normal pressure hydrocephalus	A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.	MSH:D006850|SNOMEDCT_US:30753002|UMLS:C0020258	hp.json	Normal-pressure hydrocephalus	http://purl.obolibrary.org/obo/HP_0002343							
HP:0002344	biolink:PhenotypicFeature	Progressive neurologic deterioration		UMLS:C1854838	hp.json	Worsening neurological symptoms|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Progressive neurodegeneration	http://purl.obolibrary.org/obo/HP_0002344							
HP:0002345	biolink:PhenotypicFeature	Action tremor	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.	MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020853	hp.json	Ataxic tremor	http://purl.obolibrary.org/obo/HP_0002345							
HP:0002346	biolink:PhenotypicFeature	Head tremor	An unintentional, oscillating to-and-fro muscle movement affecting head movement.	UMLS:C0239882	hp.json	Head tremor	http://purl.obolibrary.org/obo/HP_0002346							
HP:0002349	biolink:PhenotypicFeature	Focal aware seizure	A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.	MSH:D004828|SNOMEDCT_US:117891000119100|SNOMEDCT_US:79348005|UMLS:C0234974	hp.json	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							
HP:0002350	biolink:PhenotypicFeature	Cerebellar cyst		UMLS:C1847762	hp.json	Cerebellar cysts	http://purl.obolibrary.org/obo/HP_0002350							
HP:0002352	biolink:PhenotypicFeature	Leukoencephalopathy	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.	MSH:D056784|SNOMEDCT_US:22811006|UMLS:C0270612	hp.json		http://purl.obolibrary.org/obo/HP_0002352							
HP:0002353	biolink:PhenotypicFeature	EEG abnormality	Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.	SNOMEDCT_US:274521009|UMLS:C0151611	hp.json	Abnormal EEG|EEG abnormalities|Abnormal electroencephalogram|Electroencephalogram abnormal|Electroencephalogram abnormalities	http://purl.obolibrary.org/obo/HP_0002353							
HP:0002354	biolink:PhenotypicFeature	Memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.	MSH:D008569|SNOMEDCT_US:386807006|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295	hp.json	Forgetfulness|Memory impairment|Memory loss|Memory problems|Poor memory	http://purl.obolibrary.org/obo/HP_0002354							
HP:0002355	biolink:PhenotypicFeature	Difficulty walking	Reduced ability to walk (ambulate).	MSH:D051346|SNOMEDCT_US:228158008|UMLS:C0311394	hp.json	Difficulty in walking|Difficulty walking|Walking disability	http://purl.obolibrary.org/obo/HP_0002355							
HP:0002356	biolink:PhenotypicFeature	Writer's cramp	A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.	MSH:D020821|SNOMEDCT_US:52008007|UMLS:C0154676	hp.json	Writer's cramp	http://purl.obolibrary.org/obo/HP_0002356							
HP:0002357	biolink:PhenotypicFeature	Dysphasia		MSH:D001037|SNOMEDCT_US:20301004|UMLS:C0973461	hp.json		http://purl.obolibrary.org/obo/HP_0002357							
HP:0002359	biolink:PhenotypicFeature	Frequent falls		UMLS:C0850703	hp.json	Frequent falls	http://purl.obolibrary.org/obo/HP_0002359							
HP:0002360	biolink:PhenotypicFeature	Sleep disturbance	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.	SNOMEDCT_US:53888004|UMLS:C0037317	hp.json	Difficulty sleeping|Trouble sleeping|Sleep disturbances|Sleep dysfunction	http://purl.obolibrary.org/obo/HP_0002360							
HP:0002361	biolink:PhenotypicFeature	Psychomotor deterioration	Loss of previously present mental and motor abilities.	UMLS:C1836842	hp.json	Psychomotor degeneration	http://purl.obolibrary.org/obo/HP_0002361							
HP:0002362	biolink:PhenotypicFeature	Shuffling gait	A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.	MSH:D020233|SNOMEDCT_US:43005009|UMLS:C0231688	hp.json	Shuffled walk	http://purl.obolibrary.org/obo/HP_0002362							
HP:0002363	biolink:PhenotypicFeature	Abnormal brainstem morphology	An anomaly of the brainstem.	UMLS:C1850601	hp.json	Abnormal shape of brainstem|Abnormality of brainstem morphology|Abnormality of the brainstem	http://purl.obolibrary.org/obo/HP_0002363							
HP:0002365	biolink:PhenotypicFeature	Hypoplasia of the brainstem	Underdevelopment of the brainstem.	UMLS:C1842688	hp.json	Small brainstem|Underdeveloped brainstem|Brainstem hypoplasia|Hypoplastic brain stem|Hypoplastic brainstem	http://purl.obolibrary.org/obo/HP_0002365							
HP:0002366	biolink:PhenotypicFeature	Abnormal lower motor neuron morphology	Any structural anomaly of the lower motor neuron.	UMLS:C1865412	hp.json	Lower motor neuron disease|Lower motor neuron manifestations|Lower motor neuron signs	http://purl.obolibrary.org/obo/HP_0002366							
HP:0002367	biolink:PhenotypicFeature	Visual hallucinations	Visual perceptions that are not elicited by a corresponding stimulus from the outside world.	MSH:D006212|SNOMEDCT_US:64269007|UMLS:C0233763	hp.json	Visual hallucinations	http://purl.obolibrary.org/obo/HP_0002367							
HP:0002370	biolink:PhenotypicFeature	Poor coordination		UMLS:C0563243	hp.json	Poor coordination	http://purl.obolibrary.org/obo/HP_0002370							
HP:0002371	biolink:PhenotypicFeature	Loss of speech		UMLS:C0542223	hp.json	Loss of speech	http://purl.obolibrary.org/obo/HP_0002371							
HP:0002372	biolink:PhenotypicFeature	Normal interictal EEG	Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.	UMLS:C1843146	hp.json		http://purl.obolibrary.org/obo/HP_0002372							
HP:0002373	biolink:PhenotypicFeature	Febrile seizure (within the age range of 3 months to 6 years)	A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.	MSH:D003294|SNOMEDCT_US:41497008|UMLS:C0009952	hp.json	Fever induced seizures|Febrile seizures|Febrile convulsion|Seizures, febrile, in early childhood|Seizures, generalized, associated with fever	http://purl.obolibrary.org/obo/HP_0002373							
HP:0002374	biolink:PhenotypicFeature	Diminished movement		UMLS:C4025710	hp.json	Diminished movement	http://purl.obolibrary.org/obo/HP_0002374							
HP:0002375	biolink:PhenotypicFeature	Hypokinesia	Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.	MSH:D018476|SNOMEDCT_US:255385008|SNOMEDCT_US:43994002|UMLS:C0086439	hp.json	Decreased muscle movement|Decreased spontaneous movement|Decreased spontaneous movements	http://purl.obolibrary.org/obo/HP_0002375							
HP:0002376	biolink:PhenotypicFeature	Developmental regression	Loss of developmental skills, as manifested by loss of developmental milestones.	SNOMEDCT_US:609225004|UMLS:C1836550|UMLS:C1836830|UMLS:C1850493|UMLS:C1855009|UMLS:C1855019|UMLS:C1855996|UMLS:C1857121|UMLS:C1859678	hp.json	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							
HP:0002377	biolink:PhenotypicFeature	obsolete Paraganglioma-related cranial nerve palsy			hp.json		http://purl.obolibrary.org/obo/HP_0002377							
HP:0002378	biolink:PhenotypicFeature	Hand tremor	An unintentional, oscillating to-and-fro muscle movement affecting the hand.	UMLS:C0239842	hp.json	Hand tremor|Tremor of hand|Tremor of hands|tremors in hands	http://purl.obolibrary.org/obo/HP_0002378							
HP:0002380	biolink:PhenotypicFeature	Fasciculations	Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.	MSH:D005207|SNOMEDCT_US:82470000|UMLS:C0015644	hp.json	Muscle twitch|Fasciculation|Muscle fasciculation	http://purl.obolibrary.org/obo/HP_0002380							
HP:0002381	biolink:PhenotypicFeature	Aphasia	An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.	MSH:D001037|SNOMEDCT_US:87486003|UMLS:C0003537	hp.json	Difficulty finding words|Losing words|Loss of words	http://purl.obolibrary.org/obo/HP_0002381							
HP:0002383	biolink:PhenotypicFeature	Encephalitis		MSH:D004660|SNOMEDCT_US:45170000|UMLS:C0014038	hp.json	Brain inflammation	http://purl.obolibrary.org/obo/HP_0002383							
HP:0002384	biolink:PhenotypicFeature	Focal impaired awareness seizure	Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.	SNOMEDCT_US:4103001|UMLS:C0149958|UMLS:C0270834	hp.json	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							
HP:0002385	biolink:PhenotypicFeature	Paraparesis	Weakness or partial paralysis in the lower limbs.	MSH:D020335|SNOMEDCT_US:1845001|UMLS:C0221166	hp.json	Partial paralysis of legs	http://purl.obolibrary.org/obo/HP_0002385							
HP:0002389	biolink:PhenotypicFeature	Cavum septum pellucidum	If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.	UMLS:C1840380	hp.json	Large cavum septi pellucidi|Persistent cavum septum pellucidum|Widened cavum septum pellucidum	http://purl.obolibrary.org/obo/HP_0002389							
HP:0002390	biolink:PhenotypicFeature	Spinal arteriovenous malformation		SNOMEDCT_US:261482004|UMLS:C0348023	hp.json		http://purl.obolibrary.org/obo/HP_0002390							
HP:0002392	biolink:PhenotypicFeature	EEG with polyspike wave complexes	The presence of complexes of repetitive spikes and waves in EEG.	UMLS:C4021757	hp.json	EEG: spike and multispike waves, 3-4 hz	http://purl.obolibrary.org/obo/HP_0002392							
HP:0002395	biolink:PhenotypicFeature	Lower limb hyperreflexia		UMLS:C1836696	hp.json	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	biolink:PhenotypicFeature	Cogwheel rigidity	A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).	MSH:D009127|SNOMEDCT_US:55630000|UMLS:C0151564	hp.json		http://purl.obolibrary.org/obo/HP_0002396							
HP:0002398	biolink:PhenotypicFeature	Degeneration of anterior horn cells		UMLS:C1843505	hp.json	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	biolink:PhenotypicFeature	Stroke-like episode	No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.	UMLS:C1857287	hp.json	Stroke-like episodes|Strokelike episodes	http://purl.obolibrary.org/obo/HP_0002401							
HP:0002403	biolink:PhenotypicFeature	Positive Romberg sign	The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.	SNOMEDCT_US:298310004|UMLS:C0240914	hp.json		http://purl.obolibrary.org/obo/HP_0002403							
HP:0002404	biolink:PhenotypicFeature	Thickened superior cerebellar peduncle	Increased width of the superior cerebellar peduncle.	UMLS:C4021756	hp.json	Thick cerebellar peduncles	http://purl.obolibrary.org/obo/HP_0002404							
HP:0002406	biolink:PhenotypicFeature	Limb dysmetria	A type of dysmetria involving the limbs.	UMLS:C1854489|UMLS:C4280577	hp.json	Uncoordinated limb movement	http://purl.obolibrary.org/obo/HP_0002406							
HP:0002408	biolink:PhenotypicFeature	Cerebral arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.	Fyler:2201|MSH:D002538|SNOMEDCT_US:234142008|UMLS:C0917804	hp.json	Cerebral AV malformation	http://purl.obolibrary.org/obo/HP_0002408							
HP:0002410	biolink:PhenotypicFeature	Aqueductal stenosis	Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.	MSH:D006849|UMLS:C2936786	hp.json	Aqueduct of Sylvius stenosis|Aqueduct stenosis|Narrowing of aqueduct of Sylvius	http://purl.obolibrary.org/obo/HP_0002410							
HP:0002411	biolink:PhenotypicFeature	Myokymia	Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.	MSH:D020385|SNOMEDCT_US:27678003|UMLS:C0684219	hp.json		http://purl.obolibrary.org/obo/HP_0002411							
HP:0002414	biolink:PhenotypicFeature	Spina bifida	Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.	Fyler:4157|MSH:D016135|SNOMEDCT_US:67531005|UMLS:C0080178	hp.json	Split spine	http://purl.obolibrary.org/obo/HP_0002414							
HP:0002415	biolink:PhenotypicFeature	Leukodystrophy	Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.	SNOMEDCT_US:192781003|UMLS:C0023520	hp.json	Degeneration of white matter of brain	http://purl.obolibrary.org/obo/HP_0002415							
HP:0002416	biolink:PhenotypicFeature	Subependymal cysts	Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.	UMLS:C1833431	hp.json		http://purl.obolibrary.org/obo/HP_0002416							
HP:0002418	biolink:PhenotypicFeature	Abnormal midbrain morphology	An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.	UMLS:C4021755	hp.json	Abnormal shape of midbrain|Abnormality of the midbrain|Abnormality of midbrain morphology|Abnormality of the mesencephalon	http://purl.obolibrary.org/obo/HP_0002418							
HP:0002419	biolink:PhenotypicFeature	Molar tooth sign on MRI	An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.	UMLS:C1865060	hp.json	'molar tooth sign' on brain imaging'|'molar tooth' sign on imaging|Molar tooth sign	http://purl.obolibrary.org/obo/HP_0002419							
HP:0002421	biolink:PhenotypicFeature	Poor head control	Difficulty to maintain correct position of the head while standing or sitting.	UMLS:C1836038	hp.json	Poor head control	http://purl.obolibrary.org/obo/HP_0002421							
HP:0002423	biolink:PhenotypicFeature	Long-tract signs		UMLS:C1865903	hp.json	Long tract signs	http://purl.obolibrary.org/obo/HP_0002423							
HP:0002425	biolink:PhenotypicFeature	Anarthria	A defect in the motor ability that enables speech.	SNOMEDCT_US:48257004|UMLS:C0234517	hp.json	Loss of articulate speech	http://purl.obolibrary.org/obo/HP_0002425							
HP:0002427	biolink:PhenotypicFeature	Expressive aphasia	Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.	MSH:D001039|SNOMEDCT_US:229654003|SNOMEDCT_US:229665008|SNOMEDCT_US:328681008|UMLS:C0003550|UMLS:C0917814	hp.json	Loss of expressive speech|Non-fluent aphasia|Broca's aphasia|Motor aphasia	http://purl.obolibrary.org/obo/HP_0002427							
HP:0002435	biolink:PhenotypicFeature	Meningocele	Protrusion of the meninges through a defect of the vertebral column.	MSH:D008588|SNOMEDCT_US:171131006|UMLS:C0025299	hp.json		http://purl.obolibrary.org/obo/HP_0002435							
HP:0002436	biolink:PhenotypicFeature	Occipital meningocele	A herniation of meninges through a congenital bone defect in the skull in the occipital region.	SNOMEDCT_US:445468002|UMLS:C1848652	hp.json		http://purl.obolibrary.org/obo/HP_0002436							
HP:0002438	biolink:PhenotypicFeature	Cerebellar malformation		UMLS:C4025708	hp.json		http://purl.obolibrary.org/obo/HP_0002438							
HP:0002439	biolink:PhenotypicFeature	Frontolimbic dementia		UMLS:C1836151	hp.json		http://purl.obolibrary.org/obo/HP_0002439							
HP:0002442	biolink:PhenotypicFeature	Dyscalculia	A specific learning disability involving mathematics and arithmetic.	SNOMEDCT_US:47916000|UMLS:C1411876|UMLS:C4280576	hp.json	Difficulty making arithmetical calculations	http://purl.obolibrary.org/obo/HP_0002442							
HP:0002444	biolink:PhenotypicFeature	Hypothalamic hamartoma	The presence of a hamartoma of the hypothalamus.	MSH:C537158|SNOMEDCT_US:237714006|UMLS:C0342418	hp.json		http://purl.obolibrary.org/obo/HP_0002444							
HP:0002445	biolink:PhenotypicFeature	Tetraplegia	Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.	MSH:D011782|SNOMEDCT_US:11538006|UMLS:C0034372	hp.json	Paralysis of all four limbs|Quadriplegia	http://purl.obolibrary.org/obo/HP_0002445							
HP:0002446	biolink:PhenotypicFeature	Astrocytosis	Proliferation of astrocytes in the area of a lesion of the central nervous system.	MSH:D005911|SNOMEDCT_US:81415000|UMLS:C3887640	hp.json	Increase in astrocyte number	http://purl.obolibrary.org/obo/HP_0002446							
HP:0002448	biolink:PhenotypicFeature	Progressive encephalopathy		UMLS:C1838578|UMLS:C4280575	hp.json	Progressive brain disease	http://purl.obolibrary.org/obo/HP_0002448							
HP:0002450	biolink:PhenotypicFeature	Abnormal motor neuron morphology	Any structural anomaly that affects the motor neuron.	UMLS:C4025707	hp.json	Abnormal shape of motor neuron	http://purl.obolibrary.org/obo/HP_0002450							
HP:0002451	biolink:PhenotypicFeature	Limb dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.	MSH:D004421|UMLS:C0751093	hp.json		http://purl.obolibrary.org/obo/HP_0002451							
HP:0002453	biolink:PhenotypicFeature	Abnormal globus pallidus morphology	An abnormality of the globus pallidus.	UMLS:C4025706	hp.json		http://purl.obolibrary.org/obo/HP_0002453							
HP:0002454	biolink:PhenotypicFeature	Eye of the tiger anomaly of globus pallidus	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.	UMLS:C4025705	hp.json		http://purl.obolibrary.org/obo/HP_0002454							
HP:0002457	biolink:PhenotypicFeature	Abnormal head movements		SNOMEDCT_US:271799000|UMLS:C0476217	hp.json	Abnormal head movements	http://purl.obolibrary.org/obo/HP_0002457							
HP:0002459	biolink:PhenotypicFeature	obsolete Dysautonomia			hp.json		http://purl.obolibrary.org/obo/HP_0002459							
HP:0002460	biolink:PhenotypicFeature	Distal muscle weakness	Reduced strength of the musculature of the distal extremities.	SNOMEDCT_US:249942005|UMLS:C0427065|UMLS:C1864696	hp.json	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							
HP:0002461	biolink:PhenotypicFeature	Dense calcifications in the cerebellar dentate nucleus		UMLS:C1859273	hp.json		http://purl.obolibrary.org/obo/HP_0002461							
HP:0002463	biolink:PhenotypicFeature	Language impairment	Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.	MSH:D007806|SNOMEDCT_US:62305002|UMLS:C0023015	hp.json	Language impairment|Language disorder	http://purl.obolibrary.org/obo/HP_0002463							
HP:0002464	biolink:PhenotypicFeature	Spastic dysarthria	A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.	MSH:D004401|SNOMEDCT_US:229684006|UMLS:C0454596	hp.json	Rigid dysarthria	http://purl.obolibrary.org/obo/HP_0002464							
HP:0002465	biolink:PhenotypicFeature	Poor speech		UMLS:C1848207|UMLS:C4280574	hp.json	Problems speaking|Poor speech|Difficulty speaking	http://purl.obolibrary.org/obo/HP_0002465							
HP:0002470	biolink:PhenotypicFeature	Nonprogressive cerebellar ataxia		UMLS:C1845029	hp.json		http://purl.obolibrary.org/obo/HP_0002470							
HP:0002472	biolink:PhenotypicFeature	Small cerebral cortex	Reduced size of the cerebral cortex.	UMLS:C1837503	hp.json	Decreased volume of cerebral cortex	http://purl.obolibrary.org/obo/HP_0002472							
HP:0002474	biolink:PhenotypicFeature	Expressive language delay	A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	SNOMEDCT_US:229734008|UMLS:C0454641|UMLS:C1847610|UMLS:C4280573	hp.json	Communication delay|Deficit in expressive language	http://purl.obolibrary.org/obo/HP_0002474							
HP:0002475	biolink:PhenotypicFeature	Myelomeningocele	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.	Fyler:4309|MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312	hp.json	Meningomyelocele|Spina bifida cystica	http://purl.obolibrary.org/obo/HP_0002475							
HP:0002476	biolink:PhenotypicFeature	Primitive reflex	The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.	UMLS:C1838319	hp.json	Archaic reflex|Primitive reflexes	http://purl.obolibrary.org/obo/HP_0002476							
HP:0002478	biolink:PhenotypicFeature	Progressive spastic quadriplegia		UMLS:C1859736	hp.json	Progressive spastic quadriparesis	http://purl.obolibrary.org/obo/HP_0002478							
HP:0002480	biolink:PhenotypicFeature	Hepatic encephalopathy	Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.	MSH:D006501|SNOMEDCT_US:13920009|SNOMEDCT_US:449902003|UMLS:C0019151	hp.json		http://purl.obolibrary.org/obo/HP_0002480							
HP:0002483	biolink:PhenotypicFeature	Bulbar signs		UMLS:C1856507	hp.json		http://purl.obolibrary.org/obo/HP_0002483							
HP:0002486	biolink:PhenotypicFeature	Myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.	MSH:D009222|SNOMEDCT_US:3434004|UMLS:C0027125	hp.json	Delayed relaxation of muscle fibres after contraction|Delayed relaxation of muscle fibers after contraction	http://purl.obolibrary.org/obo/HP_0002486							
HP:0002487	biolink:PhenotypicFeature	Hyperkinetic movements	Motor hyperactivity with excessive movement of muscles of the body as a whole.	MSH:D006948|MSH:D013035|SNOMEDCT_US:44548000|SNOMEDCT_US:45352006|UMLS:C0037763|UMLS:C0424295	hp.json	Muscle spasms|Hyperkinesia|Hyperkinesis	http://purl.obolibrary.org/obo/HP_0002487							
HP:0002488	biolink:PhenotypicFeature	Acute leukemia	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	SNOMEDCT_US:24072005|SNOMEDCT_US:91855006|UMLS:C0085669|UMLS:C4280572	hp.json	Acute blood cancer|Acute leukaemia|Acute leukemias	http://purl.obolibrary.org/obo/HP_0002488							
HP:0002490	biolink:PhenotypicFeature	Increased CSF lactate	Increased concentration of lactate in the cerebrospinal fluid.	UMLS:C1167918	hp.json	Hyperlactatorachia|Increased CSF lactic acid|Increased cerebrospinal fluid lactate	http://purl.obolibrary.org/obo/HP_0002490							
HP:0002491	biolink:PhenotypicFeature	Spasticity of facial muscles	Spasticity of one or more muscles innervated by the facial nerve.	UMLS:C1853404|UMLS:C4280570|UMLS:C4280571	hp.json	Increased stiffness of facial muscles|Increased tone of facial muscles|Spasticity of the facial muscles	http://purl.obolibrary.org/obo/HP_0002491							
HP:0002492	biolink:PhenotypicFeature	Morphological abnormality of the corticospinal tract	Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.	UMLS:C4020852|UMLS:C4025704	hp.json	Abnormality of the corticospinal tract|Involvement of the corticospinal pathways	http://purl.obolibrary.org/obo/HP_0002492							
HP:0002493	biolink:PhenotypicFeature	Upper motor neuron dysfunction	A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.	UMLS:C1504405|UMLS:C1839042	hp.json	Corticospinal tract dysfunction|Pyramidal tract dysfunction	http://purl.obolibrary.org/obo/HP_0002493							
HP:0002494	biolink:PhenotypicFeature	Abnormal rapid eye movement sleep	Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.	SNOMEDCT_US:69020003|UMLS:C0392188	hp.json	Abnormal REM sleep	http://purl.obolibrary.org/obo/HP_0002494							
HP:0002495	biolink:PhenotypicFeature	Impaired vibratory sensation	A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.	SNOMEDCT_US:130980003|UMLS:C1295585	hp.json	Decreased vibration sense|Decreased vibratory sense|Diminished vibratory sense|Impaired vibratory sensation|Impaired vibratory sense|Hypopallesthesia	http://purl.obolibrary.org/obo/HP_0002495							
HP:0002497	biolink:PhenotypicFeature	Spastic ataxia		MSH:C564815|UMLS:C1849156	hp.json		http://purl.obolibrary.org/obo/HP_0002497							
HP:0002500	biolink:PhenotypicFeature	Abnormal cerebral white matter morphology	An abnormality of the cerebral white matter.	MSH:D049292|UMLS:C0948163|UMLS:C4020851	hp.json	Abnormality of subcortical white matter|Abnormality of the cerebral 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							
HP:0002501	biolink:PhenotypicFeature	Spasticity of pharyngeal muscles		UMLS:C1853398	hp.json		http://purl.obolibrary.org/obo/HP_0002501							
HP:0002503	biolink:PhenotypicFeature	Spinocerebellar tract degeneration		UMLS:C1866751	hp.json	Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration	http://purl.obolibrary.org/obo/HP_0002503							
HP:0002504	biolink:PhenotypicFeature	Calcification of the small brain vessels	Deposition of calcium salts within small blood vessels of the brain.	UMLS:C4025703	hp.json		http://purl.obolibrary.org/obo/HP_0002504							
HP:0002505	biolink:PhenotypicFeature	Progressive inability to walk		UMLS:C1836843	hp.json	Progressive inability to walk	http://purl.obolibrary.org/obo/HP_0002505							
HP:0002506	biolink:PhenotypicFeature	Diffuse cerebral atrophy	Diffuse unlocalised atrophy affecting the cerebrum.	UMLS:C0598275	hp.json	Cerebral atrophy, diffuse	http://purl.obolibrary.org/obo/HP_0002506							
HP:0002507	biolink:PhenotypicFeature	Semilobar holoprosencephaly	A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	MSH:D016142|SNOMEDCT_US:253138008|UMLS:C0751617	hp.json		http://purl.obolibrary.org/obo/HP_0002507							
HP:0002508	biolink:PhenotypicFeature	Brainstem dysplasia	A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.	UMLS:C1855677	hp.json	Brainstem hypoplasia/dysplasia|Malformation of brainstem structures	http://purl.obolibrary.org/obo/HP_0002508							
HP:0002509	biolink:PhenotypicFeature	Limb hypertonia		UMLS:C1838391	hp.json	Increased muscle tone of arm or leg	http://purl.obolibrary.org/obo/HP_0002509							
HP:0002510	biolink:PhenotypicFeature	Spastic tetraplegia	Spastic paralysis affecting all four limbs.	MSH:D011782|SNOMEDCT_US:192965001|UMLS:C0426970	hp.json	Spastic quadriplegia	http://purl.obolibrary.org/obo/HP_0002510							
HP:0002511	biolink:PhenotypicFeature	Alzheimer disease	A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.	DOID:10652|MONDO:0004975|MSH:C536595|MSH:D000544|SNOMEDCT_US:230267005|SNOMEDCT_US:26929004|UMLS:C0002395|UMLS:C1863051	hp.json	Alzheimer disease|Late-onset form of familial Alzheimer disease	http://purl.obolibrary.org/obo/HP_0002511							
HP:0002512	biolink:PhenotypicFeature	Brain stem compression		SNOMEDCT_US:25816005|SNOMEDCT_US:5582005|UMLS:C0270680	hp.json		http://purl.obolibrary.org/obo/HP_0002512							
HP:0002514	biolink:PhenotypicFeature	Cerebral calcification	The presence of calcium deposition within brain structures.	SNOMEDCT_US:17944005|UMLS:C0270685	hp.json	Abnormal deposits of calcium in the brain|Brain calcification|Intracerebral calcifications|Intracranial calcification|Intracranial calcifications	http://purl.obolibrary.org/obo/HP_0002514							
HP:0002515	biolink:PhenotypicFeature	Waddling gait	Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.	MSH:D020233|SNOMEDCT_US:271706000|UMLS:C0231712	hp.json	'Waddling' gait|Waddling walk	http://purl.obolibrary.org/obo/HP_0002515							
HP:0002516	biolink:PhenotypicFeature	Increased intracranial pressure	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.	MSH:D019586|SNOMEDCT_US:271719001|UMLS:C0151740	hp.json	Rise in pressure inside skull|Intracranial hypertension|Intracranial pressure elevation	http://purl.obolibrary.org/obo/HP_0002516							
HP:0002518	biolink:PhenotypicFeature	Abnormal periventricular white matter morphology	A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.	UMLS:C2673431	hp.json	Abnormality of the periventricular white matter|Periventricular white matter abnormalities	http://purl.obolibrary.org/obo/HP_0002518							
HP:0002519	biolink:PhenotypicFeature	Hypnagogic hallucinations	Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.	MSH:D006212|SNOMEDCT_US:44780000|UMLS:C0233773	hp.json		http://purl.obolibrary.org/obo/HP_0002519							
HP:0002521	biolink:PhenotypicFeature	Hypsarrhythmia	Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).	MSH:D013036|SNOMEDCT_US:28055006|UMLS:C0684276	hp.json	Hypsarrhythmia by EEG	http://purl.obolibrary.org/obo/HP_0002521							
HP:0002522	biolink:PhenotypicFeature	Areflexia of lower limbs	Inability to elicit tendon reflexes in the lower limbs.	UMLS:C1856694	hp.json	Absent lower limb tendon reflexes|Areflexia in lower limbs|Areflexia of the lower limbs|Areflexia, lower limbs	http://purl.obolibrary.org/obo/HP_0002522							
HP:0002524	biolink:PhenotypicFeature	Cataplexy	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.	MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384	hp.json		http://purl.obolibrary.org/obo/HP_0002524							
HP:0002526	biolink:PhenotypicFeature	Deficit in nonword repetition	Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.	UMLS:C4025702	hp.json		http://purl.obolibrary.org/obo/HP_0002526							
HP:0002527	biolink:PhenotypicFeature	Falls		SNOMEDCT_US:161898004|SNOMEDCT_US:1912002|UMLS:C0085639	hp.json	Falls	http://purl.obolibrary.org/obo/HP_0002527							
HP:0002528	biolink:PhenotypicFeature	Granulovacuolar degeneration	Electron-dense granules within double membrane-bound cytoplasmic vacuoles.	SNOMEDCT_US:90506004|UMLS:C0333454	hp.json		http://purl.obolibrary.org/obo/HP_0002528							
HP:0002529	biolink:PhenotypicFeature	Neuronal loss in central nervous system		UMLS:C1850496	hp.json	Neuronal loss in CNS|Loss of brain cells|Neuronal loss	http://purl.obolibrary.org/obo/HP_0002529							
HP:0002530	biolink:PhenotypicFeature	Axial dystonia	A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.	UMLS:C1836149	hp.json	Truncal dystonia	http://purl.obolibrary.org/obo/HP_0002530							
HP:0002533	biolink:PhenotypicFeature	Abnormal posturing	Involuntary flexion or extension of the arms and legs.	SNOMEDCT_US:43029002|UMLS:C0231471	hp.json		http://purl.obolibrary.org/obo/HP_0002533							
HP:0002536	biolink:PhenotypicFeature	Abnormal cortical gyration	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.	UMLS:C1856019	hp.json	Abnormal gyration|Cerebral gyral anomalies	http://purl.obolibrary.org/obo/HP_0002536							
HP:0002538	biolink:PhenotypicFeature	Abnormal cerebral cortex morphology	Any structural abnormality of the cerebral cortex.	UMLS:C4025701	hp.json	Abnormality of the cerebral cortex	http://purl.obolibrary.org/obo/HP_0002538							
HP:0002539	biolink:PhenotypicFeature	Cortical dysplasia	The presence of developmental dysplasia of the cerebral cortex.	MSH:D054220|SNOMEDCT_US:253153000|UMLS:C0431380	hp.json	Neocortical dysplasia	http://purl.obolibrary.org/obo/HP_0002539							
HP:0002540	biolink:PhenotypicFeature	Inability to walk	Incapability to ambulate.	SNOMEDCT_US:282145008|UMLS:C0560046	hp.json	Inability to walk|Non-ambulatory	http://purl.obolibrary.org/obo/HP_0002540							
HP:0002542	biolink:PhenotypicFeature	Olivopontocerebellar atrophy	Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.	MSH:D009849|SNOMEDCT_US:67761004|UMLS:C0028968	hp.json	Olivopontocerebellar degeneration	http://purl.obolibrary.org/obo/HP_0002542							
HP:0002544	biolink:PhenotypicFeature	Retrocollis	A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.	UMLS:C3887667	hp.json		http://purl.obolibrary.org/obo/HP_0002544							
HP:0002545	biolink:PhenotypicFeature	Patchy demyelination of subcortical white matter	Patchy loss of myelin from nerve fibers in the central nervous system.	UMLS:C1857638	hp.json		http://purl.obolibrary.org/obo/HP_0002545							
HP:0002546	biolink:PhenotypicFeature	Incomprehensible speech		UMLS:C1838027	hp.json	Incomprehensible speech	http://purl.obolibrary.org/obo/HP_0002546							
HP:0002548	biolink:PhenotypicFeature	Parkinsonism with favorable response to dopaminergic medication	Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.	UMLS:C1846868	hp.json	Parkinsonism with favourable response to dopaminergic medication|Favourable response to levodopa|Favorable response to levodopa	http://purl.obolibrary.org/obo/HP_0002548							
HP:0002549	biolink:PhenotypicFeature	Deficit in phonologic short-term memory	Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory	UMLS:C1847609	hp.json	Deficit in non-word repetition|Impaired non-word repetition	http://purl.obolibrary.org/obo/HP_0002549							
HP:0002550	biolink:PhenotypicFeature	Absent facial hair	Absence of facial hair.	UMLS:C1848192	hp.json	Absent facial hair	http://purl.obolibrary.org/obo/HP_0002550							
HP:0002552	biolink:PhenotypicFeature	Trichodysplasia	Developmental dysplasia of the hair.	UMLS:C4020850|UMLS:C4025700	hp.json	Generalised trichodysplasia|Generalized trichodysplasia	http://purl.obolibrary.org/obo/HP_0002552							
HP:0002553	biolink:PhenotypicFeature	Highly arched eyebrow	Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.	UMLS:C1868571|UMLS:C4020849	hp.json	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							hposlim_core
HP:0002555	biolink:PhenotypicFeature	Absent pubic hair	Absence of pubic hair.	UMLS:C1859391	hp.json	Absent pubic hair	http://purl.obolibrary.org/obo/HP_0002555							hposlim_core
HP:0002557	biolink:PhenotypicFeature	Hypoplastic nipples	Underdevelopment of the nipple.	SNOMEDCT_US:268290005|UMLS:C0432355	hp.json	Small nipples|Nipple hypoplasia	http://purl.obolibrary.org/obo/HP_0002557							
HP:0002558	biolink:PhenotypicFeature	Supernumerary nipple	Presence of more than two nipples.	Fyler:4234|MSH:C562557|SNOMEDCT_US:50956007|UMLS:C0266011	hp.json	Accessory nipple|Accessory nipples|Increased nipple number|accessory mamilla|Supernumerary nipples|accessory mamillas	http://purl.obolibrary.org/obo/HP_0002558							hposlim_core
HP:0002561	biolink:PhenotypicFeature	Absent nipple	Congenital failure to develop, and absence of, the nipple.	SNOMEDCT_US:248820000|UMLS:C0425795	hp.json	Absent nipple|Absent nipples|Athelia	http://purl.obolibrary.org/obo/HP_0002561							
HP:0002562	biolink:PhenotypicFeature	Low-set nipples	Placement of the nipples at a lower than normal location.	UMLS:C1836933	hp.json	Low-set nipples	http://purl.obolibrary.org/obo/HP_0002562							hposlim_core
HP:0002563	biolink:PhenotypicFeature	Constrictive pericarditis	Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.	MSH:D010494|SNOMEDCT_US:85598007|UMLS:C0031048	hp.json		http://purl.obolibrary.org/obo/HP_0002563							
HP:0002564	biolink:PhenotypicFeature	obsolete Malformation of the heart and great vessels			hp.json		http://purl.obolibrary.org/obo/HP_0002564							
HP:0002566	biolink:PhenotypicFeature	Intestinal malrotation	An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.	MEDDRA:10064024|MSH:C562456|SNOMEDCT_US:253789002|SNOMEDCT_US:29980002|SNOMEDCT_US:48641006|UMLS:C0221210	hp.json	Malrotation|Gut malrotation	http://purl.obolibrary.org/obo/HP_0002566							hposlim_core
HP:0002570	biolink:PhenotypicFeature	Steatorrhea	Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.	MSH:D045602|SNOMEDCT_US:27868004|SNOMEDCT_US:66187002|UMLS:C0038238	hp.json	Fat in feces|Fat in faeces|Fatty stool	http://purl.obolibrary.org/obo/HP_0002570							
HP:0002571	biolink:PhenotypicFeature	Achalasia	A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.	MEDDRA:10030136|MSH:D004931|SNOMEDCT_US:45564002|UMLS:C0014848	hp.json	Achalasia of the oesophagus|Achalasia of the esophagus	http://purl.obolibrary.org/obo/HP_0002571							hposlim_core
HP:0002572	biolink:PhenotypicFeature	Episodic vomiting	Paroxysmal, recurrent episodes of vomiting.	UMLS:C1838993|UMLS:C1857202	hp.json	Episodic vomiting|Frequent vomiting	http://purl.obolibrary.org/obo/HP_0002572							
HP:0002573	biolink:PhenotypicFeature	Hematochezia	The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.	MSH:D006471|SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932	hp.json	Rectal bleeding|Recurrent rectal bleeding	http://purl.obolibrary.org/obo/HP_0002573							
HP:0002574	biolink:PhenotypicFeature	Episodic abdominal pain	An intermittent form of abdominal pain.	UMLS:C0262527|UMLS:C3808022	hp.json	Intermittent abdominal pain	http://purl.obolibrary.org/obo/HP_0002574							
HP:0002575	biolink:PhenotypicFeature	Tracheoesophageal fistula	An abnormal connection (fistula) between the esophagus and the trachea.	Fyler:4202|MEDDRA:10044310|MSH:D014138|SNOMEDCT_US:95435007|UMLS:C0040588	hp.json	Abnormal connection between trachea and esophagus|Abnormal connection between trachea and oesophagus	http://purl.obolibrary.org/obo/HP_0002575							hposlim_core
HP:0002576	biolink:PhenotypicFeature	Intussusception	An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.	MEDDRA:10022863|MSH:D007443|SNOMEDCT_US:35327006|SNOMEDCT_US:49723003|UMLS:C0021933	hp.json		http://purl.obolibrary.org/obo/HP_0002576							hposlim_core
HP:0002577	biolink:PhenotypicFeature	Abnormal stomach morphology	An abnormality of the stomach.	UMLS:C4025699	hp.json	Abnormality of the stomach	http://purl.obolibrary.org/obo/HP_0002577							
HP:0002578	biolink:PhenotypicFeature	Gastroparesis	Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.	MSH:D018589|SNOMEDCT_US:196753007|SNOMEDCT_US:235675006|UMLS:C0152020	hp.json	Delayed gastric emptying	http://purl.obolibrary.org/obo/HP_0002578							hposlim_core
HP:0002579	biolink:PhenotypicFeature	Gastrointestinal dysmotility	Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.	UMLS:C1836923	hp.json	GI dysmotility	http://purl.obolibrary.org/obo/HP_0002579							hposlim_core
HP:0002580	biolink:PhenotypicFeature	Volvulus	Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.	MSH:D045822|SNOMEDCT_US:90738007|SNOMEDCT_US:9707006|UMLS:C0042961	hp.json		http://purl.obolibrary.org/obo/HP_0002580							
HP:0002582	biolink:PhenotypicFeature	Chronic atrophic gastritis	A form of chronic gastritis associated with atrophic gastric mucous membrane.	MSH:D005757|SNOMEDCT_US:84568007|UMLS:C0017154	hp.json		http://purl.obolibrary.org/obo/HP_0002582							
HP:0002583	biolink:PhenotypicFeature	Colitis	Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.	MSH:D003092|SNOMEDCT_US:64226004|UMLS:C0009319	hp.json		http://purl.obolibrary.org/obo/HP_0002583							
HP:0002584	biolink:PhenotypicFeature	Intestinal bleeding	Bleeding from the intestines.	SNOMEDCT_US:712510007|UMLS:C0267373	hp.json	Intestinal bleeding|Intestinal haemorrhage|Intestinal hemorrhage	http://purl.obolibrary.org/obo/HP_0002584							
HP:0002585	biolink:PhenotypicFeature	Abnormality of the peritoneum	An abnormality of the peritoneum.	UMLS:C4025698	hp.json		http://purl.obolibrary.org/obo/HP_0002585							
HP:0002586	biolink:PhenotypicFeature	Peritonitis	Inflammation of the peritoneum.	MSH:D010538|SNOMEDCT_US:48661000|UMLS:C0031154	hp.json	Inflammation of the peritoneum	http://purl.obolibrary.org/obo/HP_0002586							
HP:0002587	biolink:PhenotypicFeature	Projectile vomiting	Vomiting that ejects the gastric contents with great force.	SNOMEDCT_US:8579004|UMLS:C0221151	hp.json	Projectile vomiting	http://purl.obolibrary.org/obo/HP_0002587							
HP:0002588	biolink:PhenotypicFeature	Duodenal ulcer	An erosion of the mucous membrane in a portion of the duodenum.	MEDDRA:10013836|MSH:D004381|SNOMEDCT_US:367474008|SNOMEDCT_US:51868009|UMLS:C0013295	hp.json		http://purl.obolibrary.org/obo/HP_0002588							hposlim_core
HP:0002589	biolink:PhenotypicFeature	Gastrointestinal atresia		UMLS:C4025697	hp.json	GI atresia	http://purl.obolibrary.org/obo/HP_0002589							
HP:0002590	biolink:PhenotypicFeature	Paralytic ileus		MSH:D007418|SNOMEDCT_US:55525008|UMLS:C0030446	hp.json		http://purl.obolibrary.org/obo/HP_0002590							
HP:0002591	biolink:PhenotypicFeature	Polyphagia	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.	MSH:D006963|SNOMEDCT_US:267023007|SNOMEDCT_US:58424009|SNOMEDCT_US:72405004|UMLS:C0020505|UMLS:C0232461	hp.json	Voracious appetite|Increased appetite|Hyperphagia	http://purl.obolibrary.org/obo/HP_0002591							
HP:0002592	biolink:PhenotypicFeature	Gastric ulcer	An ulcer, that is, an erosion of an area of the gastric mucous membrane.	MEDDRA:10017822|MSH:D013276|SNOMEDCT_US:397825006|UMLS:C0038358	hp.json	Stomach ulcer	http://purl.obolibrary.org/obo/HP_0002592							hposlim_core
HP:0002593	biolink:PhenotypicFeature	Intestinal lymphangiectasia	Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.	MSH:D008201|SNOMEDCT_US:197260007|UMLS:C0024215	hp.json		http://purl.obolibrary.org/obo/HP_0002593							
HP:0002594	biolink:PhenotypicFeature	Pancreatic hypoplasia	Hypoplasia of the pancreas.	SNOMEDCT_US:68591005|UMLS:C0266267	hp.json	Underdeveloped pancreas|Hypoplastic pancreas	http://purl.obolibrary.org/obo/HP_0002594							
HP:0002595	biolink:PhenotypicFeature	Ileus	Acute obstruction of the intestines preventing passage of the contents of the intestines.	MEDDRA:10021328|MSH:D045823|UMLS:C1258215	hp.json	Gastrointestinal atony	http://purl.obolibrary.org/obo/HP_0002595							hposlim_core
HP:0002597	biolink:PhenotypicFeature	Abnormality of the vasculature	An abnormality of the vasculature.	UMLS:C0241657	hp.json	Abnormality of blood vessels|Abnormality of the vasculature|Vascular abnormalities	http://purl.obolibrary.org/obo/HP_0002597							
HP:0002599	biolink:PhenotypicFeature	Head titubation	A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.	UMLS:C1608410	hp.json		http://purl.obolibrary.org/obo/HP_0002599							
HP:0002600	biolink:PhenotypicFeature	Hyporeflexia of lower limbs	Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.	UMLS:C1834696	hp.json	Hyporeflexia in lower limbs|Hyporeflexia of the lower limbs|Hyporeflexia, lower limbs|Hyporeflexia/areflexia in lower limbs	http://purl.obolibrary.org/obo/HP_0002600							
HP:0002601	biolink:PhenotypicFeature	Paresis of extensor muscles of the big toe		UMLS:C4025696	hp.json		http://purl.obolibrary.org/obo/HP_0002601							
HP:0002604	biolink:PhenotypicFeature	Gastrointestinal telangiectasia	Telangiectasia affecting the gastrointestinal tract.	UMLS:C1619711	hp.json	GI telangiectasia|Small, enlarged blood vessels near skin	http://purl.obolibrary.org/obo/HP_0002604							
HP:0002605	biolink:PhenotypicFeature	Hepatic necrosis	The presence of cell death (necrosis) affecting the liver.	SNOMEDCT_US:87248009|UMLS:C0151798	hp.json		http://purl.obolibrary.org/obo/HP_0002605							
HP:0002607	biolink:PhenotypicFeature	Bowel incontinence	Involuntary fecal soiling in adults and children who have usually already been toilet trained.	MSH:D005242|SNOMEDCT_US:72042002|UMLS:C0015732	hp.json	Loss of bowel control|Faecal incontinence|Anal incontinence|Fecal incontinence	http://purl.obolibrary.org/obo/HP_0002607							
HP:0002608	biolink:PhenotypicFeature	Celiac disease	Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.	MSH:D002446|SNOMEDCT_US:396331005|UMLS:C0007570	hp.json	Celiac disease|Coeliac disease|Coeliac sprue|Celiac sprue	http://purl.obolibrary.org/obo/HP_0002608							
HP:0002611	biolink:PhenotypicFeature	Cholestatic liver disease		UMLS:C0860204	hp.json		http://purl.obolibrary.org/obo/HP_0002611							
HP:0002612	biolink:PhenotypicFeature	Congenital hepatic fibrosis	The presence of fibrosis of that part of the liver with congenital onset.	MSH:C562378|SNOMEDCT_US:79607001|UMLS:C0009714	hp.json	Excessive buildup of connective tissue and scarring of liver at birth|Congenital liver fibrosis	http://purl.obolibrary.org/obo/HP_0002612							
HP:0002613	biolink:PhenotypicFeature	Biliary cirrhosis	Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.	MSH:D008105|SNOMEDCT_US:1761006|SNOMEDCT_US:31712002|UMLS:C0008312|UMLS:C0023892	hp.json	Primary biliary cirrhosis	http://purl.obolibrary.org/obo/HP_0002613							
HP:0002614	biolink:PhenotypicFeature	Hepatic periportal necrosis	A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.	UMLS:C0546389	hp.json		http://purl.obolibrary.org/obo/HP_0002614							
HP:0002615	biolink:PhenotypicFeature	Hypotension	Low Blood Pressure, vascular hypotension.	MSH:D007022|SNOMEDCT_US:45007003|UMLS:C0020649	hp.json	Low blood pressure|Arterial hypotension	http://purl.obolibrary.org/obo/HP_0002615							
HP:0002616	biolink:PhenotypicFeature	Aortic root aneurysm	An abnormal localized widening (dilatation) of the aortic root.	SNOMEDCT_US:251036003|UMLS:C0238669	hp.json	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							
HP:0002617	biolink:PhenotypicFeature	Vascular dilatation	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.	Fyler:2399|MSH:D000783|SNOMEDCT_US:432119003|SNOMEDCT_US:85659009|UMLS:C0002940|UMLS:C4020848	hp.json	Wider than typical opening or gap|Aneurysm|Aneurysms|Aneurysmal disease|Aneurysmal dilatation	http://purl.obolibrary.org/obo/HP_0002617							
HP:0002619	biolink:PhenotypicFeature	Varicose veins	Enlarged and tortuous veins.	MSH:D014648|SNOMEDCT_US:128060009|SNOMEDCT_US:12856003|SNOMEDCT_US:399989005|UMLS:C0042345	hp.json		http://purl.obolibrary.org/obo/HP_0002619							
HP:0002621	biolink:PhenotypicFeature	Atherosclerosis	A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.	MSH:D050197|SNOMEDCT_US:38716007|UMLS:C0004153|UMLS:C4280569	hp.json	Plaque build-up in arteries|Narrowing and hardening of arteries|Atherosclerotic cardiovascular disease	http://purl.obolibrary.org/obo/HP_0002621							
HP:0002622	biolink:PhenotypicFeature	obsolete Dissecting aortic dilatation			hp.json		http://purl.obolibrary.org/obo/HP_0002622							
HP:0002623	biolink:PhenotypicFeature	Overriding aorta	An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.	Fyler:1432|SNOMEDCT_US:63934006|UMLS:C0011818|UMLS:C0265886	hp.json	Dextroposition of aorta|Overriding aortic valve	http://purl.obolibrary.org/obo/HP_0002623							
HP:0002624	biolink:PhenotypicFeature	Abnormal venous morphology	An anomaly of vein.	UMLS:C0241665	hp.json	Abnormal vein|Venous abnormality	http://purl.obolibrary.org/obo/HP_0002624							
HP:0002625	biolink:PhenotypicFeature	Deep venous thrombosis	Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.	MSH:D020246|SNOMEDCT_US:128053003|UMLS:C0149871	hp.json	Blood clot in a deep vein|Deep vein thrombosis|Multiple deep venous thrombosis	http://purl.obolibrary.org/obo/HP_0002625							
HP:0002626	biolink:PhenotypicFeature	Venous varicosities of celiac and mesenteric vessels	Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.	UMLS:C1857692	hp.json	Venous varicosities of coeliac and mesenteric vessels	http://purl.obolibrary.org/obo/HP_0002626							
HP:0002627	biolink:PhenotypicFeature	Right aortic arch with mirror image branching	The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.	UMLS:C4025695	hp.json		http://purl.obolibrary.org/obo/HP_0002627							
HP:0002629	biolink:PhenotypicFeature	Gastrointestinal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.	UMLS:C0744321	hp.json	GI arteriovenous malformation	http://purl.obolibrary.org/obo/HP_0002629							
HP:0002630	biolink:PhenotypicFeature	Fat malabsorption	Abnormality of the absorption of fat from the gastrointestinal tract.	SNOMEDCT_US:197494007|UMLS:C0554103	hp.json		http://purl.obolibrary.org/obo/HP_0002630							
HP:0002631	biolink:PhenotypicFeature	obsolete Dilatation of ascending aorta			hp.json		http://purl.obolibrary.org/obo/HP_0002631							
HP:0002632	biolink:PhenotypicFeature	Low-to-normal blood pressure		UMLS:C1866500	hp.json	Low-to-normal BP|Low-to-normal blood pressure	http://purl.obolibrary.org/obo/HP_0002632							
HP:0002633	biolink:PhenotypicFeature	Vasculitis	Inflammation of blood vessel.	MSH:D014657|SNOMEDCT_US:31996006|UMLS:C0042384	hp.json	Inflammation of blood vessel|Angiitis	http://purl.obolibrary.org/obo/HP_0002633							
HP:0002634	biolink:PhenotypicFeature	Arteriosclerosis	Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.	MSH:D001161|SNOMEDCT_US:107671003|SNOMEDCT_US:28960008|SNOMEDCT_US:72092001|UMLS:C0003850|UMLS:C4280568	hp.json	Hardened artery wall	http://purl.obolibrary.org/obo/HP_0002634							
HP:0002635	biolink:PhenotypicFeature	Type IV atherosclerotic lesion	In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.	MSH:D050197|SNOMEDCT_US:38716007|UMLS:C0004153	hp.json	Atheromatosis	http://purl.obolibrary.org/obo/HP_0002635							
HP:0002636	biolink:PhenotypicFeature	Dilatation of an abdominal artery	Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.	UMLS:C4025694	hp.json	Aneurysm of an abdominal artery	http://purl.obolibrary.org/obo/HP_0002636							
HP:0002637	biolink:PhenotypicFeature	Cerebral ischemia		MSH:D002545|SNOMEDCT_US:287731003|SNOMEDCT_US:389100007|UMLS:C0007786|UMLS:C0917798	hp.json	Disruption of blood oxygen supply to brain|Brain ischemia|Cerebrovascular ischemia	http://purl.obolibrary.org/obo/HP_0002637							
HP:0002638	biolink:PhenotypicFeature	Superficial thrombophlebitis	Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).	SNOMEDCT_US:2477008|UMLS:C1510431	hp.json		http://purl.obolibrary.org/obo/HP_0002638							
HP:0002639	biolink:PhenotypicFeature	Budd-Chiari syndrome	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.	MSH:D006502|SNOMEDCT_US:82385007|UMLS:C0856761	hp.json		http://purl.obolibrary.org/obo/HP_0002639							
HP:0002640	biolink:PhenotypicFeature	Hypertension associated with pheochromocytoma	A type of hypertension associated with pheochromocytoma.	UMLS:C4025693	hp.json		http://purl.obolibrary.org/obo/HP_0002640							
HP:0002641	biolink:PhenotypicFeature	Peripheral thrombosis		UMLS:C1849749	hp.json	Peripheral blood clot	http://purl.obolibrary.org/obo/HP_0002641							
HP:0002642	biolink:PhenotypicFeature	Arteriovenous fistulas of celiac and mesenteric vessels		UMLS:C1857693	hp.json	Arteriovenous fistulas of coeliac and mesenteric vessels	http://purl.obolibrary.org/obo/HP_0002642							
HP:0002643	biolink:PhenotypicFeature	Neonatal respiratory distress	Respiratory difficulty as newborn.	UMLS:C0852283	hp.json	Infantile respiratory distress|Neonatal respiratory distress|Newborn respiratory distress|Respiratory distress, neonatal	http://purl.obolibrary.org/obo/HP_0002643							
HP:0002644	biolink:PhenotypicFeature	Abnormality of pelvic girdle bone morphology	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.	UMLS:C4020847	hp.json	Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle	http://purl.obolibrary.org/obo/HP_0002644							
HP:0002645	biolink:PhenotypicFeature	Wormian bones	The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.	SNOMEDCT_US:113194005|UMLS:C0222716	hp.json	Extra bones within cranial sutures|Intra sutural bones|Intrasutural bones|Islands of bone within cranial sutures	http://purl.obolibrary.org/obo/HP_0002645							hposlim_core
HP:0002647	biolink:PhenotypicFeature	Aortic dissection	Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.	SNOMEDCT_US:308546005|UMLS:C0340643	hp.json	Tear in inner wall of large artery that carries blood away from heart	http://purl.obolibrary.org/obo/HP_0002647							
HP:0002648	biolink:PhenotypicFeature	Abnormality of calvarial morphology	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.	UMLS:C4025692|UMLS:C4280260	hp.json	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							
HP:0002650	biolink:PhenotypicFeature	Scoliosis	The presence of an abnormal lateral curvature of the spine.	Fyler:4160|MSH:D013121|SNOMEDCT_US:111266001|SNOMEDCT_US:64217002|UMLS:C0037932|UMLS:C0700208	hp.json		http://purl.obolibrary.org/obo/HP_0002650							hposlim_core
HP:0002651	biolink:PhenotypicFeature	Spondyloepimetaphyseal dysplasia		SNOMEDCT_US:254062008|UMLS:C0432211	hp.json		http://purl.obolibrary.org/obo/HP_0002651							
HP:0002652	biolink:PhenotypicFeature	Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.	MSH:D010009|SNOMEDCT_US:105985007|SNOMEDCT_US:240190009|UMLS:C0029422|UMLS:C4280567	hp.json	Abnormal skeletal development	http://purl.obolibrary.org/obo/HP_0002652							
HP:0002653	biolink:PhenotypicFeature	Bone pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.	SNOMEDCT_US:12584003|UMLS:C0151825	hp.json	Bone pain	http://purl.obolibrary.org/obo/HP_0002653							
HP:0002654	biolink:PhenotypicFeature	Multiple epiphyseal dysplasia		MSH:D010009|SNOMEDCT_US:59708000|UMLS:C0026760	hp.json		http://purl.obolibrary.org/obo/HP_0002654							
HP:0002655	biolink:PhenotypicFeature	Spondyloepiphyseal dysplasia	A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).	MSH:D010009|UMLS:C0038015	hp.json	Spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/HP_0002655							
HP:0002656	biolink:PhenotypicFeature	Epiphyseal dysplasia		SNOMEDCT_US:254080004|UMLS:C0392476|UMLS:C4280566	hp.json	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	biolink:PhenotypicFeature	Spondylometaphyseal dysplasia		MSH:C537501|SNOMEDCT_US:702350003|UMLS:C0700635	hp.json		http://purl.obolibrary.org/obo/HP_0002657							
HP:0002659	biolink:PhenotypicFeature	Increased susceptibility to fractures	An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.	UMLS:C1390474	hp.json	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							
HP:0002661	biolink:PhenotypicFeature	Painless fractures due to injury	An increased tendency to fractures following trauma, with fractures occurring without pain.	UMLS:C1837602	hp.json	Painless fractures due to injury	http://purl.obolibrary.org/obo/HP_0002661							
HP:0002663	biolink:PhenotypicFeature	Delayed epiphyseal ossification		UMLS:C1865200|UMLS:C4280565	hp.json	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	biolink:PhenotypicFeature	Neoplasm	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).	MSH:D009369|NCIT:C3262|SNOMEDCT_US:108369006|SNOMEDCT_US:363346000|UMLS:C0006826|UMLS:C0027651	hp.json	Abnormal tissue mass|Cancer|Neoplasia|Oncological abnormality|Tumor|Tumour|Oncology	http://purl.obolibrary.org/obo/HP_0002664							
HP:0002665	biolink:PhenotypicFeature	Lymphoma	A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.	MSH:D008223|NCIT:C7065|SNOMEDCT_US:115244002|SNOMEDCT_US:118600007|SNOMEDCT_US:188676008|SNOMEDCT_US:21964009|UMLS:C0024299	hp.json	Cancer of lymphatic system	http://purl.obolibrary.org/obo/HP_0002665							
HP:0002666	biolink:PhenotypicFeature	Pheochromocytoma	Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.	MSH:D010673|NCIT:C3326|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|SNOMEDCT_US:85583005|UMLS:C0031511	hp.json	Chromaffin tumours|Chromaffin tumors	http://purl.obolibrary.org/obo/HP_0002666							
HP:0002667	biolink:PhenotypicFeature	Nephroblastoma	The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.	MSH:D009396|NCIT:C40407|SNOMEDCT_US:25081006|SNOMEDCT_US:302849000|UMLS:C0027708	hp.json	Wilm's tumour|Wilms tumour|Wilm's tumor|Wilms tumor	http://purl.obolibrary.org/obo/HP_0002667							
HP:0002668	biolink:PhenotypicFeature	Paraganglioma	A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.	MSH:D010235|NCIT:C3308|SNOMEDCT_US:127027008|SNOMEDCT_US:253029009|SNOMEDCT_US:302833002|SNOMEDCT_US:72787006|SNOMEDCT_US:803009|UMLS:C0030421	hp.json	Carotid body tumours|Carotid body tumors|Paragangliomas	http://purl.obolibrary.org/obo/HP_0002668							
HP:0002669	biolink:PhenotypicFeature	Osteosarcoma	A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.	MSH:D012516|NCIT:C9145|SNOMEDCT_US:21708004|SNOMEDCT_US:307576001|UMLS:C0029463	hp.json	Bone cell cancer|Osteogenic sarcoma	http://purl.obolibrary.org/obo/HP_0002669							
HP:0002671	biolink:PhenotypicFeature	Basal cell carcinoma	The presence of a basal cell carcinoma of the skin.	MSH:D002280|NCIT:C2921|SNOMEDCT_US:1338007|SNOMEDCT_US:254701007|SNOMEDCT_US:275265005|UMLS:C0007117|UMLS:C1862314	hp.json	Basal cell carcinomas|Basal cell epithelioma|Basal cell nevus|Basalioma	http://purl.obolibrary.org/obo/HP_0002671							
HP:0002672	biolink:PhenotypicFeature	Gastrointestinal carcinoma		UMLS:C0151544	hp.json	GI carcinoma	http://purl.obolibrary.org/obo/HP_0002672							
HP:0002673	biolink:PhenotypicFeature	Coxa valga	Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).	MSH:D060906|SNOMEDCT_US:299236004|UMLS:C0239137|UMLS:C3549698	hp.json	Coxa valga deformity	http://purl.obolibrary.org/obo/HP_0002673							
HP:0002676	biolink:PhenotypicFeature	Cloverleaf skull	Trilobar skull configuration when viewed from the front or behind.	UMLS:C1860050|UMLS:C4280564	hp.json	Cloverleaf cranium shape|Cloverleaf skull shape|Trilobar cranium shape|Trilobar skull shape|Kleeblattschaedel	http://purl.obolibrary.org/obo/HP_0002676							hposlim_core
HP:0002677	biolink:PhenotypicFeature	Small foramen magnum	An abnormal narrowing of the foramen magnum.	SNOMEDCT_US:444879009|UMLS:C1535953|UMLS:C1861217|UMLS:C4072838	hp.json	Little foramen magnum|Narrow foramen magnum|Foramen magnum stenosis|Hypoplasia of foramen magnum|Stenosis of foramen magnum	http://purl.obolibrary.org/obo/HP_0002677							hposlim_core
HP:0002678	biolink:PhenotypicFeature	Skull asymmetry		SNOMEDCT_US:248372000|UMLS:C0424690|UMLS:C4280562|UMLS:C4280563	hp.json	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	biolink:PhenotypicFeature	Abnormal sella turcica morphology	Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.	UMLS:C4021754|UMLS:C4072839	hp.json	Abnormality of the sella turcica|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							hposlim_core
HP:0002680	biolink:PhenotypicFeature	J-shaped sella turcica	A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.	UMLS:C1854718|UMLS:C4072841|UMLS:C4072842	hp.json	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							hposlim_core
HP:0002681	biolink:PhenotypicFeature	Deformed sella turcica		UMLS:C1846437	hp.json	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	biolink:PhenotypicFeature	Broad skull	Increased width of the skull.	SNOMEDCT_US:248374004|UMLS:C0424693	hp.json	Broad skull|Increased width of skull|Wide skull|Broad cranium|Increased width of cranium|Wide cranium	http://purl.obolibrary.org/obo/HP_0002682							
HP:0002683	biolink:PhenotypicFeature	Abnormality of the calvaria	Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.	UMLS:C4025691|UMLS:C4280561	hp.json	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							
HP:0002684	biolink:PhenotypicFeature	Thickened calvaria	The presence of an abnormally thick calvaria.	UMLS:C1858452|UMLS:C4280560	hp.json	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							
HP:0002686	biolink:PhenotypicFeature	Prenatal maternal abnormality		UMLS:C4025690	hp.json	Maternal health problem	http://purl.obolibrary.org/obo/HP_0002686							
HP:0002687	biolink:PhenotypicFeature	Abnormality of frontal sinus	An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.	UMLS:C4025689	hp.json	Abnormality of the forehead sinus|Abnormality of sinus frontalis	http://purl.obolibrary.org/obo/HP_0002687							
HP:0002688	biolink:PhenotypicFeature	Absent frontal sinuses	Aplasia of frontal sinus.	UMLS:C1855669|UMLS:C4280559	hp.json	Absence of frontal sinuses|Absent frontal sinus|Missing frontal sinus|Aplasia of frontal sinus|Aplasia sinus frontalis	http://purl.obolibrary.org/obo/HP_0002688							hposlim_core
HP:0002689	biolink:PhenotypicFeature	Absent paranasal sinuses	Aplasia of the paranasal sinuses.	UMLS:C1857131|UMLS:C3804986|UMLS:C4072844	hp.json	Missing sinuses|Missing paranasal sinuses|Absence of paranasal sinuses|Aplasia of paranasal sinuses	http://purl.obolibrary.org/obo/HP_0002689							
HP:0002690	biolink:PhenotypicFeature	Large sella turcica	An abnormal enlargement of the sella turcica.	UMLS:C1843677|UMLS:C4072845|UMLS:C4072846	hp.json	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							hposlim_core
HP:0002691	biolink:PhenotypicFeature	Platybasia	A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.	MSH:D010985|SNOMEDCT_US:86587003|UMLS:C0032209	hp.json	Flattening of the skull base|Increased basal angle of skull base|Obtuse basal angle of skull base	http://purl.obolibrary.org/obo/HP_0002691							hposlim_core
HP:0002692	biolink:PhenotypicFeature	Hypoplastic facial bones		UMLS:C1846438|UMLS:C4229090|UMLS:C4280268|UMLS:C4280557|UMLS:C4280558	hp.json	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	biolink:PhenotypicFeature	Abnormality of the skull base	An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.	UMLS:C4025688	hp.json	Abnormality of the skull base|Abnormality of cranial base	http://purl.obolibrary.org/obo/HP_0002693							
HP:0002694	biolink:PhenotypicFeature	Sclerosis of skull base	Increased bone density of the skull base without significant changes in bony contour.	UMLS:C1851714|UMLS:C4072847|UMLS:C4072848	hp.json	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							
HP:0002695	biolink:PhenotypicFeature	Symmetrical, oval parietal bone defects		UMLS:C1865045	hp.json	Symmetrical, oval defects in the parietal bone	http://purl.obolibrary.org/obo/HP_0002695							
HP:0002696	biolink:PhenotypicFeature	Abnormal parietal bone morphology	Any abnormality of the parietal bone of the skull.	UMLS:C4021834	hp.json	Abnormality of the parietal bone|Abnormality of the parietal bone of skull	http://purl.obolibrary.org/obo/HP_0002696							
HP:0002697	biolink:PhenotypicFeature	Parietal foramina	The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.	SNOMEDCT_US:11240000|SNOMEDCT_US:29307005|UMLS:C0222706|UMLS:C4280556	hp.json	Holes in parietal bones|Openings in parietal bones|Persistent foramina of the parietal bones	http://purl.obolibrary.org/obo/HP_0002697							
HP:0002699	biolink:PhenotypicFeature	Abnormal foramen magnum morphology	Any abnormality of the foramen magnum.	UMLS:C4025687	hp.json	Abnormality of the foramen magnum	http://purl.obolibrary.org/obo/HP_0002699							hposlim_core
HP:0002700	biolink:PhenotypicFeature	Large foramen magnum	An abnormal increase in the size of the foramen magnum.	UMLS:C1844508|UMLS:C4073291|UMLS:C4280554|UMLS:C4280555	hp.json	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							hposlim_core
HP:0002703	biolink:PhenotypicFeature	Abnormality of skull ossification	An abnormality of the process of ossification of the skull.	UMLS:C4025686|UMLS:C4280550|UMLS:C4280551|UMLS:C4280552|UMLS:C4280553	hp.json	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							
HP:0002705	biolink:PhenotypicFeature	High, narrow palate	The presence of a high and narrow palate.	UMLS:C1837404	hp.json	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							
HP:0002707	biolink:PhenotypicFeature	Palate telangiectasia	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.	UMLS:C1857699|UMLS:C4280267	hp.json	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							
HP:0002708	biolink:PhenotypicFeature	Prominent median palatal raphe	Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.	UMLS:C1845108	hp.json	Prominent central ridge on roof of the mouth|Prominent central palatal ridge|Prominent medial palatal suture	http://purl.obolibrary.org/obo/HP_0002708							
HP:0002710	biolink:PhenotypicFeature	Commissural lip pit	A depression located at an oral commissure.	UMLS:C0399605	hp.json	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							hposlim_core
HP:0002711	biolink:PhenotypicFeature	Exaggerated median tongue furrow	Increased depth of the median tongue furrow.	UMLS:C1845109	hp.json	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							
HP:0002714	biolink:PhenotypicFeature	Downturned corners of mouth	A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.	UMLS:C1866195	hp.json	Downturned corners of mouth|Downturned corners of the mouth|Downturned mouth|Downturned oral commisures	http://purl.obolibrary.org/obo/HP_0002714							hposlim_core
HP:0002715	biolink:PhenotypicFeature	Abnormality of the immune system	An abnormality of the immune system.	UMLS:C4021753	hp.json	Abnormality of the immune system|Immunological abnormality	http://purl.obolibrary.org/obo/HP_0002715							
HP:0002716	biolink:PhenotypicFeature	Lymphadenopathy	Enlargment (swelling) of a lymph node.	MSH:D000072281|SNOMEDCT_US:30746006|UMLS:C0497156	hp.json	Swollen lymph nodes|Lymph node hyperplasia	http://purl.obolibrary.org/obo/HP_0002716							
HP:0002717	biolink:PhenotypicFeature	Adrenal overactivity		UMLS:C4025685	hp.json		http://purl.obolibrary.org/obo/HP_0002717							
HP:0002718	biolink:PhenotypicFeature	Recurrent bacterial infections	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.	SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958|UMLS:C4020846	hp.json	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							
HP:0002719	biolink:PhenotypicFeature	Recurrent infections	Increased susceptibility to infections.	UMLS:C0239998	hp.json	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							
HP:0002720	biolink:PhenotypicFeature	Decreased circulating IgA level	Decreased levels of immunoglobulin A (IgA).	MSH:D017098|SNOMEDCT_US:29260007|UMLS:C0162538	hp.json	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							
HP:0002721	biolink:PhenotypicFeature	Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.	MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051	hp.json	Decreased immune function|Immune deficiency	http://purl.obolibrary.org/obo/HP_0002721							
HP:0002722	biolink:PhenotypicFeature	Recurrent abscess formation	An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.	UMLS:C4025684	hp.json		http://purl.obolibrary.org/obo/HP_0002722							
HP:0002723	biolink:PhenotypicFeature	Absence of bactericidal oxidative respiratory burst in phagocytes	An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.	UMLS:C1844385	hp.json		http://purl.obolibrary.org/obo/HP_0002723							
HP:0002724	biolink:PhenotypicFeature	Recurrent Aspergillus infections	An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.	UMLS:C4021752	hp.json	Aspergillus infections, recurrent	http://purl.obolibrary.org/obo/HP_0002724							
HP:0002725	biolink:PhenotypicFeature	Systemic lupus erythematosus	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.	MSH:D008180|SNOMEDCT_US:55464009|UMLS:C0024141	hp.json	SLE	http://purl.obolibrary.org/obo/HP_0002725							
HP:0002726	biolink:PhenotypicFeature	Recurrent Staphylococcus aureus infections	Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.	UMLS:C2673462	hp.json	Staphylococcus aureus infections, recurrent	http://purl.obolibrary.org/obo/HP_0002726							
HP:0002728	biolink:PhenotypicFeature	Chronic mucocutaneous candidiasis	Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.	MSH:D002178|SNOMEDCT_US:234568006|UMLS:C0006845	hp.json	Chronic candidiasis of mucosa, skin and nails|Mucocutaneous candidiasis	http://purl.obolibrary.org/obo/HP_0002728							
HP:0002729	biolink:PhenotypicFeature	Follicular hyperplasia	Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.	UMLS:C4014733	hp.json		http://purl.obolibrary.org/obo/HP_0002729							
HP:0002730	biolink:PhenotypicFeature	Chronic noninfectious lymphadenopathy	A chronic form of lymphadenopathy that is not related to infection.	UMLS:C1858970	hp.json		http://purl.obolibrary.org/obo/HP_0002730							
HP:0002731	biolink:PhenotypicFeature	Decreased lymphocyte apoptosis	A reduction in the rate of apoptosis in lymphocytes.	UMLS:C1858969	hp.json	Defective lymphocyte apoptosis	http://purl.obolibrary.org/obo/HP_0002731							
HP:0002732	biolink:PhenotypicFeature	Lymph node hypoplasia	Underdevelopment of the lymph nodes.	UMLS:C1865377|UMLS:C4025683	hp.json	Small lymph nodes	http://purl.obolibrary.org/obo/HP_0002732							
HP:0002733	biolink:PhenotypicFeature	Abnormality of the lymph nodes	A lymph node abnormality.	UMLS:C0149727	hp.json	Abnormal lymph node histology|Abnormality of the lymph nodes	http://purl.obolibrary.org/obo/HP_0002733							
HP:0002737	biolink:PhenotypicFeature	Thick skull base		UMLS:C1839507	hp.json	Increased thickness of bone of skull base|Increased thickness of skull base|Thick skull base	http://purl.obolibrary.org/obo/HP_0002737							
HP:0002738	biolink:PhenotypicFeature	Hypoplastic frontal sinuses	Underdevelopment of frontal sinus.	UMLS:C1859682|UMLS:C4280548|UMLS:C4280549	hp.json	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							
HP:0002740	biolink:PhenotypicFeature	Recurrent E. coli infections	Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.	MSH:D004927|SNOMEDCT_US:71057007|UMLS:C0014836	hp.json	E coli infections|E coli infections, recurrent	http://purl.obolibrary.org/obo/HP_0002740							
HP:0002741	biolink:PhenotypicFeature	Recurrent Serratia marcescens infections	Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.	UMLS:C4025682	hp.json		http://purl.obolibrary.org/obo/HP_0002741							
HP:0002742	biolink:PhenotypicFeature	Recurrent Klebsiella infections	Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.	UMLS:C4021751	hp.json	Klebsiella infections, recurrent	http://purl.obolibrary.org/obo/HP_0002742							
HP:0002743	biolink:PhenotypicFeature	Recurrent enteroviral infections	Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.	UMLS:C4025681	hp.json		http://purl.obolibrary.org/obo/HP_0002743							
HP:0002744	biolink:PhenotypicFeature	Bilateral cleft lip and palate	Cleft lip and cleft palate affecting both sides of the face.	SNOMEDCT_US:1085331000119107|UMLS:C1398522	hp.json	Right and left cleft lip and palate|Bilateral cleft lip and cleft palate	http://purl.obolibrary.org/obo/HP_0002744							
HP:0002745	biolink:PhenotypicFeature	Oral leukoplakia	A thickened white patch on the oral mucosa that cannot be rubbed off.	MSH:D007971|MSH:D007972|SNOMEDCT_US:414603003|SNOMEDCT_US:9187004|UMLS:C0023532|UMLS:C1704317	hp.json	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							hposlim_core
HP:0002747	biolink:PhenotypicFeature	Respiratory insufficiency due to muscle weakness		UMLS:C3806467	hp.json	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	biolink:PhenotypicFeature	Rickets	Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.	MSH:D012279|SNOMEDCT_US:41345002|UMLS:C0035579	hp.json	Weak and soft bones	http://purl.obolibrary.org/obo/HP_0002748							
HP:0002749	biolink:PhenotypicFeature	Osteomalacia	Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.	SNOMEDCT_US:4598005|UMLS:C0029442	hp.json	Softening of the bones	http://purl.obolibrary.org/obo/HP_0002749							
HP:0002750	biolink:PhenotypicFeature	Delayed skeletal maturation	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.	SNOMEDCT_US:123983008|UMLS:C0541764	hp.json	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							
HP:0002751	biolink:PhenotypicFeature	Kyphoscoliosis	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.	SNOMEDCT_US:405773007|UMLS:C0575158	hp.json		http://purl.obolibrary.org/obo/HP_0002751							
HP:0002752	biolink:PhenotypicFeature	Sparse bone trabeculae		UMLS:C1833324	hp.json		http://purl.obolibrary.org/obo/HP_0002752							
HP:0002753	biolink:PhenotypicFeature	Thin bony cortex	Abnormal thinning of the cortical region of bones.	UMLS:C1833325	hp.json	Thin cortices	http://purl.obolibrary.org/obo/HP_0002753							
HP:0002754	biolink:PhenotypicFeature	Osteomyelitis	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.	MSH:D010019|SNOMEDCT_US:111253001|SNOMEDCT_US:60168000|UMLS:C0029443|UMLS:C2242472	hp.json	Bone infection	http://purl.obolibrary.org/obo/HP_0002754							
HP:0002755	biolink:PhenotypicFeature	obsolete Osteomyelitis due to immunodeficiency			hp.json		http://purl.obolibrary.org/obo/HP_0002755							
HP:0002756	biolink:PhenotypicFeature	Pathologic fracture	A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.	MSH:D005598|SNOMEDCT_US:22640007|SNOMEDCT_US:268029009|UMLS:C0016663	hp.json	Spontaneous fracture|Pathologic fractures|Spontaneous fractures	http://purl.obolibrary.org/obo/HP_0002756							
HP:0002757	biolink:PhenotypicFeature	Recurrent fractures	The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).	MSH:D000069076|SNOMEDCT_US:134291007|SNOMEDCT_US:5468008|UMLS:C0016655|UMLS:C1833752|UMLS:C3805574|UMLS:C3806283	hp.json	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							
HP:0002758	biolink:PhenotypicFeature	Osteoarthritis	Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.	MSH:D010003|SNOMEDCT_US:225655006|SNOMEDCT_US:396275006|UMLS:C0029408	hp.json	Degenerative joint disease	http://purl.obolibrary.org/obo/HP_0002758							
HP:0002761	biolink:PhenotypicFeature	Generalized joint laxity	Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.	UMLS:C1836308	hp.json	Hypermobility of all joints|Generalised joint laxity|Joint laxity, generalised|Joint laxity, generalized	http://purl.obolibrary.org/obo/HP_0002761							
HP:0002762	biolink:PhenotypicFeature	Multiple exostoses	Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.	MSH:D005097|SNOMEDCT_US:254044004|UMLS:C0015306	hp.json		http://purl.obolibrary.org/obo/HP_0002762							
HP:0002763	biolink:PhenotypicFeature	Abnormal cartilage morphology	Any morphological abnormality of cartilage.	UMLS:C4025680	hp.json	Abnormal shape of cartilage|Abnormality of cartilage morphology	http://purl.obolibrary.org/obo/HP_0002763							
HP:0002764	biolink:PhenotypicFeature	Stippled chondral calcification	Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).	UMLS:C4025679	hp.json		http://purl.obolibrary.org/obo/HP_0002764							
HP:0002766	biolink:PhenotypicFeature	Relatively short spine		UMLS:C3277114	hp.json	Relatively short spine	http://purl.obolibrary.org/obo/HP_0002766							
HP:0002773	biolink:PhenotypicFeature	obsolete Small vertebral bodies			hp.json		http://purl.obolibrary.org/obo/HP_0002773							
HP:0002777	biolink:PhenotypicFeature	Tracheal stenosis		MSH:D014135|SNOMEDCT_US:11296007|UMLS:C0040583	hp.json	Narrowing of windpipe	http://purl.obolibrary.org/obo/HP_0002777							
HP:0002778	biolink:PhenotypicFeature	Abnormal trachea morphology	A structural anomaly of the trachea.	MSH:D014133|SNOMEDCT_US:47125007|UMLS:C0040580|UMLS:C4025678	hp.json	Abnormality of the trachea|Tracheal disease	http://purl.obolibrary.org/obo/HP_0002778							
HP:0002779	biolink:PhenotypicFeature	Tracheomalacia		MSH:D055090|SNOMEDCT_US:95434006|UMLS:C0948187	hp.json	Floppy windpipe	http://purl.obolibrary.org/obo/HP_0002779							
HP:0002780	biolink:PhenotypicFeature	Bronchomalacia	Weakness or softness of the cartilage in the walls of the bronchial tubes.	MSH:D055091|SNOMEDCT_US:54203008|UMLS:C0264353	hp.json		http://purl.obolibrary.org/obo/HP_0002780							
HP:0002781	biolink:PhenotypicFeature	Upper airway obstruction	Increased resistance to the passage of air in the upper airway.	UMLS:C0740852	hp.json	Upper airway obstruction	http://purl.obolibrary.org/obo/HP_0002781							hposlim_core
HP:0002783	biolink:PhenotypicFeature	Recurrent lower respiratory tract infections	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.	SNOMEDCT_US:448739000|SNOMEDCT_US:50417007|UMLS:C0149725|UMLS:C0585953|UMLS:C3163798	hp.json	Recurrent chest infections|Chronic lung infections|Lower respiratory tract infections	http://purl.obolibrary.org/obo/HP_0002783							
HP:0002786	biolink:PhenotypicFeature	Tracheobronchomalacia	Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.	MSH:D055089|SNOMEDCT_US:233788001|UMLS:C0340231	hp.json		http://purl.obolibrary.org/obo/HP_0002786							
HP:0002787	biolink:PhenotypicFeature	Tracheal calcification	Calcification (abnormal deposits of calcium) in the tracheal tissues.	SNOMEDCT_US:81089005|UMLS:C0264324	hp.json	Tracheal calcifications|Calcification of the trachea|Tracheal ectopic calcification	http://purl.obolibrary.org/obo/HP_0002787							
HP:0002788	biolink:PhenotypicFeature	Recurrent upper respiratory tract infections	An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).	SNOMEDCT_US:195708003|UMLS:C0581381	hp.json	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							
HP:0002789	biolink:PhenotypicFeature	Tachypnea	Very rapid breathing.	MSH:D059246|SNOMEDCT_US:271823003|UMLS:C0231835	hp.json	Increased respiratory rate or depth of breathing|Polypnea	http://purl.obolibrary.org/obo/HP_0002789							
HP:0002790	biolink:PhenotypicFeature	Neonatal breathing dysregulation		UMLS:C3806216	hp.json	Impaired breathing in newborn	http://purl.obolibrary.org/obo/HP_0002790							
HP:0002791	biolink:PhenotypicFeature	Hypoventilation	A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).	MSH:D007040|MSH:D012131|SNOMEDCT_US:15993004|SNOMEDCT_US:31515003|SNOMEDCT_US:80954004|UMLS:C0235063|UMLS:C3203358	hp.json	Slow breathing|Under breathing|Alveolar hypoventilation|Respiratory depression	http://purl.obolibrary.org/obo/HP_0002791							
HP:0002792	biolink:PhenotypicFeature	Reduced vital capacity	An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.	SNOMEDCT_US:274715008|SNOMEDCT_US:607007|UMLS:C0476408|UMLS:C0520831	hp.json	Decreased vital capacity	http://purl.obolibrary.org/obo/HP_0002792							
HP:0002793	biolink:PhenotypicFeature	Abnormal pattern of respiration	An anomaly of the rhythm or depth of breathing.	UMLS:C1837388	hp.json	Abnormal pattern of respiration|Abnormal respiratory patterns|Unusual breathing patterns	http://purl.obolibrary.org/obo/HP_0002793							
HP:0002795	biolink:PhenotypicFeature	Abnormal respiratory system physiology		Fyler:4200|UMLS:C4025677	hp.json	Functional respiratory abnormality|Respiratory problem|Abnormal respiration	http://purl.obolibrary.org/obo/HP_0002795							
HP:0002797	biolink:PhenotypicFeature	Osteolysis	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.	MSH:D010014|SNOMEDCT_US:203522001|SNOMEDCT_US:30425001|UMLS:C0221204	hp.json	Breakdown of bone|Increased bone resorption|Osteolytic defects of bones	http://purl.obolibrary.org/obo/HP_0002797							
HP:0002803	biolink:PhenotypicFeature	Congenital contracture	One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.	UMLS:C0332878	hp.json	Congenital joint contractures|congenital contractures	http://purl.obolibrary.org/obo/HP_0002803							
HP:0002804	biolink:PhenotypicFeature	Arthrogryposis multiplex congenita	Multiple congenital contractures in different body areas.	MSH:D001176|SNOMEDCT_US:111246005|SNOMEDCT_US:77016009|UMLS:C0003886	hp.json	Arthrogryposis|Arthrogryposis multiplex|Arthrogryposis, congenital|Multiple congenital contractures	http://purl.obolibrary.org/obo/HP_0002804							
HP:0002805	biolink:PhenotypicFeature	Accelerated bone age after puberty		UMLS:C1860825	hp.json	Accelerated bone age after puberty	http://purl.obolibrary.org/obo/HP_0002805							
HP:0002808	biolink:PhenotypicFeature	Kyphosis	Exaggerated anterior convexity of the thoracic vertebral column.	MSH:D007738|SNOMEDCT_US:414564002|UMLS:C0022821|UMLS:C1845112	hp.json	Hunched back|Round back|Gibbus deformity|Hyperkyphosis	http://purl.obolibrary.org/obo/HP_0002808							hposlim_core
HP:0002810	biolink:PhenotypicFeature	Dumbbell-shaped metaphyses		UMLS:C3277123	hp.json	Dumbbell shaped wide portion of long bone|Dumbbell shaped metaphyses|Dumbbell shaped metaphysis	http://purl.obolibrary.org/obo/HP_0002810							
HP:0002812	biolink:PhenotypicFeature	Coxa vara	Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.	MSH:D060905|SNOMEDCT_US:74820003|UMLS:C0239138	hp.json		http://purl.obolibrary.org/obo/HP_0002812							
HP:0002813	biolink:PhenotypicFeature	Abnormality of limb bone morphology	Any abnormality of bones of the arms or legs.	UMLS:C4082761	hp.json	Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality	http://purl.obolibrary.org/obo/HP_0002813							
HP:0002814	biolink:PhenotypicFeature	Abnormality of the lower limb	An abnormality of the leg.	SNOMEDCT_US:449715001|UMLS:C1096086	hp.json	Abnormality of the lower limb|Lower limb deformities|Abnormality of the leg	http://purl.obolibrary.org/obo/HP_0002814							hposlim_core
HP:0002815	biolink:PhenotypicFeature	Abnormality of the knee	An abnormality of the knee joint or surrounding structures.	UMLS:C4025676	hp.json	Abnormality of the knee	http://purl.obolibrary.org/obo/HP_0002815							hposlim_core
HP:0002816	biolink:PhenotypicFeature	Genu recurvatum	An abnormally increased extension of the knee joint, so that the knee can bend backwards.	MEDDRA:10018194|UMLS:C0546964	hp.json	Back knee|Knee hyperextension|Genu recurvata	http://purl.obolibrary.org/obo/HP_0002816							hposlim_core
HP:0002817	biolink:PhenotypicFeature	Abnormality of the upper limb	An abnormality of the arm.	UMLS:C4020900	hp.json	Abnormality of the upper limb|Abnormality of the arm	http://purl.obolibrary.org/obo/HP_0002817							
HP:0002818	biolink:PhenotypicFeature	Abnormality of the radius	An abnormality of the radius.	UMLS:C4025675	hp.json		http://purl.obolibrary.org/obo/HP_0002818							hposlim_core
HP:0002821	biolink:PhenotypicFeature	Neuropathic arthropathy		MSH:D001177|SNOMEDCT_US:359554008|SNOMEDCT_US:67536000|UMLS:C0003892	hp.json	Charcot arthropathy|Charcot joint	http://purl.obolibrary.org/obo/HP_0002821							
HP:0002822	biolink:PhenotypicFeature	Hyperplasia of the femoral trochanters		UMLS:C3277120	hp.json	Hyperplastic femoral trochanters	http://purl.obolibrary.org/obo/HP_0002822							
HP:0002823	biolink:PhenotypicFeature	Abnormality of femur morphology	Any anomaly of the structure of the femur.	UMLS:C4021750	hp.json	Abnormality of the thighbone|Abnormality of the femora	http://purl.obolibrary.org/obo/HP_0002823							
HP:0002825	biolink:PhenotypicFeature	Caudal appendage	The presence of a tail-like skin appendage located adjacent to the sacrum.	UMLS:C3277117	hp.json	Human tail|Coccygeal tail	http://purl.obolibrary.org/obo/HP_0002825							hposlim_core
HP:0002826	biolink:PhenotypicFeature	Halberd-shaped pelvis	An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).	UMLS:C3277119	hp.json	Halberd-shaped pelvis bone	http://purl.obolibrary.org/obo/HP_0002826							
HP:0002827	biolink:PhenotypicFeature	Hip dislocation	Displacement of the femur from its normal location in the hip joint.	MSH:D006617|SNOMEDCT_US:157265008|UMLS:C0019554	hp.json	Dislocated hips|Dislocation of hip|Hip dislocation	http://purl.obolibrary.org/obo/HP_0002827							
HP:0002828	biolink:PhenotypicFeature	Multiple joint contractures		SNOMEDCT_US:19393004|SNOMEDCT_US:202264009|UMLS:C0158118	hp.json		http://purl.obolibrary.org/obo/HP_0002828							
HP:0002829	biolink:PhenotypicFeature	Arthralgia	Joint pain.	MSH:D018771|SNOMEDCT_US:57676002|UMLS:C0003862	hp.json	Joint pain|Joint pains|Arthralgias|Arthritic pain	http://purl.obolibrary.org/obo/HP_0002829							
HP:0002831	biolink:PhenotypicFeature	Long coccyx		UMLS:C3277116	hp.json	Long tailbone	http://purl.obolibrary.org/obo/HP_0002831							
HP:0002832	biolink:PhenotypicFeature	Calcific stippling	An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).	UMLS:C1849993	hp.json	Discrete calcific stippling	http://purl.obolibrary.org/obo/HP_0002832							
HP:0002833	biolink:PhenotypicFeature	Cystic angiomatosis of bone	Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.	UMLS:C4021749	hp.json	Lytic cystic lesions in appendicular bones	http://purl.obolibrary.org/obo/HP_0002833							
HP:0002834	biolink:PhenotypicFeature	Flared femoral metaphysis		UMLS:C4025674	hp.json	Flared metaphysis of thigh bone	http://purl.obolibrary.org/obo/HP_0002834							
HP:0002835	biolink:PhenotypicFeature	Aspiration	Inspiration of a foreign object into the airway.	SNOMEDCT_US:413585005|SNOMEDCT_US:68052005|UMLS:C0700198|UMLS:C2712334	hp.json	Pulmonary aspiration	http://purl.obolibrary.org/obo/HP_0002835							
HP:0002836	biolink:PhenotypicFeature	Bladder exstrophy	Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.	MSH:D001746|SNOMEDCT_US:61758007|UMLS:C0005689	hp.json	Ectopia vesicae	http://purl.obolibrary.org/obo/HP_0002836							
HP:0002837	biolink:PhenotypicFeature	Recurrent bronchitis	An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.	UMLS:C0741796	hp.json	Bronchitis, recurrent	http://purl.obolibrary.org/obo/HP_0002837							
HP:0002839	biolink:PhenotypicFeature	Urinary bladder sphincter dysfunction	Abnormal function of a sphincter of the urinary bladder.	UMLS:C1843663	hp.json	Sphincter disturbance|Sphincter disturbances	http://purl.obolibrary.org/obo/HP_0002839							
HP:0002840	biolink:PhenotypicFeature	Lymphadenitis	Inflammation of a lymph node.	MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205	hp.json	Inflammation of the lymph nodes	http://purl.obolibrary.org/obo/HP_0002840							
HP:0002841	biolink:PhenotypicFeature	Recurrent fungal infections	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.	UMLS:C1844384	hp.json	Recurrent fungal infections	http://purl.obolibrary.org/obo/HP_0002841							
HP:0002842	biolink:PhenotypicFeature	Recurrent Burkholderia cepacia infections	Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.	UMLS:C4025673	hp.json		http://purl.obolibrary.org/obo/HP_0002842							
HP:0002843	biolink:PhenotypicFeature	Abnormal T cell morphology	An abnormality of T cells.	UMLS:C1855752	hp.json	Abnormal T cells|Abnormality of T cells|Cellular immune defect|Defective cellular immunity	http://purl.obolibrary.org/obo/HP_0002843							
HP:0002845	biolink:PhenotypicFeature	obsolete Increased proportion of peripheral CD3+ T cells			hp.json		http://purl.obolibrary.org/obo/HP_0002845							
HP:0002846	biolink:PhenotypicFeature	Abnormal B cell morphology	A structural abnormality of B cells.	UMLS:C4021748	hp.json	Abnormal B cells|Abnormality of B cells	http://purl.obolibrary.org/obo/HP_0002846							
HP:0002847	biolink:PhenotypicFeature	Impaired memory B cell generation	Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.	UMLS:C4025672	hp.json		http://purl.obolibrary.org/obo/HP_0002847							
HP:0002848	biolink:PhenotypicFeature	Decreased specific anti-polysaccharide antibody level	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.	UMLS:C4021747	hp.json	Depressed antibody response to polysaccharide antigens|Low specific anti-polysaccharide antibody titer|Specific anti-polysaccharide antibody deficiency	http://purl.obolibrary.org/obo/HP_0002848							
HP:0002849	biolink:PhenotypicFeature	Absence of lymph node germinal center	Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.	UMLS:C1847383	hp.json	Absence of lymph node germinal centre|Lymph nodes lack germinal centre|Lymphoid germinal centre defect|Lymph nodes lack germinal center|Lymphoid germinal center defect	http://purl.obolibrary.org/obo/HP_0002849							
HP:0002850	biolink:PhenotypicFeature	Decreased circulating total IgM	An abnormally decreased level of immunoglobulin M (IgM) in blood.	UMLS:C0239989	hp.json	Decreased IgM|Decreased IgM level|IgM deficiency|Reduced IgM levels	http://purl.obolibrary.org/obo/HP_0002850							
HP:0002851	biolink:PhenotypicFeature	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.	UMLS:C1858973	hp.json	Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors	http://purl.obolibrary.org/obo/HP_0002851							
HP:0002853	biolink:PhenotypicFeature	Increased proportion of HLA DR+ T cells	An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.	UMLS:C1858974	hp.json		http://purl.obolibrary.org/obo/HP_0002853							
HP:0002857	biolink:PhenotypicFeature	Genu valgum	The legs angle inward, such that the knees are close together and the ankles far apart.	MEDDRA:10023480|MSH:D056304|SNOMEDCT_US:299330008|UMLS:C0576093	hp.json	Knock knees|Genu valga|Genu valgus|Genua valga|Knee joint valgus deformity	http://purl.obolibrary.org/obo/HP_0002857							hposlim_core
HP:0002858	biolink:PhenotypicFeature	Meningioma	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.	MSH:D008579|NCIT:C3230|UMLS:C0025286	hp.json	Noncancerous growth of membranes covering brain	http://purl.obolibrary.org/obo/HP_0002858							
HP:0002859	biolink:PhenotypicFeature	Rhabdomyosarcoma		MSH:D012208|NCIT:C3359|SNOMEDCT_US:302847003|SNOMEDCT_US:30924005|UMLS:C0035412	hp.json		http://purl.obolibrary.org/obo/HP_0002859							
HP:0002860	biolink:PhenotypicFeature	Squamous cell carcinoma	The presence of squamous cell carcinoma of the skin.	MSH:D002294|MSH:D018307|NCIT:C2929|SNOMEDCT_US:28899001|SNOMEDCT_US:402815007|UMLS:C0007137|UMLS:C0751688	hp.json	Squamous cell cancer	http://purl.obolibrary.org/obo/HP_0002860							
HP:0002861	biolink:PhenotypicFeature	Melanoma	The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).	MSH:D008545|NCIT:C3224|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006|UMLS:C0025202	hp.json	Cancer of skin pigment cells|Skin cancer (melanoma)|Malignant melanoma	http://purl.obolibrary.org/obo/HP_0002861							
HP:0002862	biolink:PhenotypicFeature	Bladder carcinoma	The presence of a carcinoma of the urinary bladder.	NCIT:C2916|SNOMEDCT_US:255108000|UMLS:C0699885	hp.json		http://purl.obolibrary.org/obo/HP_0002862							
HP:0002863	biolink:PhenotypicFeature	Myelodysplasia	Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.	MSH:D009190|SNOMEDCT_US:109995007|SNOMEDCT_US:128623006|SNOMEDCT_US:188736006|UMLS:C1851971|UMLS:C3463824	hp.json	Myelodysplastic syndrome|Hypoplastic myelodysplasia	http://purl.obolibrary.org/obo/HP_0002863							
HP:0002864	biolink:PhenotypicFeature	Paraganglioma of head and neck		UMLS:C1333944	hp.json	Paragangliomas, head and neck	http://purl.obolibrary.org/obo/HP_0002864							
HP:0002865	biolink:PhenotypicFeature	Medullary thyroid carcinoma	The presence of a medullary carcinoma of the thyroid gland.	MSH:C536914|NCIT:C3879|SNOMEDCT_US:128916007|SNOMEDCT_US:255032005|UMLS:C0238462	hp.json	Medullary thyroid cancer	http://purl.obolibrary.org/obo/HP_0002865							
HP:0002866	biolink:PhenotypicFeature	Hypoplastic iliac wing	Underdevelopment of the ilium ala.	UMLS:C1865027	hp.json	Hypoplastic iliac alae|Hypoplastic iliac wings|Small iliac wings	http://purl.obolibrary.org/obo/HP_0002866							hposlim_core
HP:0002867	biolink:PhenotypicFeature	Abnormal ilium morphology	An abnormality of the ilium, the largest and uppermost bone of the pelvis.	UMLS:C4021746	hp.json	Abnormality of the ilium|Iliac abnormalities	http://purl.obolibrary.org/obo/HP_0002867							hposlim_core
HP:0002868	biolink:PhenotypicFeature	Narrow iliac wing	Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).	UMLS:C1836688	hp.json	Narrow iliac wings	http://purl.obolibrary.org/obo/HP_0002868							hposlim_core
HP:0002869	biolink:PhenotypicFeature	Flared iliac wing	Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.	UMLS:C1865841	hp.json	Flared iliac wings	http://purl.obolibrary.org/obo/HP_0002869							hposlim_core
HP:0002870	biolink:PhenotypicFeature	Obstructive sleep apnea	A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.	MSH:D020181|SNOMEDCT_US:78275009|UMLS:C0520679	hp.json	Obstructive sleep apnoea	http://purl.obolibrary.org/obo/HP_0002870							
HP:0002871	biolink:PhenotypicFeature	Central apnea	Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.	MSH:D020182|UMLS:C0520680	hp.json	Central apnoea	http://purl.obolibrary.org/obo/HP_0002871							
HP:0002872	biolink:PhenotypicFeature	Apneic episodes precipitated by illness, fatigue, stress	Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.	UMLS:C3806462	hp.json	Episodic apnea induced by febrile illness or stress	http://purl.obolibrary.org/obo/HP_0002872							
HP:0002875	biolink:PhenotypicFeature	Exertional dyspnea	Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.	SNOMEDCT_US:60845006|UMLS:C0231807	hp.json	Exertional breathlessness|Shortness of breathing upon physical activity|Exertional dyspnoea	http://purl.obolibrary.org/obo/HP_0002875							
HP:0002876	biolink:PhenotypicFeature	Episodic tachypnea	Episodes of very rapid breathing.	UMLS:C3806218	hp.json	Hyperpnea, episodic	http://purl.obolibrary.org/obo/HP_0002876							
HP:0002877	biolink:PhenotypicFeature	Nocturnal hypoventilation		UMLS:C1843643	hp.json	Nocturnal hypopnea|Nocturnal slow breathing|Nocturnal under breathing	http://purl.obolibrary.org/obo/HP_0002877							
HP:0002878	biolink:PhenotypicFeature	Respiratory failure	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.	MSH:D012131|SNOMEDCT_US:409622000|UMLS:C1145670	hp.json	Respiratory failure	http://purl.obolibrary.org/obo/HP_0002878							
HP:0002879	biolink:PhenotypicFeature	Anisospondyly	Abnormally increased variability of the size of the vertebral bodies.	UMLS:C1857101	hp.json		http://purl.obolibrary.org/obo/HP_0002879							
HP:0002880	biolink:PhenotypicFeature	obsolete Respiratory difficulties			hp.json		http://purl.obolibrary.org/obo/HP_0002880							
HP:0002882	biolink:PhenotypicFeature	Sudden episodic apnea	Recurrent bouts of sudden, severe apnea that may be life-threatening.	UMLS:C4025671	hp.json		http://purl.obolibrary.org/obo/HP_0002882							
HP:0002883	biolink:PhenotypicFeature	Hyperventilation	Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.	MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578	hp.json	Rapid breathing	http://purl.obolibrary.org/obo/HP_0002883							
HP:0002884	biolink:PhenotypicFeature	Hepatoblastoma	A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.	MSH:D018197|NCIT:C3728|SNOMEDCT_US:109843000|SNOMEDCT_US:45024009|UMLS:C0206624	hp.json		http://purl.obolibrary.org/obo/HP_0002884							
HP:0002885	biolink:PhenotypicFeature	Medulloblastoma	A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.	MSH:D008527|NCIT:C3222|SNOMEDCT_US:443333004|SNOMEDCT_US:83217000|UMLS:C0025149	hp.json		http://purl.obolibrary.org/obo/HP_0002885							
HP:0002886	biolink:PhenotypicFeature	Vagal paraganglioma	A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.	SNOMEDCT_US:253030004|UMLS:C0474819	hp.json	Glomus vagale tumour|Vagal nerve tumours|Glomus vagale tumor|Vagal nerve tumors|Glomus vagale paraganglioma	http://purl.obolibrary.org/obo/HP_0002886							
HP:0002888	biolink:PhenotypicFeature	Ependymoma	The presence of an ependymoma of the central nervous system.	MSH:D004806|NCIT:C3017|SNOMEDCT_US:443643007|SNOMEDCT_US:57706008|UMLS:C0014474	hp.json		http://purl.obolibrary.org/obo/HP_0002888							
HP:0002890	biolink:PhenotypicFeature	Thyroid carcinoma	The presence of a carcinoma of the thyroid gland.	MSH:D013964|NCIT:C2916|UMLS:C0549473	hp.json		http://purl.obolibrary.org/obo/HP_0002890							
HP:0002891	biolink:PhenotypicFeature	Uterine leiomyosarcoma	The presence of a leiomyosarcoma of the uterus.	NCIT:C3158|SNOMEDCT_US:447389009|UMLS:C0280631	hp.json		http://purl.obolibrary.org/obo/HP_0002891							
HP:0002893	biolink:PhenotypicFeature	Pituitary adenoma	A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.	ICD-O:M8272/0|MSH:D010911|NCIT:C2855|SNOMEDCT_US:128664001|SNOMEDCT_US:254956000|UMLS:C0032000	hp.json	Noncancerous tumor in pituitary gland|Noncancerous tumour in pituitary gland	http://purl.obolibrary.org/obo/HP_0002893							
HP:0002894	biolink:PhenotypicFeature	Neoplasm of the pancreas	A tumor (abnormal growth of tissue) of the pancreas.	MSH:D010190|NCIT:C3262|SNOMEDCT_US:126859007|SNOMEDCT_US:363418001|UMLS:C0030297|UMLS:C0346647|UMLS:C1842408	hp.json	Cancer of the pancreas|Pancreatic cancer|Pancreatic tumor|Pancreatic tumour|increased risk of pancreatic cancer|Neoplasia of the pancreas	http://purl.obolibrary.org/obo/HP_0002894							
HP:0002895	biolink:PhenotypicFeature	Papillary thyroid carcinoma	The presence of a papillary adenocarcinoma of the thyroid gland.	MSH:C536915|NCIT:C2853|SNOMEDCT_US:255029007|UMLS:C0238463	hp.json	Papillary carcinoma of thyroid|Thyroid papillary carcinoma	http://purl.obolibrary.org/obo/HP_0002895							
HP:0002896	biolink:PhenotypicFeature	Neoplasm of the liver	A tumor (abnormal growth of tissue) of the liver.	MSH:D008113|NCIT:C3262|SNOMEDCT_US:126851005|SNOMEDCT_US:93870000|UMLS:C0023903|UMLS:C0345904	hp.json	Liver cancer|Liver tumor|Liver tumour	http://purl.obolibrary.org/obo/HP_0002896							
HP:0002897	biolink:PhenotypicFeature	Parathyroid adenoma	A benign tumor of the parathyroid gland that can cause hyperparathyroidism.	ICD-10:D35.1|MSH:D010282|NCIT:C2855|SNOMEDCT_US:128474007|UMLS:C0262587	hp.json	Parathyroid adenomas	http://purl.obolibrary.org/obo/HP_0002897							
HP:0002898	biolink:PhenotypicFeature	Embryonal neoplasm		MSH:D009373|UMLS:C0027654	hp.json	Embryonal tumours|Embryonal neoplasia|Embryonal tumors	http://purl.obolibrary.org/obo/HP_0002898							
HP:0002900	biolink:PhenotypicFeature	Hypokalemia	An abnormally decreased potassium concentration in the blood.	MSH:D007008|SNOMEDCT_US:166690008|SNOMEDCT_US:43339004|UMLS:C0020621	hp.json	Low blood potassium levels	http://purl.obolibrary.org/obo/HP_0002900							
HP:0002901	biolink:PhenotypicFeature	Hypocalcemia	An abnormally decreased calcium concentration in the blood.	MSH:D006996|SNOMEDCT_US:5291005|UMLS:C0020598	hp.json	Low blood calcium levels|Hypocalcaemia	http://purl.obolibrary.org/obo/HP_0002901							
HP:0002902	biolink:PhenotypicFeature	Hyponatremia	An abnormally decreased sodium concentration in the blood.	MSH:D007010|SNOMEDCT_US:89627008|UMLS:C0020625	hp.json	Low blood sodium levels	http://purl.obolibrary.org/obo/HP_0002902							
HP:0002904	biolink:PhenotypicFeature	Hyperbilirubinemia	An increased amount of bilirubin in the blood.	SNOMEDCT_US:26165005|UMLS:C0311468	hp.json	High blood bilirubin levels	http://purl.obolibrary.org/obo/HP_0002904							
HP:0002905	biolink:PhenotypicFeature	Hyperphosphatemia	An abnormally increased phosphate concentration in the blood.	MSH:D054559|SNOMEDCT_US:20165001|UMLS:C0085681|UMLS:C0553706	hp.json	High blood phosphate levels	http://purl.obolibrary.org/obo/HP_0002905							
HP:0002907	biolink:PhenotypicFeature	Microscopic hematuria	Microscopic hematuria detected by dipstick or microscopic examination of the urine.	SNOMEDCT_US:197940006|UMLS:C0239937	hp.json	Small amount of blood in urine|Microhematuria|Occult hematuria	http://purl.obolibrary.org/obo/HP_0002907							
HP:0002908	biolink:PhenotypicFeature	Conjugated hyperbilirubinemia		SNOMEDCT_US:9326001|UMLS:C0268307	hp.json	Direct hyperbilirubinemia	http://purl.obolibrary.org/obo/HP_0002908							
HP:0002909	biolink:PhenotypicFeature	Generalized aminoaciduria	An increased concentration of all types of amino acid in the urine.	UMLS:C1847868	hp.json	Generalised aminoaciduria|Generalised nonspecific aminoaciduria|Generalized nonspecific aminoaciduria	http://purl.obolibrary.org/obo/HP_0002909							
HP:0002910	biolink:PhenotypicFeature	Elevated hepatic transaminase	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.	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	hp.json	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							
HP:0002912	biolink:PhenotypicFeature	Methylmalonic acidemia	Increased concentration of methylmalonic acid in the blood.	MSH:C537358|SNOMEDCT_US:42393006|UMLS:C0268583	hp.json	Elevated circulating methylmalonic acid concentration	http://purl.obolibrary.org/obo/HP_0002912							
HP:0002913	biolink:PhenotypicFeature	Myoglobinuria	Presence of myoglobin in the urine.	MSH:D009212|SNOMEDCT_US:48165008|UMLS:C0027080	hp.json		http://purl.obolibrary.org/obo/HP_0002913							
HP:0002914	biolink:PhenotypicFeature	Hyperchloriduria	An increased concentration of chloride in the urine.	UMLS:C1846352	hp.json	Increased urinary chloride	http://purl.obolibrary.org/obo/HP_0002914							
HP:0002916	biolink:PhenotypicFeature	Abnormality of chromosome segregation	An abnormality of chromosome segregation.	UMLS:C4025670	hp.json		http://purl.obolibrary.org/obo/HP_0002916							
HP:0002917	biolink:PhenotypicFeature	Hypomagnesemia	An abnormally decreased magnesium concentration in the blood.	SNOMEDCT_US:190855004|UMLS:C0151723	hp.json	Low blood Mg levels|Low blood magnesium levels	http://purl.obolibrary.org/obo/HP_0002917							
HP:0002918	biolink:PhenotypicFeature	Hypermagnesemia	An abnormally increased magnesium concentration in the blood.	SNOMEDCT_US:66978005|UMLS:C0151714	hp.json	High blood Mg levels|High blood magnesium levels	http://purl.obolibrary.org/obo/HP_0002918							
HP:0002919	biolink:PhenotypicFeature	Ketonuria	High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.	MSH:D007662|SNOMEDCT_US:274783007|SNOMEDCT_US:36815008|UMLS:C0162275	hp.json	Ketonaciduria|Ketone bodies in urine|Acetonuria|Ketoaciduria	http://purl.obolibrary.org/obo/HP_0002919							
HP:0002920	biolink:PhenotypicFeature	Decreased circulating ACTH level	An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.	UMLS:C4025669	hp.json		http://purl.obolibrary.org/obo/HP_0002920							
HP:0002921	biolink:PhenotypicFeature	Abnormality of the cerebrospinal fluid	An abnormality of the cerebrospinal fluid (CSF).	UMLS:C0151583	hp.json	Abnormal CSF findings|Abnormality of the CSF	http://purl.obolibrary.org/obo/HP_0002921							
HP:0002922	biolink:PhenotypicFeature	Increased CSF protein	Increased concentration of protein in the cerebrospinal fluid.	UMLS:C1806780	hp.json	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							
HP:0002923	biolink:PhenotypicFeature	Rheumatoid factor positive	The presence in the serum of an autoantibody directed against the Fc portion of IgG.	SNOMEDCT_US:165839004|UMLS:C0151379	hp.json		http://purl.obolibrary.org/obo/HP_0002923							
HP:0002924	biolink:PhenotypicFeature	obsolete Decreased circulating aldosterone level			hp.json		http://purl.obolibrary.org/obo/HP_0002924							
HP:0002925	biolink:PhenotypicFeature	Elevated circulating thyroid-stimulating hormone concentration	Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.	SNOMEDCT_US:309080005|UMLS:C0586553	hp.json	High TSH|TSH excess|Elevated thyroid stimulating hormone|Elevated thyroid stimulating hormone levels|Increased serum thyroid-stimulating hormone|Increased thyroid-stimulating hormone|Increased thyroid-stimulating hormone level|Increased thyrotropin level|Thyroid-stimulating hormone excess	http://purl.obolibrary.org/obo/HP_0002925							
HP:0002926	biolink:PhenotypicFeature	Abnormality of thyroid physiology	An abnormal functionality of the thyroid gland.	UMLS:C0857576	hp.json	Abnormal thyroid function	http://purl.obolibrary.org/obo/HP_0002926							
HP:0002927	biolink:PhenotypicFeature	Histidinuria	An increased concentration of histidine in the urine.	MSH:C538321|SNOMEDCT_US:78311009|UMLS:C0268642	hp.json	High urine histidine levels|Elevated histidine in urine	http://purl.obolibrary.org/obo/HP_0002927							
HP:0002928	biolink:PhenotypicFeature	Decreased activity of the pyruvate dehydrogenase complex		UMLS:C1839888	hp.json	Decreased activity of the PDH complex|Pyruvate dehydrogenase complex deficiency	http://purl.obolibrary.org/obo/HP_0002928							
HP:0002929	biolink:PhenotypicFeature	Leydig cell insensitivity to gonadotropin		UMLS:C4025668	hp.json		http://purl.obolibrary.org/obo/HP_0002929							
HP:0002930	biolink:PhenotypicFeature	Impaired sensitivity to thyroid hormone	Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.	MSH:D018382|SNOMEDCT_US:111567006|SNOMEDCT_US:237559000|SNOMEDCT_US:237560005|SNOMEDCT_US:50375007|UMLS:C2940786	hp.json	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							
HP:0002932	biolink:PhenotypicFeature	Aldehyde oxidase deficiency	A reduction in aldehyde oxidase level.	SNOMEDCT_US:124161002|UMLS:C1291266	hp.json		http://purl.obolibrary.org/obo/HP_0002932							
HP:0002933	biolink:PhenotypicFeature	Ventral hernia	Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.	MSH:D006555|SNOMEDCT_US:414396006|UMLS:C0019326	hp.json		http://purl.obolibrary.org/obo/HP_0002933							
HP:0002936	biolink:PhenotypicFeature	Distal sensory impairment	An abnormal reduction in sensation in the distal portions of the extremities.	UMLS:C1847584	hp.json	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							
HP:0002937	biolink:PhenotypicFeature	Hemivertebrae	Absence of one half of the vertebral body.	SNOMEDCT_US:68359008|UMLS:C0265677	hp.json	Missing part of vertebrae|Hemi-vertebrae|Hemivertebra	http://purl.obolibrary.org/obo/HP_0002937							hposlim_core
HP:0002938	biolink:PhenotypicFeature	Lumbar hyperlordosis	An abnormal accentuation of the inward curvature of the spine in the lumbar region.	UMLS:C1184923	hp.json	Excessive inward curvature of lower spine|Exaggerated lumbar lordosis|Increased lumbar lordosis|Lumbar lordosis|Prominent lumbar lordosis	http://purl.obolibrary.org/obo/HP_0002938							
HP:0002942	biolink:PhenotypicFeature	Thoracic kyphosis	Over curvature of the thoracic region, leading to a round back or if sever to a hump.	UMLS:C1184919	hp.json	Accentuated thoracic kyphosis|Exaggerated thoracic kyphosis	http://purl.obolibrary.org/obo/HP_0002942							
HP:0002943	biolink:PhenotypicFeature	Thoracic scoliosis		UMLS:C1857790	hp.json		http://purl.obolibrary.org/obo/HP_0002943							
HP:0002944	biolink:PhenotypicFeature	Thoracolumbar scoliosis		UMLS:C0749379	hp.json	Scoliosis, thoracolumbar	http://purl.obolibrary.org/obo/HP_0002944							
HP:0002945	biolink:PhenotypicFeature	Intervertebral space narrowing	Decreased height of the intervertebral disk.	SNOMEDCT_US:11301007|UMLS:C0263870	hp.json	Narrow intervertebral disc spaces|Narrow intervertebral spaces	http://purl.obolibrary.org/obo/HP_0002945							
HP:0002946	biolink:PhenotypicFeature	Supernumerary vertebrae		SNOMEDCT_US:87294007|UMLS:C0265681	hp.json		http://purl.obolibrary.org/obo/HP_0002946							
HP:0002947	biolink:PhenotypicFeature	Cervical kyphosis	Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.	SNOMEDCT_US:298393001|UMLS:C0575170	hp.json	Rounded neck	http://purl.obolibrary.org/obo/HP_0002947							
HP:0002948	biolink:PhenotypicFeature	Vertebral fusion	A developmental defect leading to the union of two adjacent vertebrae.	UMLS:C1835763|UMLS:C1849073|UMLS:C3278509	hp.json	Spinal fusion|Fused vertebrae|Fusion of vertebral bodies|Vertebral body fusion	http://purl.obolibrary.org/obo/HP_0002948							hposlim_core
HP:0002949	biolink:PhenotypicFeature	Fused cervical vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.	UMLS:C3887527	hp.json	Fused neck|Cervical spine fusion|Cervical vertebral fusion|Fusion of cervical vertebrae	http://purl.obolibrary.org/obo/HP_0002949							
HP:0002951	biolink:PhenotypicFeature	Partial absence of cerebellar vermis	Congenital absence of a part of the vermis of cerebellum.	UMLS:C4025667	hp.json		http://purl.obolibrary.org/obo/HP_0002951							
HP:0002953	biolink:PhenotypicFeature	Vertebral compression fracture		SNOMEDCT_US:42942008|SNOMEDCT_US:84138006|UMLS:C0262431|UMLS:C0410550	hp.json	Compression fracture of a vertebral body|Vertebral compression fractures|Fractures of vertebral bodies|Vertebral body compression|Vertebral collapse|Vertebral compression|Vertebral compression or collapse	http://purl.obolibrary.org/obo/HP_0002953							
HP:0002955	biolink:PhenotypicFeature	Granulomatosis	A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.	SNOMEDCT_US:443138004|SNOMEDCT_US:44328006|UMLS:C0521173	hp.json		http://purl.obolibrary.org/obo/HP_0002955							
HP:0002958	biolink:PhenotypicFeature	Immune dysregulation	Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.	UMLS:C1844666	hp.json	Immune dysregulation|Unregulated immune response	http://purl.obolibrary.org/obo/HP_0002958							
HP:0002959	biolink:PhenotypicFeature	Impaired Ig class switch recombination	An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.	UMLS:C1842528	hp.json	Impaired B-lymphocyte isotype switching	http://purl.obolibrary.org/obo/HP_0002959							
HP:0002960	biolink:PhenotypicFeature	Autoimmunity	The occurrence of an immune reaction against the organism's own cells or tissues.	MSH:D001327|SNOMEDCT_US:85828009|UMLS:C0004364	hp.json	Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition	http://purl.obolibrary.org/obo/HP_0002960							
HP:0002961	biolink:PhenotypicFeature	Dysgammaglobulinemia	Selective deficiency of one or more, but not all, classes of immunoglobulins.	MSH:D004406|SNOMEDCT_US:123782009|UMLS:C0013374	hp.json		http://purl.obolibrary.org/obo/HP_0002961							
HP:0002963	biolink:PhenotypicFeature	Abnormal delayed hypersensitivity skin test	Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.	UMLS:C1833172	hp.json		http://purl.obolibrary.org/obo/HP_0002963							
HP:0002965	biolink:PhenotypicFeature	Cutaneous anergy	Inability to react to a delayed hypersensitivity skin test.	UMLS:C1855781	hp.json	Absence of delayed hypersensitivity skin test|Lack of delayed skin hypersensitivity reaction	http://purl.obolibrary.org/obo/HP_0002965							
HP:0002967	biolink:PhenotypicFeature	Cubitus valgus	Abnormal positioning in which the elbows are turned out.	SNOMEDCT_US:54583007|UMLS:C0158465	hp.json	Outward turned elbows	http://purl.obolibrary.org/obo/HP_0002967							hposlim_core
HP:0002970	biolink:PhenotypicFeature	Genu varum	A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	hp.json	Outward bow-leggedness|Outward bowing at knees|Genu vara|Genua vara	http://purl.obolibrary.org/obo/HP_0002970							hposlim_core
HP:0002971	biolink:PhenotypicFeature	Absent microvilli on the surface of peripheral blood lymphocytes	Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.	UMLS:C1833173	hp.json		http://purl.obolibrary.org/obo/HP_0002971							
HP:0002972	biolink:PhenotypicFeature	Reduced delayed hypersensitivity	Decreased ability to react to a delayed hypersensitivity skin test.	UMLS:C1843386	hp.json	Decreased reactivity to skin test antigens|Deficiency of delayed skin hypersensitivity|Impaired delayed hypersensitivity	http://purl.obolibrary.org/obo/HP_0002972							
HP:0002973	biolink:PhenotypicFeature	Abnormality of the forearm	An abnormality of the lower arm.	UMLS:C4025666	hp.json	Abnormality of the forearm	http://purl.obolibrary.org/obo/HP_0002973							hposlim_core
HP:0002974	biolink:PhenotypicFeature	Radioulnar synostosis	An abnormal osseous union (fusion) between the radius and the ulna.	MEDDRA:10037798|MSH:C562408|SNOMEDCT_US:33313004|UMLS:C0158761	hp.json	Fused forearm bones	http://purl.obolibrary.org/obo/HP_0002974							hposlim_core
HP:0002977	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the central nervous system	Absence or underdevelopment of tissue in the central nervous system.	UMLS:C4025665	hp.json	Aplasia/Hypoplasia involving the CNS|Absent/underdeveloped central nervous system tissue	http://purl.obolibrary.org/obo/HP_0002977							
HP:0002979	biolink:PhenotypicFeature	Bowing of the legs	A bending or abnormal curvature affecting a long bone of the leg.	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	hp.json	Bowed legs|Bowed lower limbs|Bow legs|Bow-leggedness	http://purl.obolibrary.org/obo/HP_0002979							
HP:0002980	biolink:PhenotypicFeature	Femoral bowing	Bowing (abnormal curvature) of the femur.	UMLS:C1859461	hp.json	Bowed thighbone|Bowed femur|Bowed femura|Bowed femurs	http://purl.obolibrary.org/obo/HP_0002980							hposlim_core
HP:0002981	biolink:PhenotypicFeature	Abnormality of the calf	An abnormality of the calf, i.e. of the posterior part of the lower leg.	UMLS:C4021832	hp.json	Abnormality of the calf	http://purl.obolibrary.org/obo/HP_0002981							
HP:0002982	biolink:PhenotypicFeature	Tibial bowing	A bending or abnormal curvature of the tibia.	UMLS:C1837081	hp.json	Bowed shankbone|Bowed shinbone|Bowed tibia|Bowing of the tibia	http://purl.obolibrary.org/obo/HP_0002982							hposlim_core
HP:0002983	biolink:PhenotypicFeature	Micromelia	The presence of abnormally small extremities.	MEDDRA:10027546|SNOMEDCT_US:74370006|UMLS:C0025995	hp.json	Smaller or shorter than typical limbs	http://purl.obolibrary.org/obo/HP_0002983							hposlim_core
HP:0002984	biolink:PhenotypicFeature	Hypoplasia of the radius	Underdevelopment of the radius.	SNOMEDCT_US:205170001|SNOMEDCT_US:93288001|UMLS:C0685381|UMLS:C1840087	hp.json	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							hposlim_core
HP:0002986	biolink:PhenotypicFeature	Radial bowing	A bending or abnormal curvature of the radius.	UMLS:C1859399	hp.json	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							hposlim_core
HP:0002987	biolink:PhenotypicFeature	Elbow flexion contracture	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.	SNOMEDCT_US:202271004|UMLS:C0409338	hp.json	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							
HP:0002990	biolink:PhenotypicFeature	Fibular aplasia	Absence of the fibula.	MEDDRA:10054882|UMLS:C1836186	hp.json	Absent calf bone|Absent fibulae|Absent-hypoplastic fibulae	http://purl.obolibrary.org/obo/HP_0002990							hposlim_core
HP:0002991	biolink:PhenotypicFeature	Abnormality of fibula morphology	An anomaly of the calf bone (fibula), one of the two bones of the calf.	UMLS:C4025664	hp.json	Abnormality of the calf bone	http://purl.obolibrary.org/obo/HP_0002991							hposlim_core
HP:0002992	biolink:PhenotypicFeature	Abnormality of tibia morphology	Abnormality of the tibia (shinbone).	UMLS:C4025663	hp.json	Abnormality of the shankbone|Abnormality of the shinbone	http://purl.obolibrary.org/obo/HP_0002992							
HP:0002996	biolink:PhenotypicFeature	Limited elbow movement		UMLS:C1849955	hp.json	Decreased elbow mobility|Limited elbow mobility|Limited elbow movement|Restricted elbow motion	http://purl.obolibrary.org/obo/HP_0002996							
HP:0002997	biolink:PhenotypicFeature	Abnormality of the ulna	An abnormality of the ulna bone of the forearm.	UMLS:C4025662	hp.json		http://purl.obolibrary.org/obo/HP_0002997							hposlim_core
HP:0002999	biolink:PhenotypicFeature	Patellar dislocation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.	MSH:D031222|SNOMEDCT_US:263029007|UMLS:C1135812	hp.json	Dislocated kneecap|Dislocated patellae|Dislocation of patella	http://purl.obolibrary.org/obo/HP_0002999							
HP:0003001	biolink:PhenotypicFeature	Glomus jugular tumor		MSH:D005925|SNOMEDCT_US:127030001|SNOMEDCT_US:32037004|UMLS:C0017671	hp.json	Glomus jugular tumour|Glomus jugulare tumour|Glomus jugulare tumours|Glomus jugulare tumor|Glomus jugulare tumors	http://purl.obolibrary.org/obo/HP_0003001							
HP:0003002	biolink:PhenotypicFeature	Breast carcinoma	The presence of a carcinoma of the breast.	MSH:D001943|NCIT:C2916|SNOMEDCT_US:254838004|UMLS:C0678222	hp.json	Breast cancer	http://purl.obolibrary.org/obo/HP_0003002							
HP:0003003	biolink:PhenotypicFeature	Colon cancer		MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102	hp.json	Colon cancer	http://purl.obolibrary.org/obo/HP_0003003							
HP:0003005	biolink:PhenotypicFeature	Ganglioneuroma	A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.	MSH:D005729|SNOMEDCT_US:116371000119107|SNOMEDCT_US:128919000|SNOMEDCT_US:53801007|UMLS:C0017075	hp.json		http://purl.obolibrary.org/obo/HP_0003005							
HP:0003006	biolink:PhenotypicFeature	Neuroblastoma	Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.	MSH:D009447|NCIT:C3270|SNOMEDCT_US:432328008|SNOMEDCT_US:87364003|UMLS:C0027819	hp.json	Cancer of early nerve cells	http://purl.obolibrary.org/obo/HP_0003006							
HP:0003009	biolink:PhenotypicFeature	Enhanced neurotoxicity of vincristine		UMLS:C4025661	hp.json		http://purl.obolibrary.org/obo/HP_0003009							
HP:0003010	biolink:PhenotypicFeature	Prolonged bleeding time	Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.	UMLS:C0151529	hp.json	Prolonged bleeding time|Increased bleeding time	http://purl.obolibrary.org/obo/HP_0003010							
HP:0003011	biolink:PhenotypicFeature	Abnormality of the musculature	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.	UMLS:C4021745	hp.json	Muscular abnormality	http://purl.obolibrary.org/obo/HP_0003011							
HP:0003013	biolink:PhenotypicFeature	Bulging epiphyses	A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).	UMLS:C1833329	hp.json	Bulging end part of bone	http://purl.obolibrary.org/obo/HP_0003013							
HP:0003015	biolink:PhenotypicFeature	Flared metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.	UMLS:C1850135	hp.json	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							
HP:0003016	biolink:PhenotypicFeature	Metaphyseal widening	Abnormal widening of the metaphyseal regions of long bones.	UMLS:C1849039	hp.json	Broad wide portion of long bone|Wide metaphyses|Widened long bone metaphyses|Widened metaphyses	http://purl.obolibrary.org/obo/HP_0003016							
HP:0003019	biolink:PhenotypicFeature	Abnormality of the wrist	Abnormality of the wrist, the structure connecting the hand and the forearm.	UMLS:C4021744	hp.json	Abnormalities of the wrists|Abnormality of the wrist	http://purl.obolibrary.org/obo/HP_0003019							hposlim_core
HP:0003020	biolink:PhenotypicFeature	Enlargement of the wrists		UMLS:C1838663	hp.json	Enlargement of the wrists	http://purl.obolibrary.org/obo/HP_0003020							
HP:0003021	biolink:PhenotypicFeature	Metaphyseal cupping	Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.	UMLS:C1837082	hp.json		http://purl.obolibrary.org/obo/HP_0003021							
HP:0003022	biolink:PhenotypicFeature	Hypoplasia of the ulna	Underdevelopment of the ulna.	MSH:C538069|UMLS:C1860614|UMLS:C1862132	hp.json	Underdeveloped inner large forearm bone|Hypoplastic ulna|Short ulna|Short ulnae|Ulnar hypoplasia|Underdeveloped ulna	http://purl.obolibrary.org/obo/HP_0003022							hposlim_core
HP:0003023	biolink:PhenotypicFeature	Bowing of limbs due to multiple fractures	Curvature of the shafts of the long bones due to multiple fractures.	UMLS:C1850178	hp.json	Bowed limbs due to multiple fractures	http://purl.obolibrary.org/obo/HP_0003023							
HP:0003025	biolink:PhenotypicFeature	Metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphyses.	UMLS:C1838662	hp.json	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							
HP:0003026	biolink:PhenotypicFeature	Short long bone	One or more abnormally short long bone.	UMLS:C1854912	hp.json	Long bone shortening|Short long bone|Short tubular bones|shortened long tubular bones	http://purl.obolibrary.org/obo/HP_0003026							
HP:0003027	biolink:PhenotypicFeature	Mesomelia	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.	UMLS:C0549306	hp.json	Disproportionately short middle portion of limb|Mesomelic limb shortening|Mesomelic shortening of limbs|Symmetric mesomelic limb shortness	http://purl.obolibrary.org/obo/HP_0003027							
HP:0003028	biolink:PhenotypicFeature	Abnormality of the ankles		UMLS:C4025660	hp.json	Abnormality of the ankles	http://purl.obolibrary.org/obo/HP_0003028							hposlim_core
HP:0003029	biolink:PhenotypicFeature	Enlargement of the ankles		UMLS:C1838664	hp.json	Enlargement of the ankles	http://purl.obolibrary.org/obo/HP_0003029							
HP:0003031	biolink:PhenotypicFeature	Ulnar bowing	Bending of the diaphysis (shaft) of the ulna.	UMLS:C1865847	hp.json	Curving of inner forearm bone|Bowed ulna|Curved ulna	http://purl.obolibrary.org/obo/HP_0003031							hposlim_core
HP:0003034	biolink:PhenotypicFeature	Diaphyseal sclerosis	An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.	MSH:D003966|SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|UMLS:C0011989	hp.json	Increased bone density in shaft of long bone|Craniodiaphyseal osteosclerosis|Diaphyseal osteosclerosis	http://purl.obolibrary.org/obo/HP_0003034							
HP:0003037	biolink:PhenotypicFeature	Enlarged joints	Increase in size of one or more joints.	UMLS:C1859111	hp.json	Enlarged joints|Prominent joints	http://purl.obolibrary.org/obo/HP_0003037							hposlim_core
HP:0003038	biolink:PhenotypicFeature	Fibular hypoplasia	Underdevelopment of the fibula.	UMLS:C1832119	hp.json	Short calf bone|Hypoplastic fibula|Short fibula|Short fibulae	http://purl.obolibrary.org/obo/HP_0003038							hposlim_core
HP:0003040	biolink:PhenotypicFeature	Arthropathy		MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408	hp.json	Disease of the joints	http://purl.obolibrary.org/obo/HP_0003040							
HP:0003041	biolink:PhenotypicFeature	Humeroradial synostosis	An abnormal osseous union (fusion) between the radius and the humerus.	MSH:C535284|SNOMEDCT_US:205329008|UMLS:C1863360|UMLS:C2930865	hp.json	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							
HP:0003042	biolink:PhenotypicFeature	Elbow dislocation	Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.	SNOMEDCT_US:125617002|SNOMEDCT_US:417558002|UMLS:C1403299|UMLS:C1403321|UMLS:C2720437	hp.json	Dislocations of the elbows|Elbow dislocation|Elbow dislocations|Radiocapitellar dislocation|Radiohumeral dislocation|Ulnohumeral dislocation	http://purl.obolibrary.org/obo/HP_0003042							
HP:0003043	biolink:PhenotypicFeature	Abnormal shoulder morphology	An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.	UMLS:C4025659	hp.json	Abnormality of the shoulder	http://purl.obolibrary.org/obo/HP_0003043							hposlim_core
HP:0003044	biolink:PhenotypicFeature	Shoulder flexion contracture	Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	SNOMEDCT_US:202265005|UMLS:C0409336	hp.json		http://purl.obolibrary.org/obo/HP_0003044							
HP:0003045	biolink:PhenotypicFeature	Abnormal patella morphology	Abnormality of the patella (knee cap).	UMLS:C4021743	hp.json	Abnormal kneecap|Abnormality of the patella|Patellar abnormality	http://purl.obolibrary.org/obo/HP_0003045							hposlim_core
HP:0003048	biolink:PhenotypicFeature	Radial head subluxation	Partial dislocation of the head of the radius.	SNOMEDCT_US:417109008|SNOMEDCT_US:95854004|UMLS:C0149977	hp.json	Radial subluxation|Radial-head subluxation	http://purl.obolibrary.org/obo/HP_0003048							
HP:0003049	biolink:PhenotypicFeature	Ulnar deviation of the wrist		SNOMEDCT_US:43689004|UMLS:C0231678	hp.json	Ulnar deviation of wrists	http://purl.obolibrary.org/obo/HP_0003049							
HP:0003051	biolink:PhenotypicFeature	Enlarged metaphyses	Abnormal increase in size of one or more metaphyses.	UMLS:C1855544	hp.json	Enlarged wide portion of a long bone	http://purl.obolibrary.org/obo/HP_0003051							
HP:0003053	biolink:PhenotypicFeature	Epiphyseal deformities of tubular bones		UMLS:C1854786	hp.json		http://purl.obolibrary.org/obo/HP_0003053							
HP:0003057	biolink:PhenotypicFeature	Tetraamelia	Amelia of all four limbs.	MSH:C536498|SNOMEDCT_US:702313004|UMLS:C2931216	hp.json	Tetra-amelia	http://purl.obolibrary.org/obo/HP_0003057							
HP:0003059	biolink:PhenotypicFeature	Abnormality of the radioulnar joints		UMLS:C4025658	hp.json		http://purl.obolibrary.org/obo/HP_0003059							
HP:0003063	biolink:PhenotypicFeature	Abnormality of the humerus	An abnormality of the humerus (i.e., upper arm bone).	UMLS:C4021742	hp.json	Abnormality of the humeri	http://purl.obolibrary.org/obo/HP_0003063							
HP:0003065	biolink:PhenotypicFeature	Patellar hypoplasia	Underdevelopment of the patella.	UMLS:C1840068	hp.json	Small kneecap|Underdeveloped kneecap|Hypoplastic patellae|Small patella|Small patellae	http://purl.obolibrary.org/obo/HP_0003065							
HP:0003066	biolink:PhenotypicFeature	Limited knee extension	Reduced ability to extend (straighten) the knee joint.	UMLS:C1844690	hp.json	Limited knee extension	http://purl.obolibrary.org/obo/HP_0003066							
HP:0003067	biolink:PhenotypicFeature	Madelung deformity	An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.	MSH:C562398|SNOMEDCT_US:4530000|UMLS:C0152441	hp.json	Madelung wrist deformity	http://purl.obolibrary.org/obo/HP_0003067							hposlim_core
HP:0003068	biolink:PhenotypicFeature	Madelung-like forearm deformities		UMLS:C1851419	hp.json		http://purl.obolibrary.org/obo/HP_0003068							
HP:0003070	biolink:PhenotypicFeature	Elbow ankylosis		SNOMEDCT_US:202307002|UMLS:C0409477	hp.json		http://purl.obolibrary.org/obo/HP_0003070							
HP:0003071	biolink:PhenotypicFeature	Flattened epiphysis	Abnormal flatness (decreased height) of epiphyses.	UMLS:C1857527	hp.json	Flat end part of bone|Flat epiphyses	http://purl.obolibrary.org/obo/HP_0003071							
HP:0003072	biolink:PhenotypicFeature	Hypercalcemia	An abnormally increased calcium concentration in the blood.	MSH:D006934|SNOMEDCT_US:166702002|SNOMEDCT_US:66931009|UMLS:C0020437	hp.json	High blood calcium levels|Increased calcium in blood|Hypercalcaemia	http://purl.obolibrary.org/obo/HP_0003072							
HP:0003073	biolink:PhenotypicFeature	Hypoalbuminemia	Reduction in the concentration of albumin in the blood.	MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981	hp.json	Low albumin|Low blood albumin|Hypoalbuminaemia	http://purl.obolibrary.org/obo/HP_0003073							
HP:0003074	biolink:PhenotypicFeature	Hyperglycemia	An increased concentration of glucose in the blood.	MSH:D006943|SNOMEDCT_US:237598005|SNOMEDCT_US:80394007|UMLS:C0020456	hp.json	High blood sugar|High blood glucose	http://purl.obolibrary.org/obo/HP_0003074							
HP:0003075	biolink:PhenotypicFeature	Hypoproteinemia	A decreased concentration of protein in the blood.	MSH:D007019|SNOMEDCT_US:8900005|UMLS:C0020639	hp.json	Decreased protein levels in blood	http://purl.obolibrary.org/obo/HP_0003075							
HP:0003076	biolink:PhenotypicFeature	Glycosuria	An increased concentration of glucose in the urine.	MSH:D006029|SNOMEDCT_US:45154002|UMLS:C0017979	hp.json	Glucose in urine|Glucosuria	http://purl.obolibrary.org/obo/HP_0003076							
HP:0003077	biolink:PhenotypicFeature	Hyperlipidemia	An elevated lipid concentration in the blood.	MSH:D006949|SNOMEDCT_US:55822004|UMLS:C0020473	hp.json	Elevated lipids in blood	http://purl.obolibrary.org/obo/HP_0003077							
HP:0003079	biolink:PhenotypicFeature	Defective DNA repair after ultraviolet radiation damage		UMLS:C1968564	hp.json		http://purl.obolibrary.org/obo/HP_0003079							
HP:0003080	biolink:PhenotypicFeature	Hydroxyprolinuria	An increased concentration of 4-hydroxy-L-proline in the urine.	UMLS:C0948585	hp.json	Elevated urinary hydroxyproline	http://purl.obolibrary.org/obo/HP_0003080							
HP:0003081	biolink:PhenotypicFeature	Increased urinary potassium	An increased concentration of potassium(1+) in the urine.	UMLS:C1846351	hp.json	Increased urinary K|Increased urinary potassium|Hyperkaliuresis	http://purl.obolibrary.org/obo/HP_0003081							
HP:0003083	biolink:PhenotypicFeature	Dislocated radial head	A dislocation of the head of the radius from its socket in the elbow joint.	SNOMEDCT_US:9634000|UMLS:C0265563	hp.json	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							
HP:0003084	biolink:PhenotypicFeature	Fractures of the long bones	An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).	UMLS:C0240231	hp.json	Increased long bone fracture rate	http://purl.obolibrary.org/obo/HP_0003084							
HP:0003085	biolink:PhenotypicFeature	Long fibula	Disproportionately long fibulae.	UMLS:C1848109	hp.json	Long calf bone|Long fibula|Disproportionately long fibula	http://purl.obolibrary.org/obo/HP_0003085							hposlim_core
HP:0003086	biolink:PhenotypicFeature	Acromesomelia	Small hands and feet.	UMLS:C1864365	hp.json		http://purl.obolibrary.org/obo/HP_0003086							
HP:0003088	biolink:PhenotypicFeature	Premature osteoarthritis		UMLS:C1835121	hp.json	Premature arthritis|Premature osteoarthritis	http://purl.obolibrary.org/obo/HP_0003088							
HP:0003089	biolink:PhenotypicFeature	Hamstring contractures		SNOMEDCT_US:203074005|UMLS:C0410266	hp.json	Hamstring contractures	http://purl.obolibrary.org/obo/HP_0003089							
HP:0003090	biolink:PhenotypicFeature	Hypoplasia of the capital femoral epiphysis	Underdevelopment of the proximal epiphysis of the femur.	UMLS:C1839254	hp.json	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							
HP:0003091	biolink:PhenotypicFeature	Trophic limb changes	Trophic changes occurring in a limb.	UMLS:C4025657	hp.json		http://purl.obolibrary.org/obo/HP_0003091							
HP:0003093	biolink:PhenotypicFeature	Limited hip extension	Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.	UMLS:C3553368	hp.json	Limited hip extension|Restricted hip extension	http://purl.obolibrary.org/obo/HP_0003093							
HP:0003095	biolink:PhenotypicFeature	Septic arthritis		MSH:D001170|SNOMEDCT_US:372939007|SNOMEDCT_US:396234004|UMLS:C0003869|UMLS:C4280547	hp.json	Infected joint	http://purl.obolibrary.org/obo/HP_0003095							
HP:0003097	biolink:PhenotypicFeature	Short femur	An abnormal shortening of the femur.	SNOMEDCT_US:93255008|UMLS:C0345375	hp.json	Short thighbone|Femoral hypoplasia|Hypoplasia of the femora|Short femurs	http://purl.obolibrary.org/obo/HP_0003097							hposlim_core
HP:0003099	biolink:PhenotypicFeature	Fibular overgrowth	Relatively increased growth of the fibula compared to that of the tibia.	UMLS:C1864298	hp.json	Overgrowth of calf bone	http://purl.obolibrary.org/obo/HP_0003099							
HP:0003100	biolink:PhenotypicFeature	Slender long bone	Reduced diameter of a long bone.	UMLS:C1833144	hp.json	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							
HP:0003102	biolink:PhenotypicFeature	Increased carrying angle	An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.	UMLS:C1855478	hp.json		http://purl.obolibrary.org/obo/HP_0003102							
HP:0003103	biolink:PhenotypicFeature	Abnormal cortical bone morphology	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.	UMLS:C4021741	hp.json	Abnormal compact bone morphology|Abnormality of cortical bone	http://purl.obolibrary.org/obo/HP_0003103							
HP:0003105	biolink:PhenotypicFeature	Protuberances at ends of long bones	The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.	UMLS:C1851418	hp.json	Protuberances at ends of long bones	http://purl.obolibrary.org/obo/HP_0003105							
HP:0003106	biolink:PhenotypicFeature	Subperiosteal bone resorption	Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.	UMLS:C1848541	hp.json	Subperiosteal erosions	http://purl.obolibrary.org/obo/HP_0003106							
HP:0003107	biolink:PhenotypicFeature	Abnormal circulating cholesterol concentration	Any deviation from the normal concentration of cholesterol in the blood circulation.	UMLS:C4025656	hp.json	Abnormality of cholesterol metabolism|Abnormal cholesterol homeostasis	http://purl.obolibrary.org/obo/HP_0003107							
HP:0003108	biolink:PhenotypicFeature	Hyperglycinuria	An increased concentration of glycine in the urine.	MSH:C563009|SNOMEDCT_US:236477004|UMLS:C0341706|UMLS:C0543541	hp.json	High urine glycine levels|Glycinuria	http://purl.obolibrary.org/obo/HP_0003108							
HP:0003109	biolink:PhenotypicFeature	Hyperphosphaturia	An increased excretion of phosphates in the urine.	SNOMEDCT_US:22450000|UMLS:C0268079|UMLS:C0948023	hp.json	High urine phosphate levels|Phosphaturia	http://purl.obolibrary.org/obo/HP_0003109							
HP:0003110	biolink:PhenotypicFeature	Abnormality of urine homeostasis	An abnormality of the composition of urine or the levels of its components.	UMLS:C4025655	hp.json	Pee issues|Urine issues	http://purl.obolibrary.org/obo/HP_0003110							
HP:0003111	biolink:PhenotypicFeature	Abnormal blood ion concentration	Abnormality of the homeostasis (concentration) of a monoatomic ion.	SNOMEDCT_US:237840007|UMLS:C1704431|UMLS:C4025654	hp.json	Electrolyte disorders|Abnormality of ion homeostasis	http://purl.obolibrary.org/obo/HP_0003111							
HP:0003112	biolink:PhenotypicFeature	Abnormal circulating amino acid concentration	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.	UMLS:C4025653	hp.json	Abnormality of serum amino acid levels|Abnormality of serum amino acid level	http://purl.obolibrary.org/obo/HP_0003112							
HP:0003113	biolink:PhenotypicFeature	Hypochloremia	An abnormally decreased chloride concentration in the blood.	SNOMEDCT_US:10399008|UMLS:C0085680|UMLS:C0595901	hp.json	Low blood chloride levels	http://purl.obolibrary.org/obo/HP_0003113							
HP:0003114	biolink:PhenotypicFeature	obsolete Abnormal cardiological findings			hp.json		http://purl.obolibrary.org/obo/HP_0003114							
HP:0003115	biolink:PhenotypicFeature	Abnormal EKG	Abnormal rhythm of the heart.	SNOMEDCT_US:102594003|UMLS:C0522055	hp.json	EKG abnormality|Abnormal ECG|Abnormal EKG|Abnormal electrocardiogram	http://purl.obolibrary.org/obo/HP_0003115							
HP:0003116	biolink:PhenotypicFeature	Abnormal echocardiogram	An abnormality detectable by sonography of the heart (echocardiography).	SNOMEDCT_US:169241000|UMLS:C0476369	hp.json	Abnormal echocardiogram|Abnormal echocardiography	http://purl.obolibrary.org/obo/HP_0003116							
HP:0003117	biolink:PhenotypicFeature	Abnormal circulating hormone concentration	An abnormal concentration of a hormone in the blood.	UMLS:C4025652	hp.json	Abnormality of circulating hormone level|Abnormal circulating hormone level	http://purl.obolibrary.org/obo/HP_0003117							
HP:0003118	biolink:PhenotypicFeature	Increased circulating cortisol level	Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.	MSH:D000308|SNOMEDCT_US:237735008|SNOMEDCT_US:275437005|SNOMEDCT_US:47270006|UMLS:C0001622|UMLS:C0342443|UMLS:C4025651	hp.json	Increased circulating cortisol level|Cushing syndrome|Hypercortisolism|Increased cortisol production	http://purl.obolibrary.org/obo/HP_0003118							
HP:0003119	biolink:PhenotypicFeature	Abnormal circulating lipid concentration	Any deviation from the normal concentration of a lipid in the blood circulation.	MSH:D050171|SNOMEDCT_US:370992007|UMLS:C0242339|UMLS:C4025650	hp.json	Dyslipidaemia|Dyslipidemia	http://purl.obolibrary.org/obo/HP_0003119							
HP:0003121	biolink:PhenotypicFeature	Limb joint contracture	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.	UMLS:C1969879	hp.json	Limb contractures	http://purl.obolibrary.org/obo/HP_0003121							
HP:0003124	biolink:PhenotypicFeature	Hypercholesterolemia	An increased concentration of cholesterol in the blood.	MSH:D006937|SNOMEDCT_US:13644009|SNOMEDCT_US:166830008|UMLS:C0020443|UMLS:C0595929	hp.json	High cholesterol|Elevated serum cholesterol|Elevated total cholesterol|Increased total cholesterol	http://purl.obolibrary.org/obo/HP_0003124							
HP:0003125	biolink:PhenotypicFeature	Reduced factor VIII activity	Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.	MSH:D006467|SNOMEDCT_US:234440005|UMLS:C3494187|UMLS:C4025649	hp.json	Factor VIII deficiency	http://purl.obolibrary.org/obo/HP_0003125							
HP:0003126	biolink:PhenotypicFeature	Low-molecular-weight proteinuria	Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).	UMLS:C1839606	hp.json	Tubular proteinuria	http://purl.obolibrary.org/obo/HP_0003126							
HP:0003127	biolink:PhenotypicFeature	Hypocalciuria	An abnormally decreased calcium concentration in the urine.	SNOMEDCT_US:86353007|UMLS:C0020599	hp.json	Low urine calcium levels	http://purl.obolibrary.org/obo/HP_0003127							
HP:0003128	biolink:PhenotypicFeature	Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.	MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001|UMLS:C0001125|UMLS:C0347959	hp.json	Increased lactate in body|Hyperlacticacidemia|Lactic acidemia|Lacticacidemia|Lacticacidosis	http://purl.obolibrary.org/obo/HP_0003128							
HP:0003130	biolink:PhenotypicFeature	Abnormal peripheral myelination	An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.	UMLS:C4025648	hp.json		http://purl.obolibrary.org/obo/HP_0003130							
HP:0003131	biolink:PhenotypicFeature	Cystinuria	An increased concentration of cystine in the urine.	MSH:D003555|SNOMEDCT_US:85020001|UMLS:C0010691	hp.json	High urine cystine levels	http://purl.obolibrary.org/obo/HP_0003131							
HP:0003133	biolink:PhenotypicFeature	Abnormality of the spinocerebellar tracts	An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.	UMLS:C4025647	hp.json		http://purl.obolibrary.org/obo/HP_0003133							
HP:0003134	biolink:PhenotypicFeature	Abnormality of peripheral nerve conduction	An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).	UMLS:C4020690	hp.json	Sensory and motor nerve conduction abnormalities|Abnormal peripheral nerve transmission	http://purl.obolibrary.org/obo/HP_0003134							
HP:0003137	biolink:PhenotypicFeature	Prolinuria	An increased concentration of proline in the urine.	SNOMEDCT_US:53124003|UMLS:C0268534	hp.json		http://purl.obolibrary.org/obo/HP_0003137							
HP:0003138	biolink:PhenotypicFeature	Increased blood urea nitrogen	An increased amount of nitrogen in the form of urea in the blood.	UMLS:C0151539	hp.json	Increased BUN|Increased blood urea nitrogen	http://purl.obolibrary.org/obo/HP_0003138							
HP:0003139	biolink:PhenotypicFeature	Panhypogammaglobulinemia	A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.	UMLS:C1328587	hp.json	Panypogammaglobulinemia	http://purl.obolibrary.org/obo/HP_0003139							
HP:0003140	biolink:PhenotypicFeature	T-wave inversion in the right precordial leads		UMLS:C4025646	hp.json		http://purl.obolibrary.org/obo/HP_0003140							
HP:0003141	biolink:PhenotypicFeature	Increased LDL cholesterol concentration	An elevated concentration of low-density lipoprotein cholesterol in the blood.	MSH:D006938|SNOMEDCT_US:190773008|SNOMEDCT_US:398036000|UMLS:C0020445|UMLS:C0549399	hp.json	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							
HP:0003142	biolink:PhenotypicFeature	Excessive purine production		UMLS:C4025645	hp.json		http://purl.obolibrary.org/obo/HP_0003142							
HP:0003144	biolink:PhenotypicFeature	Increased serum serotonin	A increased concentration of serotonin in the blood.	UMLS:C0877243	hp.json	Increased serum serotonin	http://purl.obolibrary.org/obo/HP_0003144							
HP:0003145	biolink:PhenotypicFeature	Decreased adenosylcobalamin	Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.	UMLS:C1848556	hp.json	Decreased ADOCBL	http://purl.obolibrary.org/obo/HP_0003145							
HP:0003146	biolink:PhenotypicFeature	Hypocholesterolemia	An decreased concentration of cholesterol in the blood.	SNOMEDCT_US:61336008|UMLS:C0151718	hp.json	Decreased circulating cholesterol level	http://purl.obolibrary.org/obo/HP_0003146							
HP:0003148	biolink:PhenotypicFeature	Elevated serum acid phosphatase		UMLS:C1839866	hp.json	Acid phosphatase elevated|Elevated serum acid phosphatase	http://purl.obolibrary.org/obo/HP_0003148							
HP:0003149	biolink:PhenotypicFeature	Hyperuricosuria	An abnormally high level of uric acid in the urine.	UMLS:C0948643	hp.json	High urine uric acid level	http://purl.obolibrary.org/obo/HP_0003149							
HP:0003150	biolink:PhenotypicFeature	Glutaric aciduria	An increased concentration of glutaric acid in the urine.	SNOMEDCT_US:28987007|UMLS:C0268594	hp.json	Glutarate aciduria|Glutaricaciduria|Increased glutarate level in urine	http://purl.obolibrary.org/obo/HP_0003150							
HP:0003152	biolink:PhenotypicFeature	obsolete Increased serum 1,25-dihydroxyvitamin D3			hp.json		http://purl.obolibrary.org/obo/HP_0003152							
HP:0003153	biolink:PhenotypicFeature	Cystathioninuria	An elevated urinary concentration of cystathionine.	SNOMEDCT_US:13003007|UMLS:C0220993	hp.json	High urine cystathionine levels	http://purl.obolibrary.org/obo/HP_0003153							
HP:0003154	biolink:PhenotypicFeature	Increased circulating ACTH level	An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.	UMLS:C4021740	hp.json	High blood corticotropin levels|Increased circulating ACTH level|Increased plasma ACTH	http://purl.obolibrary.org/obo/HP_0003154							
HP:0003155	biolink:PhenotypicFeature	Elevated circulating alkaline phosphatase concentration	Abnormally increased serum levels of alkaline phosphatase activity.	UMLS:C0750857	hp.json	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							
HP:0003158	biolink:PhenotypicFeature	Hyposthenuria	An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.	SNOMEDCT_US:76023003|UMLS:C0232831	hp.json	Reduced urinary osmolality	http://purl.obolibrary.org/obo/HP_0003158							
HP:0003159	biolink:PhenotypicFeature	Hyperoxaluria	Increased excretion of oxalates in the urine.	MSH:D006959|SNOMEDCT_US:367621000119107|UMLS:C0020500	hp.json	High urine oxalate levels|Increased level of oxalate in urine	http://purl.obolibrary.org/obo/HP_0003159							
HP:0003160	biolink:PhenotypicFeature	Abnormal isoelectric focusing of serum transferrin	Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.	UMLS:C2749688	hp.json	Abnormal isoelectric focusing of serum transferrin|Abnormal transferrin isoelectric focusing	http://purl.obolibrary.org/obo/HP_0003160							
HP:0003161	biolink:PhenotypicFeature	4-Hydroxyphenylpyruvic aciduria	Increased concentration of pyruvic acid in the urine.	UMLS:C1848678	hp.json	Hydroxyphenylpyruvic aciduria	http://purl.obolibrary.org/obo/HP_0003161							
HP:0003162	biolink:PhenotypicFeature	Fasting hypoglycemia		MSH:D007003|SNOMEDCT_US:6974005|UMLS:C0271708	hp.json	Low blood sugar when fasting	http://purl.obolibrary.org/obo/HP_0003162							
HP:0003163	biolink:PhenotypicFeature	Elevated urinary delta-aminolevulinic acid	An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.	UMLS:C1848702	hp.json	Elevated urinary delta-aminolevulinic acid	http://purl.obolibrary.org/obo/HP_0003163							
HP:0003164	biolink:PhenotypicFeature	Hypothalamic gonadotropin-releasing hormone deficiency		UMLS:C4025644	hp.json	Hypothalamic GNRH deficiency	http://purl.obolibrary.org/obo/HP_0003164							
HP:0003165	biolink:PhenotypicFeature	Elevated circulating parathyroid hormone level	An abnormal increased concentration of parathyroid hormone.	UMLS:C0857973	hp.json	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							
HP:0003166	biolink:PhenotypicFeature	Increased urinary taurine	Increased concentration of taurine in the urine.	UMLS:C3806447	hp.json	Increased urinary taurine	http://purl.obolibrary.org/obo/HP_0003166							
HP:0003167	biolink:PhenotypicFeature	Carnosinuria	An increased concentration of carnosine in the urine.	SNOMEDCT_US:410051001|UMLS:C3495558	hp.json	High urine carnosine levels	http://purl.obolibrary.org/obo/HP_0003167							
HP:0003168	biolink:PhenotypicFeature	Dibasicaminoaciduria	An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).	UMLS:C4025643	hp.json		http://purl.obolibrary.org/obo/HP_0003168							
HP:0003170	biolink:PhenotypicFeature	Abnormal acetabulum morphology	An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.	UMLS:C4021739	hp.json	Abnormality of the hipbone socket|Abnormality of the acetabulum|Acetabular abnormality	http://purl.obolibrary.org/obo/HP_0003170							hposlim_core
HP:0003172	biolink:PhenotypicFeature	Abnormality of the pubic bone	An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.	UMLS:C4021738	hp.json	Abnormality of the pubic bone|Abnormality of the pubic bones|Abnormality of the pubis	http://purl.obolibrary.org/obo/HP_0003172							hposlim_core
HP:0003173	biolink:PhenotypicFeature	Hypoplastic pubic bone	Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.	UMLS:C1865030	hp.json	Hypoplastic pubic bones|Hypoplastic pubis	http://purl.obolibrary.org/obo/HP_0003173							
HP:0003174	biolink:PhenotypicFeature	Abnormality of the ischium	An anomaly of the ischium, which forms the lower and back part of the hip bone.	SNOMEDCT_US:93008005|UMLS:C0685661	hp.json	Abnormality of the ischial bones|Anomaly of the ischium	http://purl.obolibrary.org/obo/HP_0003174							
HP:0003175	biolink:PhenotypicFeature	Hypoplastic ischia	Underdevelopment of the ischium, which forms the lower and back part of the hip bone.	UMLS:C1859447	hp.json	Hypoplastic ischial bones|Hypoplastic ischii|Hypoplastic ischium	http://purl.obolibrary.org/obo/HP_0003175							hposlim_core
HP:0003177	biolink:PhenotypicFeature	Squared iliac bones	A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.	UMLS:C1838186	hp.json	Square iliac bones|Squaring of iliac bones	http://purl.obolibrary.org/obo/HP_0003177							
HP:0003179	biolink:PhenotypicFeature	Protrusio acetabuli	Intrapelvic bulging of the medial acetabular wall.	SNOMEDCT_US:59606006|UMLS:C0409495	hp.json	Abnormally indented hip sockets|Protrusio acetabulae	http://purl.obolibrary.org/obo/HP_0003179							hposlim_core
HP:0003180	biolink:PhenotypicFeature	Flat acetabular roof	Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.	UMLS:C1837485	hp.json	Flat acetabular roofs|Flattened acetabular roof|Horizontal acetabulae|Horizontal acetabular roof|Horizontal acetabular roofs	http://purl.obolibrary.org/obo/HP_0003180							hposlim_core
HP:0003182	biolink:PhenotypicFeature	Shallow acetabular fossae		UMLS:C1854910|UMLS:C1860796	hp.json	Shallow acetabula|Shallow acetabulae|Shallow acetabular fossa|Shallow acetabulum	http://purl.obolibrary.org/obo/HP_0003182							
HP:0003183	biolink:PhenotypicFeature	Wide pubic symphysis	Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.	UMLS:C1857190	hp.json	Wide symphysis of pubis	http://purl.obolibrary.org/obo/HP_0003183							hposlim_core
HP:0003184	biolink:PhenotypicFeature	Decreased hip abduction	Reduced ability to move the femur outward to the side.	UMLS:C1836589	hp.json	Limited hip abduction	http://purl.obolibrary.org/obo/HP_0003184							
HP:0003185	biolink:PhenotypicFeature	Short greater sciatic notch	The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.	UMLS:C1866689	hp.json	Short sacroiliac notch|Shortened sacroiliac notches|Small sacroiliac notch	http://purl.obolibrary.org/obo/HP_0003185							
HP:0003186	biolink:PhenotypicFeature	Inverted nipples	The presence of nipples that instead of pointing outward are retracted inwards.	SNOMEDCT_US:82231009|UMLS:C0269269	hp.json	Inverted nipples|Invaginated nipples	http://purl.obolibrary.org/obo/HP_0003186							
HP:0003187	biolink:PhenotypicFeature	Breast hypoplasia	Underdevelopment of the breast.	SNOMEDCT_US:8915006|UMLS:C0266013	hp.json	Underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0003187							
HP:0003189	biolink:PhenotypicFeature	Long nose	Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.	UMLS:C1839798	hp.json	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							
HP:0003191	biolink:PhenotypicFeature	Cleft ala nasi	The presence of a notch in the margin of the ala nasi.	UMLS:C1844537	hp.json	Cleft nostril|Ala nasi, cleft|Alar clefts|Cleft nasal alae|Notched nasal alae|Nostril coloboma	http://purl.obolibrary.org/obo/HP_0003191							
HP:0003193	biolink:PhenotypicFeature	Allergic rhinitis	It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.	MSH:D065631|SNOMEDCT_US:61582004|UMLS:C0847614|UMLS:C2607914	hp.json	Hay fever|Hayfever|Nasal allergies	http://purl.obolibrary.org/obo/HP_0003193							
HP:0003194	biolink:PhenotypicFeature	Short nasal bridge	Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.	UMLS:C1854689	hp.json	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							
HP:0003196	biolink:PhenotypicFeature	Short nose	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.	SNOMEDCT_US:249310005|UMLS:C0426414|UMLS:C1854114	hp.json	Decreased length of nose|Short nose|Shortened nose|Small nose|Hypoplastic nose|Nasal hypoplasia	http://purl.obolibrary.org/obo/HP_0003196							hposlim_core
HP:0003198	biolink:PhenotypicFeature	Myopathy	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.	MSH:D009135|SNOMEDCT_US:129565002|UMLS:C0026848	hp.json	Muscle tissue disease|Myopathic changes	http://purl.obolibrary.org/obo/HP_0003198							
HP:0003199	biolink:PhenotypicFeature	Decreased muscle mass		UMLS:C1837108	hp.json	Decreased muscle mass	http://purl.obolibrary.org/obo/HP_0003199							
HP:0003200	biolink:PhenotypicFeature	Ragged-red muscle fibers	An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.	UMLS:C3275417	hp.json	Ragged red muscle fibres|Ragged-red fibres|Ragged-red muscle fibres|Mitochondrial proliferation in muscle tissue|Ragged red muscle fibers|Ragged-red fibers	http://purl.obolibrary.org/obo/HP_0003200							
HP:0003201	biolink:PhenotypicFeature	Rhabdomyolysis	Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.	MSH:D012206|SNOMEDCT_US:240131006|SNOMEDCT_US:89010004|UMLS:C0035410	hp.json	Breakdown of skeletal muscle	http://purl.obolibrary.org/obo/HP_0003201							
HP:0003202	biolink:PhenotypicFeature	Skeletal muscle atrophy	The presence of skeletal muscular atrophy (which is also known as amyotrophy).	MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C0541794|UMLS:C1843479	hp.json	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							
HP:0003203	biolink:PhenotypicFeature	Impaired oxidative burst	In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.	UMLS:C4280805	hp.json	Negative NBT reduction test|Negative nitroblue tetrazolium reduction test	http://purl.obolibrary.org/obo/HP_0003203							
HP:0003204	biolink:PhenotypicFeature	Intracellular accumulation of autofluorescent lipopigment storage material	The intracellular accumulation of autofluorescent storage material.	UMLS:C4025642	hp.json		http://purl.obolibrary.org/obo/HP_0003204							
HP:0003205	biolink:PhenotypicFeature	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.	UMLS:C1836852	hp.json	'Curvilinear profiles' ultrastructurally in cells|'curvilinear profiles' ultrastructurally|Curvilinear profiles ultrastructurally|Intracellular curvilinear profiles on ultrastructural analysis	http://purl.obolibrary.org/obo/HP_0003205							
HP:0003206	biolink:PhenotypicFeature	Decreased activity of NADPH oxidase		UMLS:C1844394	hp.json		http://purl.obolibrary.org/obo/HP_0003206							
HP:0003207	biolink:PhenotypicFeature	Arterial calcification	Pathological deposition of calcium salts in one or more arteries.	UMLS:C1168153	hp.json		http://purl.obolibrary.org/obo/HP_0003207							
HP:0003208	biolink:PhenotypicFeature	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.	UMLS:C1836851	hp.json	'Fingerprint profiles' ultrastructurally in cells|Fingerprint profiles ultrastructurally	http://purl.obolibrary.org/obo/HP_0003208							
HP:0003209	biolink:PhenotypicFeature	Decreased pyruvate carboxylase activity	A decreased rate of pyruvate carboxylase activity.	UMLS:C4025641	hp.json		http://purl.obolibrary.org/obo/HP_0003209							
HP:0003210	biolink:PhenotypicFeature	Decreased methylmalonyl-CoA mutase activity	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.	UMLS:C1848579	hp.json	Decreased methylmalonyl CoA mutase activity	http://purl.obolibrary.org/obo/HP_0003210							
HP:0003212	biolink:PhenotypicFeature	Increased circulating IgE level	An abnormally increased overall level of immunoglobulin E in blood.	UMLS:C0236175	hp.json	Elevated immunoglobulin E|Elevated serum IgE|High immunoglobulin E	http://purl.obolibrary.org/obo/HP_0003212							
HP:0003213	biolink:PhenotypicFeature	Deficient excision of UV-induced pyrimidine dimers in DNA		UMLS:C4025640	hp.json		http://purl.obolibrary.org/obo/HP_0003213							
HP:0003214	biolink:PhenotypicFeature	Prolonged G2 phase of cell cycle		UMLS:C4025639	hp.json		http://purl.obolibrary.org/obo/HP_0003214							
HP:0003215	biolink:PhenotypicFeature	Dicarboxylic aciduria	An increased concentration of dicarboxylic acid in the urine.	UMLS:C1856432	hp.json		http://purl.obolibrary.org/obo/HP_0003215							
HP:0003216	biolink:PhenotypicFeature	Generalized amyloid deposition	A diffuse form of amyloidosis.	UMLS:C1862968	hp.json	Generalised amyloid deposition	http://purl.obolibrary.org/obo/HP_0003216							
HP:0003217	biolink:PhenotypicFeature	Hyperglutaminemia	An increased concentration of glutamine in the blood.	UMLS:C1839533	hp.json	High plasma glutamine	http://purl.obolibrary.org/obo/HP_0003217							
HP:0003218	biolink:PhenotypicFeature	Oroticaciduria	An increased concentration of orotic acid in the urine.	SNOMEDCT_US:124277009|SNOMEDCT_US:47641009|UMLS:C0268128	hp.json	High urine orotic acid levels|Increased urinary orotic acid concentration|Orotic aciduria	http://purl.obolibrary.org/obo/HP_0003218							
HP:0003219	biolink:PhenotypicFeature	Ethylmalonic aciduria	An increased concentration of ethylmalonic acid in the urine.	UMLS:C1865353	hp.json		http://purl.obolibrary.org/obo/HP_0003219							
HP:0003220	biolink:PhenotypicFeature	Abnormality of chromosome stability	A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.	MSH:D019457|UMLS:C0376628|UMLS:C1859424	hp.json		http://purl.obolibrary.org/obo/HP_0003220							
HP:0003221	biolink:PhenotypicFeature	Chromosomal breakage induced by crosslinking agents	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.	UMLS:C4021737	hp.json	Chromosomal breakage induced by diepoxybutane|Chromosomal breakage induced by mitomycin C	http://purl.obolibrary.org/obo/HP_0003221							
HP:0003223	biolink:PhenotypicFeature	Decreased methylcobalamin	Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.	UMLS:C4021736	hp.json	Methylcobalamin deficiency	http://purl.obolibrary.org/obo/HP_0003223							
HP:0003224	biolink:PhenotypicFeature	Increased cellular sensitivity to UV light		UMLS:C1857707	hp.json		http://purl.obolibrary.org/obo/HP_0003224							
HP:0003225	biolink:PhenotypicFeature	Reduced coagulation factor V activity	Decreased activity of coagulation factor V.	MSH:D005166|SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|UMLS:C0015499	hp.json	Reduced factor V activity|Factor V deficiency	http://purl.obolibrary.org/obo/HP_0003225							
HP:0003226	biolink:PhenotypicFeature	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.	UMLS:C1850447	hp.json	Rectilinear profiles ultrastructurally	http://purl.obolibrary.org/obo/HP_0003226							
HP:0003228	biolink:PhenotypicFeature	Hypernatremia	An abnormally increased sodium concentration in the blood.	MSH:D006955|SNOMEDCT_US:286926003|SNOMEDCT_US:39355002|UMLS:C0020488	hp.json	High blood sodium levels	http://purl.obolibrary.org/obo/HP_0003228							
HP:0003231	biolink:PhenotypicFeature	Hypertyrosinemia	An increased concentration of tyrosine in the blood.	SNOMEDCT_US:56595005|UMLS:C1879362	hp.json	Increased tyrosine in blood|Tyrosinemia	http://purl.obolibrary.org/obo/HP_0003231							
HP:0003232	biolink:PhenotypicFeature	Mitochondrial malic enzyme reduced		UMLS:C1856697	hp.json	Decreased mitochondrial malic enzyme	http://purl.obolibrary.org/obo/HP_0003232							
HP:0003233	biolink:PhenotypicFeature	Decreased HDL cholesterol concentration	An decreased concentration of high-density lipoprotein cholesterol in the blood.	MSH:D052456|SNOMEDCT_US:190785000|UMLS:C0151691|UMLS:C0473527	hp.json	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							
HP:0003234	biolink:PhenotypicFeature	Decreased plasma carnitine	A decreased concentration of carnitine in the blood.	SNOMEDCT_US:421784001|UMLS:C1142132	hp.json	Decreased plasma carnitine|Carnitine deficiency	http://purl.obolibrary.org/obo/HP_0003234							
HP:0003235	biolink:PhenotypicFeature	Hypermethioninemia	An increased concentration of methionine in the blood.	MSH:C564683|SNOMEDCT_US:124283007|SNOMEDCT_US:43123004|SNOMEDCT_US:57835009|UMLS:C0268621	hp.json	Increased methionine in blood|Methioninemia	http://purl.obolibrary.org/obo/HP_0003235							
HP:0003236	biolink:PhenotypicFeature	Elevated circulating creatine kinase concentration	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.	UMLS:C0151576|UMLS:C0241005	hp.json	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							
HP:0003237	biolink:PhenotypicFeature	Increased circulating IgG level	An abnormally increased level of immunoglobulin G in blood.	UMLS:C1858977	hp.json	Increased IgG level|Increased levels of IgG|Increased total IgG in blood	http://purl.obolibrary.org/obo/HP_0003237							
HP:0003238	biolink:PhenotypicFeature	Hyperpepsinogenemia I		UMLS:C4025638	hp.json		http://purl.obolibrary.org/obo/HP_0003238							
HP:0003239	biolink:PhenotypicFeature	Phosphoethanolaminuria	An increased concentration of phosphoethanolamine in the urine.	MSH:C562646|SNOMEDCT_US:55236002|UMLS:C0268412	hp.json	High urine phosphoethanolamine levels	http://purl.obolibrary.org/obo/HP_0003239							
HP:0003240	biolink:PhenotypicFeature	Increased phosphoribosylpyrophosphate synthetase level	Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.	UMLS:C4025637	hp.json	Increased PRPS1 activity|Increased phosphoribosyl pyrophosphate synthetase activity	http://purl.obolibrary.org/obo/HP_0003240							
HP:0003241	biolink:PhenotypicFeature	External genital hypoplasia	Underdevelopment of part or all of the external reproductive organs.	UMLS:C1855333	hp.json	Underdevelopment of external reproductive organs|Hypogenitalism|Small genitalia	http://purl.obolibrary.org/obo/HP_0003241							
HP:0003244	biolink:PhenotypicFeature	Penile hypospadias	Location of the urethral opening on the inferior aspect of the penis.	SNOMEDCT_US:204888000|UMLS:C1691215	hp.json		http://purl.obolibrary.org/obo/HP_0003244							
HP:0003246	biolink:PhenotypicFeature	Prominent scrotal raphe	Increased size of the ridge of tissue that extends along the midline of the scrotum.	UMLS:C1852407	hp.json	Prominent perineal raphe	http://purl.obolibrary.org/obo/HP_0003246							
HP:0003247	biolink:PhenotypicFeature	Overgrowth of external genitalia		UMLS:C1851722	hp.json	Overgrowth of external genitalia	http://purl.obolibrary.org/obo/HP_0003247							
HP:0003248	biolink:PhenotypicFeature	Gonadal tissue inappropriate for external genitalia or chromosomal sex		UMLS:C1860268	hp.json		http://purl.obolibrary.org/obo/HP_0003248							
HP:0003249	biolink:PhenotypicFeature	Genital ulcers		UMLS:C0151281	hp.json	Genital ulcers	http://purl.obolibrary.org/obo/HP_0003249							
HP:0003250	biolink:PhenotypicFeature	Aplasia of the vagina	Aplasia of the vagina.	MSH:C536523|SNOMEDCT_US:248871003|SNOMEDCT_US:87380008|UMLS:C0220763|UMLS:C1321884|UMLS:C1841990	hp.json	Absent vagina|Congenital absence of the vagina	http://purl.obolibrary.org/obo/HP_0003250							
HP:0003251	biolink:PhenotypicFeature	Male infertility		MSH:D007248|SNOMEDCT_US:2904007|UMLS:C0021364	hp.json	Male infertility	http://purl.obolibrary.org/obo/HP_0003251							
HP:0003252	biolink:PhenotypicFeature	Anteriorly displaced genitalia		UMLS:C1848653	hp.json		http://purl.obolibrary.org/obo/HP_0003252							
HP:0003254	biolink:PhenotypicFeature	Abnormality of DNA repair	An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.	UMLS:C4021848	hp.json		http://purl.obolibrary.org/obo/HP_0003254							
HP:0003256	biolink:PhenotypicFeature	Abnormality of the coagulation cascade	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.	MSH:D001778|SNOMEDCT_US:362970003|SNOMEDCT_US:64779008|UMLS:C0005779	hp.json	Coagulopathy	http://purl.obolibrary.org/obo/HP_0003256							
HP:0003258	biolink:PhenotypicFeature	Glyoxalase deficiency		UMLS:C3279658	hp.json		http://purl.obolibrary.org/obo/HP_0003258							
HP:0003259	biolink:PhenotypicFeature	Elevated circulating creatinine concentration	An increased amount of creatinine in the blood.	SNOMEDCT_US:166717003|UMLS:C0700225	hp.json	Elevated creatinine|High blood creatinine level|Increased creatinine|Increased serum creatinine|Elevated serum creatinine	http://purl.obolibrary.org/obo/HP_0003259							
HP:0003260	biolink:PhenotypicFeature	Hydroxyprolinemia	An increased concentration of hydroxyproline in the blood.	MSH:C562669|SNOMEDCT_US:25739007|UMLS:C0268531	hp.json	High blood hydroxyproline levels	http://purl.obolibrary.org/obo/HP_0003260							
HP:0003261	biolink:PhenotypicFeature	Increased circulating IgA level	An abnormally increased level of immunoglobulin A in blood.	UMLS:C0239984	hp.json	Elevated IgA|Elevated serum IgA|IgA hypergammaglobulinemia|Increased levels of IgA|Increased serum IgA	http://purl.obolibrary.org/obo/HP_0003261							
HP:0003262	biolink:PhenotypicFeature	Smooth muscle antibody positivity	The presence in serum of antibodies against smooth muscle.	SNOMEDCT_US:310290006|UMLS:C0241185	hp.json	Anti-smooth muscle antibody positivity|Smooth muscle antibody positive	http://purl.obolibrary.org/obo/HP_0003262							
HP:0003264	biolink:PhenotypicFeature	Deficiency of N-acetylglucosamine-1-phosphotransferase		MSH:D009081|SNOMEDCT_US:70199000|UMLS:C0020725	hp.json		http://purl.obolibrary.org/obo/HP_0003264							
HP:0003265	biolink:PhenotypicFeature	Neonatal hyperbilirubinemia	A type of hyperbilirubinemia with neonatal onset.	MSH:D051556|SNOMEDCT_US:281610001|UMLS:C0857007	hp.json	High blood bilirubin levels in neonate|Hyperbilirubinemia, neonatal	http://purl.obolibrary.org/obo/HP_0003265							
HP:0003267	biolink:PhenotypicFeature	Reduced orotidine 5-prime phosphate decarboxylase level	An abnormal decrease in orotidine 5'-phosphate decarboxylase level.	UMLS:C4020845|UMLS:C4025636	hp.json	Orotidine-5-prime-phosphate decarboxylase defect	http://purl.obolibrary.org/obo/HP_0003267							
HP:0003268	biolink:PhenotypicFeature	Argininuria	A increased concentration of arginine in the urine.	UMLS:C4025635	hp.json	High urine arginine levels	http://purl.obolibrary.org/obo/HP_0003268							
HP:0003269	biolink:PhenotypicFeature	Sudanophilic leukodystrophy		MSH:D020371|SNOMEDCT_US:64855000|UMLS:C0205711	hp.json		http://purl.obolibrary.org/obo/HP_0003269							
HP:0003270	biolink:PhenotypicFeature	Abdominal distention	Distention of the abdomen.	SNOMEDCT_US:41931001|SNOMEDCT_US:60728008|UMLS:C0000731	hp.json	Abdominal bloating|Abdominal swelling|Belly bloating|Bloating|Abdominal distension|Distended abdomen	http://purl.obolibrary.org/obo/HP_0003270							hposlim_core
HP:0003271	biolink:PhenotypicFeature	Visceromegaly	Abnormal increased size of the viscera of the abdomen.	SNOMEDCT_US:28543008|UMLS:C0042782	hp.json		http://purl.obolibrary.org/obo/HP_0003271							
HP:0003272	biolink:PhenotypicFeature	Abnormal hip bone morphology	An abnormality of the hip bone.	UMLS:C4021735	hp.json	Abnormality of the hip bone|Abnormality of the hips	http://purl.obolibrary.org/obo/HP_0003272							
HP:0003273	biolink:PhenotypicFeature	Hip contracture		SNOMEDCT_US:202283002|UMLS:C0409354	hp.json	Flexion contracture of hips|Flexion contractures of hips|Hip contractures|Hip flexion contractures	http://purl.obolibrary.org/obo/HP_0003273							
HP:0003274	biolink:PhenotypicFeature	Hypoplastic acetabulae	Underdeveloped acetabulae.	UMLS:C1846442	hp.json	Acetabular hypoplasia|Hypoplastic acetabula	http://purl.obolibrary.org/obo/HP_0003274							hposlim_core
HP:0003275	biolink:PhenotypicFeature	Narrow pelvis bone	Reduced side to side width of the pelvis.	UMLS:C1848103	hp.json	Narrow pelvis|Narrow pelvis bone	http://purl.obolibrary.org/obo/HP_0003275							hposlim_core
HP:0003276	biolink:PhenotypicFeature	Pelvic bone exostoses	A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.	UMLS:C1844689	hp.json	Pelvic exostoses	http://purl.obolibrary.org/obo/HP_0003276							
HP:0003277	biolink:PhenotypicFeature	Constricted iliac wing		UMLS:C1854785	hp.json	Constricted iliac wings	http://purl.obolibrary.org/obo/HP_0003277							
HP:0003278	biolink:PhenotypicFeature	Square pelvis bone	An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.	UMLS:C1849953	hp.json	Square pelvis|Square pelvis bone|Squared off pelvis	http://purl.obolibrary.org/obo/HP_0003278							
HP:0003279	biolink:PhenotypicFeature	Coxa magna	Widening of the femoral head and neck.	MSH:D000070603|SNOMEDCT_US:296041000119103|UMLS:C1860826	hp.json		http://purl.obolibrary.org/obo/HP_0003279							
HP:0003281	biolink:PhenotypicFeature	Increased circulating ferritin concentration	Increased concentration of ferritin in the blood circulation.	UMLS:C0241013|UMLS:C0743912|UMLS:C3854388	hp.json	Elevated serum ferritin|High ferritin level|Increased ferritin|Increased serum ferritin level|Hyperferritinaemia|Hyperferritinemia|Increased plasma ferritin	http://purl.obolibrary.org/obo/HP_0003281							
HP:0003282	biolink:PhenotypicFeature	Low alkaline phosphatase	Abnormally reduced serum levels of alkaline phosphatase.	UMLS:C1860130	hp.json	Low ALP|Decreased serum alkaline phosphatase	http://purl.obolibrary.org/obo/HP_0003282							
HP:0003286	biolink:PhenotypicFeature	Cystathioninemia	An increased concentration of cystathionine in the blood.	SNOMEDCT_US:6669004|UMLS:C0268618	hp.json	High blood cystathionine levels	http://purl.obolibrary.org/obo/HP_0003286							
HP:0003287	biolink:PhenotypicFeature	Abnormality of mitochondrial metabolism	A functional anomaly of mitochondria.	UMLS:C4021734	hp.json	Mitochondrial dysfunction	http://purl.obolibrary.org/obo/HP_0003287							
HP:0003288	biolink:PhenotypicFeature	Mitochondrial propionyl-CoA carboxylase defect		UMLS:C4025634	hp.json	Mitochondrial PCC defect	http://purl.obolibrary.org/obo/HP_0003288							
HP:0003292	biolink:PhenotypicFeature	Decreased serum leptin	A decreased concentration of leptin in the blood.	UMLS:C1837802	hp.json	Decreased serum leptin|Reduced circulating leptin level	http://purl.obolibrary.org/obo/HP_0003292							
HP:0003295	biolink:PhenotypicFeature	obsolete Impaired FSH and LH secretion			hp.json		http://purl.obolibrary.org/obo/HP_0003295							
HP:0003296	biolink:PhenotypicFeature	Hyperthreoninuria	An increased concentration of threonine in the urine.	UMLS:C2673931	hp.json	High urine threonine levels	http://purl.obolibrary.org/obo/HP_0003296							
HP:0003297	biolink:PhenotypicFeature	Hyperlysinuria	An increased concentration of lysine in the urine.	UMLS:C4021733	hp.json	High urine lysine levels|Lysinuria	http://purl.obolibrary.org/obo/HP_0003297							
HP:0003298	biolink:PhenotypicFeature	Spina bifida occulta	The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.	MSH:D016136|SNOMEDCT_US:76916001|UMLS:C0080174	hp.json		http://purl.obolibrary.org/obo/HP_0003298							hposlim_core
HP:0003300	biolink:PhenotypicFeature	Ovoid vertebral bodies	When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.	UMLS:C1855665|UMLS:C4020844	hp.json	Oval vertebral bodies|Ovoid vertebrae|Ovoid-shaped vertebral bodies|Bullet vertebral body	http://purl.obolibrary.org/obo/HP_0003300							
HP:0003301	biolink:PhenotypicFeature	Irregular vertebral endplates	An irregular surface of the vertebral end plates, which are normally relatively smooth.	UMLS:C1842153	hp.json	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							hposlim_core
HP:0003302	biolink:PhenotypicFeature	Spondylolisthesis	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.	MSH:D013168|SNOMEDCT_US:274152003|UMLS:C0038016	hp.json	Displacement of one backbone compared to another|Slipped backbone|Spondylolithesis	http://purl.obolibrary.org/obo/HP_0003302							
HP:0003304	biolink:PhenotypicFeature	Spondylolysis	Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.	MSH:D013169|SNOMEDCT_US:240221008|UMLS:C0038018	hp.json		http://purl.obolibrary.org/obo/HP_0003304							hposlim_core
HP:0003305	biolink:PhenotypicFeature	Block vertebrae	Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).	UMLS:C1844753	hp.json		http://purl.obolibrary.org/obo/HP_0003305							
HP:0003306	biolink:PhenotypicFeature	Spinal rigidity	Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.	UMLS:C1858025	hp.json	Reduced spine movement|Rigid spine	http://purl.obolibrary.org/obo/HP_0003306							
HP:0003307	biolink:PhenotypicFeature	Hyperlordosis	Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.	MSH:D008141|SNOMEDCT_US:249710008|SNOMEDCT_US:61960001|UMLS:C0024003	hp.json	Prominent swayback|Lordosis	http://purl.obolibrary.org/obo/HP_0003307							hposlim_core
HP:0003308	biolink:PhenotypicFeature	Cervical subluxation	A partial dislocation of one or more intervertebral joints in the cervical vertebral column.	UMLS:C1846798	hp.json		http://purl.obolibrary.org/obo/HP_0003308							
HP:0003309	biolink:PhenotypicFeature	Ovoid thoracolumbar vertebrae		UMLS:C1868556	hp.json	Ovoid thoracic and lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0003309							
HP:0003310	biolink:PhenotypicFeature	Abnormality of the odontoid process	Abnormality of the dens of the axis, which is also known as the odontoid process.	UMLS:C1864794	hp.json	Abnormal odontoid peg|Abnormal odontoid process	http://purl.obolibrary.org/obo/HP_0003310							
HP:0003311	biolink:PhenotypicFeature	Hypoplasia of the odontoid process	Developmental hypoplasia of the dens of the axis.	UMLS:C1846439	hp.json	Hypoplastic odontoid process|Odontoid hypoplasia|Small odontoid peg|Small odontoid process	http://purl.obolibrary.org/obo/HP_0003311							hposlim_core
HP:0003312	biolink:PhenotypicFeature	Abnormal form of the vertebral bodies	Abnormal morphology of vertebral body.	UMLS:C1839326	hp.json	Abnormally shaped vertebrae	http://purl.obolibrary.org/obo/HP_0003312							
HP:0003316	biolink:PhenotypicFeature	Butterfly vertebrae	A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.	UMLS:C1844752	hp.json	Butterfly vertebrae|Anterior rachischisis|Sagittal clefting of vertebrae	http://purl.obolibrary.org/obo/HP_0003316							
HP:0003318	biolink:PhenotypicFeature	Cervical spine hypermobility		SNOMEDCT_US:298186005|UMLS:C0574967	hp.json	Cervical spine joint hypermobility	http://purl.obolibrary.org/obo/HP_0003318							
HP:0003319	biolink:PhenotypicFeature	Abnormality of the cervical spine	Any abnormality of the cervical vertebral column.	UMLS:C1852464	hp.json	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							
HP:0003320	biolink:PhenotypicFeature	C1-C2 subluxation	A partial dislocation of the atlantoaxial joints.	UMLS:C1848446	hp.json		http://purl.obolibrary.org/obo/HP_0003320							
HP:0003321	biolink:PhenotypicFeature	Biconcave flattened vertebrae		UMLS:C1833753	hp.json		http://purl.obolibrary.org/obo/HP_0003321							
HP:0003323	biolink:PhenotypicFeature	Progressive muscle weakness		UMLS:C0240421	hp.json	Muscle weakness, progressive|Progressive muscular weakness	http://purl.obolibrary.org/obo/HP_0003323							
HP:0003324	biolink:PhenotypicFeature	Generalized muscle weakness	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.	UMLS:C0746674	hp.json	Generalised muscle weakness|Generalised weakness|Muscle weakness, generalised|Generalized weakness|Muscle weakness, diffuse|Muscle weakness, generalized	http://purl.obolibrary.org/obo/HP_0003324							
HP:0003325	biolink:PhenotypicFeature	Limb-girdle muscle weakness	Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.	UMLS:C1858127	hp.json	Limb girdle weakness|Muscle weakness, limb-girdle|Muscular weakness, limb-girdle	http://purl.obolibrary.org/obo/HP_0003325							
HP:0003326	biolink:PhenotypicFeature	Myalgia	Pain in muscle.	MSH:D063806|SNOMEDCT_US:68962001|UMLS:C0231528	hp.json	Muscle ache|Muscle pain|Myalgias	http://purl.obolibrary.org/obo/HP_0003326							
HP:0003327	biolink:PhenotypicFeature	Axial muscle weakness	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).	UMLS:C1843697	hp.json		http://purl.obolibrary.org/obo/HP_0003327							
HP:0003328	biolink:PhenotypicFeature	Abnormal hair laboratory examination		UMLS:C4025632	hp.json		http://purl.obolibrary.org/obo/HP_0003328							
HP:0003329	biolink:PhenotypicFeature	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes		UMLS:C4025631	hp.json		http://purl.obolibrary.org/obo/HP_0003329							
HP:0003330	biolink:PhenotypicFeature	Abnormal bone structure	Any anomaly in the composite material or the layered arrangement of the bony skeleton.	UMLS:C4025630	hp.json		http://purl.obolibrary.org/obo/HP_0003330							
HP:0003332	biolink:PhenotypicFeature	Absent primary metaphyseal spongiosa		UMLS:C3277126	hp.json		http://purl.obolibrary.org/obo/HP_0003332							
HP:0003333	biolink:PhenotypicFeature	Increased serum beta-hexosaminidase		UMLS:C2673361	hp.json		http://purl.obolibrary.org/obo/HP_0003333							
HP:0003334	biolink:PhenotypicFeature	Elevated circulating catecholamine level	An abnormal increase in catecholamine concentration in the blood.	UMLS:C4025629	hp.json		http://purl.obolibrary.org/obo/HP_0003334							
HP:0003335	biolink:PhenotypicFeature	obsolete Low gonadotropins (secondary hypogonadism)			hp.json		http://purl.obolibrary.org/obo/HP_0003335							
HP:0003336	biolink:PhenotypicFeature	Abnormal enchondral ossification	An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.	UMLS:C4025628	hp.json		http://purl.obolibrary.org/obo/HP_0003336							
HP:0003337	biolink:PhenotypicFeature	Reduced prothrombin consumption	The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.	UMLS:C4021732	hp.json	Poor prothrombin consumption	http://purl.obolibrary.org/obo/HP_0003337							
HP:0003338	biolink:PhenotypicFeature	Focal necrosis of right ventricular muscle cells		UMLS:C4025627	hp.json		http://purl.obolibrary.org/obo/HP_0003338							
HP:0003339	biolink:PhenotypicFeature	Pyrimidine-responsive megaloblastic anemia	A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.	UMLS:C4021731	hp.json	Anaemia corrected by uridylic acid and cytidylic acid|Pyrimidine-responsive megaloblastic anaemia|Anemia corrected by uridylic acid and cytidylic acid	http://purl.obolibrary.org/obo/HP_0003339							
HP:0003340	biolink:PhenotypicFeature	obsolete Abnormal dermatological laboratory findings			hp.json		http://purl.obolibrary.org/obo/HP_0003340							
HP:0003341	biolink:PhenotypicFeature	Subepidermal blistering with cleavage in the lamina lucida	The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.	UMLS:C4021730	hp.json	Blistering with junctional split|Junctional split|Subepidermal blistering with cleavage in the lamina lucida	http://purl.obolibrary.org/obo/HP_0003341							
HP:0003343	biolink:PhenotypicFeature	Reduced glutathione synthetase level	Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.	MSH:C536835|SNOMEDCT_US:124706000|SNOMEDCT_US:234589002|SNOMEDCT_US:39112005|UMLS:C0398746	hp.json	Glutathione synthetase deficiency	http://purl.obolibrary.org/obo/HP_0003343							
HP:0003344	biolink:PhenotypicFeature	3-Methylglutaric aciduria		UMLS:C3151952	hp.json	3-methylglutaricaciduria	http://purl.obolibrary.org/obo/HP_0003344							
HP:0003345	biolink:PhenotypicFeature	Elevated urinary norepinephrine	An increased concentration of noradrenaline in the urine.	UMLS:C4025626	hp.json		http://purl.obolibrary.org/obo/HP_0003345							
HP:0003347	biolink:PhenotypicFeature	Impaired lymphocyte transformation with phytohemagglutinin	Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.	UMLS:C4025625	hp.json		http://purl.obolibrary.org/obo/HP_0003347							
HP:0003348	biolink:PhenotypicFeature	Hyperalaninemia	An increased concentration of alanine in the blood.	MSH:C562684|SNOMEDCT_US:2359002|UMLS:C0268630|UMLS:C1839424|UMLS:C1849489	hp.json	Increased blood alanine|Increased serum alanine	http://purl.obolibrary.org/obo/HP_0003348							
HP:0003349	biolink:PhenotypicFeature	Low cholesterol esterification rate	A reduction in the rate of cholesterol esterification.	UMLS:C1843371	hp.json		http://purl.obolibrary.org/obo/HP_0003349							
HP:0003351	biolink:PhenotypicFeature	Decreased circulating renin level	An decreased level of renin in the blood.	UMLS:C1845206	hp.json	Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity	http://purl.obolibrary.org/obo/HP_0003351							
HP:0003352	biolink:PhenotypicFeature	Endopolyploidy on chromosome studies of bone marrow	An increase in the number of chromosome sets per cell in bone marrow cells.	UMLS:C4025624	hp.json		http://purl.obolibrary.org/obo/HP_0003352							
HP:0003353	biolink:PhenotypicFeature	Propionyl-CoA carboxylase deficiency	An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.	MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579	hp.json		http://purl.obolibrary.org/obo/HP_0003353							
HP:0003354	biolink:PhenotypicFeature	Hyperthreoninemia	An increased concentration of threonine in the blood.	UMLS:C1848861	hp.json	High blood threonine levels|Elevated circulating threonine	http://purl.obolibrary.org/obo/HP_0003354							
HP:0003355	biolink:PhenotypicFeature	Aminoaciduria	An increased concentration of an amino acid in the urine.	SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843	hp.json	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							
HP:0003357	biolink:PhenotypicFeature	Thymic hormone decreased	A reduction in the level of thymic horomone.	UMLS:C1857652	hp.json	Decreased thymic hormone	http://purl.obolibrary.org/obo/HP_0003357							
HP:0003358	biolink:PhenotypicFeature	Elevated intracellular cystine	An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.	UMLS:C4025623	hp.json		http://purl.obolibrary.org/obo/HP_0003358							
HP:0003359	biolink:PhenotypicFeature	Decreased urinary sulfate	Decreased concentration of sulfate in the urine.	UMLS:C1848958	hp.json	Decreased urinary sulfate|Decreased urinary sulphate	http://purl.obolibrary.org/obo/HP_0003359							
HP:0003361	biolink:PhenotypicFeature	Tryptophanuria	An increased concentration of tryptophan in the urine.	SNOMEDCT_US:18789002|UMLS:C0268472	hp.json	High urine tryptophan levels	http://purl.obolibrary.org/obo/HP_0003361							
HP:0003362	biolink:PhenotypicFeature	Increased VLDL cholesterol concentration	An increase in the amount of very-low-density lipoprotein cholesterol in the blood.	UMLS:C4021729	hp.json	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							
HP:0003363	biolink:PhenotypicFeature	Abdominal situs inversus	A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.	Fyler:3816|MSH:D012857|SNOMEDCT_US:27317008|SNOMEDCT_US:43876007|UMLS:C0037221	hp.json	Situs inversus visceralis|Situs inversus viscerum	http://purl.obolibrary.org/obo/HP_0003363							
HP:0003365	biolink:PhenotypicFeature	Arthralgia of the hip	Joint pain affecting the hip.	SNOMEDCT_US:49218002|UMLS:C0019559	hp.json	Hip joint pain|Coxalgia|Hip arthralgia	http://purl.obolibrary.org/obo/HP_0003365							
HP:0003366	biolink:PhenotypicFeature	Abnormal femoral neck/head morphology		UMLS:C4025622	hp.json	Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region	http://purl.obolibrary.org/obo/HP_0003366							
HP:0003367	biolink:PhenotypicFeature	Abnormal femoral neck morphology	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	UMLS:C4025621	hp.json	Abnormal neck of thigh bone|Abnormality of the femoral neck	http://purl.obolibrary.org/obo/HP_0003367							
HP:0003368	biolink:PhenotypicFeature	Abnormal femoral head morphology	An abnormality of the femoral head.	UMLS:C4025620	hp.json	Abnormal head of thigh bone|Abnormality of the femoral head	http://purl.obolibrary.org/obo/HP_0003368							
HP:0003370	biolink:PhenotypicFeature	Flat capital femoral epiphysis	An abnormal flattening of the proximal epiphysis of the femur.	UMLS:C1842155	hp.json	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							
HP:0003371	biolink:PhenotypicFeature	Enlargement of the proximal femoral epiphysis	An abnormal enlargement of the proximal epiphysis of the femur.	UMLS:C1859697	hp.json	Enlarged end part of innermost thighbone|Enlarged capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0003371							
HP:0003375	biolink:PhenotypicFeature	Narrow greater sciatic notch	A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.	SNOMEDCT_US:289457006|UMLS:C0566888	hp.json	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							
HP:0003376	biolink:PhenotypicFeature	Steppage gait	An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.	MSH:D020233|SNOMEDCT_US:27253007|UMLS:C0427149	hp.json	High stepping|'steppage' gait	http://purl.obolibrary.org/obo/HP_0003376							
HP:0003378	biolink:PhenotypicFeature	Axonal degeneration/regeneration	A pattern of simultaneous degeneration and regeneration of axons (see comment).	UMLS:C1968790	hp.json	Axon degeneration and regeneration	http://purl.obolibrary.org/obo/HP_0003378							
HP:0003380	biolink:PhenotypicFeature	Decreased number of peripheral myelinated nerve fibers	A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).	UMLS:C1858285	hp.json	Decreased number of large and small myelinated fibres|Decreased number of peripheral myelinated nerve fibres|Loss of myelinated fibres|Decreased number of large and small myelinated fibers|Loss of myelinated fibers	http://purl.obolibrary.org/obo/HP_0003380							
HP:0003382	biolink:PhenotypicFeature	Hypertrophic nerve changes		UMLS:C1832776	hp.json		http://purl.obolibrary.org/obo/HP_0003382							
HP:0003383	biolink:PhenotypicFeature	Onion bulb formation	Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.	UMLS:C1847906	hp.json	'Onion bulb' formations|Onion bulb formations	http://purl.obolibrary.org/obo/HP_0003383							
HP:0003384	biolink:PhenotypicFeature	Peripheral axonal atrophy	Atrophic changes of axons of the peripheral nervous system.	UMLS:C4025619	hp.json		http://purl.obolibrary.org/obo/HP_0003384							
HP:0003387	biolink:PhenotypicFeature	Decreased number of large peripheral myelinated nerve fibers	A reduced number of large myelinated nerve fibers.	UMLS:C1859606	hp.json	Decreased number of large peripheral myelinated nerve fibres|Depletion of large myelinated fibres|Loss of large myelinated fibres|Loss of larger 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							
HP:0003388	biolink:PhenotypicFeature	Easy fatigability	Increased susceptibility to fatigue.	SNOMEDCT_US:248268002|UMLS:C0424585|UMLS:C1837098	hp.json	Tired easily	http://purl.obolibrary.org/obo/HP_0003388							
HP:0003390	biolink:PhenotypicFeature	Sensory axonal neuropathy	An axonal neuropathy of peripheral sensory nerves.	UMLS:C1842587|UMLS:C1970883	hp.json	Axonal sensory neuropathy|Peripheral sensory axonal neuropathy	http://purl.obolibrary.org/obo/HP_0003390							
HP:0003391	biolink:PhenotypicFeature	Gowers sign	A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.	SNOMEDCT_US:298294005|SNOMEDCT_US:85905009|UMLS:C0234182|UMLS:C0575071	hp.json	Gower sign|Positive Gower sign|Positive Gowers sign	http://purl.obolibrary.org/obo/HP_0003391							
HP:0003392	biolink:PhenotypicFeature	First dorsal interossei muscle weakness		UMLS:C1832277	hp.json		http://purl.obolibrary.org/obo/HP_0003392							
HP:0003393	biolink:PhenotypicFeature	Thenar muscle atrophy	Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.	UMLS:C1864715	hp.json	Thenar atrophy	http://purl.obolibrary.org/obo/HP_0003393							
HP:0003394	biolink:PhenotypicFeature	Muscle spasm	Sudden and involuntary contractions of one or more muscles.	MSH:D009120|SNOMEDCT_US:55300003|UMLS:C0026821	hp.json	Muscle cramps	http://purl.obolibrary.org/obo/HP_0003394							
HP:0003396	biolink:PhenotypicFeature	Syringomyelia	Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.	MSH:D013595|SNOMEDCT_US:111496009|UMLS:C0039144	hp.json	Fluid-filled cyst in spinal cord|Syrinx	http://purl.obolibrary.org/obo/HP_0003396							
HP:0003397	biolink:PhenotypicFeature	Generalized hypotonia due to defect at the neuromuscular junction		UMLS:C1853950	hp.json	Generalised hypotonia due to defect at the neuromuscular junction	http://purl.obolibrary.org/obo/HP_0003397							
HP:0003398	biolink:PhenotypicFeature	Abnormal synaptic transmission at the neuromuscular junction	Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.	UMLS:C4020842|UMLS:C4025618	hp.json	Abnormality of neuromuscular transmission	http://purl.obolibrary.org/obo/HP_0003398							
HP:0003400	biolink:PhenotypicFeature	Basal lamina onion bulb formation	A type of onion bulb formation prominently affecting the area of the basal lamina.	UMLS:C1866637	hp.json	Basal lamina 'onion bulb' formations on nerve biopsy	http://purl.obolibrary.org/obo/HP_0003400							
HP:0003401	biolink:PhenotypicFeature	Paresthesia	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.	MSH:D010292|SNOMEDCT_US:91019004|UMLS:C0030554	hp.json	Pins and needles feeling|Tingling|Paresthesias	http://purl.obolibrary.org/obo/HP_0003401							
HP:0003402	biolink:PhenotypicFeature	Decreased miniature endplate potentials	An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.	UMLS:C1853952	hp.json	Decreased MEPP|Small miniature endplate currents|Small miniature endplate potentials	http://purl.obolibrary.org/obo/HP_0003402							
HP:0003403	biolink:PhenotypicFeature	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.	UMLS:C4020841|UMLS:C4021728	hp.json	EMG: decremental response of CMAP to repetitive nerve stimulation|EMG: decrement at repetitive stimulation	http://purl.obolibrary.org/obo/HP_0003403							
HP:0003405	biolink:PhenotypicFeature	Diffuse axonal swelling		UMLS:C1865417	hp.json		http://purl.obolibrary.org/obo/HP_0003405							
HP:0003406	biolink:PhenotypicFeature	Peripheral nerve compression		UMLS:C1851414	hp.json		http://purl.obolibrary.org/obo/HP_0003406							
HP:0003409	biolink:PhenotypicFeature	Distal sensory impairment of all modalities		UMLS:C1836527	hp.json	Distal sensory loss to all modalities	http://purl.obolibrary.org/obo/HP_0003409							
HP:0003411	biolink:PhenotypicFeature	Proximal femoral metaphyseal irregularity	Irregularity of the normally smooth surface of the proximal metaphysis of the femur.	UMLS:C1836320	hp.json	Irregular proximal femoral metaphyses	http://purl.obolibrary.org/obo/HP_0003411							
HP:0003413	biolink:PhenotypicFeature	Atlantoaxial abnormality	An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.	UMLS:C4025617	hp.json		http://purl.obolibrary.org/obo/HP_0003413							
HP:0003414	biolink:PhenotypicFeature	Atlantoaxial dislocation	Partial dislocation of the atlantoaxial joint.	SNOMEDCT_US:263042007|SNOMEDCT_US:45179004|UMLS:C0263905	hp.json	Atlanto-axial subluxation|Atlantoaxial subluxation	http://purl.obolibrary.org/obo/HP_0003414							
HP:0003416	biolink:PhenotypicFeature	Spinal canal stenosis	An abnormal narrowing of the spinal canal.	UMLS:C1861329	hp.json	Narrow spinal canal|Spinal stenosis	http://purl.obolibrary.org/obo/HP_0003416							hposlim_core
HP:0003417	biolink:PhenotypicFeature	Coronal cleft vertebrae	Frontal schisis (cleft or cleavage) of vertebral bodies.	UMLS:C1834954	hp.json	Coronal clefts|Coronal vertebral clefts|Vertebral coronal clefts|coronal cleft of vertebrae	http://purl.obolibrary.org/obo/HP_0003417							
HP:0003418	biolink:PhenotypicFeature	Back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.	MSH:D001416|SNOMEDCT_US:161891005|UMLS:C0004604	hp.json	Back pain	http://purl.obolibrary.org/obo/HP_0003418							
HP:0003419	biolink:PhenotypicFeature	Low back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.	MSH:D017116|SNOMEDCT_US:279039007|UMLS:C0024031	hp.json	Lower back pain	http://purl.obolibrary.org/obo/HP_0003419							
HP:0003421	biolink:PhenotypicFeature	obsolete Platyspondyly (childhood)			hp.json		http://purl.obolibrary.org/obo/HP_0003421							
HP:0003422	biolink:PhenotypicFeature	Vertebral segmentation defect	An abnormality related to a defect of vertebral separation during development.	SNOMEDCT_US:205455005|UMLS:C0432163	hp.json	Abnormal spinal segmentation	http://purl.obolibrary.org/obo/HP_0003422							hposlim_core
HP:0003423	biolink:PhenotypicFeature	Thoracolumbar kyphoscoliosis		UMLS:C1859335	hp.json	Dorsolumbar kyphosis	http://purl.obolibrary.org/obo/HP_0003423							
HP:0003426	biolink:PhenotypicFeature	First dorsal interossei muscle atrophy		UMLS:C1832278	hp.json		http://purl.obolibrary.org/obo/HP_0003426							
HP:0003427	biolink:PhenotypicFeature	Thenar muscle weakness		UMLS:C1832276	hp.json		http://purl.obolibrary.org/obo/HP_0003427							
HP:0003429	biolink:PhenotypicFeature	CNS hypomyelination	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.	SNOMEDCT_US:111007000|UMLS:C0544820|UMLS:C4025616	hp.json	hypomyelination	http://purl.obolibrary.org/obo/HP_0003429							
HP:0003431	biolink:PhenotypicFeature	Decreased motor nerve conduction velocity	A type of decreased nerve conduction velocity that affects the motor neuron.	UMLS:C1858729	hp.json	Decreased motor NCV|Decreased motor nerve conduction velocities|Reduced motor nerve conduction velocity	http://purl.obolibrary.org/obo/HP_0003431							
HP:0003434	biolink:PhenotypicFeature	Sensory ataxic neuropathy		UMLS:C1843859	hp.json		http://purl.obolibrary.org/obo/HP_0003434							
HP:0003435	biolink:PhenotypicFeature	Cold-induced hand cramps		UMLS:C1832279	hp.json		http://purl.obolibrary.org/obo/HP_0003435							
HP:0003436	biolink:PhenotypicFeature	Prolonged miniature endplate currents	An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.	UMLS:C1864238	hp.json	Prolonged MEPC|Prolonged MEPP|Prolonged miniature endplate potentials	http://purl.obolibrary.org/obo/HP_0003436							
HP:0003438	biolink:PhenotypicFeature	Absent Achilles reflex	Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.	MSH:D012021|SNOMEDCT_US:274818004|UMLS:C0558845	hp.json	Absent ankle reflexes	http://purl.obolibrary.org/obo/HP_0003438							
HP:0003440	biolink:PhenotypicFeature	Horizontal sacrum		UMLS:C1850558	hp.json		http://purl.obolibrary.org/obo/HP_0003440							hposlim_core
HP:0003443	biolink:PhenotypicFeature	Decreased size of nerve terminals	A reduction in the size of nerve terminals.	UMLS:C4025615	hp.json		http://purl.obolibrary.org/obo/HP_0003443							
HP:0003444	biolink:PhenotypicFeature	EMG: chronic denervation signs	Evidence of chronic denervation on electromyography.	UMLS:C4025614	hp.json		http://purl.obolibrary.org/obo/HP_0003444							
HP:0003445	biolink:PhenotypicFeature	EMG: neuropathic changes	The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).	UMLS:C4021727	hp.json	EMG: neurogenic abnormalities|EMG: neurogenic changes|EMG: neurogenic findings	http://purl.obolibrary.org/obo/HP_0003445							
HP:0003447	biolink:PhenotypicFeature	Axonal loss	A reduction in the number of axons in the peripheral nervous system.	UMLS:C1832338	hp.json		http://purl.obolibrary.org/obo/HP_0003447							
HP:0003448	biolink:PhenotypicFeature	Decreased sensory nerve conduction velocity	Reduced speed of conduction of the action potential along a sensory nerve.	UMLS:C1849148	hp.json	Decreased sensory NCV|Decreased sensory nerve conduction velocities	http://purl.obolibrary.org/obo/HP_0003448							
HP:0003449	biolink:PhenotypicFeature	Cold-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.	UMLS:C1861675	hp.json		http://purl.obolibrary.org/obo/HP_0003449							
HP:0003450	biolink:PhenotypicFeature	Axonal regeneration	The presence of axonal regeneration following a previous axonal lesion.	UMLS:C1854454	hp.json	Regenerative activity on nerve biopsy	http://purl.obolibrary.org/obo/HP_0003450							
HP:0003451	biolink:PhenotypicFeature	Increased rate of premature chromosome condensation	An increased rate of premature chromosome condensation.	UMLS:C4025613	hp.json		http://purl.obolibrary.org/obo/HP_0003451							
HP:0003452	biolink:PhenotypicFeature	Increased serum iron		SNOMEDCT_US:165624002|UMLS:C0151900	hp.json		http://purl.obolibrary.org/obo/HP_0003452							
HP:0003453	biolink:PhenotypicFeature	Antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against neutrophils.	UMLS:C1858981	hp.json	Antineutrophil antibodies|Neutrophil antibody positive	http://purl.obolibrary.org/obo/HP_0003453							
HP:0003454	biolink:PhenotypicFeature	Platelet antibody positive	The presence in the serum of autoantibodies directed against thrombocytes.	UMLS:C1858980	hp.json	Platelet antibody	http://purl.obolibrary.org/obo/HP_0003454							
HP:0003455	biolink:PhenotypicFeature	Elevated circulating long chain fatty acid concentration	Increased concentration of long-chain fatty acids in the blood circulation.	UMLS:C1859241	hp.json	Elevated long chain fatty acids|Elevated serum long-chain fatty acids|Increased serum long-chain fatty acids	http://purl.obolibrary.org/obo/HP_0003455							
HP:0003456	biolink:PhenotypicFeature	Low urinary cyclic AMP response to PTH administration		UMLS:C1864105	hp.json		http://purl.obolibrary.org/obo/HP_0003456							
HP:0003457	biolink:PhenotypicFeature	EMG abnormality	Abnormal results of investigations using electromyography (EMG).	SNOMEDCT_US:274523007|UMLS:C0476403	hp.json	Abnormal EMG|Abnormal electromyography finding|EMG abnormalities|Electromyogram abnormal	http://purl.obolibrary.org/obo/HP_0003457							
HP:0003458	biolink:PhenotypicFeature	EMG: myopathic abnormalities	The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.	UMLS:C4021726	hp.json	EMG: myopathic changes|EMG: myopathy|Myopathic electromyogram	http://purl.obolibrary.org/obo/HP_0003458							
HP:0003459	biolink:PhenotypicFeature	Polyclonal elevation of IgM	A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.	UMLS:C4025612	hp.json		http://purl.obolibrary.org/obo/HP_0003459							
HP:0003460	biolink:PhenotypicFeature	Decreased circulating total IgA	Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).	UMLS:C4025611	hp.json	Decreased total IgA in blood|Total immunoglobulin A deficiency	http://purl.obolibrary.org/obo/HP_0003460							
HP:0003461	biolink:PhenotypicFeature	Increased urinary O-linked sialopeptides	Excretion of peptides conjugated to sialic acid in the urine.	UMLS:C1836533	hp.json		http://purl.obolibrary.org/obo/HP_0003461							
HP:0003462	biolink:PhenotypicFeature	Elevated 8-dehydrocholesterol		UMLS:C1840013	hp.json		http://purl.obolibrary.org/obo/HP_0003462							
HP:0003463	biolink:PhenotypicFeature	Increased extraneuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.	UMLS:C1859828	hp.json	Lipopigment in extraneuronal cells	http://purl.obolibrary.org/obo/HP_0003463							
HP:0003464	biolink:PhenotypicFeature	obsolete Abnormal cholesterol homeostasis			hp.json		http://purl.obolibrary.org/obo/HP_0003464							
HP:0003465	biolink:PhenotypicFeature	Elevated 8(9)-cholestenol		UMLS:C1840014	hp.json		http://purl.obolibrary.org/obo/HP_0003465							
HP:0003466	biolink:PhenotypicFeature	Paradoxical increased cortisol secretion on dexamethasone suppression test		UMLS:C1968855	hp.json		http://purl.obolibrary.org/obo/HP_0003466							
HP:0003467	biolink:PhenotypicFeature	Atlantoaxial instability	Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.	SNOMEDCT_US:202820009|UMLS:C0410653	hp.json		http://purl.obolibrary.org/obo/HP_0003467							hposlim_core
HP:0003468	biolink:PhenotypicFeature	Abnormal vertebral morphology	An abnormality of one or more of the vertebrae.	Fyler:4108|SNOMEDCT_US:205043005|SNOMEDCT_US:74877002|UMLS:C0158775|UMLS:C4020839|UMLS:C4020840	hp.json	Abnormal vertebrae|Abnormality of the vertebrae|Vertebral anomalies|Abnormal vertebral bodies|Multiple vertebral anomalies	http://purl.obolibrary.org/obo/HP_0003468							
HP:0003469	biolink:PhenotypicFeature	Peripheral dysmyelination	Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.	UMLS:C4025610	hp.json		http://purl.obolibrary.org/obo/HP_0003469							
HP:0003470	biolink:PhenotypicFeature	Paralysis	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.	MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224	hp.json	Inability to move|Paralysis	http://purl.obolibrary.org/obo/HP_0003470							
HP:0003472	biolink:PhenotypicFeature	Hypocalcemic tetany	Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.	SNOMEDCT_US:190869004|UMLS:C0151940	hp.json		http://purl.obolibrary.org/obo/HP_0003472							
HP:0003473	biolink:PhenotypicFeature	Fatigable weakness	A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C0947912	hp.json	Generalised muscle weakness due to defect at the neuromuscular junction|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							
HP:0003474	biolink:PhenotypicFeature	Somatic sensory dysfunction	An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.	MSH:D006987|SNOMEDCT_US:397974008|SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|UMLS:C0020580	hp.json	Sensory impairment	http://purl.obolibrary.org/obo/HP_0003474							
HP:0003477	biolink:PhenotypicFeature	Peripheral axonal neuropathy	An abnormality characterized by disruption of the normal functioning of peripheral axons.	SNOMEDCT_US:128208007|SNOMEDCT_US:60703000|UMLS:C0270921|UMLS:C1263857	hp.json	Axonal neuropathy|Axonal peripheral neuropathy	http://purl.obolibrary.org/obo/HP_0003477							
HP:0003481	biolink:PhenotypicFeature	Segmental peripheral demyelination/remyelination	A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.	UMLS:C1843077	hp.json	Segmental demyelination/remyelination	http://purl.obolibrary.org/obo/HP_0003481							
HP:0003482	biolink:PhenotypicFeature	EMG: axonal abnormality	Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.	UMLS:C4025609	hp.json		http://purl.obolibrary.org/obo/HP_0003482							
HP:0003484	biolink:PhenotypicFeature	Upper limb muscle weakness	Weakness of the muscles of the arms.	SNOMEDCT_US:713512009|UMLS:C1698196	hp.json	Decreased arm strength|Weak arm	http://purl.obolibrary.org/obo/HP_0003484							
HP:0003487	biolink:PhenotypicFeature	Babinski sign	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.	SNOMEDCT_US:246586009|SNOMEDCT_US:366575004|UMLS:C0034935	hp.json	Extensor plantar reflexes|Extensor plantar response|Extensor plantar responses|Positive Babinski sign	http://purl.obolibrary.org/obo/HP_0003487							
HP:0003489	biolink:PhenotypicFeature	Acute episodes of neuropathic symptoms		UMLS:C1867971	hp.json		http://purl.obolibrary.org/obo/HP_0003489							
HP:0003490	biolink:PhenotypicFeature	obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA			hp.json		http://purl.obolibrary.org/obo/HP_0003490							
HP:0003491	biolink:PhenotypicFeature	Elevated urine pyrophosphate	An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.	UMLS:C4025607	hp.json		http://purl.obolibrary.org/obo/HP_0003491							
HP:0003492	biolink:PhenotypicFeature	High urinary gonadotropin level	An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.	UMLS:C4025606	hp.json		http://purl.obolibrary.org/obo/HP_0003492							
HP:0003493	biolink:PhenotypicFeature	Antinuclear antibody positivity	The presence of autoantibodies in the serum that react against nuclei or nuclear components.	SNOMEDCT_US:165850001|UMLS:C0151480	hp.json	Antinuclear antibodies|Antinuclear antibody positive|Elevated antinuclear antibody|Serum antinuclear antibody	http://purl.obolibrary.org/obo/HP_0003493							
HP:0003494	biolink:PhenotypicFeature	obsolete Loss of heterozygosity, multiple chromosomes			hp.json		http://purl.obolibrary.org/obo/HP_0003494							
HP:0003495	biolink:PhenotypicFeature	GM2-ganglioside accumulation	Cellular accumulation of GM2 gangliosides.	UMLS:C1848920	hp.json		http://purl.obolibrary.org/obo/HP_0003495							
HP:0003496	biolink:PhenotypicFeature	Increased circulating IgM level	An abnormally increased level of immunoglobulin M in blood.	UMLS:C1839972	hp.json	Increased IgM levels|Increased levels of IgM	http://purl.obolibrary.org/obo/HP_0003496							
HP:0003498	biolink:PhenotypicFeature	Disproportionate short stature	A kind of short stature in which different regions of the body are shortened to differing extents.	UMLS:C0878659|UMLS:C1846797	hp.json	Short stature, disproportionate|Short stature, severe disproportionate	http://purl.obolibrary.org/obo/HP_0003498							
HP:0003502	biolink:PhenotypicFeature	Mild short stature	A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.	UMLS:C3150077|UMLS:C4020838	hp.json	short stature, mild|Relative short stature	http://purl.obolibrary.org/obo/HP_0003502							
HP:0003508	biolink:PhenotypicFeature	Proportionate short stature	A kind of short stature in which different regions of the body are shortened to a comparable extent.	UMLS:C0878660	hp.json	Proportionate small stature|Short stature, proportionate	http://purl.obolibrary.org/obo/HP_0003508							
HP:0003510	biolink:PhenotypicFeature	Severe short stature	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.	MSH:D004392|SNOMEDCT_US:237836003|SNOMEDCT_US:237837007|SNOMEDCT_US:422065006|UMLS:C0013336	hp.json	Dwarfism|Proportionate dwarfism|Severe short stature|Short stature, severe|Short stature, extreme	http://purl.obolibrary.org/obo/HP_0003510							
HP:0003513	biolink:PhenotypicFeature	Reduced ratio of renal calcium clearance to creatinine clearance	A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.	UMLS:C4025605	hp.json	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							
HP:0003514	biolink:PhenotypicFeature	Deficiency or absence of cytochrome b(-245)		UMLS:C1844390	hp.json	Deficiency or absence of cytochrome b	http://purl.obolibrary.org/obo/HP_0003514							
HP:0003517	biolink:PhenotypicFeature	Birth length greater than 97th percentile		UMLS:C1839271	hp.json	Foetal overgrowth|Fetal overgrowth	http://purl.obolibrary.org/obo/HP_0003517							
HP:0003521	biolink:PhenotypicFeature	Disproportionate short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.	UMLS:C1846435	hp.json	Disproportionate short-trunked dwarfism|Disproportionate short-trunked short stature|Short-trunked dwarfism	http://purl.obolibrary.org/obo/HP_0003521							
HP:0003524	biolink:PhenotypicFeature	Decreased methionine synthase activity	A reduction in methionine synthase activity.	UMLS:C1848580	hp.json	Decreased activity of methionine synthase|Methionine synthase activity decreased|Methionine synthase deficiency|Reduced methionine synthase activity	http://purl.obolibrary.org/obo/HP_0003524							
HP:0003526	biolink:PhenotypicFeature	Orotic acid crystalluria	Formation of crystals owing to an increased concentration of orotic acid in the urine.	UMLS:C3278626	hp.json		http://purl.obolibrary.org/obo/HP_0003526							
HP:0003527	biolink:PhenotypicFeature	Hyperprostaglandinuria	An increased concentration of prostaglandin in the urine.	UMLS:C1866498	hp.json	High urine prostaglandin levels	http://purl.obolibrary.org/obo/HP_0003527							
HP:0003528	biolink:PhenotypicFeature	Elevated calcitonin		UMLS:C1868394	hp.json	Elevated calcitonin	http://purl.obolibrary.org/obo/HP_0003528							
HP:0003529	biolink:PhenotypicFeature	Parathormone-independent increased renal tubular calcium reabsorption	An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.	UMLS:C4025604	hp.json	Parathormone-independent increased renal tubular Ca reabsorption|Parathormone-independent increased renal tubular Ca2+ reabsorption	http://purl.obolibrary.org/obo/HP_0003529							
HP:0003530	biolink:PhenotypicFeature	Elevated circulating glutaric acid concentration	An increased concentration of glutaric acid in the blood.	UMLS:C4025603	hp.json	Glutarate acidemia|Glutaric acidemia	http://purl.obolibrary.org/obo/HP_0003530							
HP:0003532	biolink:PhenotypicFeature	Ornithinuria	An increased concentration of ornithine in the urine.	UMLS:C4025602	hp.json		http://purl.obolibrary.org/obo/HP_0003532							
HP:0003533	biolink:PhenotypicFeature	Reduced acetaldehyde dehydrogenase level	Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.	UMLS:C4025601	hp.json	Delayed oxidation of acetaldehyde	http://purl.obolibrary.org/obo/HP_0003533							
HP:0003534	biolink:PhenotypicFeature	Reduced xanthine dehydrogenase level	An abnormal reduction in xanthine dehydrogenase level.	MSH:C562584|SNOMEDCT_US:124147007|SNOMEDCT_US:72682008|UMLS:C0268118|UMLS:C4025600	hp.json	Xanthine dehydrogenase deficiency	http://purl.obolibrary.org/obo/HP_0003534							
HP:0003535	biolink:PhenotypicFeature	3-Methylglutaconic aciduria	An increased amount of 3-methylglutaconic acid in the urine.	MSH:C579867|SNOMEDCT_US:237950009|UMLS:C3696376	hp.json	3-Methylglutaconicaciduria	http://purl.obolibrary.org/obo/HP_0003535							
HP:0003536	biolink:PhenotypicFeature	Decreased fumarate hydratase activity	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.	UMLS:C1853903	hp.json		http://purl.obolibrary.org/obo/HP_0003536							
HP:0003537	biolink:PhenotypicFeature	Hypouricemia	An abnormally low level of uric acid in the blood.	SNOMEDCT_US:4519003|UMLS:C0221333	hp.json	Low blood uric acid levels	http://purl.obolibrary.org/obo/HP_0003537							
HP:0003538	biolink:PhenotypicFeature	Increased serum iduronate sulfatase level	An increased level of iduronate-2-sulfatase activity in the blood.	UMLS:C2673363|UMLS:C4025599	hp.json	Increased serum iduronate sulfatase	http://purl.obolibrary.org/obo/HP_0003538							
HP:0003540	biolink:PhenotypicFeature	Impaired platelet aggregation	An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.	UMLS:C1855853	hp.json	Defective platelet aggregation|Deficient platelet aggregation|Platelet aggregation defect	http://purl.obolibrary.org/obo/HP_0003540							
HP:0003541	biolink:PhenotypicFeature	Urinary glycosaminoglycan excretion	Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.	UMLS:C4025598	hp.json		http://purl.obolibrary.org/obo/HP_0003541							
HP:0003542	biolink:PhenotypicFeature	Increased serum pyruvate	An increased concentration of pyruvate in the blood.	UMLS:C1849488	hp.json	Increased serum pyruvic acid	http://purl.obolibrary.org/obo/HP_0003542							
HP:0003546	biolink:PhenotypicFeature	Exercise intolerance	A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.	SNOMEDCT_US:267044007|UMLS:C0424551	hp.json	Decreased ability to exercise|Inability to exercise|Low exercise endurance|Poor exercise tolerance	http://purl.obolibrary.org/obo/HP_0003546							
HP:0003547	biolink:PhenotypicFeature	Shoulder girdle muscle weakness	The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.	SNOMEDCT_US:249940002|UMLS:C0427063|UMLS:C0748691	hp.json	Weak shoulder muscles|Muscle weakness, shoulder-girdle|Shoulder girdle weakness|Shoulder weakness	http://purl.obolibrary.org/obo/HP_0003547							
HP:0003548	biolink:PhenotypicFeature	Subsarcolemmal accumulations of abnormally shaped mitochondria	An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.	UMLS:C4025597	hp.json		http://purl.obolibrary.org/obo/HP_0003548							
HP:0003549	biolink:PhenotypicFeature	Abnormality of connective tissue	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).	UMLS:C4025596	hp.json		http://purl.obolibrary.org/obo/HP_0003549							
HP:0003550	biolink:PhenotypicFeature	Predominantly lower limb lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.	UMLS:C1835228	hp.json		http://purl.obolibrary.org/obo/HP_0003550							
HP:0003551	biolink:PhenotypicFeature	Difficulty climbing stairs	Reduced ability to climb stairs.	SNOMEDCT_US:282195009|UMLS:C0239067	hp.json	Difficulty walking up stairs	http://purl.obolibrary.org/obo/HP_0003551							
HP:0003552	biolink:PhenotypicFeature	Muscle stiffness	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.	SNOMEDCT_US:16046003|UMLS:C0221170	hp.json		http://purl.obolibrary.org/obo/HP_0003552							
HP:0003553	biolink:PhenotypicFeature	obsolete Cellulitis due to immunodeficiency			hp.json		http://purl.obolibrary.org/obo/HP_0003553							
HP:0003554	biolink:PhenotypicFeature	Type 2 muscle fiber atrophy	Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.	UMLS:C1864580	hp.json	Type 2 fibre atrophy|Type 2 muscle fibre atrophy|Type 2 fiber atrophy	http://purl.obolibrary.org/obo/HP_0003554							
HP:0003555	biolink:PhenotypicFeature	Muscle fiber splitting	Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.	UMLS:C1836057	hp.json	Fiber splitting|Fibre splitting|Muscle fibre splitting	http://purl.obolibrary.org/obo/HP_0003555							
HP:0003557	biolink:PhenotypicFeature	Increased variability in muscle fiber diameter	An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.	UMLS:C1843700	hp.json	Increased fibre size variation|Increased variability in muscle fibre diameter|Increased variability in muscle fibre size|Increased variation in fibre size|Increased variation in muscle fibre size|Variation in muscle fibre size|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							
HP:0003558	biolink:PhenotypicFeature	Viral infection-induced rhabdomyolysis	Rhabdomyolysis induced by a viral infection.	UMLS:C4025595	hp.json		http://purl.obolibrary.org/obo/HP_0003558							
HP:0003559	biolink:PhenotypicFeature	Muscle hyperirritability		UMLS:C1853701	hp.json		http://purl.obolibrary.org/obo/HP_0003559							
HP:0003560	biolink:PhenotypicFeature	Muscular dystrophy	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.	MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C0026850|UMLS:C1864711	hp.json	Muscle biopsy shows dystrophic changes	http://purl.obolibrary.org/obo/HP_0003560							
HP:0003561	biolink:PhenotypicFeature	Birth length less than 3rd percentile		UMLS:C1855650	hp.json	Birth length < 3rd percentile|Birth length <3rd percentile	http://purl.obolibrary.org/obo/HP_0003561							
HP:0003562	biolink:PhenotypicFeature	Abnormal metaphyseal vascular invasion		UMLS:C3277127	hp.json		http://purl.obolibrary.org/obo/HP_0003562							
HP:0003563	biolink:PhenotypicFeature	Decreased LDL cholesterol concentration	An decreased concentration of low-density lipoprotein cholesterol in the blood.	MSH:D006995|SNOMEDCT_US:190786004|UMLS:C0020597|UMLS:C0853085	hp.json	Decreased LDLc concentration|Decreased LDL|Decreased circulating low-density lipoprotein levels|Hypobetalipoproteinemia	http://purl.obolibrary.org/obo/HP_0003563							
HP:0003564	biolink:PhenotypicFeature	Folate-dependent fragile site at Xq28	The presence of a folate sensitive fragile site at chromosome Xq28.	UMLS:C1839785	hp.json		http://purl.obolibrary.org/obo/HP_0003564							
HP:0003565	biolink:PhenotypicFeature	Elevated erythrocyte sedimentation rate	An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.	SNOMEDCT_US:165468009|UMLS:C0151632	hp.json	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							
HP:0003566	biolink:PhenotypicFeature	Increased serum prostaglandin E2	An increased concentration of prostaglandin E2 in the blood.	UMLS:C3150358	hp.json	Elevated prostaglandin E2	http://purl.obolibrary.org/obo/HP_0003566							
HP:0003568	biolink:PhenotypicFeature	Decreased glucosephosphate isomerase level	A decreased level of glucose-6-phosphate isomerase.	SNOMEDCT_US:124669001|UMLS:C1291611	hp.json	Decreased glucose phosphate isomerase activity|Glucosephosphate isomerase deficiency|Phosphohexose isomerase deficiency	http://purl.obolibrary.org/obo/HP_0003568							
HP:0003570	biolink:PhenotypicFeature	Molybdenum cofactor deficiency	Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.	MSH:C535811|SNOMEDCT_US:29692004|UMLS:C0268119	hp.json		http://purl.obolibrary.org/obo/HP_0003570							
HP:0003571	biolink:PhenotypicFeature	Propionic acidemia	Increased concentration of proprionic acid in the blood circulation.	MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579	hp.json		http://purl.obolibrary.org/obo/HP_0003571							
HP:0003572	biolink:PhenotypicFeature	Low plasma citrulline	A decreased concentration of citrulline in the blood.	UMLS:C1839532	hp.json		http://purl.obolibrary.org/obo/HP_0003572							
HP:0003573	biolink:PhenotypicFeature	Increased total bilirubin	Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.	SNOMEDCT_US:176271000119108|UMLS:C0741494	hp.json	High bili total|Increased bilirubin	http://purl.obolibrary.org/obo/HP_0003573							
HP:0003574	biolink:PhenotypicFeature	Positive regitine blocking test	A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.	UMLS:C4025594	hp.json		http://purl.obolibrary.org/obo/HP_0003574							
HP:0003575	biolink:PhenotypicFeature	Increased intracellular sodium	An abnormally increased sodium concentration in the cytosol.	UMLS:C4025593	hp.json	High intracellular Na|Increased intracellular Na+ levels	http://purl.obolibrary.org/obo/HP_0003575							
HP:0003577	biolink:PhenotypicFeature	Congenital onset	A phenotypic abnormality that is present at birth.	UMLS:C1836142|UMLS:C2752013	hp.json	Symptoms present at birth|Intrauterine onset|Onset at birth|Onset in utero|Prenatal onset	http://purl.obolibrary.org/obo/HP_0003577							
HP:0003581	biolink:PhenotypicFeature	Adult onset	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.	UMLS:C1853562	hp.json	Symptoms begin in adulthood|Onset in adulthood|Onset in early adulthood	http://purl.obolibrary.org/obo/HP_0003581							
HP:0003584	biolink:PhenotypicFeature	Late onset	A type of adult onset with onset of symptoms after the age of 60 years.	UMLS:C4025592	hp.json		http://purl.obolibrary.org/obo/HP_0003584							
HP:0003587	biolink:PhenotypicFeature	Insidious onset	Gradual, very slow onset of disease manifestations.	SNOMEDCT_US:367326009|SNOMEDCT_US:61751001|UMLS:C0332164|UMLS:C1298634	hp.json	Gradual onset	http://purl.obolibrary.org/obo/HP_0003587							
HP:0003593	biolink:PhenotypicFeature	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.	UMLS:C1848924	hp.json	Infantile onset|Onset in first year of life|Onset in infancy	http://purl.obolibrary.org/obo/HP_0003593							
HP:0003596	biolink:PhenotypicFeature	Middle age onset	A type of adult onset with onset of symptoms at the age of 40 to 60 years.	UMLS:C1969363	hp.json		http://purl.obolibrary.org/obo/HP_0003596							
HP:0003606	biolink:PhenotypicFeature	Absent urinary urothione	Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.	UMLS:C4025591	hp.json		http://purl.obolibrary.org/obo/HP_0003606							
HP:0003607	biolink:PhenotypicFeature	4-hydroxyphenylacetic aciduria	Increased concentration of 4-hydroxyphenylacetic acid in the urine.	MSH:C535315|UMLS:C1848680	hp.json		http://purl.obolibrary.org/obo/HP_0003607							
HP:0003609	biolink:PhenotypicFeature	Foam cells with lamellar inclusion bodies	The presence of foam cells that contain lamellar inclusion bodies.	UMLS:C4025590	hp.json		http://purl.obolibrary.org/obo/HP_0003609							
HP:0003610	biolink:PhenotypicFeature	Fibroblast metachromasia	Increased cytoplasmic staining of fibroblasts with toluidine blue.	UMLS:C1835008	hp.json		http://purl.obolibrary.org/obo/HP_0003610							
HP:0003612	biolink:PhenotypicFeature	Positive ferric chloride test	If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.	UMLS:C4025589	hp.json	Positive FeCl3 test	http://purl.obolibrary.org/obo/HP_0003612							
HP:0003613	biolink:PhenotypicFeature	Antiphospholipid antibody positivity	The presence of circulating autoantibodies to phospholipids.	UMLS:C4019436	hp.json	Antiphospholipid antibodies|Antiphospholipid antibody|Phospholipid antibody positivity	http://purl.obolibrary.org/obo/HP_0003613							
HP:0003614	biolink:PhenotypicFeature	Trimethylaminuria	Increased concentration of trimethylamine in the urine.	MSH:C536561|SNOMEDCT_US:237959005|UMLS:C0342739	hp.json	High urine trimethylamine levels	http://purl.obolibrary.org/obo/HP_0003614							
HP:0003616	biolink:PhenotypicFeature	Premature separation of centromeric heterochromatin		UMLS:C1849316	hp.json		http://purl.obolibrary.org/obo/HP_0003616							
HP:0003621	biolink:PhenotypicFeature	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.	UMLS:C4025588	hp.json	Signs and symptoms begin before 15 years of age	http://purl.obolibrary.org/obo/HP_0003621							
HP:0003623	biolink:PhenotypicFeature	Neonatal onset	Onset of signs or symptoms of disease within the first 28 days of life.	UMLS:C1855106	hp.json	Neonatal onset|Onset in first weeks of life|Onset in neonatal period	http://purl.obolibrary.org/obo/HP_0003623							
HP:0003634	biolink:PhenotypicFeature	Amyoplasia	Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.	SNOMEDCT_US:205532005|UMLS:C0432185	hp.json	Absent muscles since birth|Congenital absence of muscles	http://purl.obolibrary.org/obo/HP_0003634							
HP:0003635	biolink:PhenotypicFeature	Loss of subcutaneous adipose tissue in limbs	Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.	UMLS:C1837764	hp.json	Loss of fat tissue below the skin in limbs|Loss of subcutaneous adipose tissue from extremities	http://purl.obolibrary.org/obo/HP_0003635							hposlim_core
HP:0003637	biolink:PhenotypicFeature	Reduced 4-Hydroxyphenylpyruvate dioxygenase level	An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.	UMLS:C4025587	hp.json	Reducted HPPD activity	http://purl.obolibrary.org/obo/HP_0003637							
HP:0003639	biolink:PhenotypicFeature	Elevated urinary epinephrine	An increased concentration of adrenaline in the urine.	UMLS:C1868393	hp.json	Increased urinary epinephrine	http://purl.obolibrary.org/obo/HP_0003639							
HP:0003640	biolink:PhenotypicFeature	Foam cells in visceral organs and CNS		UMLS:C1843373	hp.json		http://purl.obolibrary.org/obo/HP_0003640							
HP:0003641	biolink:PhenotypicFeature	Hemoglobinuria	The presence of free hemoglobin in the urine.	MSH:D006456|SNOMEDCT_US:68600005|UMLS:C0019048	hp.json	Hemoglobin in urine|Haemoglobin in urine	http://purl.obolibrary.org/obo/HP_0003641							
HP:0003642	biolink:PhenotypicFeature	Type I transferrin isoform profile	Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.	UMLS:C1837899	hp.json	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							
HP:0003643	biolink:PhenotypicFeature	Sulfite oxidase deficiency	Abnormally reduced sulfite oxidase level.	MSH:C538141|SNOMEDCT_US:367368009|UMLS:C0268624	hp.json		http://purl.obolibrary.org/obo/HP_0003643							
HP:0003645	biolink:PhenotypicFeature	Prolonged partial thromboplastin time	Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.	SNOMEDCT_US:409675001|UMLS:C0240671	hp.json	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							
HP:0003646	biolink:PhenotypicFeature	Bicarbonaturia	Abnormally increased concentration of hydrogencarbonate in the urine.	UMLS:C1839865	hp.json	Increased urine bicarbonate concentration|Increased urine HCO3 concentration	http://purl.obolibrary.org/obo/HP_0003646							
HP:0003647	biolink:PhenotypicFeature	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.	UMLS:C4025586	hp.json		http://purl.obolibrary.org/obo/HP_0003647							
HP:0003648	biolink:PhenotypicFeature	Lacticaciduria	An increased concentration of lactic acid in the urine.	UMLS:C4025585	hp.json	High urine lactic acid levels|Increased urine lactate	http://purl.obolibrary.org/obo/HP_0003648							
HP:0003649	biolink:PhenotypicFeature	Abnormality of glycoside metabolism	Abnormality of glycoside metabolism.	UMLS:C4025584	hp.json		http://purl.obolibrary.org/obo/HP_0003649							
HP:0003651	biolink:PhenotypicFeature	Foam cells	The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.	MSH:D005487|SNOMEDCT_US:16980002|UMLS:C0016390	hp.json	Foamy histiocytes|Foamy macrophages|Lipid-laden histiocytes|Presence of foam cells	http://purl.obolibrary.org/obo/HP_0003651							
HP:0003652	biolink:PhenotypicFeature	Recurrent myoglobinuria	Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.	MSH:C564018|UMLS:C1838877	hp.json	Myoglobinuria, episodic|Myoglobinuria, recurrent	http://purl.obolibrary.org/obo/HP_0003652							
HP:0003653	biolink:PhenotypicFeature	Cellular metachromasia	Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.	UMLS:C4025583	hp.json		http://purl.obolibrary.org/obo/HP_0003653							
HP:0003654	biolink:PhenotypicFeature	Reduced dihydropyrimidine dehydrogenase level	An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.	MSH:D054067|SNOMEDCT_US:77365006|UMLS:C1959620|UMLS:C4025582	hp.json	Dihydropyrimidine dehydrogenase deficiency	http://purl.obolibrary.org/obo/HP_0003654							
HP:0003655	biolink:PhenotypicFeature	Reduced level of N-acetylglucosaminyltransferase II	An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.	UMLS:C4021725	hp.json	Deficient N-acetylglucosaminyltransferase II	http://purl.obolibrary.org/obo/HP_0003655							
HP:0003656	biolink:PhenotypicFeature	Decreased beta-glucocerebrosidase level	Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.	UMLS:C1842710	hp.json	Decreased lysosomal acid glucosylceramidase activity	http://purl.obolibrary.org/obo/HP_0003656							
HP:0003657	biolink:PhenotypicFeature	Granular osmiophilic deposits (GROD) in cells		UMLS:C1859833	hp.json		http://purl.obolibrary.org/obo/HP_0003657							
HP:0003658	biolink:PhenotypicFeature	Hypomethioninemia	A decreased concentration of methionine in the blood.	UMLS:C1848555	hp.json	Decreased plasma methionine|Decreased serum methionine	http://purl.obolibrary.org/obo/HP_0003658							
HP:0003665	biolink:PhenotypicFeature	Amyotrophy of the musculature of the pelvis	Muscular atrophy affecting the muscles of the pelvis.	UMLS:C4025581	hp.json		http://purl.obolibrary.org/obo/HP_0003665							
HP:0003674	biolink:PhenotypicFeature	Onset	The age group in which disease manifestations appear.	MSH:D017668|UMLS:C0206132	hp.json	Age symptoms begin|Age of onset	http://purl.obolibrary.org/obo/HP_0003674							
HP:0003676	biolink:PhenotypicFeature	Progressive	Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.	SNOMEDCT_US:252157006|SNOMEDCT_US:255314001|UMLS:C0205329|UMLS:C1864985	hp.json	Worsens with time|Progressive disorder	http://purl.obolibrary.org/obo/HP_0003676							
HP:0003677	biolink:PhenotypicFeature	Slowly progressive	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.	UMLS:C1854494	hp.json	Signs and symptoms worsen slowly with time|Slow disease progression|Slow progression|Slowly progressive disorder	http://purl.obolibrary.org/obo/HP_0003677							
HP:0003678	biolink:PhenotypicFeature	Rapidly progressive	Applies to a disease manifestation that quickly increases in scope or severity over the course of time.	UMLS:C1838681|UMLS:C1850776	hp.json	Worsening quickly|Rapid progression|Rapidly progressive disorder	http://purl.obolibrary.org/obo/HP_0003678							
HP:0003679	biolink:PhenotypicFeature	Pace of progression		UMLS:C4025580	hp.json		http://purl.obolibrary.org/obo/HP_0003679							
HP:0003680	biolink:PhenotypicFeature	Nonprogressive	Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.	SNOMEDCT_US:702322003|UMLS:C3839460	hp.json	Does not worsen|Non-progressive|Nonprogressive course|Nonprogressive disorder|Stationary	http://purl.obolibrary.org/obo/HP_0003680							
HP:0003682	biolink:PhenotypicFeature	Variable progression rate	Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.	UMLS:C1970284	hp.json		http://purl.obolibrary.org/obo/HP_0003682							
HP:0003683	biolink:PhenotypicFeature	Large beaked nose		UMLS:C4025579	hp.json	Large beaked nose	http://purl.obolibrary.org/obo/HP_0003683							
HP:0003687	biolink:PhenotypicFeature	Centrally nucleated skeletal muscle fibers	An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).	UMLS:C1842170	hp.json	Centralised nuclei|Centralised sarcomeric nuclei|Centrally nucleated skeletal muscle fibres|Central nuclei|Centralized nuclei|Centralized sarcomeric nuclei	http://purl.obolibrary.org/obo/HP_0003687							
HP:0003688	biolink:PhenotypicFeature	Cytochrome C oxidase-negative muscle fibers	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.	UMLS:C4021724	hp.json	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							
HP:0003689	biolink:PhenotypicFeature	Multiple mitochondrial DNA deletions	The presence of multiple deletions of mitochondrial DNA (mtDNA).	UMLS:C3277376	hp.json	Multiple mtDNA deletions	http://purl.obolibrary.org/obo/HP_0003689							
HP:0003690	biolink:PhenotypicFeature	Limb muscle weakness	Reduced strength and weakness of the muscles of the arms and legs.	SNOMEDCT_US:713514005|UMLS:C0587246	hp.json	Limb muscle weakness|Limb weakness	http://purl.obolibrary.org/obo/HP_0003690							
HP:0003691	biolink:PhenotypicFeature	Scapular winging	Abnormal protrusion of the scapula away from the surface of the back.	MEDDRA:10067628|SNOMEDCT_US:17211005|UMLS:C0240953|UMLS:C4072849	hp.json	Winged shoulder blade|Scapula alata|Winged scapulae|Winged scapulas|Scapular weakness	http://purl.obolibrary.org/obo/HP_0003691							hposlim_core
HP:0003693	biolink:PhenotypicFeature	Distal amyotrophy	Muscular atrophy affecting muscles in the distal portions of the extremities.	UMLS:C1848736	hp.json	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							
HP:0003694	biolink:PhenotypicFeature	Late-onset proximal muscle weakness	Lack of strength of the proximal musculature occurring late in the clinical course.	UMLS:C4025578	hp.json		http://purl.obolibrary.org/obo/HP_0003694							
HP:0003696	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 5th finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.	UMLS:C4025577	hp.json	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							
HP:0003697	biolink:PhenotypicFeature	Scapuloperoneal amyotrophy	Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.	UMLS:C1842162	hp.json	Scapuloperoneal atrophy	http://purl.obolibrary.org/obo/HP_0003697							
HP:0003698	biolink:PhenotypicFeature	Difficulty standing		SNOMEDCT_US:249902000|UMLS:C0241237	hp.json	Difficulty in standing|Standing instability	http://purl.obolibrary.org/obo/HP_0003698							
HP:0003700	biolink:PhenotypicFeature	Generalized amyotrophy	Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.	UMLS:C1389113	hp.json	Diffuse skeletal muscle wasting|Generalized muscle degeneration|Muscle atrophy, generalized|Generalised amyotrophy|Generalised muscle atrophy|Generalised muscle degeneration|Muscle atrophy, generalised|Muscular atrophy, generalised|Diffuse amyotrophy|Diffuse muscle atrophy|Diffuse muscle wasting|Generalized muscle atrophy|Muscle atrophy, diffuse|Muscular atrophy, generalized	http://purl.obolibrary.org/obo/HP_0003700							
HP:0003701	biolink:PhenotypicFeature	Proximal muscle weakness	A lack of strength of the proximal muscles.	SNOMEDCT_US:249939004|UMLS:C0221629|UMLS:C1838869	hp.json	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							
HP:0003704	biolink:PhenotypicFeature	Scapuloperoneal weakness		UMLS:C1842161	hp.json	Neurogenic scapuloperoneal syndrome	http://purl.obolibrary.org/obo/HP_0003704							
HP:0003707	biolink:PhenotypicFeature	Calf muscle pseudohypertrophy	Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.	UMLS:C1839666	hp.json	Pseudohypertrophy of the calves	http://purl.obolibrary.org/obo/HP_0003707							
HP:0003710	biolink:PhenotypicFeature	Exercise-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by physical exertion.	UMLS:C1855578	hp.json	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							
HP:0003712	biolink:PhenotypicFeature	Skeletal muscle hypertrophy	Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).	UMLS:C2265792	hp.json	Increased skeletal muscle cells|Hypertrophic muscles|Muscle hypertrophy|Muscular hypertrophy	http://purl.obolibrary.org/obo/HP_0003712							
HP:0003713	biolink:PhenotypicFeature	Muscle fiber necrosis	Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.	UMLS:C1850848	hp.json	Muscle fibre necrosis	http://purl.obolibrary.org/obo/HP_0003713							
HP:0003715	biolink:PhenotypicFeature	Myofibrillar myopathy	Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.	MSH:C580316|SNOMEDCT_US:699269005|UMLS:C2678065	hp.json	Myofibrillar changes	http://purl.obolibrary.org/obo/HP_0003715							
HP:0003716	biolink:PhenotypicFeature	Generalized muscular appearance from birth		UMLS:C1837799	hp.json	Generalised muscular appearance from birth	http://purl.obolibrary.org/obo/HP_0003716							
HP:0003717	biolink:PhenotypicFeature	Minimal subcutaneous fat		UMLS:C1859442	hp.json	Minimal fat below the skin	http://purl.obolibrary.org/obo/HP_0003717							
HP:0003719	biolink:PhenotypicFeature	Muscle mounding		UMLS:C1853702	hp.json		http://purl.obolibrary.org/obo/HP_0003719							
HP:0003720	biolink:PhenotypicFeature	Generalized muscle hypertrophy	Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.	UMLS:C3805639	hp.json	Generalized increase in muscle cell size|Generalised increase in muscle cell size|Generalised muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0003720							
HP:0003722	biolink:PhenotypicFeature	Neck flexor weakness	Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).	UMLS:C1843637	hp.json	Neck flexion weakness|Neck flexor muscle weakness	http://purl.obolibrary.org/obo/HP_0003722							
HP:0003724	biolink:PhenotypicFeature	Shoulder girdle muscle atrophy	Amyotrophy affecting the muscles of the shoulder girdle.	UMLS:C1847766	hp.json	Shoulder girdle muscle wasting|Shoulder-girdle muscle atrophy|Shoulder girdle atrophy	http://purl.obolibrary.org/obo/HP_0003724							
HP:0003725	biolink:PhenotypicFeature	Firm muscles		UMLS:C1850656	hp.json		http://purl.obolibrary.org/obo/HP_0003725							
HP:0003729	biolink:PhenotypicFeature	Enteroviral dermatomyositis syndrome		UMLS:C3806660	hp.json		http://purl.obolibrary.org/obo/HP_0003729							
HP:0003730	biolink:PhenotypicFeature	EMG: myotonic runs	Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).	UMLS:C4020837|UMLS:C4025576	hp.json	EMG: spontaneous, repetitive electrical activity	http://purl.obolibrary.org/obo/HP_0003730							
HP:0003731	biolink:PhenotypicFeature	Quadriceps muscle weakness	Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).	SNOMEDCT_US:300948004|UMLS:C0577655	hp.json	Quadriceps weakness	http://purl.obolibrary.org/obo/HP_0003731							
HP:0003733	biolink:PhenotypicFeature	Thigh hypertrophy	Muscle hypertrophy affecting the thighs.	UMLS:C1846674	hp.json	Increased thigh size	http://purl.obolibrary.org/obo/HP_0003733							
HP:0003736	biolink:PhenotypicFeature	Autophagic vacuoles	The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.	UMLS:C0544966	hp.json		http://purl.obolibrary.org/obo/HP_0003736							
HP:0003737	biolink:PhenotypicFeature	Mitochondrial myopathy	A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.	MSH:D017240|SNOMEDCT_US:16851005|UMLS:C0162670	hp.json		http://purl.obolibrary.org/obo/HP_0003737							
HP:0003738	biolink:PhenotypicFeature	Exercise-induced myalgia	The occurrence of an unusually high amount of muscle pain following exercise.	UMLS:C1850830	hp.json	Exercise-induced muscle pain|Muscle pain on exercise|Muscle pain with exercise|Muscle pain, exercise-induced	http://purl.obolibrary.org/obo/HP_0003738							
HP:0003739	biolink:PhenotypicFeature	Myoclonic spasms		UMLS:C3806442	hp.json		http://purl.obolibrary.org/obo/HP_0003739							
HP:0003740	biolink:PhenotypicFeature	Myotonia with warm-up phenomenon	Myotonia that occurs after a period of rest and decreases with continuing exercise.	UMLS:C4025575	hp.json		http://purl.obolibrary.org/obo/HP_0003740							
HP:0003741	biolink:PhenotypicFeature	Congenital muscular dystrophy		SNOMEDCT_US:240059009|UMLS:C0699743	hp.json	Muscular dystrophy, congenital	http://purl.obolibrary.org/obo/HP_0003741							
HP:0003743	biolink:PhenotypicFeature	Genetic anticipation	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.	MSH:D020132|UMLS:C0600498	hp.json		http://purl.obolibrary.org/obo/HP_0003743							
HP:0003744	biolink:PhenotypicFeature	Genetic anticipation with paternal anticipation bias	A type of genetic anticipation observed predominantly upon transmission from affected males.	UMLS:C1834002|UMLS:C4025574	hp.json	Paternal anticipation bias	http://purl.obolibrary.org/obo/HP_0003744							
HP:0003745	biolink:PhenotypicFeature	Sporadic	Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.	UMLS:C1853237	hp.json	No previous family history|Isolated cases	http://purl.obolibrary.org/obo/HP_0003745							
HP:0003749	biolink:PhenotypicFeature	Pelvic girdle muscle weakness	Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.	SNOMEDCT_US:249941003|UMLS:C0427064	hp.json	Hip girdle muscle weakness|Hip girdle weakness|Hip-girdle muscle weakness|Pelvic girdle weakness	http://purl.obolibrary.org/obo/HP_0003749							
HP:0003750	biolink:PhenotypicFeature	Increased muscle fatiguability	An abnormal, increased fatiguability of the musculature.	MSH:D018763|SNOMEDCT_US:80449002|UMLS:C0242979|UMLS:C4025573	hp.json	Muscle fatigue	http://purl.obolibrary.org/obo/HP_0003750							
HP:0003752	biolink:PhenotypicFeature	Episodic flaccid weakness	Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.	UMLS:C4025572	hp.json		http://purl.obolibrary.org/obo/HP_0003752							
HP:0003755	biolink:PhenotypicFeature	Type 1 fibers relatively smaller than type 2 fibers	The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.	UMLS:C4025571	hp.json	Type 1 fibres relatively smaller than type 2 fibres	http://purl.obolibrary.org/obo/HP_0003755							
HP:0003756	biolink:PhenotypicFeature	Skeletal myopathy		SNOMEDCT_US:75047002|UMLS:C1533847	hp.json		http://purl.obolibrary.org/obo/HP_0003756							
HP:0003758	biolink:PhenotypicFeature	Reduced subcutaneous adipose tissue	A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.	SNOMEDCT_US:248316006|UMLS:C0424631|UMLS:C1857657	hp.json	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							
HP:0003759	biolink:PhenotypicFeature	Hypoplasia of lymphatic vessels	Congenital underdevelopment of lymph vessels.	UMLS:C4025570	hp.json	Underdeveloped lymphatic vessels	http://purl.obolibrary.org/obo/HP_0003759							
HP:0003760	biolink:PhenotypicFeature	Percussion-induced rapid rolling muscle contractions	Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.	UMLS:C4280804	hp.json		http://purl.obolibrary.org/obo/HP_0003760							
HP:0003761	biolink:PhenotypicFeature	Calcinosis	Formation of calcium deposits in any soft tissue.	MSH:D002114|SNOMEDCT_US:6595006|UMLS:C0006663	hp.json	Calcium buildup in soft tissues of body	http://purl.obolibrary.org/obo/HP_0003761							
HP:0003762	biolink:PhenotypicFeature	Uterus didelphys	A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.	SNOMEDCT_US:15545001|SNOMEDCT_US:22504001|UMLS:C0152240|UMLS:C0266393	hp.json	Double uterus	http://purl.obolibrary.org/obo/HP_0003762							
HP:0003763	biolink:PhenotypicFeature	Bruxism	Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.	MSH:D002012|SNOMEDCT_US:191983006|SNOMEDCT_US:90207007|UMLS:C0006325	hp.json	Teeth grinding	http://purl.obolibrary.org/obo/HP_0003763							
HP:0003764	biolink:PhenotypicFeature	Nevus	A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.	MSH:D009506|MSH:D009508|SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|SNOMEDCT_US:51697005|UMLS:C0027960|UMLS:C0027962	hp.json	Mole|Naevus|Naevi|Nevi	http://purl.obolibrary.org/obo/HP_0003764							
HP:0003765	biolink:PhenotypicFeature	Psoriasiform dermatitis	A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).	MSH:D011565|SNOMEDCT_US:9014002|UMLS:C0033860	hp.json	Psoriasis	http://purl.obolibrary.org/obo/HP_0003765							
HP:0003768	biolink:PhenotypicFeature	Periodic paralysis	Episodes of muscle weakness.	SNOMEDCT_US:198030008|UMLS:C1279412	hp.json	Episodic paralysis	http://purl.obolibrary.org/obo/HP_0003768							
HP:0003771	biolink:PhenotypicFeature	Pulp calcification	Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.	MSH:D003784|SNOMEDCT_US:57602001|UMLS:C1527284|UMLS:C4280259|UMLS:C4280546	hp.json	Pulp stones|Pulp calcifications|Pulp denticles|Pulpoliths|False denticles|False pulp stones|True denticles|True pulp stones	http://purl.obolibrary.org/obo/HP_0003771							
HP:0003774	biolink:PhenotypicFeature	Stage 5 chronic kidney disease	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.	SNOMEDCT_US:433146000|UMLS:C2316810	hp.json	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							
HP:0003777	biolink:PhenotypicFeature	Pili torti	Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.	MSH:C562485|SNOMEDCT_US:17170005|UMLS:C0263491	hp.json	Flattened and twisted hair	http://purl.obolibrary.org/obo/HP_0003777							hposlim_core
HP:0003778	biolink:PhenotypicFeature	Short mandibular rami		UMLS:C1841648|UMLS:C4280545	hp.json	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	biolink:PhenotypicFeature	Antegonial notching of mandible		UMLS:C1844509	hp.json	Deep antegonial notch of mandible|Large antegonial notch of mandible	http://purl.obolibrary.org/obo/HP_0003779							
HP:0003781	biolink:PhenotypicFeature	Excessive salivation	Excessive production of saliva.	MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|UMLS:C0013132|UMLS:C0037036	hp.json	Excessive salivation|Mouth watering|Oversalivation|Watery mouth|Excessive production of saliva|Hypersalivation|Ptyalism	http://purl.obolibrary.org/obo/HP_0003781							
HP:0003782	biolink:PhenotypicFeature	Eunuchoid habitus	A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).	UMLS:C4025569	hp.json		http://purl.obolibrary.org/obo/HP_0003782							
HP:0003783	biolink:PhenotypicFeature	Externally rotated/abducted legs		UMLS:C1970461	hp.json		http://purl.obolibrary.org/obo/HP_0003783							
HP:0003784	biolink:PhenotypicFeature	Type 1 collagen overmodification		UMLS:C1970463	hp.json		http://purl.obolibrary.org/obo/HP_0003784							
HP:0003785	biolink:PhenotypicFeature	Decreased CSF homovanillic acid	Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.	UMLS:C4280803	hp.json		http://purl.obolibrary.org/obo/HP_0003785							
HP:0003787	biolink:PhenotypicFeature	Type 1 and type 2 muscle fiber minicore regions	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.	UMLS:C4025568	hp.json	Type 1 and type 2 muscle fibre minicore regions	http://purl.obolibrary.org/obo/HP_0003787							
HP:0003789	biolink:PhenotypicFeature	Minicore myopathy	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.	MSH:C564969|UMLS:C1850674	hp.json		http://purl.obolibrary.org/obo/HP_0003789							
HP:0003791	biolink:PhenotypicFeature	Deposits immunoreactive to beta-amyloid protein		UMLS:C1853934	hp.json		http://purl.obolibrary.org/obo/HP_0003791							
HP:0003795	biolink:PhenotypicFeature	Short middle phalanx of toe	Developmental hypoplasia (shortening) of middle phalanx of toe.	UMLS:C4021723	hp.json	Short middle bones (feet)|Short middle phalanges of toes	http://purl.obolibrary.org/obo/HP_0003795							
HP:0003796	biolink:PhenotypicFeature	Irregular iliac crest	Irregularity of the iliac crest, which is the superior border of the wing of the ilium.	UMLS:C1855180	hp.json		http://purl.obolibrary.org/obo/HP_0003796							
HP:0003797	biolink:PhenotypicFeature	Limb-girdle muscle atrophy	Muscular atrophy affecting the muscles of the limb girdle.	UMLS:C1404521|UMLS:C1842552	hp.json	Wasting of limb-girdle muscle|Limb-girdle myopathy	http://purl.obolibrary.org/obo/HP_0003797							
HP:0003798	biolink:PhenotypicFeature	Nemaline bodies	Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.	UMLS:C3808039	hp.json	Nemaline rods	http://purl.obolibrary.org/obo/HP_0003798							
HP:0003799	biolink:PhenotypicFeature	Marked delay in bone age		UMLS:C1868549	hp.json	Marked delay in bone age|Markedly retarded bone age|Marked retardation in skeletal maturation	http://purl.obolibrary.org/obo/HP_0003799							
HP:0003800	biolink:PhenotypicFeature	Muscle abnormality related to mitochondrial dysfunction		UMLS:C4025566	hp.json		http://purl.obolibrary.org/obo/HP_0003800							
HP:0003803	biolink:PhenotypicFeature	Type 1 muscle fiber predominance	An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).	UMLS:C1854387	hp.json	Type 1 muscle fibre predominance|Type I muscle fibre predominance|Type I muscle fiber predominance	http://purl.obolibrary.org/obo/HP_0003803							
HP:0003805	biolink:PhenotypicFeature	Rimmed vacuoles	Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.	UMLS:C1853932	hp.json	'rimmed vacuoles' on biopsy|'rimmed' vacuoles on biopsy	http://purl.obolibrary.org/obo/HP_0003805							
HP:0003808	biolink:PhenotypicFeature	Abnormal muscle tone		UMLS:C0852413	hp.json	Abnormal muscle tone	http://purl.obolibrary.org/obo/HP_0003808							
HP:0003809	biolink:PhenotypicFeature	Reduced intrathoracic adipose tissue	An abnormally reduced amount of adipose tissue in the thoracic cavity.	UMLS:C1837797	hp.json		http://purl.obolibrary.org/obo/HP_0003809							
HP:0003810	biolink:PhenotypicFeature	Late-onset distal muscle weakness		UMLS:C4025565	hp.json		http://purl.obolibrary.org/obo/HP_0003810							
HP:0003811	biolink:PhenotypicFeature	Neonatal death	Death within the first 28 days of life.	MSH:D066087|SNOMEDCT_US:276506001|UMLS:C0410916	hp.json	Neonatal lethal	http://purl.obolibrary.org/obo/HP_0003811							
HP:0003812	biolink:PhenotypicFeature	Phenotypic variability	A variability of phenotypic features.	UMLS:C1837514|UMLS:C1839039|UMLS:C1850667|UMLS:C1866210	hp.json	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							
HP:0003819	biolink:PhenotypicFeature	Death in childhood	Death in during childhood, defined here as between the ages of 2 and 10 years.	UMLS:C1843392	hp.json	Death in childhood	http://purl.obolibrary.org/obo/HP_0003819							
HP:0003826	biolink:PhenotypicFeature	Stillbirth	Death of the fetus in utero after at least 20 weeks of gestation.	MSH:D005313|MSH:D050497|SNOMEDCT_US:237364002|SNOMEDCT_US:276507005|UMLS:C0015927|UMLS:C0595939	hp.json	Stillbirth|Stillborn|Fetal death|Foetal death	http://purl.obolibrary.org/obo/HP_0003826							
HP:0003828	biolink:PhenotypicFeature	Variable expressivity	A variable severity of phenotypic features.	UMLS:C1861403|UMLS:C1866862	hp.json	Variable severity|Highly variable severity	http://purl.obolibrary.org/obo/HP_0003828							
HP:0003829	biolink:PhenotypicFeature	Incomplete penetrance	A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.	UMLS:C1836598	hp.json	Reduced penetrance	http://purl.obolibrary.org/obo/HP_0003829							
HP:0003831	biolink:PhenotypicFeature	Age-dependent penetrance	A situation in which phenotypic abnormalities become evident with age.	UMLS:C1835978	hp.json	Age dependent penetrance	http://purl.obolibrary.org/obo/HP_0003831							
HP:0003832	biolink:PhenotypicFeature	Abnormality of the tibial plateaux		UMLS:C4025564	hp.json		http://purl.obolibrary.org/obo/HP_0003832							
HP:0003833	biolink:PhenotypicFeature	Laterally deficient tibial plateaux		UMLS:C4025563	hp.json		http://purl.obolibrary.org/obo/HP_0003833							
HP:0003834	biolink:PhenotypicFeature	Shoulder dislocation	A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.	MSH:D012783|SNOMEDCT_US:125615005|SNOMEDCT_US:417076003|UMLS:C0037005	hp.json	Shoulder dislocation	http://purl.obolibrary.org/obo/HP_0003834							
HP:0003835	biolink:PhenotypicFeature	Shoulder subluxation	A partial dislocation of the shoulder joint.	SNOMEDCT_US:263051004|UMLS:C0434744	hp.json	Partial shoulder dislocation	http://purl.obolibrary.org/obo/HP_0003835							
HP:0003836	biolink:PhenotypicFeature	Stippled calcification of the shoulder		UMLS:C4025562	hp.json		http://purl.obolibrary.org/obo/HP_0003836							
HP:0003837	biolink:PhenotypicFeature	Soft-tissue ossification around the shoulders	Formation of calcified tissue in the soft tissues surrounding the shoulder.	UMLS:C4025561	hp.json	Calcification of the soft-tissue around the shoulders	http://purl.obolibrary.org/obo/HP_0003837							
HP:0003839	biolink:PhenotypicFeature	Abnormality of upper limb epiphysis morphology		UMLS:C4021722	hp.json	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	biolink:PhenotypicFeature	Delayed upper limb epiphyseal ossification	A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.	UMLS:C4025560|UMLS:C4280544	hp.json	Delayed maturation fo the end part of the upper limb bone	http://purl.obolibrary.org/obo/HP_0003840							
HP:0003841	biolink:PhenotypicFeature	Fragmented epiphyses of the upper limbs		UMLS:C4025559	hp.json	Fragmented end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003841							
HP:0003842	biolink:PhenotypicFeature	Irregular epiphyses of the upper limbs		UMLS:C4025558	hp.json	Irregular end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003842							
HP:0003843	biolink:PhenotypicFeature	Round epiphyses of the upper limbs		UMLS:C4025557	hp.json	Round end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003843							
HP:0003844	biolink:PhenotypicFeature	Small epiphyses of the upper limbs		UMLS:C4025556	hp.json	Small end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003844							
HP:0003846	biolink:PhenotypicFeature	Wide epiphyseal plates of the upper limbs		UMLS:C4020913	hp.json	Broad growth plates of upper limbs|Broad epiphyseal plates of the upper limbs	http://purl.obolibrary.org/obo/HP_0003846							
HP:0003848	biolink:PhenotypicFeature	Cupped metaphyses of the upper limbs		UMLS:C4025555	hp.json	Cupped wide portion of the upper limb bone	http://purl.obolibrary.org/obo/HP_0003848							
HP:0003849	biolink:PhenotypicFeature	Flared upper limb metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.	UMLS:C4021721	hp.json	Flared wide portion of the upper limb bone|Flared metaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003849							
HP:0003850	biolink:PhenotypicFeature	Upper-limb metaphyseal irregularity		UMLS:C4021720	hp.json	Irregular wide portion of upper limb bones|Irregular metaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003850							
HP:0003851	biolink:PhenotypicFeature	Lytic defects in metaphyses of the upper limbs		UMLS:C4025554	hp.json		http://purl.obolibrary.org/obo/HP_0003851							
HP:0003852	biolink:PhenotypicFeature	Normal density transverse bands in metaphyses of the upper limbs		UMLS:C4025553	hp.json		http://purl.obolibrary.org/obo/HP_0003852							
HP:0003853	biolink:PhenotypicFeature	Sclerosis with transverse striations in metaphyses of the upper limbs		UMLS:C4025552	hp.json		http://purl.obolibrary.org/obo/HP_0003853							
HP:0003854	biolink:PhenotypicFeature	Sclerosis of metaphyses of the upper limbs		UMLS:C4025551	hp.json	Increased bone density in wide portion of the upper limb bones	http://purl.obolibrary.org/obo/HP_0003854							
HP:0003855	biolink:PhenotypicFeature	Spurred metaphyses of the upper limbs		UMLS:C4025550	hp.json	Spurred wide portion of upper limb bone	http://purl.obolibrary.org/obo/HP_0003855							
HP:0003856	biolink:PhenotypicFeature	Upper limb metaphyseal widening	Increased width (breadth) of metaphyses of the arms.	UMLS:C4021719	hp.json	Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003856							
HP:0003858	biolink:PhenotypicFeature	Cortical diaphyseal irregularity of the upper limbs		UMLS:C4025549	hp.json		http://purl.obolibrary.org/obo/HP_0003858							
HP:0003859	biolink:PhenotypicFeature	Cortical diaphyseal thickening of the upper limbs		UMLS:C4025548	hp.json		http://purl.obolibrary.org/obo/HP_0003859							
HP:0003860	biolink:PhenotypicFeature	Diaphyseal sclerosis of the upper limbs	An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4025547	hp.json	Increased bone density in central part of long bone of upper limbs	http://purl.obolibrary.org/obo/HP_0003860							
HP:0003861	biolink:PhenotypicFeature	Broad diaphyses of the upper limbs		UMLS:C4021718	hp.json	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	biolink:PhenotypicFeature	Absent humerus	Missing humerus bone associated with congenital failure of development.	UMLS:C2678399	hp.json	Absent long bone in upper arm|Aplasia of the humerus|Aplastic humerus	http://purl.obolibrary.org/obo/HP_0003862							hposlim_core
HP:0003863	biolink:PhenotypicFeature	Angulated humerus		UMLS:C4025546	hp.json	Angulated long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003863							
HP:0003864	biolink:PhenotypicFeature	Bifid humerus	Clefting affecting the humerus.	UMLS:C4025545	hp.json	Notched long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003864							
HP:0003865	biolink:PhenotypicFeature	Bowed humerus	A bending or abnormal curvature of the humerus.	UMLS:C1859460	hp.json	Bowed long bone in upper arm|Bowing of the humerus|Humeral bowing	http://purl.obolibrary.org/obo/HP_0003865							hposlim_core
HP:0003866	biolink:PhenotypicFeature	Coarse humeral trabeculae		UMLS:C4025544	hp.json		http://purl.obolibrary.org/obo/HP_0003866							
HP:0003867	biolink:PhenotypicFeature	Humeral cortical irregularity		UMLS:C4025543	hp.json		http://purl.obolibrary.org/obo/HP_0003867							
HP:0003868	biolink:PhenotypicFeature	Humeral cortical thickening		UMLS:C4025542	hp.json		http://purl.obolibrary.org/obo/HP_0003868							
HP:0003869	biolink:PhenotypicFeature	Humeral cortical thinning		UMLS:C4025541	hp.json		http://purl.obolibrary.org/obo/HP_0003869							
HP:0003870	biolink:PhenotypicFeature	Crumpled humerus		UMLS:C4025540	hp.json	Crumpled long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003870							
HP:0003871	biolink:PhenotypicFeature	Deformed humerus		UMLS:C4025539	hp.json	Deformed long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003871							
HP:0003872	biolink:PhenotypicFeature	Humeral exostoses	Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.	UMLS:C4025538	hp.json		http://purl.obolibrary.org/obo/HP_0003872							
HP:0003874	biolink:PhenotypicFeature	Humerus varus		UMLS:C4025537	hp.json		http://purl.obolibrary.org/obo/HP_0003874							hposlim_core
HP:0003875	biolink:PhenotypicFeature	Humeral lytic defects	Destruction of an area of humerus bone due to a disease process, such as cancer.	UMLS:C4025536	hp.json	Lytic defects of the humerus	http://purl.obolibrary.org/obo/HP_0003875							
HP:0003876	biolink:PhenotypicFeature	Osteoporotic humerus		UMLS:C4025535	hp.json		http://purl.obolibrary.org/obo/HP_0003876							
HP:0003877	biolink:PhenotypicFeature	Oval transradiancy of humerus		UMLS:C4025534	hp.json	Humeral oval transradiancy	http://purl.obolibrary.org/obo/HP_0003877							
HP:0003878	biolink:PhenotypicFeature	Periosteal new bone of humerus		UMLS:C4025533	hp.json		http://purl.obolibrary.org/obo/HP_0003878							
HP:0003879	biolink:PhenotypicFeature	Humeral pseudarthrosis		UMLS:C4025532	hp.json	False joint (long bone in upper arm)	http://purl.obolibrary.org/obo/HP_0003879							
HP:0003880	biolink:PhenotypicFeature	Sclerotic foci of the humerus		UMLS:C4021717	hp.json	Humeral sclerotic foci	http://purl.obolibrary.org/obo/HP_0003880							
HP:0003881	biolink:PhenotypicFeature	Humeral sclerosis		UMLS:C4021716	hp.json	Increased bone density in long bone of upper arm|Sclerosis of humerus	http://purl.obolibrary.org/obo/HP_0003881							
HP:0003882	biolink:PhenotypicFeature	Slender humerus	Reduction in diameter of the humerus.	UMLS:C4021851	hp.json	Slender long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003882							
HP:0003883	biolink:PhenotypicFeature	Tapered humerus		UMLS:C4025531	hp.json	Tapered long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003883							
HP:0003884	biolink:PhenotypicFeature	Triangular humerus		UMLS:C4025530	hp.json	Triangular long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003884							
HP:0003885	biolink:PhenotypicFeature	Undermodeled humerus		UMLS:C4025529	hp.json		http://purl.obolibrary.org/obo/HP_0003885							
HP:0003886	biolink:PhenotypicFeature	Wide humerus		UMLS:C4021715	hp.json	Wide long bone of upper arm|Broad humerus	http://purl.obolibrary.org/obo/HP_0003886							
HP:0003887	biolink:PhenotypicFeature	Abnormality of the humeral heads		UMLS:C4025528	hp.json	Abnormal head of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003887							
HP:0003888	biolink:PhenotypicFeature	Flattened humeral heads		UMLS:C3808869	hp.json	Flattended head of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003888							
HP:0003889	biolink:PhenotypicFeature	Abnormality of the deltoid tuberosities		UMLS:C4025527	hp.json		http://purl.obolibrary.org/obo/HP_0003889							
HP:0003890	biolink:PhenotypicFeature	Prominent deltoid tuberosities		UMLS:C2674600	hp.json		http://purl.obolibrary.org/obo/HP_0003890							
HP:0003891	biolink:PhenotypicFeature	Abnormality of the humeral epiphysis	An anomaly of the humeral epiphysis.	UMLS:C4021714	hp.json	Abnormality of end part of the long bone of the upper arm|Abnormality of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003891							
HP:0003892	biolink:PhenotypicFeature	Absent humeral epiphyseal ossification	Lack of formation of bone in the epiphysis of the humerus.	UMLS:C4021713	hp.json	Absent maturation of end part of long bone in upper arm|Absent ossification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003892							
HP:0003893	biolink:PhenotypicFeature	Advanced ossification of the humeral epiphysis	Ossification of the humeral epiphysis at an earlier age than normal.	UMLS:C4020836|UMLS:C4025526	hp.json	Accelerated maturation of end part of long bone in upper arm|Advanced maturation of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003893							
HP:0003894	biolink:PhenotypicFeature	Delayed humeral epiphyseal ossification	A delay in the process of formation and maturation of the humeral epiphysis.	UMLS:C4021712|UMLS:C4280543	hp.json	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							
HP:0003895	biolink:PhenotypicFeature	Flattened humeral epiphyses		UMLS:C4025525	hp.json	Flattened end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003895							
HP:0003896	biolink:PhenotypicFeature	Irregular humeral epiphyses		UMLS:C4025524	hp.json	Irregular end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003896							
HP:0003897	biolink:PhenotypicFeature	Irregular ossification of the humeral epiphyses		UMLS:C4025523|UMLS:C4280542	hp.json	Irregular maturation of the end part of the long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003897							
HP:0003898	biolink:PhenotypicFeature	Large humeral epiphyses		UMLS:C4025522	hp.json	Large end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003898							
HP:0003899	biolink:PhenotypicFeature	Round humeral epiphyses		UMLS:C4025521	hp.json	Round end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003899							
HP:0003900	biolink:PhenotypicFeature	Small humeral epiphyses		UMLS:C4025520	hp.json	Small end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003900							
HP:0003901	biolink:PhenotypicFeature	Stippled calcification of the humeral epiphyses		UMLS:C4025519	hp.json		http://purl.obolibrary.org/obo/HP_0003901							
HP:0003902	biolink:PhenotypicFeature	Epiphyseal stippling of the humerus	The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.	UMLS:C4021711	hp.json	Stippled ossification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003902							
HP:0003903	biolink:PhenotypicFeature	Broad humeral epiphyses	Increased width of the humeral epiphysis.	UMLS:C4021710	hp.json	Wide end part of long bone in upper arm|Wide humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003903							
HP:0003904	biolink:PhenotypicFeature	Wide epiphyses of the upper limbs		UMLS:C4021709	hp.json	Wide end part of upper limb bones|Broad epiphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003904							
HP:0003905	biolink:PhenotypicFeature	Abnormality of the humeral epiphyseal plate		UMLS:C4025518|UMLS:C4280541	hp.json	Abnormality of arm long bone growth plate	http://purl.obolibrary.org/obo/HP_0003905							
HP:0003906	biolink:PhenotypicFeature	Broad humeral epiphyseal plate	Increased width of the humeral epiphyseal growth plate.	UMLS:C4021708|UMLS:C4280540	hp.json	Wide long bone of arm growth plate|Wide humeral epiphyseal plate	http://purl.obolibrary.org/obo/HP_0003906							
HP:0003907	biolink:PhenotypicFeature	Abnormality of the humeral metaphyses		UMLS:C4025517	hp.json	Abnormality of the wide portion of the long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003907							
HP:0003908	biolink:PhenotypicFeature	Corner fracture of metaphysis	Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.	UMLS:C4025516	hp.json	Bucket handle fracture|Metaphyseal corner fracture	http://purl.obolibrary.org/obo/HP_0003908							
HP:0003909	biolink:PhenotypicFeature	Cortical subperiosteal resorption of humeral metaphyses		UMLS:C4025515	hp.json		http://purl.obolibrary.org/obo/HP_0003909							
HP:0003910	biolink:PhenotypicFeature	Enlarged humeral metaphyses		UMLS:C4021707	hp.json	Enlarged wide portion of long bone of upper arm|Expanded humeral metaphyses	http://purl.obolibrary.org/obo/HP_0003910							
HP:0003911	biolink:PhenotypicFeature	Flared humeral metaphysis	Flaring (increase of width with a splayed appearance) of the humeral metaphysis.	UMLS:C4020835|UMLS:C4020912	hp.json	Flared wide portion of long bone of upper arm|Wide/broad humeral metaphysis|Flared humerus	http://purl.obolibrary.org/obo/HP_0003911							
HP:0003912	biolink:PhenotypicFeature	Frayed humeral metaphyses		UMLS:C4025514	hp.json		http://purl.obolibrary.org/obo/HP_0003912							
HP:0003913	biolink:PhenotypicFeature	Humeral metaphyseal irregularity		UMLS:C4021706	hp.json	Irregular wide portion of long bone in upper arm|Irregular humeral metaphyses	http://purl.obolibrary.org/obo/HP_0003913							
HP:0003914	biolink:PhenotypicFeature	Irregular ossification of humeral metaphyses		UMLS:C4025513	hp.json	Irregular bone maturation of the wide portion of the long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003914							
HP:0003915	biolink:PhenotypicFeature	Lytic defects of the humeral metaphysis		UMLS:C4025512	hp.json		http://purl.obolibrary.org/obo/HP_0003915							
HP:0003916	biolink:PhenotypicFeature	Normal-density transverse humeral bands		UMLS:C4025511	hp.json		http://purl.obolibrary.org/obo/HP_0003916							
HP:0003917	biolink:PhenotypicFeature	Pointed humeral metaphysis		UMLS:C4025510	hp.json	Pointed wide portion of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003917							
HP:0003918	biolink:PhenotypicFeature	Sclerotic humeral metaphysis		UMLS:C4025509	hp.json	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	biolink:PhenotypicFeature	Sclerotic humeral metaphysis with longitudinal striations		UMLS:C4025508	hp.json		http://purl.obolibrary.org/obo/HP_0003919							
HP:0003920	biolink:PhenotypicFeature	Sloping humeral metaphysis		UMLS:C4025507	hp.json	Sloping metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003920							
HP:0003921	biolink:PhenotypicFeature	Laterally sloping humeral metaphysis		UMLS:C4025506	hp.json	Laterally sloping metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003921							
HP:0003922	biolink:PhenotypicFeature	Spurred humeral metaphysis		UMLS:C4025505	hp.json	Spurred metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003922							
HP:0003923	biolink:PhenotypicFeature	Square humeral metaphysis		UMLS:C4025504	hp.json	Square metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003923							
HP:0003924	biolink:PhenotypicFeature	Stippled calcification of humeral metaphysis		UMLS:C4025503	hp.json	Speckled calcification in metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003924							
HP:0003926	biolink:PhenotypicFeature	Abnormality of the humeral diaphysis	An anomaly of the humeral diaphysis.	UMLS:C4025502	hp.json	Abnormality of shaft of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003926							
HP:0003927	biolink:PhenotypicFeature	Cortical irregularity of humeral diaphysis	An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.	UMLS:C4025501	hp.json		http://purl.obolibrary.org/obo/HP_0003927							
HP:0003928	biolink:PhenotypicFeature	Cortical thickening of humeral diaphysis		UMLS:C4025500	hp.json		http://purl.obolibrary.org/obo/HP_0003928							
HP:0003929	biolink:PhenotypicFeature	Ground glass opacity of humeral diaphysis		UMLS:C4025499	hp.json		http://purl.obolibrary.org/obo/HP_0003929							
HP:0003930	biolink:PhenotypicFeature	Lytic defects of humeral diaphysis		UMLS:C4021705	hp.json	Humeral diaphyseal lysis	http://purl.obolibrary.org/obo/HP_0003930							
HP:0003931	biolink:PhenotypicFeature	Periosteal new bone of humeral diaphysis		UMLS:C4025498	hp.json		http://purl.obolibrary.org/obo/HP_0003931							
HP:0003932	biolink:PhenotypicFeature	Sclerotic foci of humeral diaphysis		UMLS:C4025497	hp.json		http://purl.obolibrary.org/obo/HP_0003932							
HP:0003933	biolink:PhenotypicFeature	Sclerosis of humeral diaphysis		UMLS:C4025496	hp.json	Increased bone density in shaft of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003933							
HP:0003934	biolink:PhenotypicFeature	Slender humeral diaphysis		UMLS:C4025495	hp.json	Slender shaft of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003934							
HP:0003935	biolink:PhenotypicFeature	Wide humeral diaphysis	Increased width of the humeral diaphysis.	UMLS:C4021704	hp.json	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							
HP:0003938	biolink:PhenotypicFeature	Synostosis involving the elbow		UMLS:C4025494	hp.json	Bone fusion involving the elbow	http://purl.obolibrary.org/obo/HP_0003938							
HP:0003939	biolink:PhenotypicFeature	Humeroulnar synostosis	An abnormal osseous union (fusion) between the ulna and the humerus.	SNOMEDCT_US:205330003|UMLS:C0431799	hp.json	Humeral ulnar synostosis	http://purl.obolibrary.org/obo/HP_0003939							
HP:0003940	biolink:PhenotypicFeature	Osteoarthritis of the elbow		SNOMEDCT_US:239866002|UMLS:C0409954	hp.json		http://purl.obolibrary.org/obo/HP_0003940							
HP:0003941	biolink:PhenotypicFeature	Stippled calcification of the elbow		UMLS:C4025493	hp.json		http://purl.obolibrary.org/obo/HP_0003941							
HP:0003942	biolink:PhenotypicFeature	Synovial chondromatosis of the elbow		UMLS:C4025492	hp.json		http://purl.obolibrary.org/obo/HP_0003942							
HP:0003943	biolink:PhenotypicFeature	Abnormality of the joint spaces of the elbow		UMLS:C4025491	hp.json	Abnormality of the joint spaces of the elbow	http://purl.obolibrary.org/obo/HP_0003943							
HP:0003944	biolink:PhenotypicFeature	Narrow joint spaces of the elbow		UMLS:C4025490	hp.json	Narrow joint spaces of the elbow	http://purl.obolibrary.org/obo/HP_0003944							
HP:0003945	biolink:PhenotypicFeature	Irregular articular surfaces of the elbow joints		UMLS:C4025489	hp.json		http://purl.obolibrary.org/obo/HP_0003945							
HP:0003946	biolink:PhenotypicFeature	Abnormality of the epiphyses of the elbow		UMLS:C4025488	hp.json	Abnormality of end part of the elbow bone	http://purl.obolibrary.org/obo/HP_0003946							
HP:0003947	biolink:PhenotypicFeature	Delayed elbow epiphyseal ossification	A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.	UMLS:C4025487	hp.json	Delayed maturation of the end part of the elbow bone	http://purl.obolibrary.org/obo/HP_0003947							
HP:0003948	biolink:PhenotypicFeature	Irregular epiphyses of the elbow		UMLS:C4025486	hp.json	Irregular end part of the elbow bone	http://purl.obolibrary.org/obo/HP_0003948							
HP:0003949	biolink:PhenotypicFeature	Abnormality of the elbow metaphyses		UMLS:C4025485	hp.json	Abnormal wide portion of elbow bone	http://purl.obolibrary.org/obo/HP_0003949							
HP:0003950	biolink:PhenotypicFeature	Flared elbow metaphyses		UMLS:C4025484	hp.json	Flared wide portion of elbow bone	http://purl.obolibrary.org/obo/HP_0003950							
HP:0003951	biolink:PhenotypicFeature	Distal humeral metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).	UMLS:C4021703	hp.json	Irregular wide portion of elbow bone|Irregular metaphyses of elbow	http://purl.obolibrary.org/obo/HP_0003951							
HP:0003952	biolink:PhenotypicFeature	Sclerotic foci of metaphyses of the elbow		UMLS:C4021702	hp.json	Vertical linear mixed lucent and sclerotic pattern of metaphyses	http://purl.obolibrary.org/obo/HP_0003952							
HP:0003953	biolink:PhenotypicFeature	Absent forearm bone	Absence of one or more forearm bones associated with congenital failure of development.	UMLS:C4021701	hp.json	Absent forearm bone|Aplasia of the forearm bones	http://purl.obolibrary.org/obo/HP_0003953							
HP:0003954	biolink:PhenotypicFeature	Angulated forearm bones		UMLS:C4025483	hp.json	Angulated forearm bones	http://purl.obolibrary.org/obo/HP_0003954							
HP:0003955	biolink:PhenotypicFeature	Bone-in-a-bone appearance of forearm	A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.	UMLS:C4025482	hp.json	Bone-in-a-bone appearance of forearm	http://purl.obolibrary.org/obo/HP_0003955							
HP:0003956	biolink:PhenotypicFeature	Bowed forearm bones	A bending or abnormal curvature affecting either the radius, the ulna, or both.	UMLS:C4025481	hp.json	Bowed forearm bones	http://purl.obolibrary.org/obo/HP_0003956							
HP:0003957	biolink:PhenotypicFeature	Cortical thickening of the forearm bones		UMLS:C4021842	hp.json		http://purl.obolibrary.org/obo/HP_0003957							
HP:0003958	biolink:PhenotypicFeature	Cross-fusion of the forearm bones		UMLS:C4025480	hp.json		http://purl.obolibrary.org/obo/HP_0003958							
HP:0003959	biolink:PhenotypicFeature	Deformed forearm bones		UMLS:C4025479	hp.json	Deformed forearm bones	http://purl.obolibrary.org/obo/HP_0003959							
HP:0003960	biolink:PhenotypicFeature	Exostoses of the forearm bones		UMLS:C4025478	hp.json		http://purl.obolibrary.org/obo/HP_0003960							
HP:0003961	biolink:PhenotypicFeature	Fractured forearm bones	Bone fracture in the radius, ulna, or wrist.	UMLS:C4025477	hp.json	Fractured forearm bones|Broken forearm|Fracture of the forearm	http://purl.obolibrary.org/obo/HP_0003961							
HP:0003963	biolink:PhenotypicFeature	Lytic defects of the forearm bones		UMLS:C4025476	hp.json		http://purl.obolibrary.org/obo/HP_0003963							
HP:0003964	biolink:PhenotypicFeature	Osteoporotic forearm bones		UMLS:C4025475	hp.json		http://purl.obolibrary.org/obo/HP_0003964							
HP:0003965	biolink:PhenotypicFeature	Pseudarthrosis of the forearm bones		UMLS:C4025474	hp.json		http://purl.obolibrary.org/obo/HP_0003965							
HP:0003966	biolink:PhenotypicFeature	Sclerotic foci in forearm bones		UMLS:C4025473	hp.json		http://purl.obolibrary.org/obo/HP_0003966							
HP:0003967	biolink:PhenotypicFeature	Sclerotic forearm bones		UMLS:C4025472	hp.json	Increased bone density of forearm bones	http://purl.obolibrary.org/obo/HP_0003967							
HP:0003969	biolink:PhenotypicFeature	Slender forearm bones		UMLS:C4025471	hp.json		http://purl.obolibrary.org/obo/HP_0003969							
HP:0003970	biolink:PhenotypicFeature	Undermodelled forearm bones		UMLS:C4025470	hp.json		http://purl.obolibrary.org/obo/HP_0003970							
HP:0003971	biolink:PhenotypicFeature	Broad forearm bones	Abnormally wide bone of the skeleton of forearm.	UMLS:C4021700	hp.json	Broad forearm bones|Wide forearm bones	http://purl.obolibrary.org/obo/HP_0003971							
HP:0003973	biolink:PhenotypicFeature	Wide radioulnar joints		UMLS:C4021699	hp.json	Broad radioulnar joints	http://purl.obolibrary.org/obo/HP_0003973							
HP:0003974	biolink:PhenotypicFeature	Absent radius	Missing radius bone associated with congenital failure of development.	UMLS:C1405984|UMLS:C1838608|UMLS:C1849314	hp.json	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							hposlim_core
HP:0003975	biolink:PhenotypicFeature	obsolete Chevron-shaped/cone-shaped radius			hp.json		http://purl.obolibrary.org/obo/HP_0003975							
HP:0003976	biolink:PhenotypicFeature	Constricted radius		UMLS:C4025468	hp.json		http://purl.obolibrary.org/obo/HP_0003976							
HP:0003977	biolink:PhenotypicFeature	Deformed radius		UMLS:C4025467	hp.json		http://purl.obolibrary.org/obo/HP_0003977							
HP:0003978	biolink:PhenotypicFeature	Fractured radius		MSH:D011885|SNOMEDCT_US:12676007|UMLS:C0034628	hp.json		http://purl.obolibrary.org/obo/HP_0003978							
HP:0003979	biolink:PhenotypicFeature	Lytic defects of the radius		UMLS:C4021841	hp.json		http://purl.obolibrary.org/obo/HP_0003979							
HP:0003980	biolink:PhenotypicFeature	Pseudarthrosis of the radius		UMLS:C4025466	hp.json		http://purl.obolibrary.org/obo/HP_0003980							
HP:0003981	biolink:PhenotypicFeature	Broad radius	Increased width of the radius.	UMLS:C4021698	hp.json	Wide radius	http://purl.obolibrary.org/obo/HP_0003981							
HP:0003982	biolink:PhenotypicFeature	Aplasia of the ulna	Missing ulna bone associated with congenital failure of development.	UMLS:C2678397	hp.json	Absent ossification/absent ulna|Absent ulna|Absent ulnae	http://purl.obolibrary.org/obo/HP_0003982							hposlim_core
HP:0003984	biolink:PhenotypicFeature	Posteriorly dislocated ulna		UMLS:C4025465	hp.json		http://purl.obolibrary.org/obo/HP_0003984							
HP:0003985	biolink:PhenotypicFeature	Exostoses of the ulna		UMLS:C4025464	hp.json		http://purl.obolibrary.org/obo/HP_0003985							
HP:0003986	biolink:PhenotypicFeature	Exostoses of the radius		UMLS:C4025463	hp.json		http://purl.obolibrary.org/obo/HP_0003986							
HP:0003987	biolink:PhenotypicFeature	Fractured ulna		MSH:D014458|SNOMEDCT_US:54556006|UMLS:C0041601	hp.json		http://purl.obolibrary.org/obo/HP_0003987							
HP:0003988	biolink:PhenotypicFeature	Long ulna	Increased length of the ulna.	UMLS:C1848108	hp.json	Disproportionately long ulnae	http://purl.obolibrary.org/obo/HP_0003988							hposlim_core
HP:0003989	biolink:PhenotypicFeature	Notched ulna		UMLS:C4025462	hp.json		http://purl.obolibrary.org/obo/HP_0003989							
HP:0003990	biolink:PhenotypicFeature	Pointed ulna		UMLS:C4025461	hp.json		http://purl.obolibrary.org/obo/HP_0003990							
HP:0003991	biolink:PhenotypicFeature	Osteosclerosis of the ulna	Osteosclerosis (increased density related to increased bone mass) of the ulna.	UMLS:C4021697	hp.json	Sclerotic ulna	http://purl.obolibrary.org/obo/HP_0003991							
HP:0003992	biolink:PhenotypicFeature	Slender ulna	Reduction in diameter of the ulna.	UMLS:C1968814	hp.json		http://purl.obolibrary.org/obo/HP_0003992							
HP:0003993	biolink:PhenotypicFeature	Broad ulna	Increased width of the ulna.	UMLS:C4020692|UMLS:C4025460	hp.json	Wide ulna	http://purl.obolibrary.org/obo/HP_0003993							
HP:0003994	biolink:PhenotypicFeature	Dislocated wrist	An injury of the wrist with displacement of any of the eight carpal bones.	MEDDRA:10013184|SNOMEDCT_US:125618007|UMLS:C0159941	hp.json	Dislocated wrist|Dislocations of the wrists	http://purl.obolibrary.org/obo/HP_0003994							
HP:0003995	biolink:PhenotypicFeature	Abnormality of the radial head		UMLS:C4021696	hp.json	Deformity of radial heads	http://purl.obolibrary.org/obo/HP_0003995							
HP:0003996	biolink:PhenotypicFeature	Flattened radial head		UMLS:C4025459	hp.json		http://purl.obolibrary.org/obo/HP_0003996							
HP:0003997	biolink:PhenotypicFeature	Hypoplastic radial head		UMLS:C4021695	hp.json	Small radial head	http://purl.obolibrary.org/obo/HP_0003997							
HP:0003998	biolink:PhenotypicFeature	Constricted radial neck		UMLS:C4025458	hp.json		http://purl.obolibrary.org/obo/HP_0003998							
HP:0003999	biolink:PhenotypicFeature	Abnormality of radial epiphyses		UMLS:C4021694	hp.json	Abnormality of radial epiphyseal plates	http://purl.obolibrary.org/obo/HP_0003999							
HP:0004000	biolink:PhenotypicFeature	Cone-shaped distal radial epiphysis	The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.	UMLS:C4025457	hp.json	Chevron-shaped distal radial epiphysis	http://purl.obolibrary.org/obo/HP_0004000							
HP:0004001	biolink:PhenotypicFeature	Medially deficient radial epiphyses		UMLS:C4025456	hp.json		http://purl.obolibrary.org/obo/HP_0004001							
HP:0004002	biolink:PhenotypicFeature	Flattened radial epiphyses		UMLS:C4025455	hp.json		http://purl.obolibrary.org/obo/HP_0004002							
HP:0004003	biolink:PhenotypicFeature	Medially flattened radial epiphyses		UMLS:C4025454	hp.json		http://purl.obolibrary.org/obo/HP_0004003							
HP:0004004	biolink:PhenotypicFeature	Irregular radial epiphyses		UMLS:C4025453	hp.json		http://purl.obolibrary.org/obo/HP_0004004							
HP:0004005	biolink:PhenotypicFeature	Large radial epiphyses		UMLS:C4025452	hp.json		http://purl.obolibrary.org/obo/HP_0004005							
HP:0004006	biolink:PhenotypicFeature	Round radial epiphyses		UMLS:C4025451	hp.json		http://purl.obolibrary.org/obo/HP_0004006							
HP:0004007	biolink:PhenotypicFeature	Sclerotic radial epiphyses		UMLS:C4025450	hp.json		http://purl.obolibrary.org/obo/HP_0004007							
HP:0004008	biolink:PhenotypicFeature	Sloping radial epiphyses		UMLS:C4025449	hp.json		http://purl.obolibrary.org/obo/HP_0004008							
HP:0004009	biolink:PhenotypicFeature	Medially sloping radial epiphyses		UMLS:C4025448	hp.json		http://purl.obolibrary.org/obo/HP_0004009							
HP:0004010	biolink:PhenotypicFeature	Small radial epiphyses		UMLS:C4025447	hp.json		http://purl.obolibrary.org/obo/HP_0004010							
HP:0004012	biolink:PhenotypicFeature	Premature fusion of the radial epiphyseal plates	A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.	UMLS:C4025446	hp.json		http://purl.obolibrary.org/obo/HP_0004012							
HP:0004013	biolink:PhenotypicFeature	Medially fused radial epiphyseal plates		UMLS:C4025445	hp.json		http://purl.obolibrary.org/obo/HP_0004013							
HP:0004014	biolink:PhenotypicFeature	Broad radial epiphyseal plate	Abnormal increase in width of the epiphyseal growth plate of the radius.	UMLS:C4021693	hp.json	Wide radial epiphyseal plates	http://purl.obolibrary.org/obo/HP_0004014							
HP:0004015	biolink:PhenotypicFeature	Abnormality of radial metaphyses		UMLS:C4025444	hp.json		http://purl.obolibrary.org/obo/HP_0004015							
HP:0004016	biolink:PhenotypicFeature	Cupped radial metaphyses		UMLS:C4025443	hp.json		http://purl.obolibrary.org/obo/HP_0004016							
HP:0004017	biolink:PhenotypicFeature	Exostoses of the radial metaphysis		UMLS:C4025442	hp.json		http://purl.obolibrary.org/obo/HP_0004017							
HP:0004018	biolink:PhenotypicFeature	Flared radial metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.	UMLS:C4025441	hp.json	Broadening of the distal radius	http://purl.obolibrary.org/obo/HP_0004018							
HP:0004019	biolink:PhenotypicFeature	Radial metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis of the radius.	UMLS:C4021692	hp.json	Irregular radial metaphysis	http://purl.obolibrary.org/obo/HP_0004019							
HP:0004020	biolink:PhenotypicFeature	Irregular ossification of the radial metaphysis		UMLS:C4025440	hp.json		http://purl.obolibrary.org/obo/HP_0004020							
HP:0004021	biolink:PhenotypicFeature	Lytic defects of radial metaphysis		UMLS:C4025439	hp.json		http://purl.obolibrary.org/obo/HP_0004021							
HP:0004022	biolink:PhenotypicFeature	Sclerotic radial metaphysis with longitudinal striations		UMLS:C4025438	hp.json		http://purl.obolibrary.org/obo/HP_0004022							
HP:0004023	biolink:PhenotypicFeature	Sloping radial metaphysis		UMLS:C4025437	hp.json		http://purl.obolibrary.org/obo/HP_0004023							
HP:0004024	biolink:PhenotypicFeature	Medially sloping radial metaphysis		UMLS:C4025436	hp.json		http://purl.obolibrary.org/obo/HP_0004024							
HP:0004025	biolink:PhenotypicFeature	Spurred radial metaphysis		UMLS:C4025435	hp.json		http://purl.obolibrary.org/obo/HP_0004025							
HP:0004026	biolink:PhenotypicFeature	Broad radial metaphysis	Increase in width (breadth) of the radial metaphysis.	UMLS:C4021691	hp.json	Wide radial metaphysis	http://purl.obolibrary.org/obo/HP_0004026							
HP:0004027	biolink:PhenotypicFeature	Abnormality of radial diaphysis	An anomaly of the radial diaphysis.	UMLS:C4025434	hp.json		http://purl.obolibrary.org/obo/HP_0004027							
HP:0004028	biolink:PhenotypicFeature	Spurs of radial diaphysis		UMLS:C4025433	hp.json		http://purl.obolibrary.org/obo/HP_0004028							
HP:0004029	biolink:PhenotypicFeature	Lytic defects of radial diaphysis		UMLS:C4025432	hp.json		http://purl.obolibrary.org/obo/HP_0004029							
HP:0004030	biolink:PhenotypicFeature	Patchy sclerosis of radial diaphysis		UMLS:C4025431	hp.json		http://purl.obolibrary.org/obo/HP_0004030							
HP:0004031	biolink:PhenotypicFeature	Broad radial diaphysis	Increase in width of the diaphysis of radius.	UMLS:C4021690	hp.json	Wide radial diaphysis	http://purl.obolibrary.org/obo/HP_0004031							
HP:0004032	biolink:PhenotypicFeature	Abnormality of the olecranon		UMLS:C4025430	hp.json		http://purl.obolibrary.org/obo/HP_0004032							
HP:0004033	biolink:PhenotypicFeature	Curved olecranon		UMLS:C4025429	hp.json		http://purl.obolibrary.org/obo/HP_0004033							
HP:0004034	biolink:PhenotypicFeature	Irregular olecranon		UMLS:C4025428	hp.json		http://purl.obolibrary.org/obo/HP_0004034							
HP:0004035	biolink:PhenotypicFeature	Abnormality of the styloid process of ulna		UMLS:C4025427	hp.json		http://purl.obolibrary.org/obo/HP_0004035							
HP:0004036	biolink:PhenotypicFeature	Long styloid process of ulna		UMLS:C4025426	hp.json		http://purl.obolibrary.org/obo/HP_0004036							
HP:0004037	biolink:PhenotypicFeature	Abnormality of the ulnar epiphyses		UMLS:C4021689	hp.json	Abnormality of the epiphyseal plate of the ulna	http://purl.obolibrary.org/obo/HP_0004037							
HP:0004038	biolink:PhenotypicFeature	obsolete Bony spicule of ulnar epiphyseal plate			hp.json		http://purl.obolibrary.org/obo/HP_0004038							
HP:0004039	biolink:PhenotypicFeature	Abnormality of ulnar metaphysis		UMLS:C4025424	hp.json		http://purl.obolibrary.org/obo/HP_0004039							
HP:0004040	biolink:PhenotypicFeature	Corner fragments of ulnar metaphysis		UMLS:C4025423	hp.json		http://purl.obolibrary.org/obo/HP_0004040							
HP:0004041	biolink:PhenotypicFeature	Cupped ulnar metaphysis		UMLS:C4025422	hp.json		http://purl.obolibrary.org/obo/HP_0004041							
HP:0004042	biolink:PhenotypicFeature	Ulnar metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis of the ulna.	UMLS:C4021688	hp.json	Irregular ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0004042							
HP:0004043	biolink:PhenotypicFeature	Lytic defects of ulnar metaphysis		UMLS:C4025421	hp.json		http://purl.obolibrary.org/obo/HP_0004043							
HP:0004044	biolink:PhenotypicFeature	Pointed ulnar metaphysis		UMLS:C4025420	hp.json		http://purl.obolibrary.org/obo/HP_0004044							
HP:0004045	biolink:PhenotypicFeature	Sloping ulnar metaphysis	A sloped configuration of the metaphysis (shaft) of the ulna.	UMLS:C4025419	hp.json		http://purl.obolibrary.org/obo/HP_0004045							
HP:0004046	biolink:PhenotypicFeature	Spurred ulnar metaphysis		UMLS:C4025418	hp.json		http://purl.obolibrary.org/obo/HP_0004046							
HP:0004047	biolink:PhenotypicFeature	Wide ulnar metaphysis	Increase in width (breadth) of the ulnar metaphysis.	UMLS:C4021687	hp.json	Broad ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0004047							
HP:0004048	biolink:PhenotypicFeature	Narrow joint spaces of wrist		UMLS:C4025417	hp.json		http://purl.obolibrary.org/obo/HP_0004048							
HP:0004049	biolink:PhenotypicFeature	Decreased carpal angles of wrist		UMLS:C4025416	hp.json		http://purl.obolibrary.org/obo/HP_0004049							
HP:0004050	biolink:PhenotypicFeature	Absent hand	The total absence of the hand, with no bony elements distal to the radius or ulna.	SNOMEDCT_US:371199008|UMLS:C0265594	hp.json	Absent hand|Acheiria	http://purl.obolibrary.org/obo/HP_0004050							hposlim_core
HP:0004051	biolink:PhenotypicFeature	Advanced ossification of the hand bones	Ossification of hand bones at an earlier age than normal.	UMLS:C4020834	hp.json	Accelerated maturation of hand bones|Advanced maturation of the hand bones	http://purl.obolibrary.org/obo/HP_0004051							
HP:0004052	biolink:PhenotypicFeature	Delayed ossification of the hand bones	Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.	UMLS:C4020833|UMLS:C4021686	hp.json	Delayed maturation of the hand bones|Delay maturation/delayed ossification of the hand	http://purl.obolibrary.org/obo/HP_0004052							
HP:0004053	biolink:PhenotypicFeature	Dysharmonic maturation of the hand bones	Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.	UMLS:C4021685	hp.json	Disharmonic maturation of the hand bones|Dysharmonic ossification of the hand bones	http://purl.obolibrary.org/obo/HP_0004053							
HP:0004054	biolink:PhenotypicFeature	Sclerosis of hand bone	Osteosclerosis affecting one or more bones of the hand.	UMLS:C4021684	hp.json	Increased bone density in hand bone|Generalised sclerosis of hand bones|Generalized sclerosis of hand bones|Hand bone sclerosis|Increased bone density in hand bones	http://purl.obolibrary.org/obo/HP_0004054							
HP:0004057	biolink:PhenotypicFeature	Mitten deformity	Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.	UMLS:C1969236	hp.json	Pseudosyndactyly	http://purl.obolibrary.org/obo/HP_0004057							
HP:0004058	biolink:PhenotypicFeature	Hand monodactyly		UMLS:C4025415	hp.json		http://purl.obolibrary.org/obo/HP_0004058							
HP:0004059	biolink:PhenotypicFeature	Radial club hand	Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.	UMLS:C4025414	hp.json		http://purl.obolibrary.org/obo/HP_0004059							
HP:0004060	biolink:PhenotypicFeature	Trident hand	A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.	SNOMEDCT_US:249755001|UMLS:C0426874	hp.json	trident abnormality|trident deformity	http://purl.obolibrary.org/obo/HP_0004060							hposlim_core
HP:0004066	biolink:PhenotypicFeature	obsolete Laterally deviated thumb phalanges			hp.json		http://purl.obolibrary.org/obo/HP_0004066							
HP:0004083	biolink:PhenotypicFeature	obsolete Laterally deviated terminal thumb phalanx			hp.json		http://purl.obolibrary.org/obo/HP_0004083							
HP:0004090	biolink:PhenotypicFeature	obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis			hp.json		http://purl.obolibrary.org/obo/HP_0004090							
HP:0004095	biolink:PhenotypicFeature	Curved fingers		UMLS:C4025413	hp.json	Curved fingers	http://purl.obolibrary.org/obo/HP_0004095							
HP:0004097	biolink:PhenotypicFeature	Deviation of finger	Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.	SNOMEDCT_US:203556007|SNOMEDCT_US:26517000|UMLS:C0410740	hp.json	Atypical position of finger|Finger pointing in a different direction than usual|Deviated fingers	http://purl.obolibrary.org/obo/HP_0004097							
HP:0004099	biolink:PhenotypicFeature	Macrodactyly	Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.	MEDDRA:10025386|MSH:C562546|SNOMEDCT_US:48449000|UMLS:C0265552	hp.json	Finger overgrowth|Megalodactyly	http://purl.obolibrary.org/obo/HP_0004099							hposlim_core
HP:0004100	biolink:PhenotypicFeature	Abnormal 2nd finger morphology	An anomaly of the second finger, also known as the index finger.	UMLS:C4021683	hp.json	Abnormality of index finger|Abnormality of the 2nd finger	http://purl.obolibrary.org/obo/HP_0004100							
HP:0004110	biolink:PhenotypicFeature	obsolete Radially deviated index finger phalanges			hp.json		http://purl.obolibrary.org/obo/HP_0004110							
HP:0004112	biolink:PhenotypicFeature	Midline nasal groove	An abnormal groove on the midline of the nose that may extend to the nasal tip.	UMLS:C4025412	hp.json	Central nasal groove|Midline nasal groove	http://purl.obolibrary.org/obo/HP_0004112							
HP:0004121	biolink:PhenotypicFeature	obsolete Radially displaced proximal index finger phalanx			hp.json		http://purl.obolibrary.org/obo/HP_0004121							
HP:0004122	biolink:PhenotypicFeature	Midline defect of the nose	This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.	UMLS:C4025411|UMLS:C4280539	hp.json	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							
HP:0004132	biolink:PhenotypicFeature	Dimple on nasal tip	An abnormal indentation of the skin in the region of the nasal tip.	UMLS:C1863349	hp.json	Dimple on nasal tip|Dimpled tip of nose	http://purl.obolibrary.org/obo/HP_0004132							
HP:0004138	biolink:PhenotypicFeature	obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger			hp.json		http://purl.obolibrary.org/obo/HP_0004138							
HP:0004139	biolink:PhenotypicFeature	obsolete Flared metaphysis of middle phalanx of index finger			hp.json		http://purl.obolibrary.org/obo/HP_0004139							
HP:0004143	biolink:PhenotypicFeature	obsolete Radially deviated terminal index finger phalanx			hp.json		http://purl.obolibrary.org/obo/HP_0004143							
HP:0004144	biolink:PhenotypicFeature	obsolete Duplication of terminal index finger phalanx			hp.json		http://purl.obolibrary.org/obo/HP_0004144							
HP:0004150	biolink:PhenotypicFeature	Abnormal 3rd finger morphology	An anomaly of the third finger.	UMLS:C4021682	hp.json	Abnormality of the 3rd finger|Abnormality of the middle finger	http://purl.obolibrary.org/obo/HP_0004150							
HP:0004153	biolink:PhenotypicFeature	obsolete Overgrowth of middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004153							
HP:0004157	biolink:PhenotypicFeature	obsolete Accessory middle-finger phalanges			hp.json		http://purl.obolibrary.org/obo/HP_0004157							
HP:0004161	biolink:PhenotypicFeature	obsolete Periosteal new bone of middle finger phalanges			hp.json		http://purl.obolibrary.org/obo/HP_0004161							
HP:0004162	biolink:PhenotypicFeature	obsolete Radially pointed middle finger phalanges			hp.json		http://purl.obolibrary.org/obo/HP_0004162							
HP:0004168	biolink:PhenotypicFeature	obsolete Radially pointed proximal middle-finger phalanx			hp.json		http://purl.obolibrary.org/obo/HP_0004168							
HP:0004172	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 3rd finger		UMLS:C4025410	hp.json	Abnormal middle finger bone of the middle finger	http://purl.obolibrary.org/obo/HP_0004172							
HP:0004174	biolink:PhenotypicFeature	obsolete Accessory middle phalanx of middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004174							
HP:0004175	biolink:PhenotypicFeature	obsolete Periosteal new bone of middle phalanx of middle-finger			hp.json		http://purl.obolibrary.org/obo/HP_0004175							
HP:0004180	biolink:PhenotypicFeature	Short distal phalanx of the 3rd finger	Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.	UMLS:C4021681	hp.json	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							
HP:0004183	biolink:PhenotypicFeature	obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004183							
HP:0004184	biolink:PhenotypicFeature	obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004184							
HP:0004185	biolink:PhenotypicFeature	obsolete Fused epiphysis of terminal phalanx of the middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004185							
HP:0004186	biolink:PhenotypicFeature	obsolete Large epiphysis of terminal phalanx of the middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004186							
HP:0004187	biolink:PhenotypicFeature	obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger			hp.json		http://purl.obolibrary.org/obo/HP_0004187							
HP:0004188	biolink:PhenotypicFeature	Abnormal 4th finger morphology		UMLS:C4021680	hp.json	Abnormality of the 4th finger|Abnormality of the ring finger	http://purl.obolibrary.org/obo/HP_0004188							
HP:0004192	biolink:PhenotypicFeature	obsolete Bracket epiphyses of the 4th finger			hp.json		http://purl.obolibrary.org/obo/HP_0004192							
HP:0004193	biolink:PhenotypicFeature	obsolete Expanded phalanges of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004193							
HP:0004194	biolink:PhenotypicFeature	obsolete Hypoplastic phalanges of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004194							
HP:0004195	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 4th finger	Osteolytic defects of the phalanges of the 4th (ring) finger.	UMLS:C4020832|UMLS:C4025409	hp.json	Lytic defects of the phalanges of the ring finger	http://purl.obolibrary.org/obo/HP_0004195							
HP:0004196	biolink:PhenotypicFeature	obsolete Short phalanges of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004196							
HP:0004197	biolink:PhenotypicFeature	Symphalangism of the 4th finger	Fusion of two or more bones of the 4th finger.	UMLS:C4021679	hp.json	Fused ring finger bones|Symphalangism of the ring finger	http://purl.obolibrary.org/obo/HP_0004197							
HP:0004198	biolink:PhenotypicFeature	obsolete Wide/broad phalanges of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004198							
HP:0004201	biolink:PhenotypicFeature	obsolete Expanded proximal phalanx of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004201							
HP:0004202	biolink:PhenotypicFeature	obsolete Lytic defects of the proximal phalanx of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004202							
HP:0004203	biolink:PhenotypicFeature	obsolete Short proximal phalanx of the ring finger			hp.json		http://purl.obolibrary.org/obo/HP_0004203							
HP:0004207	biolink:PhenotypicFeature	Abnormal 5th finger morphology	An abnormality affecting one or both 5th fingers.	UMLS:C4021678	hp.json	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							
HP:0004209	biolink:PhenotypicFeature	Clinodactyly of the 5th finger	Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).	UMLS:C1850049|UMLS:C4280538	hp.json	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							
HP:0004213	biolink:PhenotypicFeature	Abnormal 5th finger phalanx morphology	Abnormality of the phalanges of the 5th (little) finger.	UMLS:C4025408	hp.json	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							
HP:0004214	biolink:PhenotypicFeature	Curved phalanges of the 5th finger	Curved phalanges of the 5th (little) finger.	UMLS:C4025407	hp.json	Curved little finger bone|Curved pinkie finger bone|Curved pinky finger bone	http://purl.obolibrary.org/obo/HP_0004214							
HP:0004216	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 5th finger	Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.	UMLS:C4021677	hp.json	Lytic defects of the phalanges of the little finger	http://purl.obolibrary.org/obo/HP_0004216							
HP:0004218	biolink:PhenotypicFeature	Symphalangism of the 5th finger	Fusion of two or more bones of the 5th finger.	UMLS:C4021676	hp.json	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							
HP:0004219	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 5th finger		UMLS:C4025406	hp.json	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	biolink:PhenotypicFeature	Short middle phalanx of the 5th finger	Hypoplastic/small middle phalanx of the fifth finger.	UMLS:C1834060	hp.json	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|Brachymesophalangy V (finger)|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							
HP:0004222	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 5th finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4021675	hp.json	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							
HP:0004223	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 5th finger	Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4021674	hp.json	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							
HP:0004224	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 5th finger	Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.	UMLS:C4025405	hp.json	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							
HP:0004225	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 5th finger	Abnormality of the distal phalanx of the 5th (little) finger.	UMLS:C4021673	hp.json	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							
HP:0004226	biolink:PhenotypicFeature	Curved distal phalanx of the 5th finger	Curved appearance of the distal phalanx of the 5th (little) finger.	UMLS:C4021672	hp.json	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							
HP:0004227	biolink:PhenotypicFeature	Short distal phalanx of the 5th finger	Hypoplastic/small distal phalanx of the fifth finger.	UMLS:C1836674	hp.json	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							
HP:0004230	biolink:PhenotypicFeature	Subluxation of the proximal interphalangeal joint of the little finger	A partial dislocation of the proximal interphalangeal joint of the little finger.	UMLS:C4025404	hp.json	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							
HP:0004231	biolink:PhenotypicFeature	Carpal bone aplasia	Congenital absence of a carpal bone.	UMLS:C1836219|UMLS:C4280537	hp.json	Absent wrist bone|Missing wrist bone|Absent carpal ossification centre|Absent carpal bone|Absent carpal bones|Absent carpal ossification center|Aplastic carpal bone	http://purl.obolibrary.org/obo/HP_0004231							
HP:0004232	biolink:PhenotypicFeature	Accessory carpal bones	The presence of more than the normal number of carpal bones.	SNOMEDCT_US:20136007|SNOMEDCT_US:9181003|UMLS:C0265609	hp.json	Extra wrist bones|Supernumerary carpal bones	http://purl.obolibrary.org/obo/HP_0004232							
HP:0004233	biolink:PhenotypicFeature	Advanced ossification of carpal bones	Ossification of carpal bones at an abnormally early age.	UMLS:C1849292|UMLS:C4280536	hp.json	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							
HP:0004234	biolink:PhenotypicFeature	Bone-in-a-bone appearance of carpal bones	The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.	UMLS:C4025403	hp.json	Bone-in-a-bone appearance of wrist bones	http://purl.obolibrary.org/obo/HP_0004234							
HP:0004235	biolink:PhenotypicFeature	Comma-shaped carpal bones		UMLS:C4025402	hp.json	Comma-shaped wrist bones	http://purl.obolibrary.org/obo/HP_0004235							
HP:0004236	biolink:PhenotypicFeature	Irregular carpal bones	Carpal bones with irregular or fragmented margins.	UMLS:C4025401	hp.json	Irregular wrist bones	http://purl.obolibrary.org/obo/HP_0004236							
HP:0004237	biolink:PhenotypicFeature	Large carpal bones	Increased size of carpal bones.	UMLS:C4021671	hp.json	Large wrist bones|Large carpals	http://purl.obolibrary.org/obo/HP_0004237							hposlim_core
HP:0004238	biolink:PhenotypicFeature	Lytic defects of carpal bones		UMLS:C4025400	hp.json		http://purl.obolibrary.org/obo/HP_0004238							
HP:0004239	biolink:PhenotypicFeature	Proximally placed carpal bones		UMLS:C4025399	hp.json		http://purl.obolibrary.org/obo/HP_0004239							
HP:0004240	biolink:PhenotypicFeature	Sclerotic foci within carpal bones		UMLS:C4025398|UMLS:C4280535	hp.json	Hardened spots within wrist bones|Stiffened spots within wrist bones	http://purl.obolibrary.org/obo/HP_0004240							
HP:0004241	biolink:PhenotypicFeature	Stippled calcification in carpal bones	Point-shaped (punctate) calcifications affecting the carpal bones.	UMLS:C1844846	hp.json	Punctate calcifications of carpals	http://purl.obolibrary.org/obo/HP_0004241							
HP:0004242	biolink:PhenotypicFeature	Broad carpal bones		UMLS:C3554618	hp.json	Wide wrist bones|Wide carpal bones	http://purl.obolibrary.org/obo/HP_0004242							
HP:0004243	biolink:PhenotypicFeature	Abnormality of the scaphoid		UMLS:C4025397	hp.json		http://purl.obolibrary.org/obo/HP_0004243							
HP:0004244	biolink:PhenotypicFeature	Accessory scaphoid		UMLS:C4025396	hp.json		http://purl.obolibrary.org/obo/HP_0004244							
HP:0004245	biolink:PhenotypicFeature	Comma-shaped scaphoid		UMLS:C4025395	hp.json		http://purl.obolibrary.org/obo/HP_0004245							
HP:0004246	biolink:PhenotypicFeature	Delayed ossification of the scaphoid	Formation of bone tissue of scaphoid is less than expected for age.	UMLS:C4021670	hp.json	Delayed maturation of the scaphoid	http://purl.obolibrary.org/obo/HP_0004246							
HP:0004247	biolink:PhenotypicFeature	Small scaphoid	Underdevelopment of the scaphoid.	UMLS:C4025394	hp.json		http://purl.obolibrary.org/obo/HP_0004247							
HP:0004248	biolink:PhenotypicFeature	Abnormality of the lunate bone		UMLS:C4025393	hp.json		http://purl.obolibrary.org/obo/HP_0004248							
HP:0004249	biolink:PhenotypicFeature	Accessory lunate		UMLS:C4025392	hp.json		http://purl.obolibrary.org/obo/HP_0004249							
HP:0004250	biolink:PhenotypicFeature	Proximally placed lunate		UMLS:C4025391	hp.json		http://purl.obolibrary.org/obo/HP_0004250							
HP:0004251	biolink:PhenotypicFeature	Lunate-triquetral fusion	Osseous fusion of the lunate and triquetrum.	UMLS:C1867930	hp.json	Lunotriquetral synostosis	http://purl.obolibrary.org/obo/HP_0004251							
HP:0004252	biolink:PhenotypicFeature	Abnormality of the trapezium	An anomaly of trapezium.	UMLS:C4025390	hp.json		http://purl.obolibrary.org/obo/HP_0004252							
HP:0004253	biolink:PhenotypicFeature	Absent trapezium		UMLS:C1847190	hp.json	Absent trapezium bone	http://purl.obolibrary.org/obo/HP_0004253							
HP:0004254	biolink:PhenotypicFeature	Delayed ossification of the trapezium	Formation of bone tissue of trapezium is less than expected for age.	UMLS:C4021669	hp.json	Delayed maturation of the trapezium	http://purl.obolibrary.org/obo/HP_0004254							
HP:0004255	biolink:PhenotypicFeature	Small trapezium	Underdevelopment of the trapezium.	UMLS:C4025389	hp.json		http://purl.obolibrary.org/obo/HP_0004255							
HP:0004256	biolink:PhenotypicFeature	Abnormality of the trapezoid bone		UMLS:C4025388	hp.json		http://purl.obolibrary.org/obo/HP_0004256							
HP:0004257	biolink:PhenotypicFeature	Delayed ossification of the trapezoid bone	Formation of bone tissue of trapezoid is less than expected for age.	UMLS:C4021668	hp.json	Delayed maturation of the trapezoid bone	http://purl.obolibrary.org/obo/HP_0004257							
HP:0004258	biolink:PhenotypicFeature	Small trapezoid bone	Underdevelopment of the trapezoid.	UMLS:C4025387	hp.json		http://purl.obolibrary.org/obo/HP_0004258							
HP:0004259	biolink:PhenotypicFeature	Abnormality of the hamate bone		UMLS:C4025386	hp.json		http://purl.obolibrary.org/obo/HP_0004259							
HP:0004260	biolink:PhenotypicFeature	Large hamate bone		UMLS:C4025385	hp.json	Large unciform bone	http://purl.obolibrary.org/obo/HP_0004260							
HP:0004261	biolink:PhenotypicFeature	Wide hamate bone		UMLS:C4021667	hp.json	Broad hamate bone|Wide unciform bone	http://purl.obolibrary.org/obo/HP_0004261							
HP:0004262	biolink:PhenotypicFeature	Abnormality of the capitate bone		UMLS:C4025384	hp.json		http://purl.obolibrary.org/obo/HP_0004262							
HP:0004263	biolink:PhenotypicFeature	Large capitate bone		UMLS:C4025383	hp.json		http://purl.obolibrary.org/obo/HP_0004263							
HP:0004264	biolink:PhenotypicFeature	Narrow carpal joint spaces		UMLS:C4021666	hp.json	Decreased carpal joint angles	http://purl.obolibrary.org/obo/HP_0004264							
HP:0004267	biolink:PhenotypicFeature	Narrow small joints of the hand		UMLS:C4025382	hp.json	Narrow small joints of the hand	http://purl.obolibrary.org/obo/HP_0004267							
HP:0004268	biolink:PhenotypicFeature	Osteoarthritis of the small joints of the hand		UMLS:C4025381	hp.json		http://purl.obolibrary.org/obo/HP_0004268							
HP:0004269	biolink:PhenotypicFeature	Subluxation of the small joints of the hand	A partial dislocation of some or all of the small joints of the hand.	UMLS:C4025380	hp.json	Partial dislocation of small joints of hand	http://purl.obolibrary.org/obo/HP_0004269							
HP:0004271	biolink:PhenotypicFeature	Cortical thickening of hand bones		UMLS:C4025379	hp.json		http://purl.obolibrary.org/obo/HP_0004271							
HP:0004272	biolink:PhenotypicFeature	Cortical thinning of hand bones		UMLS:C4025378	hp.json		http://purl.obolibrary.org/obo/HP_0004272							
HP:0004273	biolink:PhenotypicFeature	Cupped metaphyses of hand bones		UMLS:C4025377	hp.json	Cupped wide portion of hand bones|Cupped metaphysis of hand bones	http://purl.obolibrary.org/obo/HP_0004273							
HP:0004274	biolink:PhenotypicFeature	Deficient ossification of hand bones		UMLS:C4025376|UMLS:C4280534	hp.json	Deficient maturation of hand bones	http://purl.obolibrary.org/obo/HP_0004274							
HP:0004275	biolink:PhenotypicFeature	Duplication of hand bones		UMLS:C3276746	hp.json	Duplication of hand bones	http://purl.obolibrary.org/obo/HP_0004275							
HP:0004276	biolink:PhenotypicFeature	Exostoses of hand bones	Abnormal formation of new bone on the surface of a bone of the hand.	UMLS:C4025375	hp.json		http://purl.obolibrary.org/obo/HP_0004276							
HP:0004277	biolink:PhenotypicFeature	Fractured hand bones		SNOMEDCT_US:20511007|UMLS:C0435632	hp.json	Broken hand bones|Fractured hand bones	http://purl.obolibrary.org/obo/HP_0004277							
HP:0004278	biolink:PhenotypicFeature	Synostosis involving bones of the hand	An abnormal union between bones or parts of bones of the hand.	UMLS:C4020831	hp.json	Fused hand bones	http://purl.obolibrary.org/obo/HP_0004278							
HP:0004279	biolink:PhenotypicFeature	Short palm	Short palm.	UMLS:C1843108	hp.json	Short palm|Short hands|Short palms|Hypoplastic hands	http://purl.obolibrary.org/obo/HP_0004279							
HP:0004280	biolink:PhenotypicFeature	Irregular ossification of hand bones		UMLS:C4025374	hp.json	Irregular maturation of hand bones	http://purl.obolibrary.org/obo/HP_0004280							
HP:0004281	biolink:PhenotypicFeature	Irregular sclerosis of hand bones		UMLS:C4025373	hp.json		http://purl.obolibrary.org/obo/HP_0004281							
HP:0004283	biolink:PhenotypicFeature	Narrow palm	For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.	UMLS:C1857632	hp.json	Narrow palm|Narrow hand|Narrow hands	http://purl.obolibrary.org/obo/HP_0004283							
HP:0004284	biolink:PhenotypicFeature	Notched hand bones		UMLS:C4025372	hp.json	Notched hand bones	http://purl.obolibrary.org/obo/HP_0004284							
HP:0004285	biolink:PhenotypicFeature	Overmodelled hand bones		UMLS:C4025371	hp.json		http://purl.obolibrary.org/obo/HP_0004285							
HP:0004286	biolink:PhenotypicFeature	Patchy sclerosis of hand bones		UMLS:C4025370	hp.json	Uneven increase in bone density in hand bones	http://purl.obolibrary.org/obo/HP_0004286							
HP:0004287	biolink:PhenotypicFeature	Pointed hand bones		UMLS:C4025369	hp.json	Pointed hand bones	http://purl.obolibrary.org/obo/HP_0004287							
HP:0004288	biolink:PhenotypicFeature	Pseudoepiphyses of hand bones		UMLS:C4025368	hp.json		http://purl.obolibrary.org/obo/HP_0004288							
HP:0004289	biolink:PhenotypicFeature	Sclerotic foci in hand bones		UMLS:C4025367	hp.json		http://purl.obolibrary.org/obo/HP_0004289							
HP:0004290	biolink:PhenotypicFeature	Sclerosis of hand bones with transverse striations		UMLS:C4025366	hp.json		http://purl.obolibrary.org/obo/HP_0004290							
HP:0004291	biolink:PhenotypicFeature	Stippled calcification of hand bones		UMLS:C4025365	hp.json		http://purl.obolibrary.org/obo/HP_0004291							
HP:0004292	biolink:PhenotypicFeature	Undermodelled hand bones		UMLS:C4025364	hp.json		http://purl.obolibrary.org/obo/HP_0004292							
HP:0004293	biolink:PhenotypicFeature	Synostosis of second metacarpal-trapezoid	Fusion of the second metacarpal-trapezoid.	UMLS:C4021665	hp.json	Fusion of second metacarpal-trapezoid	http://purl.obolibrary.org/obo/HP_0004293							
HP:0004294	biolink:PhenotypicFeature	Subluxation of metacarpal phalangeal joints	A partial dislocation affecting some or all of the metacarpophalangeal joints.	UMLS:C4025363	hp.json	Partial knuckle dislocation|Subluxation of metacarpophalangeal joints	http://purl.obolibrary.org/obo/HP_0004294							
HP:0004295	biolink:PhenotypicFeature	Abnormality of the gastric mucosa	An abnormality of the gastric mucous membrane.	UMLS:C4025362	hp.json	Abnormality of the mucous membrane layer of stomach	http://purl.obolibrary.org/obo/HP_0004295							
HP:0004296	biolink:PhenotypicFeature	Abnormality of gastrointestinal vasculature		UMLS:C4025361	hp.json	Abnormality of GI vasculature|Abnormality of GI blood vessels	http://purl.obolibrary.org/obo/HP_0004296							
HP:0004297	biolink:PhenotypicFeature	Abnormality of the biliary system	An abnormality of the biliary system.	UMLS:C0940767	hp.json		http://purl.obolibrary.org/obo/HP_0004297							
HP:0004298	biolink:PhenotypicFeature	Abnormality of the abdominal wall	The presence of any abnormality affecting the abdominal wall.	UMLS:C4021664	hp.json	Abnormality of the abdominal wall|Abnormality of external features of the abdomen	http://purl.obolibrary.org/obo/HP_0004298							hposlim_core
HP:0004299	biolink:PhenotypicFeature	Hernia of the abdominal wall	The presence of a hernia in the abdominal wall.	Fyler:4414|SNOMEDCT_US:128545000|UMLS:C1442978	hp.json	Herniated abdominal wall	http://purl.obolibrary.org/obo/HP_0004299							hposlim_core
HP:0004302	biolink:PhenotypicFeature	Functional motor deficit		UMLS:C4025360	hp.json	Functional motor problems	http://purl.obolibrary.org/obo/HP_0004302							
HP:0004303	biolink:PhenotypicFeature	Abnormal muscle fiber morphology	Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.	UMLS:C4021663	hp.json	Abnormal muscle fibre morphology|Abnormal skeletal muscle fibre morphology|Abnormality of muscle fibres|Abnormal skeletal muscle fiber morphology|Abnormality of muscle fibers	http://purl.obolibrary.org/obo/HP_0004303							
HP:0004305	biolink:PhenotypicFeature	Involuntary movements	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.	SNOMEDCT_US:102542000|UMLS:C0235086	hp.json	Involuntary movements|Involuntary muscle contractions	http://purl.obolibrary.org/obo/HP_0004305							
HP:0004306	biolink:PhenotypicFeature	Abnormal endocardium morphology	An abnormality of the endocardium.	UMLS:C4021662	hp.json	Abnormality of the endocardium|Abnormality of the endomycoardium	http://purl.obolibrary.org/obo/HP_0004306							
HP:0004307	biolink:PhenotypicFeature	Abnormal anatomic location of the heart	Developmental defect characterized by an anomalous anatomic location of the heart.	UMLS:C4025359	hp.json		http://purl.obolibrary.org/obo/HP_0004307							
HP:0004308	biolink:PhenotypicFeature	Ventricular arrhythmia		SNOMEDCT_US:44103008|UMLS:C0085612	hp.json	Ventricular arrhythmias	http://purl.obolibrary.org/obo/HP_0004308							
HP:0004309	biolink:PhenotypicFeature	Ventricular preexcitation	An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.	SNOMEDCT_US:195060002|UMLS:C0559106	hp.json	Pre-excitation syndrome|Preexcitation|Ventricular pre-excitation	http://purl.obolibrary.org/obo/HP_0004309							
HP:0004311	biolink:PhenotypicFeature	Abnormal macrophage morphology	An abnormality of macrophages.	UMLS:C4021661	hp.json	Abnormality of histiocytes|Abnormality of macrophages	http://purl.obolibrary.org/obo/HP_0004311							
HP:0004312	biolink:PhenotypicFeature	Abnormal reticulocyte morphology	A reticulocyte abnormality.	UMLS:C4025358	hp.json	Abnormality of reticulocytes	http://purl.obolibrary.org/obo/HP_0004312							
HP:0004313	biolink:PhenotypicFeature	Decreased circulating antibody level	An abnormally decreased level of immunoglobulin in blood.	MSH:D000361|SNOMEDCT_US:119250001|UMLS:C0086438|UMLS:C4048270	hp.json	Decreased antibody level in blood|Decreased immunoglobulin level|Decreased serum immunoglobulin|Hypogammaglobulinemia|Immunoglobulin deficiency|Reduced immunoglobulin levels	http://purl.obolibrary.org/obo/HP_0004313							
HP:0004315	biolink:PhenotypicFeature	Decreased circulating IgG level	An abnormally decreased level of immunoglobulin G (IgG) in blood.	MSH:D017099|SNOMEDCT_US:123785006|SNOMEDCT_US:190981001|UMLS:C0162539	hp.json	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							
HP:0004319	biolink:PhenotypicFeature	Decreased circulating aldosterone level	Abnormally reduced levels of aldosterone.	MSH:D006994|SNOMEDCT_US:60086000|UMLS:C0020595|UMLS:C0857899|UMLS:C1846226	hp.json	Low blood aldosterone level|Decreased aldosterone|Decreased aldosterone production|Decreased serum aldosterone|Hypoaldosteronism|Mineralocorticoid insufficiency	http://purl.obolibrary.org/obo/HP_0004319							
HP:0004320	biolink:PhenotypicFeature	Vaginal fistula	The presence of a fistula of the vagina.	MSH:D014624|SNOMEDCT_US:45135002|UMLS:C0042253	hp.json		http://purl.obolibrary.org/obo/HP_0004320							
HP:0004321	biolink:PhenotypicFeature	Bladder fistula	The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.	MSH:D001747|SNOMEDCT_US:68666001|UMLS:C0005690	hp.json		http://purl.obolibrary.org/obo/HP_0004321							
HP:0004322	biolink:PhenotypicFeature	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).	SNOMEDCT_US:237836003|UMLS:C0349588	hp.json	Decreased body height|Short stature|Small stature|Height less than 3rd percentile|Stature below 3rd percentile	http://purl.obolibrary.org/obo/HP_0004322							
HP:0004323	biolink:PhenotypicFeature	Abnormality of body weight	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.	UMLS:C0878621|UMLS:C4025357	hp.json	Abnormality of body weight|Abnormality of habitus	http://purl.obolibrary.org/obo/HP_0004323							
HP:0004324	biolink:PhenotypicFeature	Increased body weight	Abnormally increased body weight.	MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|SNOMEDCT_US:8943002|UMLS:C0043094	hp.json	Increased body weight|Weight gain	http://purl.obolibrary.org/obo/HP_0004324							
HP:0004325	biolink:PhenotypicFeature	Decreased body weight	Abnormally low body weight.	MSH:D013851|MSH:D015431|SNOMEDCT_US:161832001|SNOMEDCT_US:248342006|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|UMLS:C0041667|UMLS:C1262477|UMLS:C1844806	hp.json	Decreased body weight|Decreased weight|Low body weight|Low weight|Weight less than 3rd percentile	http://purl.obolibrary.org/obo/HP_0004325							
HP:0004326	biolink:PhenotypicFeature	Cachexia	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.	MSH:D002100|SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625	hp.json	Wasting syndrome	http://purl.obolibrary.org/obo/HP_0004326							
HP:0004327	biolink:PhenotypicFeature	Abnormal vitreous humor morphology	Any structural anomaly of the vitreous body.	UMLS:C4025356	hp.json	Abnormal vitreous humour morphology	http://purl.obolibrary.org/obo/HP_0004327							hposlim_core
HP:0004328	biolink:PhenotypicFeature	Abnormal anterior eye segment morphology	An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).	UMLS:C4025355	hp.json	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							
HP:0004329	biolink:PhenotypicFeature	Abnormal posterior eye segment morphology		UMLS:C4025354	hp.json	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	biolink:PhenotypicFeature	Increased skull ossification	An increase in the magnitude or amount of ossification of the skull.	SNOMEDCT_US:17401000119104|UMLS:C0020496|UMLS:C4072850|UMLS:C4072851	hp.json	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							hposlim_core
HP:0004331	biolink:PhenotypicFeature	Decreased skull ossification	A reduction in the magnitude or amount of ossification of the skull.	SNOMEDCT_US:253980008|UMLS:C0432073|UMLS:C4280533	hp.json	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							hposlim_core
HP:0004332	biolink:PhenotypicFeature	Abnormal lymphocyte morphology	An abnormality of lymphocytes.	SNOMEDCT_US:250284007|UMLS:C0427546	hp.json	Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage	http://purl.obolibrary.org/obo/HP_0004332							
HP:0004333	biolink:PhenotypicFeature	Bone-marrow foam cells	The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.	UMLS:C1856560	hp.json	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							
HP:0004334	biolink:PhenotypicFeature	Dermal atrophy	Partial or complete wasting (atrophy) of the skin.	MEDDRA:10040799|SNOMEDCT_US:399979006|SNOMEDCT_US:400190005|UMLS:C0151514	hp.json	Skin degeneration|Atrophic skin|Skin atrophy	http://purl.obolibrary.org/obo/HP_0004334							hposlim_core
HP:0004336	biolink:PhenotypicFeature	Myelin outfoldings	The presence of excessive redundant myelin in the peripheral nerve sheath.	UMLS:C1843168	hp.json	Excessive focal folding of myelin sheaths|Irregular myelin foldings	http://purl.obolibrary.org/obo/HP_0004336							
HP:0004337	biolink:PhenotypicFeature	Abnormality of amino acid metabolism	Abnormality of an amino acid metabolic process.	UMLS:C1328440	hp.json	Amino acid levels abnormal	http://purl.obolibrary.org/obo/HP_0004337							
HP:0004338	biolink:PhenotypicFeature	Abnormal circulating aromatic amino acid concentration	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.	UMLS:C4025352	hp.json	Abnormality of aromatic amino acid family metabolism	http://purl.obolibrary.org/obo/HP_0004338							
HP:0004339	biolink:PhenotypicFeature	Abnormal circulating sulfur amino acid concentration	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.	UMLS:C4021660	hp.json	Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids	http://purl.obolibrary.org/obo/HP_0004339							
HP:0004340	biolink:PhenotypicFeature	Abnormality of vitamin B metabolism		UMLS:C4021659	hp.json	Abnormality of B-vitamin metabolism	http://purl.obolibrary.org/obo/HP_0004340							
HP:0004341	biolink:PhenotypicFeature	Abnormality of vitamin B12 metabolism		UMLS:C4021658	hp.json	Abnormality of the vitamin B12 metabolism	http://purl.obolibrary.org/obo/HP_0004341							
HP:0004342	biolink:PhenotypicFeature	Abnormality of galactoside metabolism	Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.	UMLS:C4025351	hp.json		http://purl.obolibrary.org/obo/HP_0004342							
HP:0004343	biolink:PhenotypicFeature	Abnormal glycosphingolipid metabolism	An abnormality of glycosphingolipid metabolism.	UMLS:C4025350	hp.json	Abnormality of glycosphingolipid metabolism	http://purl.obolibrary.org/obo/HP_0004343							
HP:0004344	biolink:PhenotypicFeature	Abnormality of cerebrosidase metabolism		UMLS:C4025349	hp.json		http://purl.obolibrary.org/obo/HP_0004344							
HP:0004345	biolink:PhenotypicFeature	Ganglioside accumulation	Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).	UMLS:C4025348	hp.json		http://purl.obolibrary.org/obo/HP_0004345							
HP:0004347	biolink:PhenotypicFeature	Weakness of muscles of respiration	Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.	UMLS:C4025347	hp.json		http://purl.obolibrary.org/obo/HP_0004347							
HP:0004348	biolink:PhenotypicFeature	Abnormality of bone mineral density	This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.	UMLS:C4021657	hp.json	Abnormality of bone mineralisation and ossification	http://purl.obolibrary.org/obo/HP_0004348							
HP:0004349	biolink:PhenotypicFeature	Reduced bone mineral density	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.	UMLS:C2674432	hp.json	Low solidness and mass of the bones|Decreased bone mineral density|Decreased bone mineral density Z score	http://purl.obolibrary.org/obo/HP_0004349							
HP:0004352	biolink:PhenotypicFeature	Abnormal circulating purine concentration	Any deviation from the normal concentration of a purine in the blood circulation.	UMLS:C4025346	hp.json	Abnormal circulating purine level	http://purl.obolibrary.org/obo/HP_0004352							
HP:0004353	biolink:PhenotypicFeature	Abnormal circulating pyrimidine concentration	Any deviation from the normal concentration of a pyrimidine in the blood circulation.	UMLS:C4025345	hp.json		http://purl.obolibrary.org/obo/HP_0004353							
HP:0004354	biolink:PhenotypicFeature	Abnormal circulating carboxylic acid concentration	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.	UMLS:C4025344	hp.json		http://purl.obolibrary.org/obo/HP_0004354							
HP:0004355	biolink:PhenotypicFeature	obsolete Abnormality of proteoglycan metabolism			hp.json		http://purl.obolibrary.org/obo/HP_0004355							
HP:0004356	biolink:PhenotypicFeature	Abnormality of lysosomal metabolism		UMLS:C4025342	hp.json		http://purl.obolibrary.org/obo/HP_0004356							
HP:0004357	biolink:PhenotypicFeature	Abnormal circulating leucine concentration	Any deviation from the normal circulation of leucine in the blood circulation.	UMLS:C4025341	hp.json		http://purl.obolibrary.org/obo/HP_0004357							
HP:0004358	biolink:PhenotypicFeature	Abnormality of superoxide metabolism		UMLS:C4025340	hp.json		http://purl.obolibrary.org/obo/HP_0004358							
HP:0004359	biolink:PhenotypicFeature	Abnormal circulating fatty-acid concentration	A deviation from the normal concentration of a fatty acid in the blood circulation.	UMLS:C4020830|UMLS:C4021656	hp.json	Abnormality of fatty acid metabolism|Fatty acids abnormal	http://purl.obolibrary.org/obo/HP_0004359							
HP:0004360	biolink:PhenotypicFeature	Abnormality of acid-base homeostasis	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.	MSH:D000137|UMLS:C0001118	hp.json	Acid base imbalance	http://purl.obolibrary.org/obo/HP_0004360							
HP:0004361	biolink:PhenotypicFeature	Abnormality of circulating leptin level	An abnormal concentration of leptin in the blood.	UMLS:C4025339	hp.json		http://purl.obolibrary.org/obo/HP_0004361							
HP:0004362	biolink:PhenotypicFeature	Abnormality of enteric ganglion morphology	An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.	UMLS:C4025338	hp.json	Abnormality of the enteric ganglia	http://purl.obolibrary.org/obo/HP_0004362							
HP:0004363	biolink:PhenotypicFeature	Abnormal circulating calcium concentration	Any deviation from the normal concentration of calcium in the blood circulation.		hp.json	Abnormal circulating Ca concentration|Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal blood calcium concentration	http://purl.obolibrary.org/obo/HP_0004363							
HP:0004364	biolink:PhenotypicFeature	Abnormal circulating nitrogen compound concentration	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.	UMLS:C4025336	hp.json		http://purl.obolibrary.org/obo/HP_0004364							
HP:0004365	biolink:PhenotypicFeature	Abnormal circulating tryptophan concentration	Any deviation from the normal concentration of tryptophan in the blood circulation.	UMLS:C4025335	hp.json	Abnormality of tryptophan metabolism	http://purl.obolibrary.org/obo/HP_0004365							
HP:0004366	biolink:PhenotypicFeature	Abnormality of glycolysis	An abnormality of glycolysis.	UMLS:C4025334	hp.json		http://purl.obolibrary.org/obo/HP_0004366							
HP:0004367	biolink:PhenotypicFeature	obsolete Abnormality of glycoprotein metabolism			hp.json		http://purl.obolibrary.org/obo/HP_0004367							
HP:0004368	biolink:PhenotypicFeature	Increased circulating purine concentration	Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.	UMLS:C4025332	hp.json	Increased purine levels|Increased purine level	http://purl.obolibrary.org/obo/HP_0004368							
HP:0004369	biolink:PhenotypicFeature	Decreased circulating purine concentration	Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.	UMLS:C4025331	hp.json	Decreased purine levels|Decreased purine level	http://purl.obolibrary.org/obo/HP_0004369							
HP:0004370	biolink:PhenotypicFeature	Abnormality of temperature regulation	An abnormality of temperature homeostasis.	MSH:D001832|UMLS:C0005904|UMLS:C1832160	hp.json	Abnormality of temperature regulation|Poor temperature regulation|Body temperature changes	http://purl.obolibrary.org/obo/HP_0004370							
HP:0004371	biolink:PhenotypicFeature	Abnormality of glycosaminoglycan metabolism	Abnormality of glycosaminoglycan metabolism.	UMLS:C4025330	hp.json		http://purl.obolibrary.org/obo/HP_0004371							
HP:0004372	biolink:PhenotypicFeature	Reduced consciousness/confusion		SNOMEDCT_US:3006004|UMLS:C0234428	hp.json	Disturbances of consciousness|Lowered consciousness|Reduced consciousness/confusion	http://purl.obolibrary.org/obo/HP_0004372							
HP:0004373	biolink:PhenotypicFeature	Focal dystonia	A type of dystonia that is localized to a specific part of the body.	MSH:D020821|SNOMEDCT_US:445006008|UMLS:C0743332	hp.json		http://purl.obolibrary.org/obo/HP_0004373							
HP:0004374	biolink:PhenotypicFeature	Hemiplegia/hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.	UMLS:C0375206	hp.json	Paralysis or weakness of one side of body	http://purl.obolibrary.org/obo/HP_0004374							
HP:0004375	biolink:PhenotypicFeature	Neoplasm of the nervous system	A tumor (abnormal growth of tissue) of the nervous system.	MSH:D009423|NCIT:C3262|SNOMEDCT_US:126950007|UMLS:C0027766	hp.json	Tumor of the nervous system|Tumour of the nervous system|Nervous system cancer|Neoplasia of the nervous system	http://purl.obolibrary.org/obo/HP_0004375							
HP:0004376	biolink:PhenotypicFeature	Neuroblastic tumor	A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.	UMLS:C1334953	hp.json	Neuroblastic tumour	http://purl.obolibrary.org/obo/HP_0004376							
HP:0004377	biolink:PhenotypicFeature	Hematological neoplasm	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).	MSH:D019337|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545	hp.json	Blood tumor|Blood tumour|Haematological neoplasm	http://purl.obolibrary.org/obo/HP_0004377							
HP:0004378	biolink:PhenotypicFeature	Abnormality of the anus	Abnormality of the anal canal.	UMLS:C4025329	hp.json	Abnormality of the anus	http://purl.obolibrary.org/obo/HP_0004378							
HP:0004379	biolink:PhenotypicFeature	Abnormality of alkaline phosphatase level	An abnormality of alkaline phosphatase level.	UMLS:C4020829|UMLS:C4025328	hp.json	Abnormality of ALP level|Abnormality of alkaline phosphatase activity|Alkaline phosphatase abnormal	http://purl.obolibrary.org/obo/HP_0004379							
HP:0004380	biolink:PhenotypicFeature	Aortic valve calcification	Deposition of calcium salts in the aortic valve.	MSH:C562942|SNOMEDCT_US:250978003|UMLS:C0428791	hp.json		http://purl.obolibrary.org/obo/HP_0004380							
HP:0004381	biolink:PhenotypicFeature	Supravalvular aortic stenosis	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.	Fyler:1430|MSH:D021921|SNOMEDCT_US:268185002|UMLS:C0003499	hp.json		http://purl.obolibrary.org/obo/HP_0004381							
HP:0004382	biolink:PhenotypicFeature	Mitral valve calcification	Abnormal calcification of the mitral valve.	SNOMEDCT_US:473372009|UMLS:C0919718	hp.json		http://purl.obolibrary.org/obo/HP_0004382							
HP:0004383	biolink:PhenotypicFeature	Hypoplastic left heart	Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.	MSH:D018636|SNOMEDCT_US:62067003|UMLS:C0152101	hp.json	Underdeveloped left heart|Heart left ventricle hypoplasia|Left ventricular hypoplasia	http://purl.obolibrary.org/obo/HP_0004383							
HP:0004384	biolink:PhenotypicFeature	Type I truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.	Fyler:0510|Fyler:510|UMLS:C1834934	hp.json	Persistent truncus arteriosus type I|Type 1 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0004384							
HP:0004385	biolink:PhenotypicFeature	Protracted diarrhea		SNOMEDCT_US:236077008|UMLS:C0473133	hp.json	Protracted diarrhoea	http://purl.obolibrary.org/obo/HP_0004385							
HP:0004386	biolink:PhenotypicFeature	Gastrointestinal inflammation	Inflammation of the alimentary part of the gastrointestinal system.	UMLS:C1535950	hp.json	GI inflammation|Gastrointestinal inflammation	http://purl.obolibrary.org/obo/HP_0004386							
HP:0004387	biolink:PhenotypicFeature	Enterocolitis	An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).	MSH:D004760|SNOMEDCT_US:43752006|UMLS:C0014356	hp.json		http://purl.obolibrary.org/obo/HP_0004387							
HP:0004388	biolink:PhenotypicFeature	Microcolon	A colon of abnormally small caliber.	MSH:C562563|SNOMEDCT_US:18389004|UMLS:C0266200|UMLS:C3553395	hp.json	Microcolon on contrast enema	http://purl.obolibrary.org/obo/HP_0004388							
HP:0004389	biolink:PhenotypicFeature	Intestinal pseudo-obstruction	A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.	MSH:D007418|SNOMEDCT_US:235825006|SNOMEDCT_US:715201005|UMLS:C0021847	hp.json	Intestinal pseudoobstruction	http://purl.obolibrary.org/obo/HP_0004389							
HP:0004390	biolink:PhenotypicFeature	Hamartomatous polyposis	Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.	SNOMEDCT_US:27391005|UMLS:C0334092|UMLS:C3277418	hp.json	Gastrointestinal hamartoma|Hamartomatous polyps|Gastrointestinal hamartomatous polyps	http://purl.obolibrary.org/obo/HP_0004390							
HP:0004392	biolink:PhenotypicFeature	Prune belly	A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.	MSH:D011535|SNOMEDCT_US:5187006|UMLS:C0033770	hp.json	Prune belly	http://purl.obolibrary.org/obo/HP_0004392							
HP:0004394	biolink:PhenotypicFeature	Multiple gastric polyps		MSH:C562464|SNOMEDCT_US:78809005|SNOMEDCT_US:87252009|UMLS:C0236048	hp.json		http://purl.obolibrary.org/obo/HP_0004394							
HP:0004395	biolink:PhenotypicFeature	Malnutrition	A deficiency in the intake of energy and nutrients.	MSH:D044342|SNOMEDCT_US:248325000|SNOMEDCT_US:2492009|SNOMEDCT_US:47563007|SNOMEDCT_US:65404009|SNOMEDCT_US:70241007|UMLS:C0162429	hp.json	Malnutrition	http://purl.obolibrary.org/obo/HP_0004395							
HP:0004396	biolink:PhenotypicFeature	Poor appetite	A reduced desire to eat.	SNOMEDCT_US:64379006|UMLS:C0232462	hp.json	Decreased appetite|Poor appetite|No appetite|Loss of appetite	http://purl.obolibrary.org/obo/HP_0004396							
HP:0004397	biolink:PhenotypicFeature	Ectopic anus	Abnormal displacement or malposition of the anus.	SNOMEDCT_US:5153001|UMLS:C0266231	hp.json	Abnormal anus position|Anus malposition	http://purl.obolibrary.org/obo/HP_0004397							hposlim_core
HP:0004398	biolink:PhenotypicFeature	Peptic ulcer	An ulcer of the gastrointestinal tract.	MSH:D010437|SNOMEDCT_US:13200003|UMLS:C0030920	hp.json	Sore in the lining of gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0004398							
HP:0004399	biolink:PhenotypicFeature	Congenital pyloric atresia	Congenital atresia of the pylorus.	UMLS:C4025327	hp.json		http://purl.obolibrary.org/obo/HP_0004399							hposlim_core
HP:0004400	biolink:PhenotypicFeature	Abnormality of the pylorus	An abnormality of the pylorus.	UMLS:C4025326	hp.json		http://purl.obolibrary.org/obo/HP_0004400							
HP:0004401	biolink:PhenotypicFeature	Meconium ileus	Obstruction of the intestine due to abnormally thick meconium.	SNOMEDCT_US:206523001|SNOMEDCT_US:233662009|SNOMEDCT_US:86092005|UMLS:C0398349|UMLS:C2939175|UMLS:C3553397	hp.json	Meconium ileus in neonates|Distal intestinal obstruction syndrome|Meconium ileus on ultrasonography	http://purl.obolibrary.org/obo/HP_0004401							
HP:0004403	biolink:PhenotypicFeature	Proximal esophageal atresia		UMLS:C4025325	hp.json		http://purl.obolibrary.org/obo/HP_0004403							
HP:0004404	biolink:PhenotypicFeature	Abnormal nipple morphology	An abnormality of the nipple.	SNOMEDCT_US:700153004|UMLS:C3839073	hp.json	Abnormality of the nipple	http://purl.obolibrary.org/obo/HP_0004404							hposlim_core
HP:0004405	biolink:PhenotypicFeature	Prominent nipples		UMLS:C1855513	hp.json	Prominent nipples	http://purl.obolibrary.org/obo/HP_0004405							hposlim_core
HP:0004406	biolink:PhenotypicFeature	Spontaneous, recurrent epistaxis		UMLS:C3809715	hp.json	Recurring nosebleed|Spontaneous, recurrent nosebleed|Recurrent epistaxes|Recurrent epistaxis	http://purl.obolibrary.org/obo/HP_0004406							
HP:0004407	biolink:PhenotypicFeature	Bony paranasal bossing		UMLS:C1857499	hp.json		http://purl.obolibrary.org/obo/HP_0004407							
HP:0004408	biolink:PhenotypicFeature	Abnormality of the sense of smell	An anomaly in the ability to perceive and distinguish scents (odors).	UMLS:C4021655	hp.json	Abnormal sense of smell|Abnormality of the sense of smell|Smell defect|Abnormality of olfaction	http://purl.obolibrary.org/obo/HP_0004408							hposlim_core
HP:0004409	biolink:PhenotypicFeature	Hyposmia	A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).	SNOMEDCT_US:83156004|UMLS:C2364082	hp.json	Decreased smell sensation|Sense of smell impaired	http://purl.obolibrary.org/obo/HP_0004409							hposlim_core
HP:0004411	biolink:PhenotypicFeature	Deviated nasal septum	Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.	SNOMEDCT_US:126660000|UMLS:C0549397	hp.json	Crooked nasal septum|Crooked septum of nose|Deviated nasal septum|Deviated septum of nose	http://purl.obolibrary.org/obo/HP_0004411							hposlim_core
HP:0004414	biolink:PhenotypicFeature	Abnormality of the pulmonary artery	An abnormality of the pulmonary artery.	SNOMEDCT_US:128588008|SNOMEDCT_US:198914002|SNOMEDCT_US:36110001|UMLS:C0009681	hp.json	Abnormality of lung artery	http://purl.obolibrary.org/obo/HP_0004414							
HP:0004415	biolink:PhenotypicFeature	Pulmonary artery stenosis	An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	Fyler:1622|MSH:D000071079|SNOMEDCT_US:95441000|UMLS:C0238397	hp.json	Narrowing of lung artery	http://purl.obolibrary.org/obo/HP_0004415							
HP:0004416	biolink:PhenotypicFeature	Precocious atherosclerosis		UMLS:C4021654|UMLS:C4280264	hp.json	Premature plaque build-up in arteries|Premature atherosclerosis	http://purl.obolibrary.org/obo/HP_0004416							
HP:0004417	biolink:PhenotypicFeature	Intermittent claudication	Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.	MSH:D007383|SNOMEDCT_US:63491006|UMLS:C0021775	hp.json		http://purl.obolibrary.org/obo/HP_0004417							
HP:0004418	biolink:PhenotypicFeature	Thrombophlebitis	Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).	MSH:D013924|SNOMEDCT_US:64156001|UMLS:C0040046	hp.json		http://purl.obolibrary.org/obo/HP_0004418							
HP:0004419	biolink:PhenotypicFeature	Recurrent thrombophlebitis	Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).	UMLS:C3550150	hp.json	Recurrent phlebitis|Recurrent thrombosis	http://purl.obolibrary.org/obo/HP_0004419							
HP:0004420	biolink:PhenotypicFeature	Arterial thrombosis	The formation of a blood clot inside an artery.	SNOMEDCT_US:65198009|UMLS:C0151942	hp.json	Blood clot in artery	http://purl.obolibrary.org/obo/HP_0004420							
HP:0004421	biolink:PhenotypicFeature	Elevated systolic blood pressure	Abnormal increase in systolic blood pressure.	UMLS:C1840374	hp.json	Elevated systolic BP	http://purl.obolibrary.org/obo/HP_0004421							
HP:0004422	biolink:PhenotypicFeature	Biparietal narrowing	A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).	UMLS:C1854418|UMLS:C4280532	hp.json	Decreased width of the skull	http://purl.obolibrary.org/obo/HP_0004422							
HP:0004423	biolink:PhenotypicFeature	Cranium bifidum occultum		MSH:C566826|SNOMEDCT_US:718099006|UMLS:C1868598	hp.json		http://purl.obolibrary.org/obo/HP_0004423							
HP:0004425	biolink:PhenotypicFeature	Flat forehead	A forehead with abnormal flatness.	UMLS:C1857485	hp.json	Flat forehead|Flattened forehead|Frontal flattening	http://purl.obolibrary.org/obo/HP_0004425							
HP:0004426	biolink:PhenotypicFeature	Abnormality of the cheek	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	UMLS:C4025324	hp.json	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							
HP:0004428	biolink:PhenotypicFeature	Elfin facies	This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.	SNOMEDCT_US:69288002|UMLS:C0332606	hp.json	Elf-like facial appearance|Elf-like facial features|Leprechaun facies	http://purl.obolibrary.org/obo/HP_0004428							hposlim_core
HP:0004429	biolink:PhenotypicFeature	Recurrent viral infections	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.	UMLS:C1837066	hp.json		http://purl.obolibrary.org/obo/HP_0004429							
HP:0004430	biolink:PhenotypicFeature	Severe combined immunodeficiency	A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.	MSH:D016511|SNOMEDCT_US:31323000|UMLS:C0085110	hp.json	Immunodeficiency, severe combined	http://purl.obolibrary.org/obo/HP_0004430							
HP:0004431	biolink:PhenotypicFeature	Complement deficiency	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.	SNOMEDCT_US:24743004|UMLS:C0272242	hp.json		http://purl.obolibrary.org/obo/HP_0004431							
HP:0004432	biolink:PhenotypicFeature	Agammaglobulinemia	A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.	MSH:D000361|SNOMEDCT_US:119249001|UMLS:C0001768	hp.json	Agammaglobulinaemia	http://purl.obolibrary.org/obo/HP_0004432							
HP:0004433	biolink:PhenotypicFeature	Secretory IgA deficiency	Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.	MSH:C562869|SNOMEDCT_US:234554004|UMLS:C0398709	hp.json		http://purl.obolibrary.org/obo/HP_0004433							
HP:0004434	biolink:PhenotypicFeature	Decreased serum complement C8	A reduced level of the complement component C8 in circulation.	UMLS:C3151082	hp.json	C8 deficiency	http://purl.obolibrary.org/obo/HP_0004434							
HP:0004437	biolink:PhenotypicFeature	Cranial hyperostosis	Excessive growth of the bones of cranium, i.e., of the skull.	UMLS:C1832451|UMLS:C4280528|UMLS:C4280529|UMLS:C4280530|UMLS:C4280531	hp.json	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							
HP:0004438	biolink:PhenotypicFeature	Hyperostosis frontalis interna	Bony overgrowth of the internal (endosteal) surface of the frontal bone.	MSH:D006957|SNOMEDCT_US:82054006|UMLS:C0020494|UMLS:C4280524|UMLS:C4280525|UMLS:C4280526|UMLS:C4280527	hp.json	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							
HP:0004439	biolink:PhenotypicFeature	Craniofacial dysostosis	A characteristic appearance resulting from defective ossification of craniofacial bones.	MSH:D003394|SNOMEDCT_US:28861008|UMLS:C0010273	hp.json	Crouzon syndrome	http://purl.obolibrary.org/obo/HP_0004439							
HP:0004440	biolink:PhenotypicFeature	Coronal craniosynostosis	Premature closure of the coronal suture of skull.	UMLS:C1856266	hp.json	Coronal suture craniosynostosis|Coronal suture synostosis|Craniosynostosis of coronal suture	http://purl.obolibrary.org/obo/HP_0004440							hposlim_core
HP:0004442	biolink:PhenotypicFeature	Sagittal craniosynostosis	A kind of craniosynostosis affecting the sagittal suture.	SNOMEDCT_US:109418001|UMLS:C0432123	hp.json	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							hposlim_core
HP:0004443	biolink:PhenotypicFeature	Lambdoidal craniosynostosis	A kind of craniosynostosis affecting the lambdoidal suture.	MSH:D003398|SNOMEDCT_US:109417006|UMLS:C1833340	hp.json	Lambdoid suture craniosynostosis|Lambdoid suture synostosis	http://purl.obolibrary.org/obo/HP_0004443							hposlim_core
HP:0004444	biolink:PhenotypicFeature	Spherocytosis	The presence of erythrocytes that are sphere-shaped.	SNOMEDCT_US:17235000|UMLS:C0553720	hp.json		http://purl.obolibrary.org/obo/HP_0004444							
HP:0004445	biolink:PhenotypicFeature	Elliptocytosis	The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.	MSH:D004612|SNOMEDCT_US:178935009|SNOMEDCT_US:191169008|SNOMEDCT_US:250242004|UMLS:C0013902|UMLS:C0427480	hp.json	Ovalocytes|Ovalocytosis|Elliptocyte|Hereditary elliptocytosis	http://purl.obolibrary.org/obo/HP_0004445							
HP:0004446	biolink:PhenotypicFeature	Stomatocytosis	The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.	UMLS:C0677598	hp.json	Red cell stomatocytosis|erythrocyte stomatocytes	http://purl.obolibrary.org/obo/HP_0004446							
HP:0004447	biolink:PhenotypicFeature	Poikilocytosis	The presence of abnormally shaped erythrocytes.	SNOMEDCT_US:165479004|UMLS:C0221281	hp.json		http://purl.obolibrary.org/obo/HP_0004447							
HP:0004448	biolink:PhenotypicFeature	Fulminant hepatic failure	Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.	MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557	hp.json		http://purl.obolibrary.org/obo/HP_0004448							
HP:0004450	biolink:PhenotypicFeature	Preauricular skin furrow	A groove of the skin immediately in front of the ear.	UMLS:C1852411	hp.json	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							
HP:0004451	biolink:PhenotypicFeature	Postauricular skin tag	A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).	UMLS:C4025323	hp.json	Skin tag behind the ear|Postauricular acrochordon|Postauricular fibroepithelial polyp	http://purl.obolibrary.org/obo/HP_0004451							
HP:0004452	biolink:PhenotypicFeature	Abnormality of the middle ear ossicles	An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).	UMLS:C1836678	hp.json	Malformed ossicles|Ossicular malformation	http://purl.obolibrary.org/obo/HP_0004452							hposlim_core
HP:0004453	biolink:PhenotypicFeature	Overfolding of the superior helices	A condition in which the superior portion of the helix is folded over to a greater degree than normal.	UMLS:C1865304	hp.json	Overfolding of superior helix	http://purl.obolibrary.org/obo/HP_0004453							
HP:0004454	biolink:PhenotypicFeature	Abnormal middle ear reflexes		UMLS:C1970887	hp.json		http://purl.obolibrary.org/obo/HP_0004454							
HP:0004458	biolink:PhenotypicFeature	Dilatated internal auditory canal	The presence of a dilated inner part of external acoustic meatus.	UMLS:C2676973	hp.json	Bulbous internal auditory canal|Enlarged internal auditory canal	http://purl.obolibrary.org/obo/HP_0004458							
HP:0004459	biolink:PhenotypicFeature	Exostosis of the external auditory canal	A benign bony growth projecting outward from a bone surface within the external auditory canal.	SNOMEDCT_US:19560007|UMLS:C0155411	hp.json	External auditory canal exostoses	http://purl.obolibrary.org/obo/HP_0004459							
HP:0004461	biolink:PhenotypicFeature	Congenital earlobe sinuses	Pits in the earlobes at the location where ears are typically pierced for earrings.	UMLS:C1969394	hp.json		http://purl.obolibrary.org/obo/HP_0004461							
HP:0004463	biolink:PhenotypicFeature	Absent brainstem auditory responses	Lack of measurable response to stimulation of auditory evoked potentials.	UMLS:C1836742	hp.json	No auditory brainstem response	http://purl.obolibrary.org/obo/HP_0004463							
HP:0004464	biolink:PhenotypicFeature	Postauricular pit	Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.	SNOMEDCT_US:43887004|UMLS:C0395905	hp.json	Pit behind the ear|Postauricular earpits|Postauricular fistula|Posterior auricular pit|Posterior auricular sinus	http://purl.obolibrary.org/obo/HP_0004464							hposlim_core
HP:0004466	biolink:PhenotypicFeature	Prolonged brainstem auditory evoked potentials		UMLS:C4025322	hp.json		http://purl.obolibrary.org/obo/HP_0004466							
HP:0004467	biolink:PhenotypicFeature	Preauricular pit	Small indentation anterior to the insertion of the ear.	MSH:C563015|SNOMEDCT_US:1955003|SNOMEDCT_US:204271000|SNOMEDCT_US:204272007|UMLS:C0266610|UMLS:C0266625|UMLS:C0546969	hp.json	Pit in front of the ear|Ear pit|Preauricular earpits|Preauricular fistulas|Preauricular pits|Preauricular sinus	http://purl.obolibrary.org/obo/HP_0004467							
HP:0004468	biolink:PhenotypicFeature	Anomalous tracheal cartilage	An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).	UMLS:C1863406	hp.json	Abnormal tracheal cartilaginous ring	http://purl.obolibrary.org/obo/HP_0004468							
HP:0004469	biolink:PhenotypicFeature	Chronic bronchitis	Chronic inflammation of the bronchi.	MSH:D029481|SNOMEDCT_US:63480004|UMLS:C0008677	hp.json		http://purl.obolibrary.org/obo/HP_0004469							
HP:0004470	biolink:PhenotypicFeature	Atretic occipital cephalocele	A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.	UMLS:C1836600	hp.json		http://purl.obolibrary.org/obo/HP_0004470							
HP:0004471	biolink:PhenotypicFeature	Aplasia cutis congenita over the scalp vertex	A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.	UMLS:C1970112	hp.json	Absent cutis congenita of vertex|Aplasia cutis congenita of vertex	http://purl.obolibrary.org/obo/HP_0004471							
HP:0004472	biolink:PhenotypicFeature	Mandibular hyperostosis	Hyperostosis (bony overgrowth) of the mandible.	UMLS:C4025321|UMLS:C4280521|UMLS:C4280522|UMLS:C4280523	hp.json	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							
HP:0004474	biolink:PhenotypicFeature	Persistent open anterior fontanelle	The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.	UMLS:C1849537	hp.json	Front fontanelle stays open|Persistent, open anterior fontanel|Anterior fontanelle open in adults	http://purl.obolibrary.org/obo/HP_0004474							
HP:0004476	biolink:PhenotypicFeature	Aplasia cutis congenita over parietal area	A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.	UMLS:C1863492	hp.json	Absent cutis congenita over parietal area	http://purl.obolibrary.org/obo/HP_0004476							
HP:0004478	biolink:PhenotypicFeature	Ethmoidal encephalocele		UMLS:C1843495	hp.json		http://purl.obolibrary.org/obo/HP_0004478							
HP:0004481	biolink:PhenotypicFeature	Progressive macrocephaly	The progressive development of an abnormally large skull.	UMLS:C1859896	hp.json	Progressively abnormally enlarging cranium|Progressively abnormally enlarging skull|Macrocephaly, progressive	http://purl.obolibrary.org/obo/HP_0004481							
HP:0004482	biolink:PhenotypicFeature	Relative macrocephaly	A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.	SNOMEDCT_US:3961000119101|UMLS:C1849075	hp.json	Relatively large head|Disproportionately large head|Macrocephaly, relative	http://purl.obolibrary.org/obo/HP_0004482							
HP:0004484	biolink:PhenotypicFeature	Craniofacial asymmetry	Asymmetry of the bones of the skull and the face.	UMLS:C4025320	hp.json	Abnormality of craniofacial shape|Malformation of craniofacial shape|Uneven craniofacial structures	http://purl.obolibrary.org/obo/HP_0004484							
HP:0004485	biolink:PhenotypicFeature	Cessation of head growth	Stagnation of head growth seen as flattening of the head circumference curve.	UMLS:C4025319	hp.json	Skull stopped growing|Head stopped growing|Cranium stopped growing	http://purl.obolibrary.org/obo/HP_0004485							
HP:0004487	biolink:PhenotypicFeature	Acrobrachycephaly	An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.	SNOMEDCT_US:711039004|UMLS:C1863395	hp.json		http://purl.obolibrary.org/obo/HP_0004487							
HP:0004488	biolink:PhenotypicFeature	Macrocephaly at birth	The presence of an abnormally large skull with onset at birth.	UMLS:C1836599	hp.json	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							hposlim_core
HP:0004490	biolink:PhenotypicFeature	Calvarial hyperostosis	Excessive growth of the calvaria.	MSH:C537963|UMLS:C1863351|UMLS:C4280519|UMLS:C4280520	hp.json	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							
HP:0004491	biolink:PhenotypicFeature	Large posterior fontanelle	An enlargement of the posterior fontanelle relative to age-dependent norms.	UMLS:C1855233	hp.json	Large posterior fontanel	http://purl.obolibrary.org/obo/HP_0004491							
HP:0004492	biolink:PhenotypicFeature	Widely patent fontanelles and sutures	An abnormally increased width of the cranial fontanelles and sutures.	UMLS:C1849300	hp.json	Widely patent fontanels and sutures	http://purl.obolibrary.org/obo/HP_0004492							
HP:0004493	biolink:PhenotypicFeature	Craniofacial hyperostosis	Excessive growth of the craniofacial bones.	UMLS:C1868085|UMLS:C4280516|UMLS:C4280517|UMLS:C4280518	hp.json	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							hposlim_core
HP:0004495	biolink:PhenotypicFeature	Thin anteverted nares		UMLS:C1834056	hp.json		http://purl.obolibrary.org/obo/HP_0004495							
HP:0004496	biolink:PhenotypicFeature	Posterior choanal atresia	Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).	MSH:C562435|UMLS:C0220723	hp.json		http://purl.obolibrary.org/obo/HP_0004496							
HP:0004499	biolink:PhenotypicFeature	Chronic rhinitis due to narrow nasal airway		UMLS:C4025318	hp.json	Chronic nasal inflammation due to narrow nasal airway	http://purl.obolibrary.org/obo/HP_0004499							
HP:0004502	biolink:PhenotypicFeature	Bilateral choanal atresia	Bilateral absence (atresia) of the posterior nasal aperture (choana).	UMLS:C4025317	hp.json	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							
HP:0004510	biolink:PhenotypicFeature	Pancreatic islet-cell hyperplasia	Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.	UMLS:C0597167	hp.json	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							
HP:0004523	biolink:PhenotypicFeature	Long eyebrows	Increased length of the hairs of the eyebrows.	UMLS:C3280131	hp.json	Elongated eyebrow|Increased horizontal length of eyebrow|Increased transverse length of eyebrow|Long eyebrows	http://purl.obolibrary.org/obo/HP_0004523							
HP:0004524	biolink:PhenotypicFeature	Temporal hypotrichosis	Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).	UMLS:C4025316	hp.json	Reduced hair growth in temporal region	http://purl.obolibrary.org/obo/HP_0004524							
HP:0004527	biolink:PhenotypicFeature	Large clumps of pigment irregularly distributed along hair shaft		UMLS:C4025315	hp.json	Large clumps of pigment irregularly distributed along hair shaft	http://purl.obolibrary.org/obo/HP_0004527							
HP:0004528	biolink:PhenotypicFeature	Generalized hypotrichosis	Reduced or lacking hair growth in a generalized distribution.	UMLS:C4021653	hp.json	Generalised hypotrichosis|Hypotrichosis, generalised|Hypotrichosis, generalized	http://purl.obolibrary.org/obo/HP_0004528							
HP:0004529	biolink:PhenotypicFeature	Atrophic, patchy alopecia		UMLS:C4025314	hp.json		http://purl.obolibrary.org/obo/HP_0004529							
HP:0004532	biolink:PhenotypicFeature	Sacral hypertrichosis	Excessive, increased hair growth located in the sacral region.	UMLS:C4025313	hp.json		http://purl.obolibrary.org/obo/HP_0004532							
HP:0004535	biolink:PhenotypicFeature	Anterior cervical hypertrichosis	Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.	MSH:C538390|UMLS:C1838123	hp.json	Congenital cervical hypertrichosis|Hypertrichosis, congenital anterior cervical	http://purl.obolibrary.org/obo/HP_0004535							
HP:0004540	biolink:PhenotypicFeature	Congenital, generalized hypertrichosis	A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.	MSH:C538388|UMLS:C1855900	hp.json	Congenital generalised hypertrichosis|Congenital, generalised hypertrichosis|Congenital generalized hypertrichosis|Hypertrichosis universalis	http://purl.obolibrary.org/obo/HP_0004540							
HP:0004544	biolink:PhenotypicFeature	obsolete Pointed frontal hairline			hp.json		http://purl.obolibrary.org/obo/HP_0004544							
HP:0004552	biolink:PhenotypicFeature	Scarring alopecia of scalp		UMLS:C3806301	hp.json	Hair loss on scalp from scarring condition|Cicatricial alopecia	http://purl.obolibrary.org/obo/HP_0004552							
HP:0004554	biolink:PhenotypicFeature	Generalized hypertrichosis	Generalized excessive, abnormal hairiness.	UMLS:C3277940	hp.json	Generalised hypertrichosis	http://purl.obolibrary.org/obo/HP_0004554							
HP:0004557	biolink:PhenotypicFeature	Anterior vertebral fusion		UMLS:C1969393	hp.json		http://purl.obolibrary.org/obo/HP_0004557							
HP:0004558	biolink:PhenotypicFeature	Cervical platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.	UMLS:C1856641	hp.json	Flattened cervical vertebral bodies	http://purl.obolibrary.org/obo/HP_0004558							
HP:0004562	biolink:PhenotypicFeature	Beaking of vertebral bodies T12-L3		UMLS:C1854941	hp.json		http://purl.obolibrary.org/obo/HP_0004562							
HP:0004563	biolink:PhenotypicFeature	Increased spinal bone density	Increased bone density affecting the bones of the spine (vertebral column).	UMLS:C4020828|UMLS:C4280254|UMLS:C4280513|UMLS:C4280514|UMLS:C4280515	hp.json	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							
HP:0004565	biolink:PhenotypicFeature	Severe platyspondyly		UMLS:C1850293	hp.json	platyspondyly, extreme	http://purl.obolibrary.org/obo/HP_0004565							
HP:0004566	biolink:PhenotypicFeature	Pear-shaped vertebrae	Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.	UMLS:C1866731	hp.json	Pear-shaped vertebral bodies	http://purl.obolibrary.org/obo/HP_0004566							
HP:0004568	biolink:PhenotypicFeature	Beaking of vertebral bodies	Anterior tongue-like protrusions of the vertebral bodies.	SNOMEDCT_US:19888007|UMLS:C0264112|UMLS:C1856599	hp.json	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							hposlim_core
HP:0004570	biolink:PhenotypicFeature	Increased vertebral height	Increased top to bottom height of vertebral bodies.	UMLS:C1864853	hp.json	Tall vertebral bodies	http://purl.obolibrary.org/obo/HP_0004570							
HP:0004571	biolink:PhenotypicFeature	Widening of cervical spinal canal		UMLS:C3807591	hp.json		http://purl.obolibrary.org/obo/HP_0004571							
HP:0004573	biolink:PhenotypicFeature	Anterior wedging of T11	An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).	UMLS:C4021652	hp.json	Anterior wedging of the 11th thoracic vertebra|Wedge-shaped 11th thoracic vertebra	http://purl.obolibrary.org/obo/HP_0004573							
HP:0004575	biolink:PhenotypicFeature	Fusion of midcervical facet joints		UMLS:C1847394	hp.json		http://purl.obolibrary.org/obo/HP_0004575							
HP:0004576	biolink:PhenotypicFeature	Sclerotic vertebral endplates	Sclerosis (increased density) affecting vertebral end plates.	UMLS:C1859698	hp.json	Endplate sclerosis	http://purl.obolibrary.org/obo/HP_0004576							
HP:0004580	biolink:PhenotypicFeature	Anterior scalloping of vertebral bodies	An excessive concavity of the anterior surface of one or more vertebral bodies.	UMLS:C2673652	hp.json	Anterior scalloping vertebral bodies	http://purl.obolibrary.org/obo/HP_0004580							
HP:0004581	biolink:PhenotypicFeature	Increased anterior vertebral height		UMLS:C1866732	hp.json		http://purl.obolibrary.org/obo/HP_0004581							
HP:0004582	biolink:PhenotypicFeature	Irregularity of vertebral bodies		UMLS:C4025311	hp.json		http://purl.obolibrary.org/obo/HP_0004582							
HP:0004586	biolink:PhenotypicFeature	Biconcave vertebral bodies	Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.	UMLS:C1856087	hp.json	Biconcave 'codfish' vertebrae|Biconcave vertebrae|Codfish vertebrae|Fish vertebrae|Scalloping of vertebral bodies	http://purl.obolibrary.org/obo/HP_0004586							hposlim_core
HP:0004589	biolink:PhenotypicFeature	Dysplasia of second lumbar vertebra		UMLS:C4025310	hp.json		http://purl.obolibrary.org/obo/HP_0004589							
HP:0004590	biolink:PhenotypicFeature	Hypoplastic sacrum		UMLS:C1970816	hp.json	Small sacrum	http://purl.obolibrary.org/obo/HP_0004590							
HP:0004591	biolink:PhenotypicFeature	Disc-like vertebral bodies		UMLS:C1835444	hp.json		http://purl.obolibrary.org/obo/HP_0004591							
HP:0004592	biolink:PhenotypicFeature	Thoracic platyspondyly	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.	UMLS:C1862428	hp.json		http://purl.obolibrary.org/obo/HP_0004592							
HP:0004594	biolink:PhenotypicFeature	Hump-shaped mound of bone in central and posterior portions of vertebral endplate		UMLS:C1839252	hp.json		http://purl.obolibrary.org/obo/HP_0004594							
HP:0004598	biolink:PhenotypicFeature	Supernumerary vertebral ossification centers	Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.	UMLS:C4025309	hp.json	Supernumerary vertebral ossification centres	http://purl.obolibrary.org/obo/HP_0004598							
HP:0004599	biolink:PhenotypicFeature	Absent or minimally ossified vertebral bodies		UMLS:C1832983	hp.json		http://purl.obolibrary.org/obo/HP_0004599							
HP:0004601	biolink:PhenotypicFeature	Spina bifida occulta at L5	The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.	UMLS:C4025308	hp.json		http://purl.obolibrary.org/obo/HP_0004601							
HP:0004602	biolink:PhenotypicFeature	Cervical C2/C3 vertebral fusion	Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.	MSH:D007714|SNOMEDCT_US:388981000|SNOMEDCT_US:5601008|UMLS:C0022738	hp.json	Fusion of cervical vertebrae c2-3|Klippel-Feil anomaly|Klippel-Feil syndrome	http://purl.obolibrary.org/obo/HP_0004602							
HP:0004603	biolink:PhenotypicFeature	Hyperconvex vertebral body endplates		UMLS:C4025307	hp.json		http://purl.obolibrary.org/obo/HP_0004603							
HP:0004605	biolink:PhenotypicFeature	Absent vertebral body mineralization	A lack of bone mineralization of the vertebral bodies.	UMLS:C1860191	hp.json		http://purl.obolibrary.org/obo/HP_0004605							
HP:0004606	biolink:PhenotypicFeature	Unossified vertebral bodies	A lack of ossification of the vertebral bodies.	UMLS:C1860202	hp.json		http://purl.obolibrary.org/obo/HP_0004606							
HP:0004607	biolink:PhenotypicFeature	Anterior beaking of lower thoracic vertebrae	Anterior tongue-like protrusions of the lower thoracic vertebral bodies.	UMLS:C4025306	hp.json		http://purl.obolibrary.org/obo/HP_0004607							
HP:0004608	biolink:PhenotypicFeature	Anteriorly placed odontoid process	Anterior mislocalization of the dens of the axis.	UMLS:C1844512	hp.json		http://purl.obolibrary.org/obo/HP_0004608							
HP:0004609	biolink:PhenotypicFeature	Patchy distortion of vertebrae		UMLS:C4025305	hp.json		http://purl.obolibrary.org/obo/HP_0004609							
HP:0004610	biolink:PhenotypicFeature	Lumbar spinal canal stenosis	An abnormal narrowing of the lumbar spinal canal.	SNOMEDCT_US:18347007|UMLS:C0158288	hp.json	Lumbar spinal stenosis|Narrow lumbar spinal canal	http://purl.obolibrary.org/obo/HP_0004610							
HP:0004611	biolink:PhenotypicFeature	Anterior concavity of thoracic vertebrae		UMLS:C1839822	hp.json	Anteriorly concave vertebrae	http://purl.obolibrary.org/obo/HP_0004611							
HP:0004614	biolink:PhenotypicFeature	Spina bifida occulta at S1	The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.	UMLS:C4025304	hp.json		http://purl.obolibrary.org/obo/HP_0004614							
HP:0004616	biolink:PhenotypicFeature	Cleft vertebral arch	A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.	UMLS:C1859458	hp.json	Cleft vertebral arches	http://purl.obolibrary.org/obo/HP_0004616							
HP:0004617	biolink:PhenotypicFeature	Butterfly vertebral arch	Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.	UMLS:C1861627	hp.json		http://purl.obolibrary.org/obo/HP_0004617							
HP:0004618	biolink:PhenotypicFeature	Sandwich appearance of vertebral bodies		UMLS:C1850134	hp.json		http://purl.obolibrary.org/obo/HP_0004618							
HP:0004619	biolink:PhenotypicFeature	Lumbar kyphoscoliosis		UMLS:C1834953	hp.json		http://purl.obolibrary.org/obo/HP_0004619							
HP:0004621	biolink:PhenotypicFeature	Enlarged vertebral pedicles	Increased size of the vertebral pedicle.	UMLS:C4025303	hp.json	Hyperplastic vertebral pedicles	http://purl.obolibrary.org/obo/HP_0004621							
HP:0004622	biolink:PhenotypicFeature	Progressive intervertebral space narrowing	A progressive form of decreased height of the intervertebral disk.	UMLS:C1837670	hp.json		http://purl.obolibrary.org/obo/HP_0004622							
HP:0004625	biolink:PhenotypicFeature	Biconvex vertebral bodies	Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.	UMLS:C1866675	hp.json		http://purl.obolibrary.org/obo/HP_0004625							
HP:0004626	biolink:PhenotypicFeature	Lumbar scoliosis		UMLS:C2748518	hp.json		http://purl.obolibrary.org/obo/HP_0004626							
HP:0004629	biolink:PhenotypicFeature	Small cervical vertebral bodies	Reduced size of cervical vertebrae.	UMLS:C1851130	hp.json	Small cervical vertebrae	http://purl.obolibrary.org/obo/HP_0004629							
HP:0004630	biolink:PhenotypicFeature	Anterior beaking of thoracic vertebrae	Anterior tongue-like protrusions of thoracic vertebral bodies.	UMLS:C4025302	hp.json		http://purl.obolibrary.org/obo/HP_0004630							
HP:0004631	biolink:PhenotypicFeature	Decreased cervical spine flexion due to contractures of posterior cervical muscles		UMLS:C1839653|UMLS:C4280512	hp.json	Inability to touch chin to chest|Contracture of post-cervical muscles	http://purl.obolibrary.org/obo/HP_0004631							
HP:0004632	biolink:PhenotypicFeature	Cervical segmentation defect	An abnormality related to a defect of vertebral separation of cervical vertebrae during development.	UMLS:C1862415	hp.json	Cervical spine segmentation defect	http://purl.obolibrary.org/obo/HP_0004632							
HP:0004633	biolink:PhenotypicFeature	Lower thoracic kyphosis	Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.	UMLS:C1864361	hp.json	Round mid-back	http://purl.obolibrary.org/obo/HP_0004633							
HP:0004634	biolink:PhenotypicFeature	Cuboid-shaped vertebral bodies		UMLS:C2673653	hp.json	Cuboid vertebral bodies	http://purl.obolibrary.org/obo/HP_0004634							
HP:0004635	biolink:PhenotypicFeature	Cervical C5/C6 vertebrae fusion	Fusion of the C5 and C6 cervical vertebrae.	UMLS:C4025301	hp.json		http://purl.obolibrary.org/obo/HP_0004635							
HP:0004637	biolink:PhenotypicFeature	Decreased cervical spine mobility		UMLS:C1859692	hp.json	Limited neck movement	http://purl.obolibrary.org/obo/HP_0004637							
HP:0004639	biolink:PhenotypicFeature	Elevated amniotic fluid alpha-fetoprotein	An elevation of alpha-feto protein measured in the amniotic fluid.	UMLS:C1839860	hp.json	Elevated amniotic fluid alpha foetal protein|Elevated amniotic fluid alpha fetal protein|Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha-fetoglobulin	http://purl.obolibrary.org/obo/HP_0004639							
HP:0004646	biolink:PhenotypicFeature	Hypoplasia of the nasal bone	Underdevelopment of the nasal bone.	UMLS:C4021651	hp.json	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							
HP:0004660	biolink:PhenotypicFeature	Hypoplasia of facial musculature	Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	UMLS:C1834042|UMLS:C4280509|UMLS:C4280510|UMLS:C4280511	hp.json	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							
HP:0004661	biolink:PhenotypicFeature	Frontalis muscle weakness	Reduced strength of the frontalis muscle (which is located on the forehead).	UMLS:C1859438	hp.json	Weakness of forehead muscle|Weak frontalis muscle	http://purl.obolibrary.org/obo/HP_0004661							
HP:0004664	biolink:PhenotypicFeature	Facial midline hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.	UMLS:C1862496	hp.json		http://purl.obolibrary.org/obo/HP_0004664							
HP:0004673	biolink:PhenotypicFeature	Decreased facial expression	A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.	UMLS:C1862474	hp.json	Decreased facial expression	http://purl.obolibrary.org/obo/HP_0004673							
HP:0004676	biolink:PhenotypicFeature	Prominent supraorbital arches in adult		UMLS:C1834993	hp.json		http://purl.obolibrary.org/obo/HP_0004676							
HP:0004679	biolink:PhenotypicFeature	Large tarsal bones		UMLS:C1859116	hp.json	Large ankle bones	http://purl.obolibrary.org/obo/HP_0004679							
HP:0004681	biolink:PhenotypicFeature	Deep longitudinal plantar crease	Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.	UMLS:C1859223|UMLS:C4280508	hp.json	Foot crease|Longitudinal groove on soles	http://purl.obolibrary.org/obo/HP_0004681							hposlim_core
HP:0004684	biolink:PhenotypicFeature	Talipes valgus	Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.	SNOMEDCT_US:79807003|UMLS:C0152236	hp.json		http://purl.obolibrary.org/obo/HP_0004684							
HP:0004686	biolink:PhenotypicFeature	Short third metatarsal	Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.	UMLS:C4021650	hp.json	Short 3rd long bone of foot|Hypoplasia of the 3rd metatarsal bone	http://purl.obolibrary.org/obo/HP_0004686							
HP:0004688	biolink:PhenotypicFeature	Irregular tarsal bones		UMLS:C1855240	hp.json	Abnormal shape of ankle bones	http://purl.obolibrary.org/obo/HP_0004688							
HP:0004689	biolink:PhenotypicFeature	Short fourth metatarsal	Short fourth metatarsal bone.	UMLS:C1848514	hp.json	Short 4th long bone of foot|Bilateral fourth metatarsal shortening|Short fourth metatarsus|Short fourth metatarsals	http://purl.obolibrary.org/obo/HP_0004689							
HP:0004690	biolink:PhenotypicFeature	Thickened Achilles tendon	An abnormal thickening of the Achilles tendon.	UMLS:C0919997	hp.json	Thickened Achilles tendon	http://purl.obolibrary.org/obo/HP_0004690							
HP:0004691	biolink:PhenotypicFeature	2-3 toe syndactyly	Syndactyly with fusion of toes two and three.	SNOMEDCT_US:205145001|UMLS:C0432040	hp.json	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							
HP:0004692	biolink:PhenotypicFeature	4-5 toe syndactyly	Syndactyly with fusion of toes four and five.	UMLS:C1837836	hp.json	Webbed 4th-5th toes|Symmetric syndactyly, toes 4 and 5|Syndactyly of toes 4 and 5	http://purl.obolibrary.org/obo/HP_0004692							
HP:0004695	biolink:PhenotypicFeature	Calcaneal epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.	UMLS:C1861708	hp.json		http://purl.obolibrary.org/obo/HP_0004695							
HP:0004696	biolink:PhenotypicFeature	Talipes cavus equinovarus		UMLS:C1832342	hp.json		http://purl.obolibrary.org/obo/HP_0004696							
HP:0004699	biolink:PhenotypicFeature	Osteoporotic metatarsal	Decrease in mass and density of the metatarsal bones.	UMLS:C1836873	hp.json		http://purl.obolibrary.org/obo/HP_0004699							
HP:0004704	biolink:PhenotypicFeature	Short fifth metatarsal	Short (hypoplastic) fifth metatarsal bone.	UMLS:C4021649	hp.json	Short 5th long bone of foot|Hypoplasia of the fifth metatarsal bone	http://purl.obolibrary.org/obo/HP_0004704							
HP:0004712	biolink:PhenotypicFeature	Renal malrotation	An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.	SNOMEDCT_US:49008000|UMLS:C0238210	hp.json	Abnormal rotation of the kidneys|Malrotation of the kidney	http://purl.obolibrary.org/obo/HP_0004712							
HP:0004713	biolink:PhenotypicFeature	Reversible renal failure	Acute renal failure with resolution of manifestations.	UMLS:C1843276	hp.json	Reversible kidney failure|Reversible renal failure	http://purl.obolibrary.org/obo/HP_0004713							
HP:0004717	biolink:PhenotypicFeature	Axial malrotation of the kidney	An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.	UMLS:C4025300	hp.json		http://purl.obolibrary.org/obo/HP_0004717							
HP:0004719	biolink:PhenotypicFeature	Hyperechogenic kidneys	An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.	UMLS:C3275899	hp.json	Echogenic kidneys|Increased echogenicity of the renal parenchyma	http://purl.obolibrary.org/obo/HP_0004719							
HP:0004722	biolink:PhenotypicFeature	Thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.	SNOMEDCT_US:264932002|UMLS:C0445347	hp.json		http://purl.obolibrary.org/obo/HP_0004722							
HP:0004724	biolink:PhenotypicFeature	Calcium nephrolithiasis	The presence of calcium-containing calculi (stones) in the kidneys.	UMLS:C1855801	hp.json	Ca kidney stone|Ca nephrolithiasis|Ca2+ kidney stone|Ca2+ nephrolithiasis|Calcium kidney stone	http://purl.obolibrary.org/obo/HP_0004724							
HP:0004727	biolink:PhenotypicFeature	Impaired renal concentrating ability	A defect in the ability to concentrate the urine.	UMLS:C1859819	hp.json	Urine concentrating defect|Urine concentration defect	http://purl.obolibrary.org/obo/HP_0004727							
HP:0004729	biolink:PhenotypicFeature	Acute tubulointerstitial nephritis	Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	MSH:C564356|UMLS:C1843274	hp.json		http://purl.obolibrary.org/obo/HP_0004729							
HP:0004732	biolink:PhenotypicFeature	Impaired renal uric acid clearance	A reduction in the ability of the kidneys to remove uric acid from the serum.	UMLS:C1969371	hp.json		http://purl.obolibrary.org/obo/HP_0004732							
HP:0004734	biolink:PhenotypicFeature	Renal cortical microcysts	Cysts of microscopic size confined to the cortex of the kidney.	UMLS:C1865877	hp.json	Cortical microcysts|Multiple renal cortical microcysts|Multiple small renal cortical cysts	http://purl.obolibrary.org/obo/HP_0004734							
HP:0004736	biolink:PhenotypicFeature	Crossed fused renal ectopia	A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.	UMLS:C1835796	hp.json	Ectopic kidney with fusion	http://purl.obolibrary.org/obo/HP_0004736							
HP:0004737	biolink:PhenotypicFeature	Global glomerulosclerosis	Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.	UMLS:C1865276	hp.json		http://purl.obolibrary.org/obo/HP_0004737							
HP:0004742	biolink:PhenotypicFeature	Abnormal renal collecting system morphology	An abnormality of the renal collecting system.	UMLS:C1851303	hp.json	Abnormal collecting system|Abnormality of the renal collecting system|Renal collecting system anomalies	http://purl.obolibrary.org/obo/HP_0004742							
HP:0004743	biolink:PhenotypicFeature	Chronic tubulointerstitial nephritis	Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	SNOMEDCT_US:60926001|UMLS:C0238304	hp.json		http://purl.obolibrary.org/obo/HP_0004743							
HP:0004746	biolink:PhenotypicFeature	Glomerular subendothelial electron-dense deposits	Electron dense deposits at the glomerular basement membrane,	MSH:D015432|SNOMEDCT_US:59479006|UMLS:C0268743	hp.json	Dense deposit disease|Membranoproliferative glomerulonephritis type II	http://purl.obolibrary.org/obo/HP_0004746							
HP:0004749	biolink:PhenotypicFeature	Atrial flutter	A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.	MSH:D001282|SNOMEDCT_US:5370000|UMLS:C0004239	hp.json		http://purl.obolibrary.org/obo/HP_0004749							
HP:0004751	biolink:PhenotypicFeature	Paroxysmal ventricular tachycardia	Episodes of ventricular tachycardia that have a sudden onset and ending.	SNOMEDCT_US:66657009|UMLS:C0030591	hp.json	Episodes of ventricular tachycardia	http://purl.obolibrary.org/obo/HP_0004751							
HP:0004752	biolink:PhenotypicFeature	Congenital atrioventricular dissociation	A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.	UMLS:C4025299	hp.json		http://purl.obolibrary.org/obo/HP_0004752							
HP:0004754	biolink:PhenotypicFeature	Permanent atrial fibrillation	AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.	SNOMEDCT_US:426749004|SNOMEDCT_US:440028005|UMLS:C0694539|UMLS:C2586056	hp.json	Chronic atrial fibrillation	http://purl.obolibrary.org/obo/HP_0004754							
HP:0004755	biolink:PhenotypicFeature	Supraventricular tachycardia	Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.	MSH:D013617|SNOMEDCT_US:6456007|UMLS:C0039240|UMLS:C1698480	hp.json	SVT|Supraventricular tachyarrhythmia	http://purl.obolibrary.org/obo/HP_0004755							
HP:0004756	biolink:PhenotypicFeature	Ventricular tachycardia	A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).	Fyler:7160|MSH:D017180|SNOMEDCT_US:25569003|UMLS:C0042514	hp.json		http://purl.obolibrary.org/obo/HP_0004756							
HP:0004757	biolink:PhenotypicFeature	Paroxysmal atrial fibrillation	Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.	MSH:D001281|SNOMEDCT_US:282825002|UMLS:C0235480	hp.json	Atrial fibrillation, paroxysmal	http://purl.obolibrary.org/obo/HP_0004757							
HP:0004758	biolink:PhenotypicFeature	Effort-induced polymorphic ventricular tachycardia	Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.	UMLS:C4025298	hp.json	Catecholaminergic polymorphic ventricular tachycardia|Exercise-induced polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/HP_0004758							
HP:0004759	biolink:PhenotypicFeature	obsolete Nodular calcific aortic valve disease			hp.json		http://purl.obolibrary.org/obo/HP_0004759							
HP:0004760	biolink:PhenotypicFeature	obsolete Congenital septal defect			hp.json		http://purl.obolibrary.org/obo/HP_0004760							
HP:0004761	biolink:PhenotypicFeature	Post-angioplasty coronary artery restenosis		UMLS:C2676505	hp.json		http://purl.obolibrary.org/obo/HP_0004761							
HP:0004762	biolink:PhenotypicFeature	Hypoplasia of right ventricle	Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.	Fyler:1821|UMLS:C4082954	hp.json	Small right heart chamber|Underdeveloped right heart chamber|Heart right ventricle hypoplasia	http://purl.obolibrary.org/obo/HP_0004762							
HP:0004763	biolink:PhenotypicFeature	Paroxysmal supraventricular tachycardia	An episodic form of supraventricular tachycardia with abrupt onset and termination.	SNOMEDCT_US:67198005|UMLS:C0030590|UMLS:C4280507	hp.json	Episodic rapid heart beat|Episodic supraventricular tachycardia	http://purl.obolibrary.org/obo/HP_0004763							
HP:0004764	biolink:PhenotypicFeature	Myxomatous mitral valve degeneration	Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.	SNOMEDCT_US:253395003|SNOMEDCT_US:42069006|UMLS:C0264885	hp.json		http://purl.obolibrary.org/obo/HP_0004764							
HP:0004768	biolink:PhenotypicFeature	Sparse anterior scalp hair	Decreased number of head hairs per unit area on the anterior region of the scalp.	UMLS:C1866246	hp.json	Sparse scalp hair at front of head|Thin scalp hair at front of head	http://purl.obolibrary.org/obo/HP_0004768							
HP:0004771	biolink:PhenotypicFeature	Premature graying of body hair		UMLS:C1849125	hp.json	Premature graying of body hair|Premature greying of body hair	http://purl.obolibrary.org/obo/HP_0004771							
HP:0004779	biolink:PhenotypicFeature	Brittle scalp hair	Fragile, easily breakable scalp hair.	UMLS:C4025296	hp.json	Brittle scalp hair	http://purl.obolibrary.org/obo/HP_0004779							
HP:0004780	biolink:PhenotypicFeature	Elbow hypertrichosis	Excessive, increased hair growth located in the elbow region.	UMLS:C4025295	hp.json	Hairy elbow|Hairy elbow syndrome|Hypertrichosis cubiti|Pilosity of elbow	http://purl.obolibrary.org/obo/HP_0004780							
HP:0004782	biolink:PhenotypicFeature	obsolete Hypotrichosis of the scalp			hp.json		http://purl.obolibrary.org/obo/HP_0004782							
HP:0004783	biolink:PhenotypicFeature	Duodenal polyposis	Presence of multiple polyps in the duodenum.	SNOMEDCT_US:301797007|UMLS:C0578477	hp.json	Multiple duodenal polyps	http://purl.obolibrary.org/obo/HP_0004783							
HP:0004784	biolink:PhenotypicFeature	Juvenile gastrointestinal polyposis	The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.	UMLS:C4025294	hp.json	Juvenile GI polyposis	http://purl.obolibrary.org/obo/HP_0004784							
HP:0004785	biolink:PhenotypicFeature	Malrotation of colon	An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.	SNOMEDCT_US:6477005|UMLS:C0266196	hp.json		http://purl.obolibrary.org/obo/HP_0004785							
HP:0004786	biolink:PhenotypicFeature	Jejunal diverticula		UMLS:C4025293	hp.json		http://purl.obolibrary.org/obo/HP_0004786							
HP:0004787	biolink:PhenotypicFeature	Fulminant hepatitis	Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.	SNOMEDCT_US:427044009|UMLS:C0302809	hp.json		http://purl.obolibrary.org/obo/HP_0004787							
HP:0004788	biolink:PhenotypicFeature	Intestinal lymphedema	Fluid retention and edema in the intestine caused by a compromised lymphatic system.	UMLS:C4025292	hp.json		http://purl.obolibrary.org/obo/HP_0004788							
HP:0004789	biolink:PhenotypicFeature	Lactose intolerance	An inability to digest lactose.	MSH:D007787|SNOMEDCT_US:267425008|SNOMEDCT_US:700094005|UMLS:C0022951	hp.json	Lactose intolerance|Milk intolerance	http://purl.obolibrary.org/obo/HP_0004789							
HP:0004790	biolink:PhenotypicFeature	Hypoplasia of the small intestine	Underdevelopment of the small intestine.	UMLS:C4025291	hp.json	Underdeveloped small intestine	http://purl.obolibrary.org/obo/HP_0004790							
HP:0004791	biolink:PhenotypicFeature	Esophageal ulceration	Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.	SNOMEDCT_US:30811009|UMLS:C0151970	hp.json	Esophagus ulcer|Oesophagus ulcer|Oesophagus ulceration	http://purl.obolibrary.org/obo/HP_0004791							
HP:0004792	biolink:PhenotypicFeature	Rectoperineal fistula	The presence of a fistula between the perineum and the rectum.	UMLS:C0240880	hp.json		http://purl.obolibrary.org/obo/HP_0004792							
HP:0004794	biolink:PhenotypicFeature	Malrotation of small bowel	A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.	UMLS:C1860244	hp.json	Malrotation of the small intestine	http://purl.obolibrary.org/obo/HP_0004794							
HP:0004795	biolink:PhenotypicFeature	Hamartomatous stomach polyps	Polyp-like protrusions which are histologically hamartomas located in the stomach.	UMLS:C1862304	hp.json		http://purl.obolibrary.org/obo/HP_0004795							
HP:0004796	biolink:PhenotypicFeature	Gastrointestinal obstruction		SNOMEDCT_US:126765001|UMLS:C0236124	hp.json	GI obstruction|Gastrointestinal obstruction|Obstruction in digestive tract	http://purl.obolibrary.org/obo/HP_0004796							
HP:0004797	biolink:PhenotypicFeature	Multiple small bowel atresias	The presence of multiple areas of atresia affecting the small intestine.	UMLS:C1857476	hp.json		http://purl.obolibrary.org/obo/HP_0004797							
HP:0004798	biolink:PhenotypicFeature	Recurrent infection of the gastrointestinal tract	Recurrent infection of the gastrointestinal tract.	SNOMEDCT_US:715852004|UMLS:C1854495|UMLS:C4082764	hp.json	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							
HP:0004799	biolink:PhenotypicFeature	Jejunoileal diverticula		UMLS:C4025290	hp.json		http://purl.obolibrary.org/obo/HP_0004799							
HP:0004800	biolink:PhenotypicFeature	Duodenal diverticula		SNOMEDCT_US:197083003|UMLS:C0341266	hp.json		http://purl.obolibrary.org/obo/HP_0004800							
HP:0004802	biolink:PhenotypicFeature	Episodic hemolytic anemia	A form of hemolytic anemia that occurs in repeated episodes.	UMLS:C1859495	hp.json	Episodic hemolytic anaemia|Episodic hemolysis	http://purl.obolibrary.org/obo/HP_0004802							
HP:0004804	biolink:PhenotypicFeature	Congenital hemolytic anemia	A form of hemolytic anemia with congenital onset.	MSH:D000745|SNOMEDCT_US:38911009|SNOMEDCT_US:42601008|UMLS:C0002881|UMLS:C4020827	hp.json	Congenital haemolytic anaemia|Congenital hemolytic anaemia|Neonatal hemolytic anaemia|Congenital haemolytic anemia|Neonatal hemolytic anemia	http://purl.obolibrary.org/obo/HP_0004804							
HP:0004808	biolink:PhenotypicFeature	Acute myeloid leukemia	A form of leukemia characterized by overproduction of an early myeloid cell.	MSH:D015470|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|UMLS:C0023467	hp.json	AML|Acute myeloblastic leukaemia|Acute myelocytic leukaemia|Acute myelogenous leukaemia|Acute myeloid leukaemia|Acute myeloblastic leukemia|Acute myelocytic leukemia|Acute myelogenous leukemia	http://purl.obolibrary.org/obo/HP_0004808							
HP:0004809	biolink:PhenotypicFeature	Neonatal alloimmune thrombocytopenia	Low platelet count associated with maternal platelet-specific alloantibodies.	MSH:D054098|SNOMEDCT_US:240305000|UMLS:C3853779	hp.json		http://purl.obolibrary.org/obo/HP_0004809							
HP:0004810	biolink:PhenotypicFeature	Congenital hypoplastic anemia	A type of hypoplastic anemia with congenital onset.	MSH:D000742|MSH:D029503|SNOMEDCT_US:234371002|SNOMEDCT_US:52951008|SNOMEDCT_US:88854002|UMLS:C0002876|UMLS:C1260899	hp.json	Congenital dyserythropoietic anaemia|Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/HP_0004810							
HP:0004812	biolink:PhenotypicFeature	B Acute Lymphoblastic Leukemia	A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.		hp.json	B Acute Lymphoblastic Leukaemia|Pre-B-cell acute lymphoblastic leukaemia|Pre-B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/HP_0004812							
HP:0004813	biolink:PhenotypicFeature	Post-transfusion thrombocytopenia	Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.	MSH:C562868|SNOMEDCT_US:73162004|UMLS:C0398648|UMLS:C1868252	hp.json	Post-transfusion purpura	http://purl.obolibrary.org/obo/HP_0004813							
HP:0004814	biolink:PhenotypicFeature	Fava bean-induced hemolytic anemia	A kind of hemolytic anemia that is induced by the ingestion of fava beans.	UMLS:C4021648	hp.json	Fava bean-induced hemolytic anaemia|Hemolytic anaemia following ingestion of fava beans|Hemolytic anemia following ingestion of fava beans	http://purl.obolibrary.org/obo/HP_0004814							
HP:0004817	biolink:PhenotypicFeature	Drug-sensitive hemolytic anemia	A form of hemolytic anemia that is triggered by ingestion of certain drugs.	UMLS:C4025289	hp.json	Drug-sensitive hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0004817							
HP:0004818	biolink:PhenotypicFeature	Paroxysmal nocturnal hemoglobinuria		MSH:D006457|SNOMEDCT_US:1963002|UMLS:C0024790	hp.json	Paroxysmal nocturnal haemoglobinuria	http://purl.obolibrary.org/obo/HP_0004818							
HP:0004819	biolink:PhenotypicFeature	Normocytic hypoplastic anemia	A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).	UMLS:C1835875	hp.json	Normocytic hypoplastic anaemia	http://purl.obolibrary.org/obo/HP_0004819							
HP:0004820	biolink:PhenotypicFeature	Acute myelomonocytic leukemia	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.	MSH:D015479|SNOMEDCT_US:110005000|SNOMEDCT_US:277601005|SNOMEDCT_US:30962008|UMLS:C0023479	hp.json	Acute myelomonocytic leukaemia	http://purl.obolibrary.org/obo/HP_0004820							
HP:0004821	biolink:PhenotypicFeature	Hypersegmentation of neutrophil nuclei	An excessive division of the lobes of the nucleus of a neutrophil.	UMLS:C4025288	hp.json	Hypermature neutrophils|Hypersegmentation of neutrophil nuclei in peripheral blood	http://purl.obolibrary.org/obo/HP_0004821							
HP:0004822	biolink:PhenotypicFeature	Atypical elliptocytosis		MSH:C565598|UMLS:C1857010	hp.json		http://purl.obolibrary.org/obo/HP_0004822							
HP:0004823	biolink:PhenotypicFeature	Anisopoikilocytosis	A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.	UMLS:C2675920	hp.json		http://purl.obolibrary.org/obo/HP_0004823							
HP:0004825	biolink:PhenotypicFeature	Increased hemoglobin oxygen affinity	An abnormal increase in the binding affinity of hemoglobin for oxygen.	UMLS:C4021647	hp.json	Increased Hb O2 affinity|Increased Hb oxygen affinity|Increased hemoglobin O2 affinity|Increased haemoglobin O2 affinity|Increased haemoglobin oxygen affinity	http://purl.obolibrary.org/obo/HP_0004825							
HP:0004826	biolink:PhenotypicFeature	Folate-unresponsive megaloblastic anemia	A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.	UMLS:C4025287	hp.json	Folate-unresponsive megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0004826							
HP:0004828	biolink:PhenotypicFeature	Refractory anemia with ringed sideroblasts	A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.	ICD-O:M9982/3|SNOMEDCT_US:109998009|SNOMEDCT_US:128846006|UMLS:C1264195	hp.json	Refractory anaemia with ringed sideroblasts|Myelodysplasia with sideroblastosis	http://purl.obolibrary.org/obo/HP_0004828							
HP:0004831	biolink:PhenotypicFeature	Recurrent thromboembolism	Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.	UMLS:C0749398|UMLS:C4025286	hp.json	Recurrent thromboembolic disease	http://purl.obolibrary.org/obo/HP_0004831							
HP:0004835	biolink:PhenotypicFeature	Microspherocytosis	The presence of erythrocytes that are sphere-shaped and reduced in size.	UMLS:C4025285	hp.json		http://purl.obolibrary.org/obo/HP_0004835							
HP:0004836	biolink:PhenotypicFeature	Acute promyelocytic leukemia	A type of acute myeloid leukemia in which abnormal promyelocytes predominate.	MSH:D015473|SNOMEDCT_US:110004001|SNOMEDCT_US:28950004|UMLS:C0023487	hp.json	Acute promyelocytic leukaemia	http://purl.obolibrary.org/obo/HP_0004836							
HP:0004839	biolink:PhenotypicFeature	Pyropoikilocytosis	A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.	MSH:C563004|SNOMEDCT_US:9434008|UMLS:C0520739	hp.json	hereditary pyropoikilocytosis	http://purl.obolibrary.org/obo/HP_0004839							
HP:0004840	biolink:PhenotypicFeature	Hypochromic microcytic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.	MSH:C536357|SNOMEDCT_US:44666001|UMLS:C0271901	hp.json	Hypochromic microcytic anaemia|Hypochromic, microcytic anaemia|Hypochromic, microcytic anemia	http://purl.obolibrary.org/obo/HP_0004840							
HP:0004841	biolink:PhenotypicFeature	Reduced factor XII activity	Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.	MSH:D005175|SNOMEDCT_US:46981006|UMLS:C0015526	hp.json	Factor XII deficiency|Hageman factor deficiency	http://purl.obolibrary.org/obo/HP_0004841							
HP:0004844	biolink:PhenotypicFeature	Coombs-positive hemolytic anemia	A type of hemolytic anemia in which the Coombs test is positive.	SNOMEDCT_US:74789008|UMLS:C0520736	hp.json	Coombs-positive hemolytic anaemia|Direct Coombs positive	http://purl.obolibrary.org/obo/HP_0004844							
HP:0004845	biolink:PhenotypicFeature	Acute monocytic leukemia	The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.	MSH:D007948|SNOMEDCT_US:22331004|SNOMEDCT_US:413441006|UMLS:C0023465	hp.json	AML-M5|AMoL|Acute monoblastic leukaemia|Acute monocytic leukaemia|Acute monoblastic leukemia	http://purl.obolibrary.org/obo/HP_0004845							
HP:0004846	biolink:PhenotypicFeature	Prolonged bleeding after surgery	Bleeding that persists longer than the normal time following a surgical procedure.	UMLS:C4021646	hp.json	Excessive bleeding during surgery|Prolonged bleeding after surgery|Protracted bleeding after surgery	http://purl.obolibrary.org/obo/HP_0004846							
HP:0004848	biolink:PhenotypicFeature	Ph-positive acute lymphoblastic leukemia	A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.	SNOMEDCT_US:425688002|SNOMEDCT_US:426955004|UMLS:C1960397	hp.json	Ph-positive acute lymphoblastic leukaemia|Philadelphia-positive acute lymphoblastic leukaemia|Philadelphia-positive acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/HP_0004848							
HP:0004850	biolink:PhenotypicFeature	Recurrent deep vein thrombosis	Repeated episodes of the formation of a blot clot in a deep vein.	SNOMEDCT_US:710167004|UMLS:C1735901	hp.json	Recurrent deep vein blood clot|Recurrent venous thrombosis	http://purl.obolibrary.org/obo/HP_0004850							
HP:0004851	biolink:PhenotypicFeature	Folate-responsive megaloblastic anemia	A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.	UMLS:C2749656	hp.json	Folate-responsive megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0004851							
HP:0004852	biolink:PhenotypicFeature	Reduced leukocyte alkaline phosphatase	Decreased alkaline phosphatase measured within leukocytes.	UMLS:C1850780	hp.json	Reduced leukocyte ALP|Low leukocyte alkaline phosphatase	http://purl.obolibrary.org/obo/HP_0004852							
HP:0004854	biolink:PhenotypicFeature	Intermittent thrombocytopenia	Reduced platelet count that occurs sporadically, i.e., it comes and goes.	UMLS:C1839167	hp.json		http://purl.obolibrary.org/obo/HP_0004854							
HP:0004855	biolink:PhenotypicFeature	Reduced protein S activity	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.	MSH:D018455|SNOMEDCT_US:1563006|UMLS:C0242666|UMLS:C4025284	hp.json	Protein S deficiency	http://purl.obolibrary.org/obo/HP_0004855							
HP:0004856	biolink:PhenotypicFeature	Normochromic microcytic anemia	A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.	SNOMEDCT_US:4984008|UMLS:C0271902	hp.json	Normochromic microcytic anaemia	http://purl.obolibrary.org/obo/HP_0004856							
HP:0004857	biolink:PhenotypicFeature	Hyperchromic macrocytic anemia	A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.	UMLS:C3854594	hp.json	Hyperchromic macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0004857							
HP:0004859	biolink:PhenotypicFeature	Amegakaryocytic thrombocytopenia	Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.	SNOMEDCT_US:234482009|UMLS:C0398639	hp.json		http://purl.obolibrary.org/obo/HP_0004859							
HP:0004860	biolink:PhenotypicFeature	Thiamine-responsive megaloblastic anemia	A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.	SNOMEDCT_US:12907000|UMLS:C0271972	hp.json	Thiamine-responsive megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0004860							
HP:0004861	biolink:PhenotypicFeature	Refractory macrocytic anemia		UMLS:C2675059	hp.json	Refractory macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0004861							
HP:0004863	biolink:PhenotypicFeature	Compensated hemolytic anemia		UMLS:C4025283	hp.json	Compensated hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0004863							
HP:0004864	biolink:PhenotypicFeature	Refractory sideroblastic anemia	A type of sideroblastic anemia that is not responsive to treatment.	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896	hp.json	Refractory sideroblastic anaemia	http://purl.obolibrary.org/obo/HP_0004864							
HP:0004866	biolink:PhenotypicFeature	Impaired ADP-induced platelet aggregation	Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.	UMLS:C4025282	hp.json		http://purl.obolibrary.org/obo/HP_0004866							
HP:0004870	biolink:PhenotypicFeature	Chronic hemolytic anemia	An chronic form of hemolytic anemia.	SNOMEDCT_US:707480001|UMLS:C1387532	hp.json	Chronic hemolytic anaemia|hemolytic anemia, chronic	http://purl.obolibrary.org/obo/HP_0004870							
HP:0004871	biolink:PhenotypicFeature	Perineal fistula	The presence of a fistula between the bowel and the perineum.	SNOMEDCT_US:284077005|UMLS:C0561921	hp.json		http://purl.obolibrary.org/obo/HP_0004871							
HP:0004872	biolink:PhenotypicFeature	Incisional hernia	An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.	MSH:D000069290|SNOMEDCT_US:236037000|SNOMEDCT_US:241556001|UMLS:C0267716|UMLS:C4021645	hp.json	Recurrent abdominal hernia	http://purl.obolibrary.org/obo/HP_0004872							
HP:0004875	biolink:PhenotypicFeature	Neonatal inspiratory stridor		UMLS:C4025281	hp.json		http://purl.obolibrary.org/obo/HP_0004875							
HP:0004876	biolink:PhenotypicFeature	Spontaneous neonatal pneumothorax	Pneumothorax occurring neonatally without traumatic injury to the chest or lung.	UMLS:C1857021	hp.json	Neonatal pneumothorax	http://purl.obolibrary.org/obo/HP_0004876							
HP:0004878	biolink:PhenotypicFeature	Intercostal muscle weakness	Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.	UMLS:C0240017	hp.json	Muscle weakness between ribs|Dependence on diaphragmatic breathing	http://purl.obolibrary.org/obo/HP_0004878							
HP:0004879	biolink:PhenotypicFeature	Intermittent hyperventilation	Episodic hyperventilation.	SNOMEDCT_US:423427003|UMLS:C1828017	hp.json	Intermittent overbreathing|Episodic hyperventilation	http://purl.obolibrary.org/obo/HP_0004879							
HP:0004880	biolink:PhenotypicFeature	Respiratory infections in early life	Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.	UMLS:C4025280	hp.json		http://purl.obolibrary.org/obo/HP_0004880							
HP:0004881	biolink:PhenotypicFeature	Episodic hypoventilation		UMLS:C1844946	hp.json	Episodic slow breathing|Episodic under breathing	http://purl.obolibrary.org/obo/HP_0004881							
HP:0004885	biolink:PhenotypicFeature	Episodic respiratory distress		UMLS:C1844945	hp.json	Episodic difficulty breathing|respiratory distress, episodic	http://purl.obolibrary.org/obo/HP_0004885							
HP:0004886	biolink:PhenotypicFeature	Congenital laryngeal stridor		SNOMEDCT_US:55490007|UMLS:C0265763	hp.json		http://purl.obolibrary.org/obo/HP_0004886							
HP:0004887	biolink:PhenotypicFeature	Respiratory failure requiring assisted ventilation	A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.	UMLS:C4025279	hp.json	Respiratory distress necessitating mechanical ventilation|Respiratory distress requiring endotracheal intubation|Respiratory distress requiring mechanical ventilation	http://purl.obolibrary.org/obo/HP_0004887							
HP:0004889	biolink:PhenotypicFeature	Intermittent episodes of respiratory insufficiency due to muscle weakness		UMLS:C3807025	hp.json		http://purl.obolibrary.org/obo/HP_0004889							
HP:0004890	biolink:PhenotypicFeature	Elevated pulmonary artery pressure	An abnormally elevated blood pressure in the circulation of the pulmonary artery.	UMLS:C3805917	hp.json	increased pulmonary artery pressure|Elevated lung artery pressure	http://purl.obolibrary.org/obo/HP_0004890							
HP:0004891	biolink:PhenotypicFeature	Recurrent infections due to aspiration	Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.	UMLS:C3806285	hp.json		http://purl.obolibrary.org/obo/HP_0004891							
HP:0004894	biolink:PhenotypicFeature	Laryngotracheal stenosis		UMLS:C3806280	hp.json		http://purl.obolibrary.org/obo/HP_0004894							
HP:0004897	biolink:PhenotypicFeature	Stress/infection-induced lactic acidosis	A form of lactic acidemia that occurs in relation to stress or infection.	UMLS:C4025278	hp.json	Metabolic crises during febrile infections	http://purl.obolibrary.org/obo/HP_0004897							
HP:0004898	biolink:PhenotypicFeature	Persistent lactic acidosis	A continuous form of lactic acidemia.	UMLS:C3554538	hp.json		http://purl.obolibrary.org/obo/HP_0004898							
HP:0004900	biolink:PhenotypicFeature	Severe lactic acidosis	A severe form of lactic acidemia.	UMLS:C1839436	hp.json		http://purl.obolibrary.org/obo/HP_0004900							
HP:0004901	biolink:PhenotypicFeature	Exercise-induced lactic acidemia	A form of lactic acidemia that occurs following exercise or exertion.	UMLS:C4025277	hp.json	Exercise-induced lactic acidosis	http://purl.obolibrary.org/obo/HP_0004901							
HP:0004902	biolink:PhenotypicFeature	Congenital lactic acidosis	A form of lactic acidemia with congenital onset.	UMLS:C4025276	hp.json		http://purl.obolibrary.org/obo/HP_0004902							
HP:0004904	biolink:PhenotypicFeature	Maturity-onset diabetes of the young	The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.	MSH:C562772|SNOMEDCT_US:609561005|UMLS:C0342276	hp.json	MODY|Maturity onset diabetes of the young	http://purl.obolibrary.org/obo/HP_0004904							
HP:0004905	biolink:PhenotypicFeature	Low levels of vitamin A	A reduced concentration of vitamin A.	MSH:D014802|SNOMEDCT_US:72000004|UMLS:C0042842	hp.json	Vitamin A deficiency	http://purl.obolibrary.org/obo/HP_0004905							
HP:0004906	biolink:PhenotypicFeature	Hypernatremic dehydration		SNOMEDCT_US:427784006|UMLS:C1850544	hp.json		http://purl.obolibrary.org/obo/HP_0004906							
HP:0004909	biolink:PhenotypicFeature	Hypokalemic hypochloremic metabolic alkalosis		UMLS:C0740896	hp.json		http://purl.obolibrary.org/obo/HP_0004909							
HP:0004910	biolink:PhenotypicFeature	Bicarbonate-wasting renal tubular acidosis		UMLS:C1858626	hp.json	HCO3-wasting renal tubular acidosis|Renal bicarbonate wasting	http://purl.obolibrary.org/obo/HP_0004910							
HP:0004911	biolink:PhenotypicFeature	Episodic metabolic acidosis	Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.	UMLS:C1859516	hp.json	Recurrent episodes of acidosis	http://purl.obolibrary.org/obo/HP_0004911							
HP:0004912	biolink:PhenotypicFeature	Hypophosphatemic rickets		MSH:D063730|SNOMEDCT_US:66266003|UMLS:C1704375	hp.json		http://purl.obolibrary.org/obo/HP_0004912							
HP:0004913	biolink:PhenotypicFeature	Intermittent lactic acidemia	An intermittent (discontinuous) form of lactic acidemia.	UMLS:C1844917	hp.json		http://purl.obolibrary.org/obo/HP_0004913							
HP:0004914	biolink:PhenotypicFeature	Recurrent infantile hypoglycemia	Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.	UMLS:C4021644	hp.json	Recurrent low blood sugar in infant|Episodic infantile hypoglycemia	http://purl.obolibrary.org/obo/HP_0004914							
HP:0004915	biolink:PhenotypicFeature	Impairment of galactose metabolism	An impairment of galactose metabolism.	UMLS:C4021643	hp.json	Impaired galactose metabolism	http://purl.obolibrary.org/obo/HP_0004915							
HP:0004916	biolink:PhenotypicFeature	Generalized distal tubular acidosis		UMLS:C4025275	hp.json	Generalised distal tubular acidosis	http://purl.obolibrary.org/obo/HP_0004916							
HP:0004918	biolink:PhenotypicFeature	Hyperchloremic metabolic acidosis	A form of metabolic acidosis with increased serum chloride levels.	UMLS:C1969073	hp.json	Non-gap acidosis	http://purl.obolibrary.org/obo/HP_0004918							
HP:0004919	biolink:PhenotypicFeature	Galactose intolerance		MSH:D005693|SNOMEDCT_US:190745006|SNOMEDCT_US:190749000|UMLS:C0016952	hp.json		http://purl.obolibrary.org/obo/HP_0004919							
HP:0004920	biolink:PhenotypicFeature	Phenylpyruvic acidemia		UMLS:C1849926	hp.json		http://purl.obolibrary.org/obo/HP_0004920							
HP:0004921	biolink:PhenotypicFeature	Abnormal magnesium concentration	An abnormality of magnesium ion homeostasis.	UMLS:C4020826|UMLS:C4025274	hp.json	Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism	http://purl.obolibrary.org/obo/HP_0004921							
HP:0004922	biolink:PhenotypicFeature	Atypical hyperphenylalaninemia		UMLS:C4025273	hp.json		http://purl.obolibrary.org/obo/HP_0004922							
HP:0004923	biolink:PhenotypicFeature	Hyperphenylalaninemia	An increased concentration of L-phenylalanine in the blood.	MSH:D010661|SNOMEDCT_US:68528007|UMLS:C0751435	hp.json		http://purl.obolibrary.org/obo/HP_0004923							
HP:0004924	biolink:PhenotypicFeature	Abnormal oral glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.	UMLS:C1847425	hp.json	Abnormal glucose oral tolerance test	http://purl.obolibrary.org/obo/HP_0004924							
HP:0004925	biolink:PhenotypicFeature	Chronic lactic acidosis	A chronic form of lactic acidemia.	UMLS:C1839437	hp.json		http://purl.obolibrary.org/obo/HP_0004925							
HP:0004926	biolink:PhenotypicFeature	Orthostatic hypotension due to autonomic dysfunction		UMLS:C1868528	hp.json		http://purl.obolibrary.org/obo/HP_0004926							
HP:0004927	biolink:PhenotypicFeature	Pulmonary artery dilatation	An abnormal widening of the diameter of the pulmonary artery.	SNOMEDCT_US:251047005|UMLS:C0428851	hp.json		http://purl.obolibrary.org/obo/HP_0004927							
HP:0004928	biolink:PhenotypicFeature	obsolete Peripheral arterial stenosis			hp.json		http://purl.obolibrary.org/obo/HP_0004928							
HP:0004929	biolink:PhenotypicFeature	obsolete Coronary atherosclerosis			hp.json		http://purl.obolibrary.org/obo/HP_0004929							
HP:0004930	biolink:PhenotypicFeature	Abnormality of the pulmonary vasculature		UMLS:C4025271	hp.json	Abnormality of the lung blood vessels	http://purl.obolibrary.org/obo/HP_0004930							
HP:0004931	biolink:PhenotypicFeature	Arteriosclerosis of small cerebral arteries	Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.	UMLS:C4025270|UMLS:C4280505	hp.json	Hardened artery wall in small cerebral arteries	http://purl.obolibrary.org/obo/HP_0004931							
HP:0004933	biolink:PhenotypicFeature	Ascending aortic dissection	A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.	UMLS:C1836653	hp.json	Type A aortic dissection	http://purl.obolibrary.org/obo/HP_0004933							
HP:0004934	biolink:PhenotypicFeature	Vascular calcification	Abnormal calcification of the vasculature.	MSH:D061205|SNOMEDCT_US:237897009|UMLS:C0342649	hp.json		http://purl.obolibrary.org/obo/HP_0004934							
HP:0004935	biolink:PhenotypicFeature	Pulmonary artery atresia	A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.	SNOMEDCT_US:10930001|SNOMEDCT_US:204443008|UMLS:C0265908	hp.json	Pulmonary atresia	http://purl.obolibrary.org/obo/HP_0004935							
HP:0004936	biolink:PhenotypicFeature	Venous thrombosis	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.	MSH:D020246|SNOMEDCT_US:111293003|UMLS:C0042487	hp.json	Blood clot in vein	http://purl.obolibrary.org/obo/HP_0004936							
HP:0004937	biolink:PhenotypicFeature	Pulmonary artery aneurysm	An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.	SNOMEDCT_US:194892009|UMLS:C0155676	hp.json		http://purl.obolibrary.org/obo/HP_0004937							
HP:0004938	biolink:PhenotypicFeature	Tortuous cerebral arteries	Excessive bending, twisting, and winding of a cerebral artery.	UMLS:C1836791	hp.json	Twisted cerebral arteries	http://purl.obolibrary.org/obo/HP_0004938							
HP:0004940	biolink:PhenotypicFeature	Generalized arterial calcification	Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.	UMLS:C4025269	hp.json	Generalised arterial calcification	http://purl.obolibrary.org/obo/HP_0004940							
HP:0004941	biolink:PhenotypicFeature	Extrahepatic portal hypertension	Increased pressure in the pre-hepatic portal vein.	UMLS:C4025268	hp.json		http://purl.obolibrary.org/obo/HP_0004941							
HP:0004942	biolink:PhenotypicFeature	Aortic aneurysm	Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.	Fyler:2301|Fyler:2708|MSH:D001014|SNOMEDCT_US:67362008|UMLS:C0003486	hp.json	Bulge in wall of large artery that carries blood away from heart|Aortic dilatation	http://purl.obolibrary.org/obo/HP_0004942							
HP:0004943	biolink:PhenotypicFeature	Accelerated atherosclerosis	Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.	UMLS:C1849618|UMLS:C4280504	hp.json	Accelerated plaque build-up in arteries	http://purl.obolibrary.org/obo/HP_0004943							
HP:0004944	biolink:PhenotypicFeature	Dilatation of the cerebral artery	The presence of a localized dilatation or ballooning of a cerebral artery.	MSH:D002532|SNOMEDCT_US:128608001|UMLS:C0751003|UMLS:C1290398	hp.json	Brain aneurysm|Intracranial aneurysm|Cerebral aneurysm|Cerebral artery aneurysm	http://purl.obolibrary.org/obo/HP_0004944							
HP:0004945	biolink:PhenotypicFeature	Extracranial internal carotid artery dissection	A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.	UMLS:C4025267	hp.json		http://purl.obolibrary.org/obo/HP_0004945							
HP:0004947	biolink:PhenotypicFeature	Arteriovenous fistula	An abnormal connection between an artery and vein.	MSH:D001164|SNOMEDCT_US:128617001|SNOMEDCT_US:439470001|UMLS:C0003855	hp.json	Arteriovenous fistulas	http://purl.obolibrary.org/obo/HP_0004947							
HP:0004948	biolink:PhenotypicFeature	Vascular tortuosity	Abnormal twisting of arteries or veins.	UMLS:C2673776	hp.json	Twisted blood vessels	http://purl.obolibrary.org/obo/HP_0004948							
HP:0004950	biolink:PhenotypicFeature	Peripheral arterial stenosis	Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.	MSH:D016491|MSH:D058729|SNOMEDCT_US:399957001|SNOMEDCT_US:400047006|UMLS:C0085096|UMLS:C1704436	hp.json	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							
HP:0004952	biolink:PhenotypicFeature	Pulmonary arteriovenous fistulas	A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.	MSH:C562404|SNOMEDCT_US:111289009|UMLS:C0155675	hp.json		http://purl.obolibrary.org/obo/HP_0004952							
HP:0004953	biolink:PhenotypicFeature	obsolete Dilatation of abdominal aorta			hp.json		http://purl.obolibrary.org/obo/HP_0004953							
HP:0004954	biolink:PhenotypicFeature	obsolete Dilatation of the descending aorta			hp.json		http://purl.obolibrary.org/obo/HP_0004954							
HP:0004955	biolink:PhenotypicFeature	Generalized arterial tortuosity	Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.	UMLS:C1836651|UMLS:C3279191	hp.json	Generalized twisted arteries|Generalised arterial tortuosity|Generalised twisted arteries|Arterial tortuosity, generalised|Arterial tortuosity, general|Arterial tortuosity, generalized	http://purl.obolibrary.org/obo/HP_0004955							
HP:0004959	biolink:PhenotypicFeature	Descending thoracic aorta aneurysm	An abnormal localized widening (dilatation) of the descending thoracic aorta.	Fyler:2754|UMLS:C4025266	hp.json	Dilatation of the descending thoracic aorta	http://purl.obolibrary.org/obo/HP_0004959							
HP:0004960	biolink:PhenotypicFeature	Absent pulmonary artery	A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.	SNOMEDCT_US:86252004|UMLS:C0265905	hp.json	Absent lung artery|Missing pulmonary artery	http://purl.obolibrary.org/obo/HP_0004960							
HP:0004961	biolink:PhenotypicFeature	Pulmonary artery sling	An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.	UMLS:C1856123	hp.json		http://purl.obolibrary.org/obo/HP_0004961							
HP:0004962	biolink:PhenotypicFeature	Thoracic aorta calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.	UMLS:C1969292	hp.json		http://purl.obolibrary.org/obo/HP_0004962							
HP:0004963	biolink:PhenotypicFeature	Calcification of the aorta	Calcification, that is, pathological deposition of calcium salts in the aorta.	UMLS:C1096249	hp.json		http://purl.obolibrary.org/obo/HP_0004963							
HP:0004964	biolink:PhenotypicFeature	Pulmonary arterial medial hypertrophy	Increase in mass of the tunica media of the arteries in the pulmonary circulation.	UMLS:C1504382	hp.json	Hypertrophy of the pulmonary artery wall	http://purl.obolibrary.org/obo/HP_0004964							
HP:0004966	biolink:PhenotypicFeature	Medial calcification of large arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.	UMLS:C4025265	hp.json		http://purl.obolibrary.org/obo/HP_0004966							
HP:0004968	biolink:PhenotypicFeature	Recurrent cerebral hemorrhage	Recurrent bleeding into the parenchyma of the brain.	UMLS:C4025264	hp.json	Recurrent cerebral haemorrhage|Recurrent hemorrhagic stroke	http://purl.obolibrary.org/obo/HP_0004968							
HP:0004969	biolink:PhenotypicFeature	Peripheral pulmonary artery stenosis	Stenosis of a peripheral branch of the pulmonary artery.	SNOMEDCT_US:253631001|UMLS:C0345030	hp.json	Narrowing of peripheral lung artery|Peripheral pulmonic stenosis|peripheral pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0004969							
HP:0004970	biolink:PhenotypicFeature	Ascending tubular aorta aneurysm	An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.	Fyler:2310|Fyler:2701|SNOMEDCT_US:253645007|UMLS:C0345049	hp.json	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							
HP:0004971	biolink:PhenotypicFeature	Pulmonary artery hypoplasia	Underdevelopment of the pulmonary artery.	Fyler:2966|SNOMEDCT_US:54682008|UMLS:C0265910	hp.json	Underdeveloped lung artery|Underdeveloped pulmonary artery	http://purl.obolibrary.org/obo/HP_0004971							
HP:0004972	biolink:PhenotypicFeature	Elevated mean arterial pressure	An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.	UMLS:C1840376	hp.json		http://purl.obolibrary.org/obo/HP_0004972							
HP:0004974	biolink:PhenotypicFeature	Coarctation of abdominal aorta	Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.	UMLS:C4025263	hp.json		http://purl.obolibrary.org/obo/HP_0004974							
HP:0004975	biolink:PhenotypicFeature	Erlenmeyer flask deformity of the femurs	Flaring of distal femur.	UMLS:C1855895	hp.json	Erlenmeyer flask shaped thighbone|Erlenmeyer flask deformity of distal femur|Erlenmeyer flask femora	http://purl.obolibrary.org/obo/HP_0004975							
HP:0004976	biolink:PhenotypicFeature	Knee dislocation		MSH:D031221|SNOMEDCT_US:58320001|UMLS:C0159970	hp.json	Dislocations of the knees|Knee dislocations	http://purl.obolibrary.org/obo/HP_0004976							
HP:0004977	biolink:PhenotypicFeature	Bilateral radial aplasia	Missing radius bone on both sides associated with congenital failure of development.	UMLS:C1848840	hp.json	Bilateral absence of radius	http://purl.obolibrary.org/obo/HP_0004977							
HP:0004979	biolink:PhenotypicFeature	Metaphyseal sclerosis	Abnormally increased density of metaphyseal bone.	UMLS:C3552526	hp.json	Increased bone density in wide portion of long bone|Sclerotic metaphyses	http://purl.obolibrary.org/obo/HP_0004979							
HP:0004980	biolink:PhenotypicFeature	Metaphyseal rarefaction	Reduction in density of metaphyseal bony tissue.	UMLS:C1832146	hp.json	Rarefaction of the metaphyses	http://purl.obolibrary.org/obo/HP_0004980							
HP:0004981	biolink:PhenotypicFeature	Prominent styloid process of ulna		UMLS:C4025262	hp.json		http://purl.obolibrary.org/obo/HP_0004981							
HP:0004986	biolink:PhenotypicFeature	obsolete Rudimentary to absent fibulae			hp.json		http://purl.obolibrary.org/obo/HP_0004986							
HP:0004987	biolink:PhenotypicFeature	Mesomelic leg shortening	Shortening of the middle parts of the leg in relation to the upper and terminal segments.	UMLS:C1969178	hp.json	Mesomelia of the lower limbs|Mesomelic lower limb shortening	http://purl.obolibrary.org/obo/HP_0004987							
HP:0004990	biolink:PhenotypicFeature	Epiphyseal streaking		UMLS:C1858039	hp.json		http://purl.obolibrary.org/obo/HP_0004990							
HP:0004991	biolink:PhenotypicFeature	Rhizomelic arm shortening	Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).	UMLS:C1969532	hp.json		http://purl.obolibrary.org/obo/HP_0004991							
HP:0004993	biolink:PhenotypicFeature	Slender long bones with narrow diaphyses	Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.	UMLS:C2675547	hp.json	Slender long bones with narrow shaft	http://purl.obolibrary.org/obo/HP_0004993							
HP:0004997	biolink:PhenotypicFeature	Multicentric ossification of proximal humeral epiphyses		UMLS:C1857192	hp.json		http://purl.obolibrary.org/obo/HP_0004997							
HP:0005001	biolink:PhenotypicFeature	Recurrent patellar dislocation	Patellar dislocation occurring repeated times.	SNOMEDCT_US:202246002|UMLS:C0409412	hp.json	Recurrent dislocation of patellas	http://purl.obolibrary.org/obo/HP_0005001							
HP:0005003	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the capital femoral epiphysis	Absence or underdevelopment of the proximal epiphysis of the femur.	UMLS:C4025261	hp.json	Absent/small end part of innermost thighbone|Absent/underdeveloped end part of innermost thighbone	http://purl.obolibrary.org/obo/HP_0005003							
HP:0005004	biolink:PhenotypicFeature	Flattened proximal radial epiphyses	An abnormally flat form of the proximal epiphysis of the radius.	UMLS:C1849065	hp.json		http://purl.obolibrary.org/obo/HP_0005004							
HP:0005005	biolink:PhenotypicFeature	Femoral bowing present at birth, straightening with time	Congenital onset bending or abnormal curvature of the femur that normalizes with age.	UMLS:C1833754	hp.json	Bowing of thighbone at birth, straightening with time	http://purl.obolibrary.org/obo/HP_0005005							
HP:0005008	biolink:PhenotypicFeature	Large joint dislocations		UMLS:C4025260	hp.json	Large joint dislocations	http://purl.obolibrary.org/obo/HP_0005008							
HP:0005009	biolink:PhenotypicFeature	Dumbbell-shaped humerus	The humerus is shortened and displays flaring (widening) of the metaphyses.	UMLS:C4025259	hp.json	Dumbbell-shaped long bone in upper arm	http://purl.obolibrary.org/obo/HP_0005009							
HP:0005010	biolink:PhenotypicFeature	Osteomyelitis leading to amputation due to slow healing fractures		UMLS:C1864975	hp.json		http://purl.obolibrary.org/obo/HP_0005010							
HP:0005011	biolink:PhenotypicFeature	Mesomelic arm shortening	Shortening of the middle parts of the arm in relation to the upper and terminal segments.	UMLS:C1862087	hp.json	Mesomelia of the upper limbs|Upper limb brachymesomelia	http://purl.obolibrary.org/obo/HP_0005011							
HP:0005013	biolink:PhenotypicFeature	Dysplastic distal radial epiphyses	Abnormally developed (dysplastic) distal epiphysis of the radius.	UMLS:C1862131	hp.json		http://purl.obolibrary.org/obo/HP_0005013							
HP:0005017	biolink:PhenotypicFeature	Polyarticular chondrocalcinosis		UMLS:C4025258	hp.json		http://purl.obolibrary.org/obo/HP_0005017							
HP:0005019	biolink:PhenotypicFeature	Diaphyseal thickening		UMLS:C1835473	hp.json	Thickening of shaft or central part of long bones	http://purl.obolibrary.org/obo/HP_0005019							
HP:0005021	biolink:PhenotypicFeature	Bilateral elbow dislocations		UMLS:C3278429	hp.json	Dislocated elbows on both sides	http://purl.obolibrary.org/obo/HP_0005021							
HP:0005025	biolink:PhenotypicFeature	Hypoplastic distal humeri	Underdevelopment of the distal portion of the humerus.	UMLS:C1968607	hp.json		http://purl.obolibrary.org/obo/HP_0005025							
HP:0005026	biolink:PhenotypicFeature	Mesomelic/rhizomelic limb shortening		UMLS:C1866239	hp.json		http://purl.obolibrary.org/obo/HP_0005026							
HP:0005028	biolink:PhenotypicFeature	Widened proximal tibial metaphyses		UMLS:C1836187	hp.json	Wide innermost wide portion of shankbone bone|Wide innermost wide portion of shinbone bone	http://purl.obolibrary.org/obo/HP_0005028							
HP:0005033	biolink:PhenotypicFeature	Distal ulnar hypoplasia	Underdevelopment of the distal portion of the ulna.	UMLS:C1833145	hp.json	Distal shortening of ulna|Hypoplastic distal ulna	http://purl.obolibrary.org/obo/HP_0005033							
HP:0005035	biolink:PhenotypicFeature	Shortening of all phalanges of the toes	Developmental hypoplasia (shortening) of all phalanges of the foot.	UMLS:C4025257	hp.json	Short toe bones	http://purl.obolibrary.org/obo/HP_0005035							
HP:0005036	biolink:PhenotypicFeature	Unilateral ulnar hypoplasia	Underdevelopment of the ulna on only one side.	UMLS:C1837832	hp.json		http://purl.obolibrary.org/obo/HP_0005036							
HP:0005037	biolink:PhenotypicFeature	Proximal radio-ulnar synostosis	An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.	UMLS:C2676443	hp.json		http://purl.obolibrary.org/obo/HP_0005037							
HP:0005039	biolink:PhenotypicFeature	Multiple long-bone exostoses	Multiple exostoses originating in long bones.	UMLS:C1835583	hp.json	Multiple exostoses of long tubular bones	http://purl.obolibrary.org/obo/HP_0005039							
HP:0005041	biolink:PhenotypicFeature	Irregular capital femoral epiphysis	Irregular surface of the normally relatively smooth capital femoral epiphysis.	UMLS:C4020825	hp.json	Irregular end part of innermost thighbone|Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0005041							
HP:0005042	biolink:PhenotypicFeature	Irregular, rachitic-like metaphyses		UMLS:C1866700	hp.json		http://purl.obolibrary.org/obo/HP_0005042							
HP:0005043	biolink:PhenotypicFeature	Proximal humeral metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).	UMLS:C1865128	hp.json	Irregular proximal humeral metaphyses	http://purl.obolibrary.org/obo/HP_0005043							
HP:0005045	biolink:PhenotypicFeature	Diaphyseal cortical sclerosis	An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C1833739	hp.json		http://purl.obolibrary.org/obo/HP_0005045							
HP:0005048	biolink:PhenotypicFeature	Synostosis of carpal bones		UMLS:C1836193	hp.json	Fusion of wrist bones	http://purl.obolibrary.org/obo/HP_0005048							
HP:0005050	biolink:PhenotypicFeature	Anterolateral radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.	UMLS:C1968610	hp.json	Anterior/lateral radial head dislocation	http://purl.obolibrary.org/obo/HP_0005050							
HP:0005054	biolink:PhenotypicFeature	Metaphyseal spurs	Bony outgrowths that extend laterally from the margin of the metaphysis.	UMLS:C1832988	hp.json		http://purl.obolibrary.org/obo/HP_0005054							
HP:0005059	biolink:PhenotypicFeature	Arthralgia/arthritis		UMLS:C4025256	hp.json	Joint pain/Joint inflammation	http://purl.obolibrary.org/obo/HP_0005059							
HP:0005060	biolink:PhenotypicFeature	Limited elbow flexion/extension		UMLS:C1968605	hp.json		http://purl.obolibrary.org/obo/HP_0005060							
HP:0005063	biolink:PhenotypicFeature	Fragmented, irregular epiphyses		UMLS:C1867494	hp.json	Fragmented, irregular end part of bone	http://purl.obolibrary.org/obo/HP_0005063							
HP:0005066	biolink:PhenotypicFeature	Cone-shaped epiphyses fused within their metaphyses		UMLS:C4025255	hp.json	Cone-shaped end part of long bone fused within their wide portion of wide bone	http://purl.obolibrary.org/obo/HP_0005066							
HP:0005067	biolink:PhenotypicFeature	Proximal fibular overgrowth	Overgrowth of the proximal part of the fibula.	UMLS:C2673395	hp.json	Overgrowth of innermost part of calf bone	http://purl.obolibrary.org/obo/HP_0005067							
HP:0005068	biolink:PhenotypicFeature	Absent styloid process of ulna		UMLS:C4025254	hp.json		http://purl.obolibrary.org/obo/HP_0005068							
HP:0005069	biolink:PhenotypicFeature	Rhizo-meso-acromelic limb shortening		UMLS:C2673654	hp.json		http://purl.obolibrary.org/obo/HP_0005069							
HP:0005070	biolink:PhenotypicFeature	Proximal radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.	UMLS:C1865570	hp.json		http://purl.obolibrary.org/obo/HP_0005070							
HP:0005072	biolink:PhenotypicFeature	Hyperextensibility at wrists	The ability of the wrist joints to move beyond their normal range of motion.	UMLS:C1850853	hp.json	Increased wrist mobility|Increased laxity of wrists	http://purl.obolibrary.org/obo/HP_0005072							
HP:0005084	biolink:PhenotypicFeature	Anterior radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.	UMLS:C2674451	hp.json	Anterior dislocation of radial head	http://purl.obolibrary.org/obo/HP_0005084							
HP:0005085	biolink:PhenotypicFeature	Limited knee flexion/extension	A limited ability of the knee joint to perform extension and flexion.	UMLS:C1968606	hp.json		http://purl.obolibrary.org/obo/HP_0005085							
HP:0005086	biolink:PhenotypicFeature	Knee osteoarthritis		MSH:D020370|SNOMEDCT_US:239873007|UMLS:C0409959	hp.json		http://purl.obolibrary.org/obo/HP_0005086							
HP:0005089	biolink:PhenotypicFeature	Abnormal metaphyseal trabeculation	An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.	UMLS:C1857139	hp.json		http://purl.obolibrary.org/obo/HP_0005089							
HP:0005090	biolink:PhenotypicFeature	Lateral femoral bowing	A lateral bending or abnormal curvature of the femur.	UMLS:C1866737	hp.json		http://purl.obolibrary.org/obo/HP_0005090							
HP:0005092	biolink:PhenotypicFeature	Streaky metaphyseal sclerosis	The presence of streaks (bands) of abnormally increased density of metaphyseal bone.	UMLS:C4025253	hp.json	Streak increase in bone density in wide portion of wide bone	http://purl.obolibrary.org/obo/HP_0005092							
HP:0005093	biolink:PhenotypicFeature	Absent proximal radial epiphyses	Absence of the proximal radial epiphysis.	UMLS:C1855301	hp.json		http://purl.obolibrary.org/obo/HP_0005093							
HP:0005096	biolink:PhenotypicFeature	Distal femoral bowing	A bending or abnormal curvature of the distal portion of the femur.	UMLS:C1860107	hp.json		http://purl.obolibrary.org/obo/HP_0005096							
HP:0005099	biolink:PhenotypicFeature	Severe hydrops fetalis		UMLS:C1866048	hp.json	Severe hydrops	http://purl.obolibrary.org/obo/HP_0005099							
HP:0005100	biolink:PhenotypicFeature	Premature birth following premature rupture of fetal membranes		UMLS:C1851833	hp.json	Premature birth following premature rupture of foetal membranes	http://purl.obolibrary.org/obo/HP_0005100							
HP:0005101	biolink:PhenotypicFeature	High-frequency hearing impairment	A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).	MSH:D006316|SNOMEDCT_US:232326009|SNOMEDCT_US:48758008|UMLS:C0018780	hp.json	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							
HP:0005102	biolink:PhenotypicFeature	Cochlear degeneration	Deterioration or loss of the tissues of the cochlea.	UMLS:C1849095	hp.json	Progressive cochlear degeneration	http://purl.obolibrary.org/obo/HP_0005102							
HP:0005103	biolink:PhenotypicFeature	Calcification of the auricular cartilage	Ossification affecting the external ear cartilage.	UMLS:C1408806	hp.json	Cartilaginous ossification of pinnae|Ossification of pinnae|Petrified ear|Ear cartilage calcification	http://purl.obolibrary.org/obo/HP_0005103							
HP:0005104	biolink:PhenotypicFeature	Hypoplastic nasal septum	Underdevelopment of the nasal septum.	UMLS:C1861328	hp.json	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							
HP:0005105	biolink:PhenotypicFeature	Abnormal nasal morphology		Fyler:4870|UMLS:C4025252	hp.json	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	biolink:PhenotypicFeature	Abnormality of the vertebral endplates	Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.	UMLS:C4025251	hp.json		http://purl.obolibrary.org/obo/HP_0005106							
HP:0005107	biolink:PhenotypicFeature	Abnormal sacrum morphology	An abnormality of the sacral bone.	UMLS:C4025250	hp.json	Abnormality of the sacrum	http://purl.obolibrary.org/obo/HP_0005107							hposlim_core
HP:0005108	biolink:PhenotypicFeature	Abnormality of the intervertebral disk	An abnormality of the intervertebral disk.	UMLS:C4025249	hp.json	Abnormality of the intervertebral disc	http://purl.obolibrary.org/obo/HP_0005108							hposlim_core
HP:0005109	biolink:PhenotypicFeature	Abnormality of the Achilles tendon	An abnormality of the Achilles tendon.	UMLS:C4021642	hp.json	Abnormality of the Achilles tendon|Abnormality of the calcaneal tendon	http://purl.obolibrary.org/obo/HP_0005109							
HP:0005110	biolink:PhenotypicFeature	Atrial fibrillation	An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.	MSH:D001281|SNOMEDCT_US:49436004|UMLS:C0004238	hp.json	Quivering upper heart chambers resulting in irregular heartbeat	http://purl.obolibrary.org/obo/HP_0005110							
HP:0005111	biolink:PhenotypicFeature	obsolete Dilatation of the ascending aorta			hp.json		http://purl.obolibrary.org/obo/HP_0005111							
HP:0005112	biolink:PhenotypicFeature	Abdominal aortic aneurysm	An abnormal localized widening (dilatation) of the abdominal aorta.	UMLS:C4025248	hp.json	Dilatation of the abdominal aorta	http://purl.obolibrary.org/obo/HP_0005112							
HP:0005113	biolink:PhenotypicFeature	Aortic arch aneurysm	An abnormal localized widening (dilatation) of the aortic arch.	Fyler:2706|UMLS:C1851119	hp.json	Aortic arch dilatation|Dilatation of the aortic arch	http://purl.obolibrary.org/obo/HP_0005113							
HP:0005114	biolink:PhenotypicFeature	obsolete Abnormalities of the peripheral arteries			hp.json		http://purl.obolibrary.org/obo/HP_0005114							
HP:0005115	biolink:PhenotypicFeature	Supraventricular arrhythmia	A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.	SNOMEDCT_US:72654001|UMLS:C0428974	hp.json	arrhythmias, Supraventricular	http://purl.obolibrary.org/obo/HP_0005115							
HP:0005116	biolink:PhenotypicFeature	Arterial tortuosity	Abnormal tortuous (i.e., twisted) form of arteries.	UMLS:C3279191	hp.json		http://purl.obolibrary.org/obo/HP_0005116							
HP:0005117	biolink:PhenotypicFeature	Elevated diastolic blood pressure	Abnormal increase in diastolic blood pressure.	UMLS:C1840375	hp.json	Elevated diastolic BP	http://purl.obolibrary.org/obo/HP_0005117							
HP:0005120	biolink:PhenotypicFeature	Abnormal cardiac atrium morphology	Any structural abnormality of a cardiac atrium.	UMLS:C4025246	hp.json	Abnormality of heart atrium|Abnormality of cardiac atrium morphology	http://purl.obolibrary.org/obo/HP_0005120							
HP:0005121	biolink:PhenotypicFeature	Posterior scalloping of vertebral bodies	An excessive concavity of the posterior surface of one or more vertebral bodies.	UMLS:C1850196	hp.json	Posterior vertebral body scalloping	http://purl.obolibrary.org/obo/HP_0005121							
HP:0005129	biolink:PhenotypicFeature	Congenital hypertrophy of left ventricle		UMLS:C1855901	hp.json		http://purl.obolibrary.org/obo/HP_0005129							
HP:0005130	biolink:PhenotypicFeature	obsolete Restrictive heart failure			hp.json		http://purl.obolibrary.org/obo/HP_0005130							
HP:0005132	biolink:PhenotypicFeature	Pericardial constriction	Compression of the heart caused by rigid, thickened, or fused pericardial membranes.	UMLS:C0240709	hp.json		http://purl.obolibrary.org/obo/HP_0005132							
HP:0005133	biolink:PhenotypicFeature	Right ventricular dilatation	Enlargement of the chamber of the right ventricle.	Fyler:1827|Fyler:2333|SNOMEDCT_US:253522006|UMLS:C0344893	hp.json	Dilated heart right ventricle	http://purl.obolibrary.org/obo/HP_0005133							
HP:0005134	biolink:PhenotypicFeature	Absence of the pulmonary valve	Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.	SNOMEDCT_US:6996004|UMLS:C0265831	hp.json	Absent pulmonary valve	http://purl.obolibrary.org/obo/HP_0005134							
HP:0005135	biolink:PhenotypicFeature	Abnormal T-wave	An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.	UMLS:C4025245	hp.json	EKG: T-wave abnormalities|T-wave abnormalities	http://purl.obolibrary.org/obo/HP_0005135							
HP:0005136	biolink:PhenotypicFeature	Mitral annular calcification	Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.	UMLS:C1835130	hp.json	Premature calcification of mitral annulus	http://purl.obolibrary.org/obo/HP_0005136							
HP:0005141	biolink:PhenotypicFeature	obsolete Episodes of ventricular tachycardia			hp.json		http://purl.obolibrary.org/obo/HP_0005141							
HP:0005143	biolink:PhenotypicFeature	Anomalous origin of right pulmonary artery from ascending aorta	The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.	SNOMEDCT_US:253634009|UMLS:C0345037	hp.json		http://purl.obolibrary.org/obo/HP_0005143							
HP:0005144	biolink:PhenotypicFeature	Ventricular septal hypertrophy	The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.	UMLS:C1845019	hp.json	Thickened interventricular septum	http://purl.obolibrary.org/obo/HP_0005144							
HP:0005145	biolink:PhenotypicFeature	Coronary artery stenosis	Abnormal narrowing of the coronary artery.	MSH:D023921|SNOMEDCT_US:233970002|UMLS:C0242231	hp.json	Narrowing of coronary artery	http://purl.obolibrary.org/obo/HP_0005145							
HP:0005146	biolink:PhenotypicFeature	Cardiac valve calcification	Abnormal calcification of a cardiac valve.	UMLS:C1856483	hp.json	Calcifications of the cardiac valves	http://purl.obolibrary.org/obo/HP_0005146							
HP:0005147	biolink:PhenotypicFeature	Bidirectional ventricular ectopy		UMLS:C1969410	hp.json		http://purl.obolibrary.org/obo/HP_0005147							
HP:0005148	biolink:PhenotypicFeature	Pulmonary valve defects	Any defect in the valve connecting the heart and the pulmonary artery.	UMLS:C1860165	hp.json		http://purl.obolibrary.org/obo/HP_0005148							
HP:0005150	biolink:PhenotypicFeature	Abnormal atrioventricular conduction	An impairment of the electrical continuity between the atria and ventricles.	UMLS:C4025244	hp.json		http://purl.obolibrary.org/obo/HP_0005150							
HP:0005151	biolink:PhenotypicFeature	Preductal coarctation of the aorta	Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.	SNOMEDCT_US:13867009|UMLS:C0265878	hp.json	Proximal aortic coarctation	http://purl.obolibrary.org/obo/HP_0005151							
HP:0005152	biolink:PhenotypicFeature	Histiocytoid cardiomyopathy	A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.	MSH:C535584|UMLS:C1708371	hp.json	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							
HP:0005155	biolink:PhenotypicFeature	Ventricular escape rhythm	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).	SNOMEDCT_US:81898007|UMLS:C0232216	hp.json	Idioventricular escape rhythm	http://purl.obolibrary.org/obo/HP_0005155							
HP:0005156	biolink:PhenotypicFeature	Hypoplastic left atrium	Underdeveloped, small left heart atrium	Fyler:3040|UMLS:C1970625	hp.json	Left atrium hypoplasia|Underdeveloped left heart atrium	http://purl.obolibrary.org/obo/HP_0005156							
HP:0005157	biolink:PhenotypicFeature	Concentric hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.	UMLS:C0238044	hp.json	Symmetric, concentric, hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/HP_0005157							
HP:0005160	biolink:PhenotypicFeature	Total anomalous pulmonary venous return	Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.	Fyler:0900|Fyler:900|MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400	hp.json	Total anomalous pulmonary venous connection|Total anomalous pulmonary venous drainage	http://purl.obolibrary.org/obo/HP_0005160							
HP:0005162	biolink:PhenotypicFeature	Abnormal left ventricular function	Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.	MSH:D006333|SNOMEDCT_US:275514001|SNOMEDCT_US:85232009|UMLS:C0023212|UMLS:C0553982	hp.json	Impaired left ventricular function|Left ventricular dysfunction|Left ventricular failure|Left ventricular impairment|Left-sided heart failure	http://purl.obolibrary.org/obo/HP_0005162							
HP:0005164	biolink:PhenotypicFeature	Dysplastic pulmonary valve	A congenital malformation of the pulmonary valve characterized by leaflet deformation.	UMLS:C1866206	hp.json		http://purl.obolibrary.org/obo/HP_0005164							
HP:0005165	biolink:PhenotypicFeature	Shortened PR interval	Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.	SNOMEDCT_US:49578007|UMLS:C0520878	hp.json	Electrocardiographic short PR interval|Short P-R interval|Shortened PR interval on EKG	http://purl.obolibrary.org/obo/HP_0005165							
HP:0005168	biolink:PhenotypicFeature	Elevated right atrial pressure	An abnormal increase in magnitude of the pressure in the right atrium.	UMLS:C1867421	hp.json		http://purl.obolibrary.org/obo/HP_0005168							
HP:0005170	biolink:PhenotypicFeature	Complete heart block with broad QRS complexes	A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.	UMLS:C1861987	hp.json		http://purl.obolibrary.org/obo/HP_0005170							
HP:0005172	biolink:PhenotypicFeature	Left posterior fascicular block	Conduction block in the posterior division of the left bundle branch of the bundle of His.	SNOMEDCT_US:62026008|UMLS:C0264913	hp.json	Left posterior hemiblock	http://purl.obolibrary.org/obo/HP_0005172							
HP:0005173	biolink:PhenotypicFeature	obsolete Calcific aortic valve stenosis			hp.json		http://purl.obolibrary.org/obo/HP_0005173							
HP:0005174	biolink:PhenotypicFeature	Membranous subvalvular aortic stenosis	Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.	UMLS:C1848978	hp.json		http://purl.obolibrary.org/obo/HP_0005174							
HP:0005176	biolink:PhenotypicFeature	Dysplastic aortic valve	A congenital malformation of the aortic valve characterized by leaflet deformation.	UMLS:C1866207	hp.json		http://purl.obolibrary.org/obo/HP_0005176							
HP:0005177	biolink:PhenotypicFeature	Premature arteriosclerosis	Arteriosclerosis occurring at an age that is younger than usual.	UMLS:C1848486|UMLS:C4280503	hp.json	Premature hardening of arteries	http://purl.obolibrary.org/obo/HP_0005177							
HP:0005178	biolink:PhenotypicFeature	Complete heart block with narrow QRS complexes	A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.	UMLS:C1841661	hp.json		http://purl.obolibrary.org/obo/HP_0005178							
HP:0005180	biolink:PhenotypicFeature	Tricuspid regurgitation	Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.	Fyler:1161|MSH:D014262|SNOMEDCT_US:111287006|UMLS:C0040961	hp.json	Tricuspid insufficiency|Tricuspid valve regurgitation	http://purl.obolibrary.org/obo/HP_0005180							
HP:0005181	biolink:PhenotypicFeature	Premature coronary artery atherosclerosis	Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.	UMLS:C1867743	hp.json	Premature coronary artery disease	http://purl.obolibrary.org/obo/HP_0005181							
HP:0005182	biolink:PhenotypicFeature	Bicuspid pulmonary valve	The presence of a bicuspid pulmonary valve.	Fyler:1601|SNOMEDCT_US:253599005|UMLS:C0344987	hp.json		http://purl.obolibrary.org/obo/HP_0005182							
HP:0005183	biolink:PhenotypicFeature	Pericardial lymphangiectasia	An abnormal dilatation of lymph vessels in the pericardium.	UMLS:C1856140	hp.json		http://purl.obolibrary.org/obo/HP_0005183							
HP:0005184	biolink:PhenotypicFeature	Prolonged QTc interval	A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.	UMLS:C1560305	hp.json		http://purl.obolibrary.org/obo/HP_0005184							
HP:0005185	biolink:PhenotypicFeature	Global systolic dysfunction	A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.	UMLS:C1847397	hp.json		http://purl.obolibrary.org/obo/HP_0005185							
HP:0005186	biolink:PhenotypicFeature	Synovial hypertrophy		MSH:D013585|SNOMEDCT_US:240206002|UMLS:C0410574	hp.json		http://purl.obolibrary.org/obo/HP_0005186							
HP:0005187	biolink:PhenotypicFeature	Progressive joint destruction		UMLS:C4025243	hp.json		http://purl.obolibrary.org/obo/HP_0005187							
HP:0005190	biolink:PhenotypicFeature	Proximal finger joint hyperextensibility		UMLS:C4025242	hp.json		http://purl.obolibrary.org/obo/HP_0005190							
HP:0005191	biolink:PhenotypicFeature	Congenital knee dislocation		SNOMEDCT_US:59068006|UMLS:C0265669	hp.json	Dislocated knee since birth	http://purl.obolibrary.org/obo/HP_0005191							
HP:0005193	biolink:PhenotypicFeature	Restricted large joint movement		UMLS:C4025241	hp.json		http://purl.obolibrary.org/obo/HP_0005193							
HP:0005194	biolink:PhenotypicFeature	Flattened metatarsal heads	Abnormally flat shape of the heads of the metatarsal bones.	UMLS:C4025240	hp.json	Flattened head of long bone of foot	http://purl.obolibrary.org/obo/HP_0005194							
HP:0005195	biolink:PhenotypicFeature	Polyarticular arthropathy		UMLS:C4025239	hp.json		http://purl.obolibrary.org/obo/HP_0005195							
HP:0005197	biolink:PhenotypicFeature	Generalized morning stiffness	A sensation of stiffness in the joints that occurs following waking up in the morning.	UMLS:C4025238	hp.json	Generalised morning stiffness	http://purl.obolibrary.org/obo/HP_0005197							
HP:0005198	biolink:PhenotypicFeature	Stiff interphalangeal joints	Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.	UMLS:C4025237	hp.json	Stiff hinge joints	http://purl.obolibrary.org/obo/HP_0005198							
HP:0005199	biolink:PhenotypicFeature	Aplasia of the abdominal wall musculature	Absence of the abdominal musculature.	UMLS:C3149223	hp.json	Absent abdominal musculature	http://purl.obolibrary.org/obo/HP_0005199							
HP:0005200	biolink:PhenotypicFeature	Retroperitoneal fibrosis		MSH:D012185|SNOMEDCT_US:49120005|UMLS:C0035357	hp.json		http://purl.obolibrary.org/obo/HP_0005200							
HP:0005201	biolink:PhenotypicFeature	Anomalous splenoportal venous system		UMLS:C4025236	hp.json		http://purl.obolibrary.org/obo/HP_0005201							
HP:0005202	biolink:PhenotypicFeature	Helicobacter pylori infection	A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.	UMLS:C0850666	hp.json		http://purl.obolibrary.org/obo/HP_0005202							
HP:0005203	biolink:PhenotypicFeature	Spontaneous esophageal perforation	The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.	MSH:C536571|SNOMEDCT_US:19995004|UMLS:C0238115	hp.json	Spontaneous esophageal rupture|Boerhaave syndrome	http://purl.obolibrary.org/obo/HP_0005203							
HP:0005206	biolink:PhenotypicFeature	Pancreatic pseudocyst	Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.	MSH:D010192|SNOMEDCT_US:111374002|UMLS:C0030299	hp.json		http://purl.obolibrary.org/obo/HP_0005206							
HP:0005207	biolink:PhenotypicFeature	Gastric hypertrophy	Hypertrophy of the stomach.	UMLS:C1834341|UMLS:C4280502	hp.json	Increased stomach size	http://purl.obolibrary.org/obo/HP_0005207							
HP:0005208	biolink:PhenotypicFeature	Secretory diarrhea	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	SNOMEDCT_US:15699003|UMLS:C0267557	hp.json	Secretory diarrhoea	http://purl.obolibrary.org/obo/HP_0005208							
HP:0005209	biolink:PhenotypicFeature	Intrahepatic bile duct cysts	The presence of cyst of the intrahepatic bile duct.	SNOMEDCT_US:235925007|UMLS:C0400991	hp.json		http://purl.obolibrary.org/obo/HP_0005209							
HP:0005210	biolink:PhenotypicFeature	Hypoplastic colon	Underdevelopment of the colon.	UMLS:C1392839	hp.json	Hypoplasia of the colon|Underdeveloped colon	http://purl.obolibrary.org/obo/HP_0005210							
HP:0005211	biolink:PhenotypicFeature	Midgut malrotation		UMLS:C1849706	hp.json		http://purl.obolibrary.org/obo/HP_0005211							
HP:0005212	biolink:PhenotypicFeature	Anal mucosal leukoplakia	Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.	UMLS:C1844632	hp.json		http://purl.obolibrary.org/obo/HP_0005212							
HP:0005213	biolink:PhenotypicFeature	Pancreatic calcification	The presence of abnormal calcium deposition lesions in the pancreas.	UMLS:C1842406	hp.json	Pancreatic calcifications	http://purl.obolibrary.org/obo/HP_0005213							
HP:0005214	biolink:PhenotypicFeature	Intestinal obstruction	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.	MSH:D007415|SNOMEDCT_US:81060008|UMLS:C0021843	hp.json	Bowel obstruction|Intestinal blockage|Intestinal obstruction	http://purl.obolibrary.org/obo/HP_0005214							
HP:0005215	biolink:PhenotypicFeature	Frequent Giardia lamblia infestation	Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.	UMLS:C4025235	hp.json		http://purl.obolibrary.org/obo/HP_0005215							
HP:0005216	biolink:PhenotypicFeature	Impaired mastication	An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.	SNOMEDCT_US:162020001|UMLS:C0239043	hp.json	Chewing difficulties|Chewing difficulty|Difficulty chewing	http://purl.obolibrary.org/obo/HP_0005216							
HP:0005217	biolink:PhenotypicFeature	Duplication of internal organs		UMLS:C4025234	hp.json		http://purl.obolibrary.org/obo/HP_0005217							
HP:0005218	biolink:PhenotypicFeature	Anoperineal fistula	The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.	UMLS:C1835798	hp.json	Perianal fistula	http://purl.obolibrary.org/obo/HP_0005218							
HP:0005219	biolink:PhenotypicFeature	Absence of intrinsic factor	Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.	UMLS:C4021641	hp.json	Intrinsic factor absent from gastric juice	http://purl.obolibrary.org/obo/HP_0005219							
HP:0005220	biolink:PhenotypicFeature	Multiple intestinal neurofibromatosis		UMLS:C4025233	hp.json		http://purl.obolibrary.org/obo/HP_0005220							
HP:0005222	biolink:PhenotypicFeature	Bowel diverticulosis	The presence of multiple diverticula of the intestine.	UMLS:C1394691|UMLS:C1395674	hp.json	Bowel diverticula	http://purl.obolibrary.org/obo/HP_0005222							
HP:0005223	biolink:PhenotypicFeature	Duplicated colon		UMLS:C1850328	hp.json		http://purl.obolibrary.org/obo/HP_0005223							
HP:0005224	biolink:PhenotypicFeature	Rectal abscess	A collection of pus in the area of the rectum.	SNOMEDCT_US:197166005|SNOMEDCT_US:91669008|UMLS:C0149770|UMLS:C0267566	hp.json	Perirectal abscess	http://purl.obolibrary.org/obo/HP_0005224							
HP:0005225	biolink:PhenotypicFeature	Intestinal edema	Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.	UMLS:C1142262	hp.json	Intestinal oedema	http://purl.obolibrary.org/obo/HP_0005225							
HP:0005227	biolink:PhenotypicFeature	Adenomatous colonic polyposis	Presence of multiple adenomatous polyps in the colon.	MEDDRA:10056981|UMLS:C1868071	hp.json	Multiple adenomatous colon polyps|Multiple colonic adenomatous polyps	http://purl.obolibrary.org/obo/HP_0005227							
HP:0005229	biolink:PhenotypicFeature	Jejunoileal ulceration		UMLS:C4025232	hp.json		http://purl.obolibrary.org/obo/HP_0005229							
HP:0005230	biolink:PhenotypicFeature	Biliary tract obstruction	Obstruction affecting the biliary tree.	SNOMEDCT_US:235918000|UMLS:C0400979	hp.json		http://purl.obolibrary.org/obo/HP_0005230							
HP:0005231	biolink:PhenotypicFeature	Chronic gastritis	A chronic form of gastritis.	SNOMEDCT_US:8493009|UMLS:C0085695	hp.json		http://purl.obolibrary.org/obo/HP_0005231							
HP:0005232	biolink:PhenotypicFeature	Pancreatic dysplasia	The presence of developmental dysplasia of the pancreas.	UMLS:C4019084	hp.json		http://purl.obolibrary.org/obo/HP_0005232							
HP:0005233	biolink:PhenotypicFeature	Hypoplasia of the gallbladder	The presence of a hypoplastic gallbladder.	SNOMEDCT_US:93259002|UMLS:C0345282	hp.json	Hypoplastic gallbladder	http://purl.obolibrary.org/obo/HP_0005233							
HP:0005234	biolink:PhenotypicFeature	Neonatal intestinal obstruction		UMLS:C0859974	hp.json		http://purl.obolibrary.org/obo/HP_0005234							
HP:0005235	biolink:PhenotypicFeature	Jejunal atresia	A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.	MSH:D007409|SNOMEDCT_US:204702007|SNOMEDCT_US:360491009|UMLS:C0266175	hp.json		http://purl.obolibrary.org/obo/HP_0005235							
HP:0005236	biolink:PhenotypicFeature	Chronic calcifying pancreatitis	A form of chronic pancreatitis that is characterized by calcification.	UMLS:C4025231	hp.json		http://purl.obolibrary.org/obo/HP_0005236							
HP:0005237	biolink:PhenotypicFeature	Degenerative liver disease	The presence of degenerative changes of the liver.	UMLS:C4025230	hp.json		http://purl.obolibrary.org/obo/HP_0005237							
HP:0005238	biolink:PhenotypicFeature	Discrete intestinal polyps		UMLS:C4025229	hp.json		http://purl.obolibrary.org/obo/HP_0005238							
HP:0005240	biolink:PhenotypicFeature	Esophageal obstruction		SNOMEDCT_US:405247003|UMLS:C0239296	hp.json		http://purl.obolibrary.org/obo/HP_0005240							
HP:0005241	biolink:PhenotypicFeature	Total intestinal aganglionosis	A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.	MSH:C538058|SNOMEDCT_US:204745000|UMLS:C0345240	hp.json		http://purl.obolibrary.org/obo/HP_0005241							
HP:0005242	biolink:PhenotypicFeature	Extrahepatic biliary duct atresia	Atresia in the extrahepatic bile duct.	MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008|UMLS:C0005411	hp.json	Biliary atresia, extrahepatic	http://purl.obolibrary.org/obo/HP_0005242							
HP:0005243	biolink:PhenotypicFeature	Partial abdominal muscle agenesis	Failure to form of portions of the abdominal musculature.	UMLS:C4025228	hp.json		http://purl.obolibrary.org/obo/HP_0005243							
HP:0005244	biolink:PhenotypicFeature	Gastrointestinal infarctions		UMLS:C3152231	hp.json	GI infarctions|Death of digestive organ tissue due to poor blood supply	http://purl.obolibrary.org/obo/HP_0005244							
HP:0005245	biolink:PhenotypicFeature	Intestinal hypoplasia	Developmental hypoplasia of the intestine.	UMLS:C4021640	hp.json	Underdeveloped instestine|Hypoplastic intestines	http://purl.obolibrary.org/obo/HP_0005245							
HP:0005246	biolink:PhenotypicFeature	Giant hypertrophic gastritis	A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.	MSH:D005758|SNOMEDCT_US:413219009|SNOMEDCT_US:60002000|UMLS:C0017155	hp.json	Menetrier disease	http://purl.obolibrary.org/obo/HP_0005246							
HP:0005247	biolink:PhenotypicFeature	Hypoplasia of the abdominal wall musculature	Underdevelopment of the abdominal musculature.	UMLS:C3279407	hp.json	Abdominal muscular hypoplasia	http://purl.obolibrary.org/obo/HP_0005247							
HP:0005248	biolink:PhenotypicFeature	Intrahepatic biliary atresia	Atresia in the intrahepatic bile duct.	UMLS:C1855284	hp.json	Bile duct paucity|Intrahepatic atresia of biliary duct	http://purl.obolibrary.org/obo/HP_0005248							
HP:0005249	biolink:PhenotypicFeature	Functional intestinal obstruction		UMLS:C3639956	hp.json		http://purl.obolibrary.org/obo/HP_0005249							
HP:0005250	biolink:PhenotypicFeature	High intestinal obstruction		UMLS:C4025227	hp.json		http://purl.obolibrary.org/obo/HP_0005250							
HP:0005253	biolink:PhenotypicFeature	Increased anterioposterior diameter of thorax		UMLS:C1848760	hp.json	Increased anterioposterior diameter of chest	http://purl.obolibrary.org/obo/HP_0005253							
HP:0005254	biolink:PhenotypicFeature	Unilateral chest hypoplasia		UMLS:C1845576	hp.json	Small chest on one side|Underdeveloped chest on one side	http://purl.obolibrary.org/obo/HP_0005254							
HP:0005255	biolink:PhenotypicFeature	Absence of pectoralis minor muscle	Aplasia (congenital absence) of the pectoralis minor.	UMLS:C1868158	hp.json	Pectoralis minor aplasia	http://purl.obolibrary.org/obo/HP_0005255							
HP:0005256	biolink:PhenotypicFeature	Unilateral absence of pectoralis major muscle	Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.	UMLS:C4021639	hp.json	Unilateral aplasia of pectoralis major muscle	http://purl.obolibrary.org/obo/HP_0005256							
HP:0005257	biolink:PhenotypicFeature	Thoracic hypoplasia		UMLS:C1837482	hp.json	Small chest|Small thorax	http://purl.obolibrary.org/obo/HP_0005257							
HP:0005258	biolink:PhenotypicFeature	Pectoral muscle hypoplasia/aplasia		UMLS:C4025226	hp.json	Small/absent pec muscle|Underdeveloped/absent pec muscle	http://purl.obolibrary.org/obo/HP_0005258							
HP:0005259	biolink:PhenotypicFeature	Abnormal facility in opposing the shoulders		UMLS:C1861517	hp.json		http://purl.obolibrary.org/obo/HP_0005259							
HP:0005261	biolink:PhenotypicFeature	Joint hemorrhage	Hemorrhage occurring within a joint.	MSH:D006395|SNOMEDCT_US:81808003|UMLS:C0018924	hp.json	Bleeding within a joint|Hemarthrosis|Spontaneous joint haemorrhage|Hemarthroses|Joint haemorrhage|Spontaneous joint hemorrhage	http://purl.obolibrary.org/obo/HP_0005261							
HP:0005262	biolink:PhenotypicFeature	Abnormality of the synovia		UMLS:C4025225	hp.json		http://purl.obolibrary.org/obo/HP_0005262							
HP:0005263	biolink:PhenotypicFeature	Gastritis	The presence of inflammation of the gastric mucous membrane.	MEDDRA:10017853|MSH:D005756|SNOMEDCT_US:4556007|UMLS:C0017152	hp.json	Stomach inflammation	http://purl.obolibrary.org/obo/HP_0005263							hposlim_core
HP:0005264	biolink:PhenotypicFeature	Abnormality of the gallbladder	An abnormality of the gallbladder.	SNOMEDCT_US:253803008|SNOMEDCT_US:49714001|UMLS:C0266249	hp.json	Abnormality of the gallbladder|Anomaly of the gallbladder	http://purl.obolibrary.org/obo/HP_0005264							
HP:0005265	biolink:PhenotypicFeature	Abnormal jejunum morphology	An abnormality of the jejunum, i.e., of the middle section of the small intestine.	UMLS:C4025224	hp.json	Abnormality of the jejunum	http://purl.obolibrary.org/obo/HP_0005265							
HP:0005266	biolink:PhenotypicFeature	Intestinal polyp	A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.	MSH:D007417|SNOMEDCT_US:254588001|UMLS:C0021846	hp.json	Intestinal polyps	http://purl.obolibrary.org/obo/HP_0005266							
HP:0005267	biolink:PhenotypicFeature	Premature delivery because of cervical insufficiency or membrane fragility		UMLS:C1851808	hp.json		http://purl.obolibrary.org/obo/HP_0005267							
HP:0005268	biolink:PhenotypicFeature	Spontaneous abortion	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.	MSH:D000022|SNOMEDCT_US:17369002|UMLS:C0000786	hp.json	Miscarriage	http://purl.obolibrary.org/obo/HP_0005268							
HP:0005272	biolink:PhenotypicFeature	Prominent nasolabial fold	Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).	UMLS:C1866487	hp.json	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							hposlim_core
HP:0005273	biolink:PhenotypicFeature	Absent nasal septal cartilage	Lack of the cartilage of the nasal septum.	UMLS:C4021638|UMLS:C4280501	hp.json	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							hposlim_core
HP:0005274	biolink:PhenotypicFeature	Prominent nasal tip		UMLS:C1856118|UMLS:C4280498|UMLS:C4280499|UMLS:C4280500	hp.json	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	biolink:PhenotypicFeature	Cartilaginous ossification of nose		UMLS:C1855616	hp.json	Cartilaginous nasal ossification	http://purl.obolibrary.org/obo/HP_0005275							
HP:0005278	biolink:PhenotypicFeature	Hypoplastic nasal tip		UMLS:C1844731|UMLS:C4280496|UMLS:C4280497	hp.json	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	biolink:PhenotypicFeature	Depressed nasal bridge	Posterior positioning of the nasal root in relation to the overall facial profile for age.	UMLS:C1836542|UMLS:C3550546|UMLS:C4280495	hp.json	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							hposlim_core
HP:0005281	biolink:PhenotypicFeature	Hypoplastic nasal bridge		UMLS:C1865597|UMLS:C4280494	hp.json	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	biolink:PhenotypicFeature	Absent nasal bridge		UMLS:C1837888	hp.json	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	biolink:PhenotypicFeature	Abnormality of the nares	Abnormality of the nostril.	UMLS:C4021637	hp.json	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							hposlim_core
HP:0005289	biolink:PhenotypicFeature	Abnormality of the nasolabial region		UMLS:C4025223	hp.json	Anomaly of the nasolabial region|Deformity of the nasolabial region|Malformation of the nasolabial region	http://purl.obolibrary.org/obo/HP_0005289							
HP:0005290	biolink:PhenotypicFeature	Internal carotid artery hypoplasia		UMLS:C1855736|UMLS:C4280491|UMLS:C4280492|UMLS:C4280493	hp.json	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	biolink:PhenotypicFeature	Inflammatory arteriopathy		UMLS:C4025222	hp.json		http://purl.obolibrary.org/obo/HP_0005291							
HP:0005292	biolink:PhenotypicFeature	Intimal thickening in the coronary arteries		UMLS:C1968633	hp.json		http://purl.obolibrary.org/obo/HP_0005292							
HP:0005293	biolink:PhenotypicFeature	Venous insufficiency		MSH:D014689|SNOMEDCT_US:20696009|UMLS:C0042485	hp.json	Poorly functioning veins	http://purl.obolibrary.org/obo/HP_0005293							
HP:0005294	biolink:PhenotypicFeature	Arterial dissection	A separation (dissection) of the layers of an artery.	MSH:D000784|SNOMEDCT_US:233992003|SNOMEDCT_US:26845001|SNOMEDCT_US:710864009|SNOMEDCT_US:9406001|UMLS:C0002949	hp.json		http://purl.obolibrary.org/obo/HP_0005294							
HP:0005295	biolink:PhenotypicFeature	Pseudocoarctation of the aorta	Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.	SNOMEDCT_US:70602002|UMLS:C0345088	hp.json		http://purl.obolibrary.org/obo/HP_0005295							
HP:0005296	biolink:PhenotypicFeature	obsolete Occlusive vascular disease			hp.json		http://purl.obolibrary.org/obo/HP_0005296							
HP:0005297	biolink:PhenotypicFeature	Premature occlusive vascular stenosis	Peripheral arterial stenosis with onset before the age of 50 years.	UMLS:C1867457	hp.json		http://purl.obolibrary.org/obo/HP_0005297							
HP:0005298	biolink:PhenotypicFeature	obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia			hp.json		http://purl.obolibrary.org/obo/HP_0005298							
HP:0005299	biolink:PhenotypicFeature	obsolete Premature peripheral vascular disease			hp.json		http://purl.obolibrary.org/obo/HP_0005299							
HP:0005300	biolink:PhenotypicFeature	Nodular inflammatory vasculitis		UMLS:C4025219	hp.json		http://purl.obolibrary.org/obo/HP_0005300							
HP:0005301	biolink:PhenotypicFeature	Persistent left superior vena cava	A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.	SNOMEDCT_US:77978002|UMLS:C0265931	hp.json	PLSVC	http://purl.obolibrary.org/obo/HP_0005301							
HP:0005302	biolink:PhenotypicFeature	Carotid artery tortuosity	Abnormal tortuous (i.e., twisted) form of the carotid arteries.	SNOMEDCT_US:401051003|UMLS:C1303076	hp.json	Tortuous carotid arteries	http://purl.obolibrary.org/obo/HP_0005302							
HP:0005303	biolink:PhenotypicFeature	Aortic arch calcification	Calcification, that is, pathological deposition of calcium salts in the arch of aorta.	UMLS:C1969291	hp.json		http://purl.obolibrary.org/obo/HP_0005303							
HP:0005304	biolink:PhenotypicFeature	Hypoplastic pulmonary veins		UMLS:C1970501	hp.json	Underdeveloped lung veins	http://purl.obolibrary.org/obo/HP_0005304							
HP:0005305	biolink:PhenotypicFeature	Cerebral venous thrombosis	Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.	SNOMEDCT_US:95455008|UMLS:C0151945	hp.json	Blood clot in cerebral vein|Cerebral thrombosis|Cerebral vein thrombosis	http://purl.obolibrary.org/obo/HP_0005305							
HP:0005306	biolink:PhenotypicFeature	Capillary hemangioma	The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.	MSH:D018324|SNOMEDCT_US:195382003|SNOMEDCT_US:254206003|SNOMEDCT_US:402867006|SNOMEDCT_US:56975005|SNOMEDCT_US:83343001|UMLS:C0206733	hp.json	Strawberry birthmark|Capillary hemangioma	http://purl.obolibrary.org/obo/HP_0005306							hposlim_core
HP:0005307	biolink:PhenotypicFeature	Postural hypotension with compensatory tachycardia		UMLS:C1850438	hp.json		http://purl.obolibrary.org/obo/HP_0005307							
HP:0005308	biolink:PhenotypicFeature	Pulmonary artery vasoconstriction		UMLS:C1867424	hp.json		http://purl.obolibrary.org/obo/HP_0005308							
HP:0005309	biolink:PhenotypicFeature	obsolete Peripheral vascular insufficiency			hp.json		http://purl.obolibrary.org/obo/HP_0005309							
HP:0005310	biolink:PhenotypicFeature	Large vessel vasculitis	A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.	UMLS:C4025218	hp.json		http://purl.obolibrary.org/obo/HP_0005310							
HP:0005311	biolink:PhenotypicFeature	Agenesis of pulmonary vessels	A developmental defect characterized by the lack of formation of the pulmonary blood vessels.	UMLS:C1970630	hp.json	Absent lung vessels	http://purl.obolibrary.org/obo/HP_0005311							
HP:0005312	biolink:PhenotypicFeature	Pulmonary aterial intimal fibrosis	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.	UMLS:C4025217	hp.json		http://purl.obolibrary.org/obo/HP_0005312							
HP:0005313	biolink:PhenotypicFeature	Arterial fibromuscular dysplasia	An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.	MSH:D005352|SNOMEDCT_US:31653004|SNOMEDCT_US:359553002|UMLS:C0016052	hp.json		http://purl.obolibrary.org/obo/HP_0005313							
HP:0005314	biolink:PhenotypicFeature	Anomalous branches of internal carotid artery		UMLS:C1847886	hp.json		http://purl.obolibrary.org/obo/HP_0005314							
HP:0005315	biolink:PhenotypicFeature	obsolete Peripheral artery occlusive disease			hp.json		http://purl.obolibrary.org/obo/HP_0005315							
HP:0005316	biolink:PhenotypicFeature	Peripheral pulmonary vessel aplasia		UMLS:C1848877	hp.json		http://purl.obolibrary.org/obo/HP_0005316							
HP:0005317	biolink:PhenotypicFeature	Increased pulmonary vascular resistance	Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.	UMLS:C1867423	hp.json		http://purl.obolibrary.org/obo/HP_0005317							
HP:0005318	biolink:PhenotypicFeature	Cerebral vasculitis	Inflammation of the blood vessels within the brain.	MSH:D020293|SNOMEDCT_US:427020007|UMLS:C0238051	hp.json		http://purl.obolibrary.org/obo/HP_0005318							
HP:0005320	biolink:PhenotypicFeature	Lack of facial subcutaneous fat		UMLS:C3277426	hp.json	Lack of facial fat below the skin	http://purl.obolibrary.org/obo/HP_0005320							
HP:0005321	biolink:PhenotypicFeature	Mandibulofacial dysostosis	A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.	MSH:D008342|SNOMEDCT_US:82203000|UMLS:C0242387	hp.json	Treacher collins syndrome	http://purl.obolibrary.org/obo/HP_0005321							
HP:0005322	biolink:PhenotypicFeature	Prominent nasal septum		UMLS:C4025216|UMLS:C4280489|UMLS:C4280490	hp.json	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	biolink:PhenotypicFeature	Hemifacial hypertrophy	Unilateral overgrowth of facial tissues, including muscles, bones and skin.	MSH:C563014|MSH:D005621|SNOMEDCT_US:10394003|SNOMEDCT_US:697962004|UMLS:C0016719|UMLS:C1399354	hp.json	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							hposlim_core
HP:0005324	biolink:PhenotypicFeature	Disturbance of facial expression	An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.	UMLS:C4025215	hp.json	Disturbance of facial expression	http://purl.obolibrary.org/obo/HP_0005324							
HP:0005325	biolink:PhenotypicFeature	Extension of hair growth on temples to lateral eyebrow	A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.	UMLS:C1857455	hp.json	Unusual hairline with hair growth on temples extending to lateral eyebrow	http://purl.obolibrary.org/obo/HP_0005325							
HP:0005326	biolink:PhenotypicFeature	Hypoplastic philtrum	Underdevelopment of the philtrum.	UMLS:C1856886	hp.json	Small philtrum	http://purl.obolibrary.org/obo/HP_0005326							
HP:0005327	biolink:PhenotypicFeature	Loss of facial expression		UMLS:C1852476	hp.json	Loss of facial expression	http://purl.obolibrary.org/obo/HP_0005327							
HP:0005328	biolink:PhenotypicFeature	Progeroid facial appearance	A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.	UMLS:C1857710	hp.json	Premature aged appearance|Aged facial appearance|Prematurely aged face|Prematurely aged facial appearance|Wizened face	http://purl.obolibrary.org/obo/HP_0005328							
HP:0005329	biolink:PhenotypicFeature	Fixed facial expression		UMLS:C1855353	hp.json	Fixed facial expression|Unchanging facial expression	http://purl.obolibrary.org/obo/HP_0005329							
HP:0005332	biolink:PhenotypicFeature	Recurrent mandibular subluxations	Recurrent partial dislocations of the mandible.	UMLS:C1857011	hp.json		http://purl.obolibrary.org/obo/HP_0005332							
HP:0005335	biolink:PhenotypicFeature	Sleepy facial expression		UMLS:C4025214	hp.json	Sleepy facial expression|Somnolent facial expression	http://purl.obolibrary.org/obo/HP_0005335							
HP:0005336	biolink:PhenotypicFeature	Forehead hyperpigmentation		UMLS:C1969673	hp.json	Darkening of the forehead	http://purl.obolibrary.org/obo/HP_0005336							
HP:0005338	biolink:PhenotypicFeature	Sparse lateral eyebrow	Decreased density/number and/or decreased diameter of lateral eyebrow hairs.	UMLS:C1857206	hp.json	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							hposlim_core
HP:0005339	biolink:PhenotypicFeature	Abnormality of complement system	An abnormality of the complement system.	UMLS:C4025213	hp.json		http://purl.obolibrary.org/obo/HP_0005339							
HP:0005340	biolink:PhenotypicFeature	Spastic/hyperactive bladder		UMLS:C1836904	hp.json		http://purl.obolibrary.org/obo/HP_0005340							
HP:0005341	biolink:PhenotypicFeature	Autonomic bladder dysfunction	Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.	UMLS:C4025212	hp.json		http://purl.obolibrary.org/obo/HP_0005341							
HP:0005343	biolink:PhenotypicFeature	Hypoplasia of the bladder	Underdevelopment of the urinary bladder.	UMLS:C1855335	hp.json	Underdeveloped bladder|Hypoplastic bladder	http://purl.obolibrary.org/obo/HP_0005343							
HP:0005344	biolink:PhenotypicFeature	Abnormal carotid artery morphology	Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.	UMLS:C4025211	hp.json	Abnormality of the carotid arteries	http://purl.obolibrary.org/obo/HP_0005344							
HP:0005345	biolink:PhenotypicFeature	Abnormal vena cava morphology	An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.	UMLS:C4025210	hp.json	Abnormality of the vena cava	http://purl.obolibrary.org/obo/HP_0005345							
HP:0005346	biolink:PhenotypicFeature	Abnormal facial expression		UMLS:C4025209	hp.json	Abnormal facial expression	http://purl.obolibrary.org/obo/HP_0005346							
HP:0005347	biolink:PhenotypicFeature	Cartilaginous trachea		UMLS:C1863363	hp.json		http://purl.obolibrary.org/obo/HP_0005347							
HP:0005348	biolink:PhenotypicFeature	Inspiratory stridor	Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.	SNOMEDCT_US:58596002|UMLS:C0677600	hp.json		http://purl.obolibrary.org/obo/HP_0005348							
HP:0005349	biolink:PhenotypicFeature	Hypoplasia of the epiglottis	Hypoplasia of the epiglottis.	UMLS:C1396772	hp.json	Hypoplastic epiglottis	http://purl.obolibrary.org/obo/HP_0005349							
HP:0005352	biolink:PhenotypicFeature	Severe T-cell immunodeficiency	A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.	UMLS:C4025208	hp.json	Severe T-cell immunodeficiency	http://purl.obolibrary.org/obo/HP_0005352							
HP:0005353	biolink:PhenotypicFeature	Recurrent herpes	Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.	UMLS:C4025207	hp.json	Susceptibility to herpesvirus	http://purl.obolibrary.org/obo/HP_0005353							
HP:0005354	biolink:PhenotypicFeature	Lack of T cell function	Complete inability of T cells to perform their functions in cell-mediated immunity.	UMLS:C1849426	hp.json	Absent cellular immunity	http://purl.obolibrary.org/obo/HP_0005354							
HP:0005356	biolink:PhenotypicFeature	Decreased serum complement factor I	A reduced level of the complement component Factor I in circulation.	UMLS:C1970257	hp.json		http://purl.obolibrary.org/obo/HP_0005356							
HP:0005357	biolink:PhenotypicFeature	Defective B cell differentiation	Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.	UMLS:C1859624	hp.json		http://purl.obolibrary.org/obo/HP_0005357							
HP:0005359	biolink:PhenotypicFeature	Aplasia of the thymus	Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.	MSH:C536288|SNOMEDCT_US:702623002|SNOMEDCT_US:91918005|UMLS:C0685894	hp.json	Absent thymus|Athymia|Absent thymic shadow|Lack of thymic shadow	http://purl.obolibrary.org/obo/HP_0005359							
HP:0005360	biolink:PhenotypicFeature	Susceptibility to chickenpox	Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.	UMLS:C1855205	hp.json		http://purl.obolibrary.org/obo/HP_0005360							
HP:0005363	biolink:PhenotypicFeature	Humoral immunodeficiency	A general term referring to a defect in immunity resulting from impaired antibody production.	UMLS:C4025206	hp.json		http://purl.obolibrary.org/obo/HP_0005363							
HP:0005364	biolink:PhenotypicFeature	obsolete Severe viral infections			hp.json		http://purl.obolibrary.org/obo/HP_0005364							
HP:0005365	biolink:PhenotypicFeature	Severe B lymphocytopenia	A severe form of B lymphocytopenia in which the count of B cells is very low or absent.	UMLS:C1863715|UMLS:C4020824	hp.json	Absent B cells|Absence of B cells	http://purl.obolibrary.org/obo/HP_0005365							
HP:0005366	biolink:PhenotypicFeature	Recurrent streptococcus pneumoniae infections	Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.	UMLS:C2169794	hp.json		http://purl.obolibrary.org/obo/HP_0005366							
HP:0005368	biolink:PhenotypicFeature	Abnormality of humoral immunity	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.	UMLS:C3150510	hp.json	Defective humoral immunity	http://purl.obolibrary.org/obo/HP_0005368							
HP:0005369	biolink:PhenotypicFeature	Decreased serum complement factor H	A reduced level of the complement component Factor H in circulation.	UMLS:C1969222	hp.json		http://purl.obolibrary.org/obo/HP_0005369							
HP:0005372	biolink:PhenotypicFeature	Abnormality of B cell physiology	An abnormality of the physiological functioning of B cells.	UMLS:C1849242	hp.json	Abnormality of B cell physiology|Reduced B cell function	http://purl.obolibrary.org/obo/HP_0005372							
HP:0005374	biolink:PhenotypicFeature	Cellular immunodeficiency	An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.	UMLS:C1855204	hp.json		http://purl.obolibrary.org/obo/HP_0005374							
HP:0005375	biolink:PhenotypicFeature	obsolete Partial cellular immunodeficiency			hp.json		http://purl.obolibrary.org/obo/HP_0005375							
HP:0005376	biolink:PhenotypicFeature	Recurrent Haemophilus influenzae infections	Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.	UMLS:C4025204	hp.json	Recurrent H. influenzae infections	http://purl.obolibrary.org/obo/HP_0005376							
HP:0005379	biolink:PhenotypicFeature	obsolete Severe T lymphocytopenia			hp.json		http://purl.obolibrary.org/obo/HP_0005379							
HP:0005381	biolink:PhenotypicFeature	Recurrent meningococcal disease	Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.	UMLS:C1970263	hp.json	Increased susceptibility to neisseria meningitidis infections	http://purl.obolibrary.org/obo/HP_0005381							
HP:0005384	biolink:PhenotypicFeature	Defective B cell activation	A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of	UMLS:C1846551	hp.json		http://purl.obolibrary.org/obo/HP_0005384							
HP:0005386	biolink:PhenotypicFeature	Recurrent protozoan infections	Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.	UMLS:C4025202	hp.json		http://purl.obolibrary.org/obo/HP_0005386							
HP:0005387	biolink:PhenotypicFeature	Combined immunodeficiency	A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.	UMLS:C0494261	hp.json		http://purl.obolibrary.org/obo/HP_0005387							
HP:0005389	biolink:PhenotypicFeature	Depletion of components of the alternative complement pathway	An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.	UMLS:C1969220	hp.json		http://purl.obolibrary.org/obo/HP_0005389							
HP:0005390	biolink:PhenotypicFeature	Recurrent opportunistic infections	Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.	UMLS:C1832324	hp.json	Frequent opportunistic infections	http://purl.obolibrary.org/obo/HP_0005390							
HP:0005396	biolink:PhenotypicFeature	Susceptibility to coronavirus 229e	Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.	UMLS:C1852539	hp.json		http://purl.obolibrary.org/obo/HP_0005396							
HP:0005397	biolink:PhenotypicFeature	obsolete Exaggerated cellular immune processes			hp.json		http://purl.obolibrary.org/obo/HP_0005397							
HP:0005400	biolink:PhenotypicFeature	Reduction of neutrophil motility	An abnormal reduction of the cell motility of neutrophils.	UMLS:C4025201	hp.json		http://purl.obolibrary.org/obo/HP_0005400							
HP:0005401	biolink:PhenotypicFeature	Recurrent candida infections	An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.	UMLS:C1860128	hp.json	Frequent candida infections	http://purl.obolibrary.org/obo/HP_0005401							
HP:0005402	biolink:PhenotypicFeature	obsolete Primary T-lymphocyte immune abnormalities			hp.json		http://purl.obolibrary.org/obo/HP_0005402							
HP:0005403	biolink:PhenotypicFeature	T lymphocytopenia	An abnormally low count of T cells.	MSH:C536783|UMLS:C2931322	hp.json	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							
HP:0005404	biolink:PhenotypicFeature	Increased B cell count	An abnormal increase from the normal count of B cells.	UMLS:C1858972	hp.json	Increase in B cell count|Increase in B cell number|Increased number of B cells	http://purl.obolibrary.org/obo/HP_0005404							
HP:0005406	biolink:PhenotypicFeature	Recurrent bacterial skin infections	Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.	UMLS:C1835686	hp.json	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							
HP:0005407	biolink:PhenotypicFeature	Decreased proportion of CD4-positive helper T cells	A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.	UMLS:C1839304	hp.json	Abnormality of CD4+ T cells|CD4 T cell lymphopenia|CD4+ T-cell lymphopenia	http://purl.obolibrary.org/obo/HP_0005407							
HP:0005409	biolink:PhenotypicFeature	obsolete Markedly reduced T cell function			hp.json		http://purl.obolibrary.org/obo/HP_0005409							
HP:0005411	biolink:PhenotypicFeature	Chronic intestinal candidiasis	Persistent overgrowth of Candida albicans in the gastrointestinal tract.	UMLS:C4020823|UMLS:C4025199	hp.json	Candida overgrowth syndrome	http://purl.obolibrary.org/obo/HP_0005411							
HP:0005413	biolink:PhenotypicFeature	Increased alpha-globulin	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.	SNOMEDCT_US:124022007|UMLS:C1167806	hp.json		http://purl.obolibrary.org/obo/HP_0005413							
HP:0005415	biolink:PhenotypicFeature	Decreased proportion of CD8-positive T cells	A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.	UMLS:C1839305	hp.json	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							
HP:0005416	biolink:PhenotypicFeature	Decreased serum complement factor B	A reduced level of the complement component factor B in circulation.	UMLS:C4021636	hp.json	Decreased serum factor b	http://purl.obolibrary.org/obo/HP_0005416							
HP:0005419	biolink:PhenotypicFeature	Decreased T cell activation	Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	UMLS:C1846550	hp.json	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							
HP:0005420	biolink:PhenotypicFeature	Recurrent gram-negative bacterial infections	Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.	UMLS:C4025198	hp.json		http://purl.obolibrary.org/obo/HP_0005420							
HP:0005421	biolink:PhenotypicFeature	Decreased serum complement C3	A reduced level of the complement component C3 in circulation.	UMLS:C1837512	hp.json	Decreased serum C3|Decreased serum complement C3 level	http://purl.obolibrary.org/obo/HP_0005421							
HP:0005422	biolink:PhenotypicFeature	Absence of CD8-positive T cells	Lack of detectible CD8-positive T cells	UMLS:C4025197	hp.json	Absence of CD8+ T cells	http://purl.obolibrary.org/obo/HP_0005422							
HP:0005423	biolink:PhenotypicFeature	Dysfunctional alternative complement pathway	An abnormality of the functioning of any aspect of the alternative complement pathway.	UMLS:C1839458	hp.json		http://purl.obolibrary.org/obo/HP_0005423							
HP:0005424	biolink:PhenotypicFeature	Absent specific antibody response	Absence of specific immunoglobulins directed against a specific antigen or microorganism.	UMLS:C1863246	hp.json		http://purl.obolibrary.org/obo/HP_0005424							
HP:0005425	biolink:PhenotypicFeature	Recurrent sinopulmonary infections	An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.	UMLS:C1846546	hp.json	Recurrent sinus and lung infections|Chronic sinopulmonary infection	http://purl.obolibrary.org/obo/HP_0005425							
HP:0005428	biolink:PhenotypicFeature	Severe recurrent varicella		MSH:C563458|UMLS:C1833487	hp.json		http://purl.obolibrary.org/obo/HP_0005428							
HP:0005429	biolink:PhenotypicFeature	Recurrent systemic pyogenic infections	Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.	UMLS:C4025196	hp.json		http://purl.obolibrary.org/obo/HP_0005429							
HP:0005430	biolink:PhenotypicFeature	Recurrent Neisserial infections	Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).	UMLS:C3151083	hp.json	Episodes of neisserial infection|Recurrent neisseria infections	http://purl.obolibrary.org/obo/HP_0005430							
HP:0005432	biolink:PhenotypicFeature	Transient hypogammaglobulinemia of infancy	At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.	SNOMEDCT_US:88714009|UMLS:C0272238|UMLS:C4020822	hp.json	Newborn gammaglobulin deficiency	http://purl.obolibrary.org/obo/HP_0005432							
HP:0005435	biolink:PhenotypicFeature	Impaired T cell function	Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.	UMLS:C1860127	hp.json	Impaired T cell function|T-cell dysfunction	http://purl.obolibrary.org/obo/HP_0005435							
HP:0005437	biolink:PhenotypicFeature	Recurrent infections in infancy and early childhood	Recurrent infections at an early age with improvement in later childhood.	UMLS:C1844909	hp.json		http://purl.obolibrary.org/obo/HP_0005437							
HP:0005439	biolink:PhenotypicFeature	Maxillozygomatic hypoplasia	Hypoplasia of the maxillozygomatic complex.	UMLS:C1848908|UMLS:C4280488	hp.json	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							
HP:0005441	biolink:PhenotypicFeature	Sclerotic cranial sutures	An increased density in the cranial sutures following obliteration.	UMLS:C4025195	hp.json		http://purl.obolibrary.org/obo/HP_0005441							
HP:0005442	biolink:PhenotypicFeature	Widely patent coronal suture	The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.	UMLS:C1856778	hp.json		http://purl.obolibrary.org/obo/HP_0005442							
HP:0005445	biolink:PhenotypicFeature	Enlarged posterior fossa	Abnormal increased size of the posterior cranial fossa.	UMLS:C1855889	hp.json	Widened posterior fossa	http://purl.obolibrary.org/obo/HP_0005445							
HP:0005446	biolink:PhenotypicFeature	Obtuse angle of mandible	Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.	SNOMEDCT_US:709997007|UMLS:C4038738	hp.json	High mandibular plane angle|Steep mandibular plane angle	http://purl.obolibrary.org/obo/HP_0005446							
HP:0005449	biolink:PhenotypicFeature	Bridged sella turcica		MSH:C566689|UMLS:C1866959	hp.json		http://purl.obolibrary.org/obo/HP_0005449							
HP:0005450	biolink:PhenotypicFeature	Calvarial osteosclerosis	An increase in bone density affecting the calvaria (roof of the skull).	UMLS:C1855657	hp.json		http://purl.obolibrary.org/obo/HP_0005450							
HP:0005451	biolink:PhenotypicFeature	Decreased cranial base ossification		UMLS:C1835442	hp.json		http://purl.obolibrary.org/obo/HP_0005451							
HP:0005453	biolink:PhenotypicFeature	Absent/hypoplastic paranasal sinuses	Aplasia or hypoplasia of the paranasal sinuses.	UMLS:C1856639	hp.json		http://purl.obolibrary.org/obo/HP_0005453							hposlim_core
HP:0005456	biolink:PhenotypicFeature	Absent ethmoidal sinuses	Lack (aplasia) of the ethmoidal sinus.	UMLS:C4025194	hp.json	Agenesis of ethmoid sinuses|Failure of development of ethmoid sinuses|Missing ethmoid sinuses	http://purl.obolibrary.org/obo/HP_0005456							
HP:0005458	biolink:PhenotypicFeature	Premature closure of fontanelles	Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.	MSH:D003398|SNOMEDCT_US:1667003|SNOMEDCT_US:57219006|UMLS:C0010278|UMLS:C0277827|UMLS:C4072853	hp.json	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							
HP:0005461	biolink:PhenotypicFeature	Craniofacial disproportion		UMLS:C1867114	hp.json		http://purl.obolibrary.org/obo/HP_0005461							
HP:0005462	biolink:PhenotypicFeature	Calcification of falx cerebri	The presence of calcium deposition in the falx cerebri.	UMLS:C1397139	hp.json		http://purl.obolibrary.org/obo/HP_0005462							
HP:0005463	biolink:PhenotypicFeature	Elongated sella turcica		UMLS:C1863311	hp.json		http://purl.obolibrary.org/obo/HP_0005463							
HP:0005464	biolink:PhenotypicFeature	Craniofacial osteosclerosis	Abnormally increased density of craniofacial bone tissue.	UMLS:C1845805|UMLS:C4025193	hp.json	Cranial sclerosis	http://purl.obolibrary.org/obo/HP_0005464							
HP:0005465	biolink:PhenotypicFeature	Facial hyperostosis	Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.	UMLS:C1857501|UMLS:C4280485|UMLS:C4280486|UMLS:C4280487	hp.json	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							hposlim_core
HP:0005466	biolink:PhenotypicFeature	Hypoplasia of the frontal bone	Underdevelopment of the frontal bone.	UMLS:C1845147|UMLS:C4280483|UMLS:C4280484	hp.json	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							
HP:0005469	biolink:PhenotypicFeature	Flat occiput	Reduced convexity of the occiput (posterior part of skull).	UMLS:C1837402|UMLS:C4280482	hp.json	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							hposlim_core
HP:0005472	biolink:PhenotypicFeature	Orbital craniosynostosis		UMLS:C4025192	hp.json		http://purl.obolibrary.org/obo/HP_0005472							
HP:0005473	biolink:PhenotypicFeature	Fusion of middle ear ossicles	Bony fusion of malleus, incus, and stapes.	UMLS:C1862068	hp.json		http://purl.obolibrary.org/obo/HP_0005473							
HP:0005474	biolink:PhenotypicFeature	Decreased calvarial ossification	Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).	UMLS:C1833762	hp.json	Soft skullcap|Poorly ossified calvaria|Poorly ossified calvarium|Soft calvaria|Undermineralized calvarium|Skull soft on palpation	http://purl.obolibrary.org/obo/HP_0005474							
HP:0005476	biolink:PhenotypicFeature	Widely patent sagittal suture	The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.	UMLS:C1856779	hp.json		http://purl.obolibrary.org/obo/HP_0005476							
HP:0005477	biolink:PhenotypicFeature	Progressive sclerosis of skull base	Progressively increasing bone density of the skull base without significant changes in bony contour.	UMLS:C1835470	hp.json		http://purl.obolibrary.org/obo/HP_0005477							
HP:0005478	biolink:PhenotypicFeature	Prominent frontal sinuses		UMLS:C1969404|UMLS:C4280265|UMLS:C4280479|UMLS:C4280480|UMLS:C4280481	hp.json	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	biolink:PhenotypicFeature	Decreased circulating IgE	An abnormally decreased level of immunoglobulin E (IgE) in blood.	UMLS:C0860904	hp.json	Decreased IgE|IgE deficiency	http://purl.obolibrary.org/obo/HP_0005479							
HP:0005482	biolink:PhenotypicFeature	Abnormality of the alternative complement pathway	A deviation in any aspect of the alternative complement pathway.	UMLS:C4025191	hp.json		http://purl.obolibrary.org/obo/HP_0005482							
HP:0005483	biolink:PhenotypicFeature	Abnormal epiglottis morphology	An abnormality of the epiglottis.	UMLS:C4025190	hp.json	Abnormality of the epiglottis	http://purl.obolibrary.org/obo/HP_0005483							
HP:0005484	biolink:PhenotypicFeature	Secondary microcephaly	Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.	UMLS:C1847514	hp.json	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|Postnatal microcephaly	http://purl.obolibrary.org/obo/HP_0005484							
HP:0005486	biolink:PhenotypicFeature	Small fontanelle	A fontanelle that is small for age.	SNOMEDCT_US:276710001|UMLS:C0456133|UMLS:C4072854|UMLS:C4072855	hp.json	Little cranial sutures|Small cranial sutures|Small soft spot|Little fontanelle|Microfontanelle|Small bregma sutures	http://purl.obolibrary.org/obo/HP_0005486							hposlim_core
HP:0005487	biolink:PhenotypicFeature	Prominent metopic ridge	Vertical bony ridge positioned in the midline of the forehead.	UMLS:C1857949	hp.json	Prominent frontal ridge|Prominent metopic suture|Ridging of metopic suture|Prominent frontal suture|Ridging of frontal suture	http://purl.obolibrary.org/obo/HP_0005487							hposlim_core
HP:0005490	biolink:PhenotypicFeature	Postnatal macrocephaly	The postnatal development of an abnormally large skull (macrocephaly).	UMLS:C1854417	hp.json	Macrocephaly, postnatal	http://purl.obolibrary.org/obo/HP_0005490							
HP:0005494	biolink:PhenotypicFeature	Premature posterior fontanelle closure		UMLS:C1839126	hp.json		http://purl.obolibrary.org/obo/HP_0005494							
HP:0005495	biolink:PhenotypicFeature	Metopic suture patent to nasal root	The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.	UMLS:C4025189	hp.json		http://purl.obolibrary.org/obo/HP_0005495							
HP:0005498	biolink:PhenotypicFeature	Midline skin dimples over anterior/posterior fontanelles		UMLS:C1855690	hp.json		http://purl.obolibrary.org/obo/HP_0005498							
HP:0005502	biolink:PhenotypicFeature	Increased red cell osmotic fragility		UMLS:C1849478	hp.json	Increased erythrocyte osmotic fragility|Increased red cell fragility	http://purl.obolibrary.org/obo/HP_0005502							
HP:0005505	biolink:PhenotypicFeature	Refractory anemia		MSH:D000753|SNOMEDCT_US:128845005|UMLS:C0002893	hp.json	Refractory anaemia	http://purl.obolibrary.org/obo/HP_0005505							
HP:0005506	biolink:PhenotypicFeature	Chronic myelogenous leukemia	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.	DOID:8552|MSH:D015464|SNOMEDCT_US:63364005|SNOMEDCT_US:92818009|UMLS:C0023473	hp.json	Chronic myelocytic leukaemia|Chronic myelogenous leukaemia|Chronic myeloid leukaemia|Chronic myelocytic leukemia|Chronic myeloid leukemia	http://purl.obolibrary.org/obo/HP_0005506							
HP:0005507	biolink:PhenotypicFeature	Hemoglobin Barts	Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.	UMLS:C3539063	hp.json	Hb Barts|Haemoglobin Barts	http://purl.obolibrary.org/obo/HP_0005507							
HP:0005508	biolink:PhenotypicFeature	Monoclonal immunoglobulin M proteinemia	Presence of a monoclonal immunoglobulin M protein in the serum.	MSH:D008258|SNOMEDCT_US:190817009|SNOMEDCT_US:190818004|SNOMEDCT_US:35562000|UMLS:C0024419	hp.json	Waldenstrom macroglobulinemia	http://purl.obolibrary.org/obo/HP_0005508							
HP:0005510	biolink:PhenotypicFeature	Transient erythroblastopenia	A transient reduction in the number of erythroblasts in the circulation.	UMLS:C4082199	hp.json	Transient decrease in blood erythrocyte number	http://purl.obolibrary.org/obo/HP_0005510							
HP:0005511	biolink:PhenotypicFeature	Heinz body anemia	Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.	MSH:C563030|UMLS:C0700299	hp.json	Heinz body anaemia	http://purl.obolibrary.org/obo/HP_0005511							
HP:0005512	biolink:PhenotypicFeature	Impaired neutrophil killing of staphylococci	A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.	UMLS:C4025188	hp.json		http://purl.obolibrary.org/obo/HP_0005512							
HP:0005513	biolink:PhenotypicFeature	Increased megakaryocyte count	Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.	UMLS:C4025187	hp.json		http://purl.obolibrary.org/obo/HP_0005513							
HP:0005517	biolink:PhenotypicFeature	T-cell lymphoma/leukemia	A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.	UMLS:C4025186	hp.json		http://purl.obolibrary.org/obo/HP_0005517							
HP:0005518	biolink:PhenotypicFeature	Increased mean corpuscular volume	Larger than normal size of erythrocytes.	UMLS:C0855791	hp.json	Increased MCV|Erythrocyte macrocytosis	http://purl.obolibrary.org/obo/HP_0005518							
HP:0005520	biolink:PhenotypicFeature	Chronic disseminated intravascular coagulation	A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.	UMLS:C1862184	hp.json	Chronic consumption coagulopathy|Compensated disseminated intravascular coagulation	http://purl.obolibrary.org/obo/HP_0005520							
HP:0005521	biolink:PhenotypicFeature	Disseminated intravascular coagulation	Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.	MSH:D004211|SNOMEDCT_US:67406007|UMLS:C0012739	hp.json		http://purl.obolibrary.org/obo/HP_0005521							
HP:0005522	biolink:PhenotypicFeature	Pyridoxine-responsive sideroblastic anemia	A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.	SNOMEDCT_US:191260004|SNOMEDCT_US:25443007|UMLS:C0272027	hp.json	Pyridoxine-responsive sideroblastic anaemia	http://purl.obolibrary.org/obo/HP_0005522							
HP:0005523	biolink:PhenotypicFeature	Lymphoproliferative disorder		MSH:D008232|SNOMEDCT_US:277466009|SNOMEDCT_US:414629003|SNOMEDCT_US:77121009|SNOMEDCT_US:84631004|UMLS:C0024314	hp.json	Lymphoproliferative disorders	http://purl.obolibrary.org/obo/HP_0005523							
HP:0005524	biolink:PhenotypicFeature	Macrocytic hemolytic disease		UMLS:C4025185	hp.json		http://purl.obolibrary.org/obo/HP_0005524							
HP:0005525	biolink:PhenotypicFeature	Spontaneous hemolytic crises		UMLS:C4025184	hp.json		http://purl.obolibrary.org/obo/HP_0005525							
HP:0005526	biolink:PhenotypicFeature	Lymphoid leukemia	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.	MSH:D007945|SNOMEDCT_US:188725004|SNOMEDCT_US:32280000|UMLS:C0023448	hp.json	Lymphoid leukaemia	http://purl.obolibrary.org/obo/HP_0005526							
HP:0005527	biolink:PhenotypicFeature	Reduced kininogen activity	Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.	MSH:C537060|SNOMEDCT_US:27312002|UMLS:C0272340	hp.json	Fitzgerald factor deficiency|Kininogen deficiency|Williams factor deficiency|Williams-Fitzgerald-Flaujeac factor deficiency	http://purl.obolibrary.org/obo/HP_0005527							
HP:0005528	biolink:PhenotypicFeature	Bone marrow hypocellularity	A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.	UMLS:C1855710	hp.json	Bone marrow failure|Bone marrow hypoplasia|Hypoplastic bone marrow	http://purl.obolibrary.org/obo/HP_0005528							
HP:0005531	biolink:PhenotypicFeature	Biphenotypic acute leukemia	A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.	MSH:D015456|SNOMEDCT_US:128818009|SNOMEDCT_US:278453007|UMLS:C0023464	hp.json	Acute biphenotypic leukaemia|Biphenotypic acute leukaemia|Myeloid/lymphoid leukaemia|Myeloid/lymphoid leukemia	http://purl.obolibrary.org/obo/HP_0005531							
HP:0005532	biolink:PhenotypicFeature	Macrocytic dyserythropoietic anemia		UMLS:C4025183	hp.json	Macrocytic dyserythropoietic anaemia	http://purl.obolibrary.org/obo/HP_0005532							
HP:0005534	biolink:PhenotypicFeature	Transient myeloproliferative syndrome	A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.	MSH:C563551|SNOMEDCT_US:450934005|UMLS:C1834582	hp.json	TMD|Transient leukaemia of Down syndrome|Transient leukemia of Down syndrome|Transient myeloproliferative disorder	http://purl.obolibrary.org/obo/HP_0005534							
HP:0005535	biolink:PhenotypicFeature	Exercise-induced hemolysis	A form of hemolytic anemia that can be triggered by exertion.	UMLS:C4025182	hp.json		http://purl.obolibrary.org/obo/HP_0005535							
HP:0005537	biolink:PhenotypicFeature	Decreased mean platelet volume	Average platelet volume below the lower limit of the normal reference interval.	UMLS:C1096368|UMLS:C1833182	hp.json	Small platelet size|Small platelets|Small platelets size	http://purl.obolibrary.org/obo/HP_0005537							
HP:0005539	biolink:PhenotypicFeature	T cell chronic lymphocytic lymphoma/leukemia	A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.	UMLS:C4025181	hp.json		http://purl.obolibrary.org/obo/HP_0005539							
HP:0005540	biolink:PhenotypicFeature	Red blood cell keratocytosis	A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.	UMLS:C4021635	hp.json	RBC keratocytosis|Distorted red blood cells resembling keratocytes	http://purl.obolibrary.org/obo/HP_0005540							
HP:0005541	biolink:PhenotypicFeature	Congenital agranulocytosis	Congenital onset of a marked decrease in the number of granulocytes.	MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118	hp.json		http://purl.obolibrary.org/obo/HP_0005541							
HP:0005542	biolink:PhenotypicFeature	Prolonged whole-blood clotting time	An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.	UMLS:C0151563	hp.json	Prolonged clotting time	http://purl.obolibrary.org/obo/HP_0005542							
HP:0005543	biolink:PhenotypicFeature	Reduced protein C activity	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.	MSH:D020151|SNOMEDCT_US:76407009|UMLS:C0398625	hp.json	Protein C deficiency	http://purl.obolibrary.org/obo/HP_0005543							
HP:0005546	biolink:PhenotypicFeature	Increased red cell osmotic resistance		UMLS:C1858628	hp.json		http://purl.obolibrary.org/obo/HP_0005546							
HP:0005547	biolink:PhenotypicFeature	Myeloproliferative disorder	Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.	MSH:D009196|SNOMEDCT_US:414794006|SNOMEDCT_US:425333006|UMLS:C0027022	hp.json		http://purl.obolibrary.org/obo/HP_0005547							
HP:0005548	biolink:PhenotypicFeature	Megakaryocytopenia	A reduced count of megakaryocytes.	UMLS:C1858312	hp.json		http://purl.obolibrary.org/obo/HP_0005548							
HP:0005549	biolink:PhenotypicFeature	obsolete Congenital neutropenia			hp.json		http://purl.obolibrary.org/obo/HP_0005549							
HP:0005550	biolink:PhenotypicFeature	Chronic lymphatic leukemia	A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.	MSH:D015451|SNOMEDCT_US:277473004|SNOMEDCT_US:51092000|SNOMEDCT_US:92814006|UMLS:C0023434	hp.json	Chronic lymphatic leukaemia|Chronic lymphocytic leukaemia|Chronic lymphocytic leukemia	http://purl.obolibrary.org/obo/HP_0005550							
HP:0005556	biolink:PhenotypicFeature	Abnormality of the metopic suture	The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".	UMLS:C4025180	hp.json		http://purl.obolibrary.org/obo/HP_0005556							
HP:0005557	biolink:PhenotypicFeature	Abnormality of the zygomatic arch	An abnormality of the zygomatic arch, also known as the cheek bone.	UMLS:C4025179	hp.json	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							
HP:0005558	biolink:PhenotypicFeature	Chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	SNOMEDCT_US:128933000|SNOMEDCT_US:92812005|UMLS:C1279296|UMLS:C4280478	hp.json	Chronic blood cancer|Chronic leukaemia	http://purl.obolibrary.org/obo/HP_0005558							
HP:0005559	biolink:PhenotypicFeature	Abnormality of the kinin-kallikrein system		UMLS:C4025178	hp.json		http://purl.obolibrary.org/obo/HP_0005559							
HP:0005560	biolink:PhenotypicFeature	Imbalanced hemoglobin synthesis	Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.	UMLS:C4025177	hp.json	Imbalanced Hb synthesis|Imbalanced haemoglobin synthesis	http://purl.obolibrary.org/obo/HP_0005560							
HP:0005561	biolink:PhenotypicFeature	Abnormality of bone marrow cell morphology	An anomaly of the form or number of cells in the bone marrow.	MSH:D001855|SNOMEDCT_US:127035006|UMLS:C0005956|UMLS:C4021634	hp.json	Bone marrow disease|Anomaly of the bone marrow cells	http://purl.obolibrary.org/obo/HP_0005561							
HP:0005562	biolink:PhenotypicFeature	Multiple renal cysts	The presence of many cysts in the kidney.	SNOMEDCT_US:253883006|UMLS:C0431718	hp.json	Multiple kidney cysts	http://purl.obolibrary.org/obo/HP_0005562							
HP:0005563	biolink:PhenotypicFeature	Decreased numbers of nephrons	A reduction in the count of nephrons per kidney.	UMLS:C1841994|UMLS:C2673888	hp.json	Oligonephronia|Decreased numbers of glomeruli	http://purl.obolibrary.org/obo/HP_0005563							
HP:0005564	biolink:PhenotypicFeature	Absence of renal corticomedullary differentiation	A lack of differentiation between renal cortex and medulla on diagnostic imaging.	UMLS:C1849765	hp.json	Absent renal corticomedullary differentiation|Loss of corticomedullary differentiation	http://purl.obolibrary.org/obo/HP_0005564							
HP:0005565	biolink:PhenotypicFeature	Reduced renal corticomedullary differentiation	Reduced differentiation between renal cortex and medulla on diagnostic imaging.	UMLS:C3807131	hp.json	Loss of definition of corticomedullary differentiation	http://purl.obolibrary.org/obo/HP_0005565							
HP:0005567	biolink:PhenotypicFeature	Renal magnesium wasting	High urine magnesium in the presence of hypomagnesemia.	MSH:C537152|UMLS:C1835171	hp.json		http://purl.obolibrary.org/obo/HP_0005567							
HP:0005571	biolink:PhenotypicFeature	Increased renal tubular phosphate reabsorption		UMLS:C1968910	hp.json	Increased percent tubular reabsorption of phosphorus	http://purl.obolibrary.org/obo/HP_0005571							
HP:0005572	biolink:PhenotypicFeature	Decreased renal tubular phosphate excretion		UMLS:C1968899	hp.json		http://purl.obolibrary.org/obo/HP_0005572							
HP:0005574	biolink:PhenotypicFeature	Non-acidotic proximal tubulopathy	A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.	UMLS:C4025176	hp.json		http://purl.obolibrary.org/obo/HP_0005574							
HP:0005575	biolink:PhenotypicFeature	Hemolytic-uremic syndrome	A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.	MSH:D006463|SNOMEDCT_US:111407006|UMLS:C0019061	hp.json	Hemolytic uremic syndrome	http://purl.obolibrary.org/obo/HP_0005575							
HP:0005576	biolink:PhenotypicFeature	Tubulointerstitial fibrosis	A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.	UMLS:C1969372	hp.json	Tubulointerstitial renal fibrosis|Tubulointerstitial scarring	http://purl.obolibrary.org/obo/HP_0005576							
HP:0005579	biolink:PhenotypicFeature	Impaired reabsorption of chloride	Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.	UMLS:C1846349	hp.json	Impaired reabsorption of Cl|Impaired reabsorption of Cl-	http://purl.obolibrary.org/obo/HP_0005579							
HP:0005580	biolink:PhenotypicFeature	Duplication of renal pelvis	A duplication of the renal pelvis.	UMLS:C1839269	hp.json		http://purl.obolibrary.org/obo/HP_0005580							
HP:0005583	biolink:PhenotypicFeature	Tubular basement membrane disintegration	DIsruption and breaking up of the basement membrane of the tubules of the kidney.	UMLS:C1968618	hp.json	Disintegration of the tubular basement membrane	http://purl.obolibrary.org/obo/HP_0005583							
HP:0005584	biolink:PhenotypicFeature	Renal cell carcinoma	A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.	MSH:D002292|NCIT:C2916|SNOMEDCT_US:41607009|SNOMEDCT_US:702391001|UMLS:C0007134	hp.json	Cancer starting in small tubes in kidneys|Hypernephroma|Renal carcinoma	http://purl.obolibrary.org/obo/HP_0005584							
HP:0005585	biolink:PhenotypicFeature	Spotty hyperpigmentation		UMLS:C3806179	hp.json	Spotty increased pigmentation|Patchy hyperpigmentation	http://purl.obolibrary.org/obo/HP_0005585							
HP:0005586	biolink:PhenotypicFeature	Hyperpigmentation in sun-exposed areas		UMLS:C3805877	hp.json	Increased pigmentation in sun-exposed areas|Hyperpigmentation of exposed areas	http://purl.obolibrary.org/obo/HP_0005586							
HP:0005587	biolink:PhenotypicFeature	Profuse pigmented skin lesions		UMLS:C1834424	hp.json		http://purl.obolibrary.org/obo/HP_0005587							
HP:0005588	biolink:PhenotypicFeature	Patchy palmoplantar hyperkeratosis	A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.	UMLS:C4021633	hp.json	Palmoplantar keratoderma, patchy|Patchy palmoplantar keratoderma	http://purl.obolibrary.org/obo/HP_0005588							
HP:0005590	biolink:PhenotypicFeature	Spotty hypopigmentation		UMLS:C3806178	hp.json	Patchy hypopigmentation|Spotty decreased pigmentation|Patchy depigmentation	http://purl.obolibrary.org/obo/HP_0005590							
HP:0005592	biolink:PhenotypicFeature	Giant melanosomes in melanocytes	The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.	UMLS:C3806221	hp.json	Macromelanosomes	http://purl.obolibrary.org/obo/HP_0005592							
HP:0005593	biolink:PhenotypicFeature	Macular hypopigmented whorls, streaks, and patches		UMLS:C3806616	hp.json		http://purl.obolibrary.org/obo/HP_0005593							
HP:0005595	biolink:PhenotypicFeature	Generalized hyperkeratosis		UMLS:C1969913	hp.json	Generalised hyperkeratosis|Hyperkeratosis, generalised|Hyperkeratosis, generalized	http://purl.obolibrary.org/obo/HP_0005595							
HP:0005597	biolink:PhenotypicFeature	Congenital alopecia totalis	Loss of all scalp hair with congenital onset.	UMLS:C4025175	hp.json		http://purl.obolibrary.org/obo/HP_0005597							
HP:0005598	biolink:PhenotypicFeature	Facial telangiectasia in butterfly midface distribution	Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.	UMLS:C4021632	hp.json	Butterfly facial telangiectasia	http://purl.obolibrary.org/obo/HP_0005598							
HP:0005599	biolink:PhenotypicFeature	Hypopigmentation of hair		UMLS:C3278401	hp.json	Loss of hair color|Loss of hair colour|Hair hypopigmentation	http://purl.obolibrary.org/obo/HP_0005599							hposlim_core
HP:0005600	biolink:PhenotypicFeature	Congenital giant melanocytic nevus	The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.	MSH:C536819|SNOMEDCT_US:10291008|SNOMEDCT_US:254815002|UMLS:C1842036	hp.json	Giant pigmented mole|Giant pigmented hairy nevus|Giant pigmented nevus	http://purl.obolibrary.org/obo/HP_0005600							
HP:0005602	biolink:PhenotypicFeature	Progressive vitiligo		UMLS:C3806428	hp.json		http://purl.obolibrary.org/obo/HP_0005602							
HP:0005603	biolink:PhenotypicFeature	Numerous congenital melanocytic nevi		UMLS:C3806415	hp.json		http://purl.obolibrary.org/obo/HP_0005603							
HP:0005605	biolink:PhenotypicFeature	Large cafe-au-lait macules with irregular margins	Large hypermelanotic macules with jagged borders.	UMLS:C4025174	hp.json		http://purl.obolibrary.org/obo/HP_0005605							
HP:0005606	biolink:PhenotypicFeature	Hyperpigmented nevi and streak		UMLS:C3805692	hp.json		http://purl.obolibrary.org/obo/HP_0005606							
HP:0005607	biolink:PhenotypicFeature	Abnormal tracheobronchial morphology		Fyler:4232|UMLS:C4021631	hp.json	Tracheobronchial anomalies	http://purl.obolibrary.org/obo/HP_0005607							
HP:0005608	biolink:PhenotypicFeature	Bilobate gallbladder	The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.	UMLS:C1846422	hp.json	Bilobed gallbladder|Double gallbladder|Gallbladder duplication	http://purl.obolibrary.org/obo/HP_0005608							
HP:0005609	biolink:PhenotypicFeature	Gallbladder dysfunction		SNOMEDCT_US:51047007|UMLS:C0232769	hp.json	Gallbladder dysfunction	http://purl.obolibrary.org/obo/HP_0005609							
HP:0005612	biolink:PhenotypicFeature	Arthrogryposis-like hand anomaly		UMLS:C4025173	hp.json		http://purl.obolibrary.org/obo/HP_0005612							
HP:0005613	biolink:PhenotypicFeature	Aplasia/hypoplasia of the femur	Absence or underdevelopment of the femur.	UMLS:C1851310	hp.json	Absent/small thighbone|Absent/underdeveloped thighbone|Hypoplastic to absent femora|Hypoplastic/aplastic femora	http://purl.obolibrary.org/obo/HP_0005613							
HP:0005616	biolink:PhenotypicFeature	Accelerated skeletal maturation	An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.	SNOMEDCT_US:123982003|UMLS:C0545053	hp.json	Advanced bone age|Early bone maturation	http://purl.obolibrary.org/obo/HP_0005616							
HP:0005617	biolink:PhenotypicFeature	Bilateral camptodactyly		UMLS:C4021830	hp.json		http://purl.obolibrary.org/obo/HP_0005617							
HP:0005619	biolink:PhenotypicFeature	Thoracolumbar kyphosis	Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.	UMLS:C1855418	hp.json	Thoracolumbar gibbus|Thoracolumbar gibbus deformity	http://purl.obolibrary.org/obo/HP_0005619							
HP:0005620	biolink:PhenotypicFeature	Hypermobility of interphalangeal joints	The ability of the interphalangeal joints to move beyond their normal range of motion.	UMLS:C4025172	hp.json	Increased mobility of hinge joints	http://purl.obolibrary.org/obo/HP_0005620							
HP:0005621	biolink:PhenotypicFeature	Trapezoidal shaped vertebral bodies		UMLS:C4025171	hp.json		http://purl.obolibrary.org/obo/HP_0005621							
HP:0005622	biolink:PhenotypicFeature	Broad long bones	Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.	UMLS:C4021630	hp.json	Broad long bones|Wide long bones|Widened long bones	http://purl.obolibrary.org/obo/HP_0005622							
HP:0005623	biolink:PhenotypicFeature	Absent ossification of calvaria	Absent ossification of the calvaria (vault of the skull).	UMLS:C4021629	hp.json	Absent bone maturation of skullcap|Absent ossification of skull vault	http://purl.obolibrary.org/obo/HP_0005623							
HP:0005625	biolink:PhenotypicFeature	Osteoporosis of vertebrae	Osteoporosis affecting predominantly the vertebrae.	UMLS:C4025170	hp.json		http://purl.obolibrary.org/obo/HP_0005625							
HP:0005626	biolink:PhenotypicFeature	Posterior fusion of lumbosacral vertebrae	Bony fusion of the posterior part of the L5 vertebral body with the sacrum.	UMLS:C4025169	hp.json		http://purl.obolibrary.org/obo/HP_0005626							
HP:0005627	biolink:PhenotypicFeature	Type D brachydactyly	This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.	MSH:C562420|UMLS:C0220664	hp.json	Brachydactyly type D	http://purl.obolibrary.org/obo/HP_0005627							
HP:0005632	biolink:PhenotypicFeature	Absent forearm		UMLS:C1408532	hp.json	Absent forearm|Absent forearms	http://purl.obolibrary.org/obo/HP_0005632							
HP:0005638	biolink:PhenotypicFeature	Decreased anterioposterior diameter of lumbar vertebral bodies		UMLS:C4025168	hp.json		http://purl.obolibrary.org/obo/HP_0005638							
HP:0005639	biolink:PhenotypicFeature	Hyperextensible hand joints	The ability of the joints of the hand to move beyond their normal range of motion.	UMLS:C1856877	hp.json		http://purl.obolibrary.org/obo/HP_0005639							
HP:0005640	biolink:PhenotypicFeature	Abnormal vertebral segmentation and fusion		UMLS:C4025167	hp.json		http://purl.obolibrary.org/obo/HP_0005640							
HP:0005643	biolink:PhenotypicFeature	Short 3rd toe	Underdevelopment (hypoplasia) of the third toe.	UMLS:C4021628	hp.json	Short 3rd toe|Short third toe|Brachydactyly of third toes	http://purl.obolibrary.org/obo/HP_0005643							
HP:0005645	biolink:PhenotypicFeature	Intervertebral disk calcification	The presence of abnormal calcium deposition of the intervertebral disk.	SNOMEDCT_US:240211000|UMLS:C0410607	hp.json	Intervertebral disc calcification|Multiple intervertebral disc calcifications|Multiple intervertebral disk calcifications	http://purl.obolibrary.org/obo/HP_0005645							hposlim_core
HP:0005648	biolink:PhenotypicFeature	Bilateral ulnar hypoplasia	Underdevelopment of the ulna on both sides.	UMLS:C4025166	hp.json		http://purl.obolibrary.org/obo/HP_0005648							
HP:0005650	biolink:PhenotypicFeature	Cutaneous syndactyly between fingers 2 and 5	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.	UMLS:C4025165	hp.json		http://purl.obolibrary.org/obo/HP_0005650							
HP:0005652	biolink:PhenotypicFeature	Cortical sclerosis	Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.	UMLS:C4025164	hp.json		http://purl.obolibrary.org/obo/HP_0005652							
HP:0005653	biolink:PhenotypicFeature	Moderate generalized osteoporosis	Moderate osteoporosis.	UMLS:C4025163	hp.json	Moderate generalised osteoporosis	http://purl.obolibrary.org/obo/HP_0005653							
HP:0005655	biolink:PhenotypicFeature	Multiple digital exostoses	Multiple exostoses originating in the fingers and toes.	UMLS:C4025162	hp.json		http://purl.obolibrary.org/obo/HP_0005655							
HP:0005656	biolink:PhenotypicFeature	Positional foot deformity	A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.	UMLS:C4025161	hp.json		http://purl.obolibrary.org/obo/HP_0005656							
HP:0005659	biolink:PhenotypicFeature	Thoracic kyphoscoliosis		UMLS:C4015465	hp.json		http://purl.obolibrary.org/obo/HP_0005659							
HP:0005661	biolink:PhenotypicFeature	Salmonella osteomyelitis	Osteomyelitis caused by infection with the bacteria, salmonella.	SNOMEDCT_US:6803002|UMLS:C0152491	hp.json	Salmonella bone infection	http://purl.obolibrary.org/obo/HP_0005661							
HP:0005665	biolink:PhenotypicFeature	Massively thickened long bone cortices	Extreme thickening of the cortex of long bones.	UMLS:C4025160	hp.json		http://purl.obolibrary.org/obo/HP_0005665							
HP:0005667	biolink:PhenotypicFeature	Os odontoideum	Separation of the odontoid process from the body of the axis.	SNOMEDCT_US:445242006|UMLS:C2919848	hp.json		http://purl.obolibrary.org/obo/HP_0005667							
HP:0005671	biolink:PhenotypicFeature	Bilateral intracerebral calcifications	Deposition of calcium salts on both sides of the brain.	UMLS:C4025159	hp.json	Bilateral intracranial calcifications	http://purl.obolibrary.org/obo/HP_0005671							
HP:0005676	biolink:PhenotypicFeature	Rudimentary postaxial polydactyly of hands		UMLS:C4025158	hp.json		http://purl.obolibrary.org/obo/HP_0005676							
HP:0005678	biolink:PhenotypicFeature	Anterior atlanto-occipital dislocation		UMLS:C4025157	hp.json		http://purl.obolibrary.org/obo/HP_0005678							
HP:0005679	biolink:PhenotypicFeature	Dupuytren contracture	An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.	MSH:D004387|SNOMEDCT_US:203045001|SNOMEDCT_US:203047009|SNOMEDCT_US:274142002|SNOMEDCT_US:410813000|UMLS:C0013312	hp.json		http://purl.obolibrary.org/obo/HP_0005679							
HP:0005680	biolink:PhenotypicFeature	Tongue-like lumbar vertebral deformities	A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.	UMLS:C4025156	hp.json		http://purl.obolibrary.org/obo/HP_0005680							
HP:0005681	biolink:PhenotypicFeature	Juvenile rheumatoid arthritis		SNOMEDCT_US:410795001|UMLS:C3714757	hp.json	Juvenile RA|Juvenile idiopathic arthritis|Rheumatoid arthritis, juvenile	http://purl.obolibrary.org/obo/HP_0005681							
HP:0005682	biolink:PhenotypicFeature	Talocalcaneal synostosis		UMLS:C4025155|UMLS:C4255214	hp.json	Fusion of foot joint|Fusion of the subtalar joint	http://purl.obolibrary.org/obo/HP_0005682							
HP:0005684	biolink:PhenotypicFeature	Distal arthrogryposis	An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.	SNOMEDCT_US:24269006|UMLS:C0265213	hp.json		http://purl.obolibrary.org/obo/HP_0005684							
HP:0005686	biolink:PhenotypicFeature	Patchy osteosclerosis	Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C1855845	hp.json	Uneven increase in bone density|Patchy increase of bone mineral density	http://purl.obolibrary.org/obo/HP_0005686							
HP:0005687	biolink:PhenotypicFeature	Deformed humeral heads		UMLS:C4025154	hp.json	Deformed head of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0005687							
HP:0005688	biolink:PhenotypicFeature	Dysplastic distal thumb phalanges with a central hole		UMLS:C4025153	hp.json		http://purl.obolibrary.org/obo/HP_0005688							
HP:0005689	biolink:PhenotypicFeature	Dermatoglyphic ridges abnormal		UMLS:C4025152	hp.json		http://purl.obolibrary.org/obo/HP_0005689							
HP:0005692	biolink:PhenotypicFeature	Joint hyperflexibility	Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.	UMLS:C3553764	hp.json	Joints move beyond expected range of motion	http://purl.obolibrary.org/obo/HP_0005692							
HP:0005694	biolink:PhenotypicFeature	Partial fusion of proximal row of carpal bones		UMLS:C3152021	hp.json	Partial fusion of innermost row of wrist bones	http://purl.obolibrary.org/obo/HP_0005694							
HP:0005696	biolink:PhenotypicFeature	Postaxial polydactyly type A	Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.	MSH:C562429|SNOMEDCT_US:715704001|UMLS:C3887487	hp.json		http://purl.obolibrary.org/obo/HP_0005696							
HP:0005700	biolink:PhenotypicFeature	Increased bone density with cystic changes		UMLS:C4025151	hp.json		http://purl.obolibrary.org/obo/HP_0005700							
HP:0005701	biolink:PhenotypicFeature	Multiple enchondromatosis		MSH:D004687|SNOMEDCT_US:268274005|UMLS:C0014084	hp.json		http://purl.obolibrary.org/obo/HP_0005701							
HP:0005707	biolink:PhenotypicFeature	Bilateral triphalangeal thumbs	A bilateral form of triphalangeal thumb.	UMLS:C4021627	hp.json	Bilateral digitalized thumb	http://purl.obolibrary.org/obo/HP_0005707							
HP:0005709	biolink:PhenotypicFeature	2-3 toe cutaneous syndactyly		SNOMEDCT_US:205145001|UMLS:C0432040	hp.json	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	biolink:PhenotypicFeature	Flattened knee epiphyses		UMLS:C4025150	hp.json	Flattened end part of knee bone	http://purl.obolibrary.org/obo/HP_0005715							
HP:0005716	biolink:PhenotypicFeature	Lethal skeletal dysplasia		UMLS:C4021626	hp.json	Lethal dwarfism identifiable at birth	http://purl.obolibrary.org/obo/HP_0005716							
HP:0005720	biolink:PhenotypicFeature	Shortening of all metacarpals	Abnormal reduction in length of all metacarpal bones.	UMLS:C4025149	hp.json		http://purl.obolibrary.org/obo/HP_0005720							
HP:0005722	biolink:PhenotypicFeature	Hyperextensible thumb	The ability of the thumb joints to move beyond their normal range of motion.	UMLS:C4025148	hp.json	Double jointed thumb	http://purl.obolibrary.org/obo/HP_0005722							
HP:0005723	biolink:PhenotypicFeature	Shoe-shaped sella turcica		UMLS:C4025147	hp.json		http://purl.obolibrary.org/obo/HP_0005723							
HP:0005725	biolink:PhenotypicFeature	Nonopposable triphalangeal thumb	A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.	MSH:C536562|UMLS:C2931238	hp.json		http://purl.obolibrary.org/obo/HP_0005725							
HP:0005726	biolink:PhenotypicFeature	Thumbs hypoplastic with bulbous tips		UMLS:C4025146	hp.json	Short thumbs with bulbous tips	http://purl.obolibrary.org/obo/HP_0005726							
HP:0005731	biolink:PhenotypicFeature	Cortical irregularity	An abnormal irregularity of cortical bone.	UMLS:C4025145	hp.json		http://purl.obolibrary.org/obo/HP_0005731							
HP:0005733	biolink:PhenotypicFeature	Spinal stenosis with reduced interpedicular distance	An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).	UMLS:C4021625	hp.json	Spinal stenosis due to short pedicles	http://purl.obolibrary.org/obo/HP_0005733							
HP:0005736	biolink:PhenotypicFeature	Short tibia	Underdevelopment (reduced size) of the tibia.	UMLS:C1850259|UMLS:C1855277	hp.json	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							
HP:0005739	biolink:PhenotypicFeature	Posterior subluxation of radial head	Partial dislocation of the head of the radius in the posterior direction.	UMLS:C3149878	hp.json		http://purl.obolibrary.org/obo/HP_0005739							
HP:0005743	biolink:PhenotypicFeature	Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.	ICD-10:M91.1|MSH:D007873|SNOMEDCT_US:111255008|SNOMEDCT_US:240241003|UMLS:C0023234	hp.json	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							
HP:0005744	biolink:PhenotypicFeature	obsolete Generalized osteoporosis with pathologic fractures			hp.json		http://purl.obolibrary.org/obo/HP_0005744							
HP:0005745	biolink:PhenotypicFeature	Congenital foot contractures		UMLS:C4025144	hp.json		http://purl.obolibrary.org/obo/HP_0005745							
HP:0005746	biolink:PhenotypicFeature	Osteosclerosis of the base of the skull	An increase in bone density affecting the basicranium (base of the skull).	UMLS:C4021624	hp.json	Osteosclerosis of the skull base	http://purl.obolibrary.org/obo/HP_0005746							
HP:0005747	biolink:PhenotypicFeature	Easily subluxated first metacarpophalangeal joints		UMLS:C4025143	hp.json		http://purl.obolibrary.org/obo/HP_0005747							
HP:0005750	biolink:PhenotypicFeature	Contractures of the joints of the lower limbs		UMLS:C1859523	hp.json	Contractures, lower limbs	http://purl.obolibrary.org/obo/HP_0005750							
HP:0005752	biolink:PhenotypicFeature	Flattened moderately deformed vertebrae		UMLS:C4025142	hp.json		http://purl.obolibrary.org/obo/HP_0005752							
HP:0005756	biolink:PhenotypicFeature	Neonatal epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.	UMLS:C4021623	hp.json	Speckled calcifications in bone end parts in neonates|Epiphyseal stippling in neonates	http://purl.obolibrary.org/obo/HP_0005756							
HP:0005758	biolink:PhenotypicFeature	Basilar impression	Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.	MSH:D010985|SNOMEDCT_US:86587003|UMLS:C0032209	hp.json		http://purl.obolibrary.org/obo/HP_0005758							
HP:0005759	biolink:PhenotypicFeature	Small flat posterior fossa	An abnormally small and flat configuration of the posterior cranial fossa.	UMLS:C4025141	hp.json	Small and flat posterior fossa of skull|Small and flat posterior skull bones	http://purl.obolibrary.org/obo/HP_0005759							
HP:0005764	biolink:PhenotypicFeature	Polyarticular arthritis		MSH:D001168|SNOMEDCT_US:416956002|SNOMEDCT_US:417373000|UMLS:C0162323	hp.json		http://purl.obolibrary.org/obo/HP_0005764							
HP:0005765	biolink:PhenotypicFeature	Sacral meningocele		SNOMEDCT_US:95478002|UMLS:C0521556	hp.json		http://purl.obolibrary.org/obo/HP_0005765							
HP:0005766	biolink:PhenotypicFeature	Disproportionate shortening of the tibia		UMLS:C3806516	hp.json	Disproportionate shortening of the shankbone|Disproportionate shortening of the shinbone|Marked shortening of tibia	http://purl.obolibrary.org/obo/HP_0005766							
HP:0005767	biolink:PhenotypicFeature	1-2 toe complete cutaneous syndactyly		UMLS:C4025140	hp.json		http://purl.obolibrary.org/obo/HP_0005767							
HP:0005768	biolink:PhenotypicFeature	2-4 toe cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.	UMLS:C4021622	hp.json	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							
HP:0005769	biolink:PhenotypicFeature	Fifth finger distal phalanx clinodactyly	Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).	UMLS:C4025139|UMLS:C4280477	hp.json	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							
HP:0005772	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the tibia	Absence or underdevelopment of the tibia.	UMLS:C1969181	hp.json	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							
HP:0005773	biolink:PhenotypicFeature	Short forearm	Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.	UMLS:C1855299	hp.json	Short forearm	http://purl.obolibrary.org/obo/HP_0005773							
HP:0005775	biolink:PhenotypicFeature	Multiple skeletal anomalies		UMLS:C4025138	hp.json		http://purl.obolibrary.org/obo/HP_0005775							
HP:0005776	biolink:PhenotypicFeature	Carpal bone malsegmentation		UMLS:C4025137	hp.json		http://purl.obolibrary.org/obo/HP_0005776							
HP:0005780	biolink:PhenotypicFeature	Absent fourth finger distal interphalangeal crease	Absence of the distal interphalangeal flexion creases of the fourth finger.	UMLS:C4021621	hp.json	No fourth finger distal interphalangeal crease	http://purl.obolibrary.org/obo/HP_0005780							
HP:0005781	biolink:PhenotypicFeature	Contractures of the large joints		UMLS:C1859698	hp.json		http://purl.obolibrary.org/obo/HP_0005781							
HP:0005787	biolink:PhenotypicFeature	Lumbar platyspondyly	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.	UMLS:C4025136	hp.json		http://purl.obolibrary.org/obo/HP_0005787							
HP:0005788	biolink:PhenotypicFeature	Abnormal cervical myelogram		UMLS:C4025135	hp.json		http://purl.obolibrary.org/obo/HP_0005788							
HP:0005789	biolink:PhenotypicFeature	Generalized osteosclerosis	An abnormal increase of bone mineral density with generalized involvement of the skeleton.	UMLS:C1843331|UMLS:C4280476	hp.json	Increased bone density in skeletal bones|Generalised osteosclerosis|Diffuse, symmetrical osteosclerosis|Osteosclerosis, diffuse symmetrical	http://purl.obolibrary.org/obo/HP_0005789							
HP:0005790	biolink:PhenotypicFeature	Short mandibular condyles		UMLS:C4025134|UMLS:C4280474|UMLS:C4280475	hp.json	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	biolink:PhenotypicFeature	Cortical thickening of long bone diaphyses	Abnormal thickening of the cortex of the diaphyseal region of long bones.	UMLS:C4025133	hp.json		http://purl.obolibrary.org/obo/HP_0005791							
HP:0005792	biolink:PhenotypicFeature	Short humerus	Underdevelopment of the humerus.	UMLS:C1832117	hp.json	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							hposlim_core
HP:0005793	biolink:PhenotypicFeature	Shortening of all distal phalanges of the toes	Abnormally short distal phalanx of toe of all toes.	UMLS:C4025132	hp.json	Shortening of all outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0005793							
HP:0005794	biolink:PhenotypicFeature	obsolete Arterial disease of legs			hp.json		http://purl.obolibrary.org/obo/HP_0005794							
HP:0005798	biolink:PhenotypicFeature	Posterior radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.	MSH:C566728|UMLS:C1867398	hp.json		http://purl.obolibrary.org/obo/HP_0005798							
HP:0005802	biolink:PhenotypicFeature	Coalescence of tarsal bones		UMLS:C4025130	hp.json		http://purl.obolibrary.org/obo/HP_0005802							
HP:0005807	biolink:PhenotypicFeature	Absent distal phalanges	Aplasia (absence) of the distal phalanges.	UMLS:C1861339	hp.json	Absent outermost digital bones	http://purl.obolibrary.org/obo/HP_0005807							
HP:0005815	biolink:PhenotypicFeature	Supernumerary ribs	The presence of more than 12 rib pairs.	SNOMEDCT_US:205460009|UMLS:C0345397	hp.json	Extra ribs	http://purl.obolibrary.org/obo/HP_0005815							hposlim_core
HP:0005817	biolink:PhenotypicFeature	Postaxial polysyndactyly of foot	Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).	UMLS:C4021824	hp.json		http://purl.obolibrary.org/obo/HP_0005817							
HP:0005819	biolink:PhenotypicFeature	Short middle phalanx of finger	Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.	UMLS:C1846950	hp.json	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							
HP:0005820	biolink:PhenotypicFeature	Superior rib anomalies		UMLS:C4025129	hp.json		http://purl.obolibrary.org/obo/HP_0005820							
HP:0005824	biolink:PhenotypicFeature	Clinodactyly of the 2nd toe	Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).	UMLS:C4021620|UMLS:C4280473	hp.json	Curvature of 2nd toe|Clinodactyly of second toes	http://purl.obolibrary.org/obo/HP_0005824							
HP:0005825	biolink:PhenotypicFeature	Mixed sclerosis of humeral metaphyses		UMLS:C4025128	hp.json		http://purl.obolibrary.org/obo/HP_0005825							
HP:0005828	biolink:PhenotypicFeature	Transient pulmonary infiltrates		UMLS:C3805920	hp.json		http://purl.obolibrary.org/obo/HP_0005828							
HP:0005829	biolink:PhenotypicFeature	Maldevelopment of radioulnar joint		UMLS:C3149879	hp.json		http://purl.obolibrary.org/obo/HP_0005829							
HP:0005830	biolink:PhenotypicFeature	Flexion contracture of toe	One or more bent (flexed) toe joints that cannot be straightened actively or passively.	UMLS:C1406835	hp.json	Contractures involving the toes|Contractures of the toes|Toe contractures	http://purl.obolibrary.org/obo/HP_0005830							
HP:0005831	biolink:PhenotypicFeature	Type B brachydactyly		MSH:C566196|UMLS:C1862112	hp.json		http://purl.obolibrary.org/obo/HP_0005831							
HP:0005832	biolink:PhenotypicFeature	Dysharmonic delayed bone age	A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.	UMLS:C1859444	hp.json		http://purl.obolibrary.org/obo/HP_0005832							
HP:0005833	biolink:PhenotypicFeature	obsolete Joint swelling onset late infancy			hp.json		http://purl.obolibrary.org/obo/HP_0005833							
HP:0005834	biolink:PhenotypicFeature	obsolete Thumbs hypo/aplastic			hp.json		http://purl.obolibrary.org/obo/HP_0005834							
HP:0005837	biolink:PhenotypicFeature	obsolete Joint dislocations in young adult			hp.json		http://purl.obolibrary.org/obo/HP_0005837							
HP:0005841	biolink:PhenotypicFeature	Calcific stippling of infantile cartilaginous skeleton		UMLS:C1859135	hp.json		http://purl.obolibrary.org/obo/HP_0005841							
HP:0005844	biolink:PhenotypicFeature	Rounded middle phalanx of finger	An abnormally round shape of the middle phalanx of the finger.	UMLS:C4025126	hp.json	Rounded middle bone of finger	http://purl.obolibrary.org/obo/HP_0005844							
HP:0005848	biolink:PhenotypicFeature	obsolete Bifid thumb distal phalanx			hp.json		http://purl.obolibrary.org/obo/HP_0005848							
HP:0005849	biolink:PhenotypicFeature	Diffuse cerebral calcification	Generalized deposition of calcium salts within the brain.	UMLS:C4025125	hp.json		http://purl.obolibrary.org/obo/HP_0005849							
HP:0005850	biolink:PhenotypicFeature	Congenital talipes calcaneovalgus		MSH:D005413|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003|UMLS:C0152237	hp.json		http://purl.obolibrary.org/obo/HP_0005850							
HP:0005852	biolink:PhenotypicFeature	Limited elbow extension and supination		UMLS:C4025124	hp.json		http://purl.obolibrary.org/obo/HP_0005852							
HP:0005853	biolink:PhenotypicFeature	Congenital foot contraction deformities		UMLS:C4025123	hp.json		http://purl.obolibrary.org/obo/HP_0005853							
HP:0005855	biolink:PhenotypicFeature	Multiple prenatal fractures	The presence of bone fractures in the prenatal period that are diagnosed at birth or before.	UMLS:C1853171	hp.json	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							
HP:0005856	biolink:PhenotypicFeature	Ulnar radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.	UMLS:C4021619	hp.json	Ulnar dislocation of radial heads	http://purl.obolibrary.org/obo/HP_0005856							
HP:0005857	biolink:PhenotypicFeature	Cervical spina bifida		SNOMEDCT_US:32232003|UMLS:C0266501	hp.json		http://purl.obolibrary.org/obo/HP_0005857							
HP:0005863	biolink:PhenotypicFeature	Type E brachydactyly	In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.	MSH:C566194|UMLS:C1862102	hp.json		http://purl.obolibrary.org/obo/HP_0005863							
HP:0005864	biolink:PhenotypicFeature	Pseudoarthrosis	A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").	MSH:D011542|SNOMEDCT_US:31511007|SNOMEDCT_US:410818009|UMLS:C0033785	hp.json	Pseudoarthroses	http://purl.obolibrary.org/obo/HP_0005864							
HP:0005866	biolink:PhenotypicFeature	Opposable triphalangeal thumb	A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.	UMLS:C4025122	hp.json		http://purl.obolibrary.org/obo/HP_0005866							
HP:0005867	biolink:PhenotypicFeature	Fused fourth and fifth metacarpals		UMLS:C1859768	hp.json	Fused 4th-5th long bones of hand|Fused 4th-5th metacarpals	http://purl.obolibrary.org/obo/HP_0005867							
HP:0005868	biolink:PhenotypicFeature	Metaphyseal enchondromatosis	An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.	UMLS:C4025121	hp.json		http://purl.obolibrary.org/obo/HP_0005868							
HP:0005871	biolink:PhenotypicFeature	Metaphyseal chondrodysplasia	An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.	SNOMEDCT_US:28681006|UMLS:C0265290	hp.json		http://purl.obolibrary.org/obo/HP_0005871							
HP:0005872	biolink:PhenotypicFeature	Brachytelomesophalangy	Disproportionately short middle and distal phalanges compared to the hand/foot.	UMLS:C1847408	hp.json	Progressive brachydactyly of middle and distal phalanges|Short middle and distal phalanges of digits ii through v	http://purl.obolibrary.org/obo/HP_0005872							
HP:0005873	biolink:PhenotypicFeature	Polysyndactyly of hallux	Combined syndactyly and polydactyly of the great toe.	UMLS:C4021618	hp.json	Polysyndactyly of big toe|Polysyndactyly of great toe	http://purl.obolibrary.org/obo/HP_0005873							
HP:0005875	biolink:PhenotypicFeature	Increased dermatoglyphic whorls		UMLS:C4025120	hp.json		http://purl.obolibrary.org/obo/HP_0005875							
HP:0005876	biolink:PhenotypicFeature	Progressive flexion contractures	Progressively worsening joint contractures.	UMLS:C3279322	hp.json	Joint contractures, progressive	http://purl.obolibrary.org/obo/HP_0005876							
HP:0005877	biolink:PhenotypicFeature	Multiple small vertebral fractures		UMLS:C4025119	hp.json		http://purl.obolibrary.org/obo/HP_0005877							
HP:0005878	biolink:PhenotypicFeature	Enlarged sagittal diameter of the cervical canal		UMLS:C4025118	hp.json		http://purl.obolibrary.org/obo/HP_0005878							
HP:0005879	biolink:PhenotypicFeature	Congenital finger flexion contractures	Multiple bent (flexed) finger joints that cannot be straightened actively or passively.	UMLS:C1393871	hp.json	Congenital finger contractures	http://purl.obolibrary.org/obo/HP_0005879							
HP:0005880	biolink:PhenotypicFeature	Metacarpophalangeal synostosis	Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.	UMLS:C4025117	hp.json	Fused long bone of hand with innermost finger bone	http://purl.obolibrary.org/obo/HP_0005880							
HP:0005881	biolink:PhenotypicFeature	Spinal instability		SNOMEDCT_US:240220009|UMLS:C0410648	hp.json		http://purl.obolibrary.org/obo/HP_0005881							
HP:0005882	biolink:PhenotypicFeature	Dermatoglyphic variants		UMLS:C4025116	hp.json		http://purl.obolibrary.org/obo/HP_0005882							
HP:0005885	biolink:PhenotypicFeature	Absent ossification of cervical vertebral bodies	A lack of bone mineralization of one or more body of cervical vertebra.	UMLS:C4025115	hp.json		http://purl.obolibrary.org/obo/HP_0005885							
HP:0005886	biolink:PhenotypicFeature	Aphalangy of the hands	Absence of a digit or of one or more phalanges of a finger.	UMLS:C4025114	hp.json		http://purl.obolibrary.org/obo/HP_0005886							
HP:0005890	biolink:PhenotypicFeature	Hyperostosis cranialis interna	Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.	MSH:C564168|UMLS:C1840404|UMLS:C4280468|UMLS:C4280469|UMLS:C4280470|UMLS:C4280471|UMLS:C4280472	hp.json	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							
HP:0005891	biolink:PhenotypicFeature	Progressive forearm bowing	Progressive bending or abnormal curvature of the forearm skeleton.	UMLS:C3152020	hp.json	Progressive forearm curvature	http://purl.obolibrary.org/obo/HP_0005891							
HP:0005892	biolink:PhenotypicFeature	Proximal tibial and fibular fusion		UMLS:C4025113	hp.json	Fusion of innermost shinbone and calf bone	http://purl.obolibrary.org/obo/HP_0005892							
HP:0005894	biolink:PhenotypicFeature	Double first metacarpals	Duplication of the metacarpal I bones.	UMLS:C4025112	hp.json	Double 1st long bones of hand	http://purl.obolibrary.org/obo/HP_0005894							
HP:0005895	biolink:PhenotypicFeature	Radial deviation of thumb terminal phalanx		UMLS:C4025111	hp.json		http://purl.obolibrary.org/obo/HP_0005895							
HP:0005897	biolink:PhenotypicFeature	Severe generalized osteoporosis	Severe degree of osteoporosis.	UMLS:C1859443	hp.json	Severe generalised osteoporosis|Severe, generalised osteoporosis|Severe, generalized osteoporosis	http://purl.obolibrary.org/obo/HP_0005897							
HP:0005899	biolink:PhenotypicFeature	Metaphyseal dysostosis	Abnormal mineralization of the metaphyseal area of bones.	SNOMEDCT_US:28681006|UMLS:C0265290	hp.json		http://purl.obolibrary.org/obo/HP_0005899							
HP:0005900	biolink:PhenotypicFeature	Fifth metacarpal with ulnar notch	Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).	UMLS:C3276324	hp.json	Fifth metacarpal notched on ulnar side	http://purl.obolibrary.org/obo/HP_0005900							
HP:0005901	biolink:PhenotypicFeature	obsolete Chronic recurrent multifocal osteomyelitis			hp.json		http://purl.obolibrary.org/obo/HP_0005901							
HP:0005905	biolink:PhenotypicFeature	Abnormal cervical curvature	The presence of an abnormal curvature of the cervical vertebral column.	UMLS:C3151523	hp.json	Abnormal neck curve	http://purl.obolibrary.org/obo/HP_0005905							
HP:0005906	biolink:PhenotypicFeature	Delayed pneumatization of the mastoid process	An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.	UMLS:C4021617	hp.json	Mastoid processes poorly pneumatized	http://purl.obolibrary.org/obo/HP_0005906							hposlim_core
HP:0005910	biolink:PhenotypicFeature	Rhomboid or triangular shaped 5th finger middle phalanx	Rhomboid or triangular shaped 5th (little) finger middle phalanx.	UMLS:C4021616	hp.json	Rhomboid or triangular shaped fifth finger middle phalanx	http://purl.obolibrary.org/obo/HP_0005910							
HP:0005912	biolink:PhenotypicFeature	Biliary atresia	Atresia of the biliary tree.	MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008|UMLS:C0005411	hp.json	Biliary duct atresia	http://purl.obolibrary.org/obo/HP_0005912							
HP:0005913	biolink:PhenotypicFeature	Abnormality of metacarpal epiphyses		UMLS:C4025110	hp.json	Abnormality of end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0005913							
HP:0005914	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the metacarpal bones	Aplasia or Hypoplasia affecting the metacarpal bones.	UMLS:C1836192	hp.json	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							
HP:0005916	biolink:PhenotypicFeature	Abnormal metacarpal morphology	Irregularly shaped metacarpal bones of varying degree.	UMLS:C4021615	hp.json	Abnormal shape of long bones of hand|Abnormal shape of metacarpal bones	http://purl.obolibrary.org/obo/HP_0005916							
HP:0005917	biolink:PhenotypicFeature	Supernumerary metacarpal bones	The presence of more than the normal number of metacarpal bones.	SNOMEDCT_US:91846008|UMLS:C0545617	hp.json	Extra long bones of hand	http://purl.obolibrary.org/obo/HP_0005917							
HP:0005918	biolink:PhenotypicFeature	Abnormal finger phalanx morphology	Abnormalities affecting the phalanx of finger.	UMLS:C4021614	hp.json	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							
HP:0005920	biolink:PhenotypicFeature	Abnormal epiphysis morphology of the phalanges of the hand	Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).	UMLS:C4021613	hp.json		http://purl.obolibrary.org/obo/HP_0005920							
HP:0005921	biolink:PhenotypicFeature	obsolete Abnormal ossification of hand bones			hp.json		http://purl.obolibrary.org/obo/HP_0005921							
HP:0005922	biolink:PhenotypicFeature	Abnormal hand morphology	Any structural anomaly of the hand.	UMLS:C4025109	hp.json	Abnormal shape of hand	http://purl.obolibrary.org/obo/HP_0005922							
HP:0005923	biolink:PhenotypicFeature	Abnormalities of the metaphyses of the hand		UMLS:C4025108	hp.json	Abnormality of the wide portion of the hand bone	http://purl.obolibrary.org/obo/HP_0005923							
HP:0005924	biolink:PhenotypicFeature	Abnormality of the epiphyses of the hand	Any abnormality of the epiphyses of the phalanges or metacarpal bones.	UMLS:C4025107	hp.json	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							
HP:0005925	biolink:PhenotypicFeature	Abnormalities of the diaphyses of the hand		UMLS:C4025106	hp.json	Abnormalities of shaft of long bone of the hand	http://purl.obolibrary.org/obo/HP_0005925							
HP:0005926	biolink:PhenotypicFeature	Abnormality of hand cortical bone	An anomaly of the outer shell (cortex) of a hand bone.	UMLS:C4025105	hp.json	Abnormality of the cortex of hand bones	http://purl.obolibrary.org/obo/HP_0005926							
HP:0005927	biolink:PhenotypicFeature	Aplasia/hypoplasia involving bones of the hand	Absence (due to failure to form) or underdevelopment of the bones of the hand.	UMLS:C4021612	hp.json	Absent/small hand bones|Absent/underdeveloped hand bones|Hypoplasia/absence of hand bones	http://purl.obolibrary.org/obo/HP_0005927							
HP:0005928	biolink:PhenotypicFeature	Synostosis involving the fibula		UMLS:C4025104	hp.json	Bone fusion involving the calf bones	http://purl.obolibrary.org/obo/HP_0005928							
HP:0005929	biolink:PhenotypicFeature	Synostosis involving the tibia		UMLS:C4025103	hp.json	Bone fusion involving the shinbone	http://purl.obolibrary.org/obo/HP_0005929							
HP:0005930	biolink:PhenotypicFeature	Abnormality of epiphysis morphology	An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.	UMLS:C4021611	hp.json	Abnormal shape of end part of bone|Abnormality of the epiphyses|Anomaly of the epiphyses|Epiphyseal abnormality	http://purl.obolibrary.org/obo/HP_0005930							
HP:0005932	biolink:PhenotypicFeature	Abnormal renal corticomedullary differentiation	An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.	UMLS:C4025102	hp.json		http://purl.obolibrary.org/obo/HP_0005932							
HP:0005934	biolink:PhenotypicFeature	Imperfect vocal cord adduction		UMLS:C4025101	hp.json		http://purl.obolibrary.org/obo/HP_0005934							
HP:0005938	biolink:PhenotypicFeature	Abnormal respiratory motile cilium morphology	Abnormal arrangement of the structures of the motile cilium.	UMLS:C4025100	hp.json		http://purl.obolibrary.org/obo/HP_0005938							
HP:0005939	biolink:PhenotypicFeature	Multiple bilateral pneumothoraces		UMLS:C4025099	hp.json		http://purl.obolibrary.org/obo/HP_0005939							
HP:0005941	biolink:PhenotypicFeature	Intermittent hyperpnea at rest		UMLS:C4025098	hp.json		http://purl.obolibrary.org/obo/HP_0005941							
HP:0005942	biolink:PhenotypicFeature	Desquamative interstitial pneumonitis	Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.	MSH:C562470|SNOMEDCT_US:8549006|UMLS:C0238378	hp.json	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							
HP:0005943	biolink:PhenotypicFeature	Respiratory arrest		SNOMEDCT_US:87317003|UMLS:C0162297	hp.json	Breathing cessation	http://purl.obolibrary.org/obo/HP_0005943							
HP:0005944	biolink:PhenotypicFeature	Bilateral lung agenesis	Bilateral lack of development of the lungs.	Fyler:4206|UMLS:C4021610	hp.json	Absent lungs|Bilateral pulmonary agenesis	http://purl.obolibrary.org/obo/HP_0005944							
HP:0005945	biolink:PhenotypicFeature	Laryngeal obstruction	Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.	SNOMEDCT_US:61169001|UMLS:C0264306	hp.json		http://purl.obolibrary.org/obo/HP_0005945							
HP:0005946	biolink:PhenotypicFeature	Ventilator dependence with inability to wean		UMLS:C4025097	hp.json		http://purl.obolibrary.org/obo/HP_0005946							
HP:0005947	biolink:PhenotypicFeature	Decreased sensitivity to hypoxemia	Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.	UMLS:C3806286	hp.json	Decreased sensitivity to hypoxemia|Decreased sensitivity to hypoxaemia	http://purl.obolibrary.org/obo/HP_0005947							
HP:0005948	biolink:PhenotypicFeature	Multiple pulmonary cysts	The presence of multiple lung cysts.	MSH:C563237|UMLS:C1384901	hp.json	Cystic lung disease|Multiple lung cysts	http://purl.obolibrary.org/obo/HP_0005948							
HP:0005949	biolink:PhenotypicFeature	Apneic episodes in infancy	Recurrent episodes of apnea occurring during infancy.	UMLS:C3807980	hp.json		http://purl.obolibrary.org/obo/HP_0005949							
HP:0005950	biolink:PhenotypicFeature	Laryngeal web	A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	SNOMEDCT_US:297159008|UMLS:C0281890	hp.json	Laryngeal webs|Partial laryngeal atresia	http://purl.obolibrary.org/obo/HP_0005950							
HP:0005951	biolink:PhenotypicFeature	Progressive inspiratory stridor		UMLS:C4025096	hp.json		http://purl.obolibrary.org/obo/HP_0005951							
HP:0005952	biolink:PhenotypicFeature	Decreased pulmonary function		MSH:D012131|SNOMEDCT_US:80954004|UMLS:C0235063	hp.json	Decreased lung function|Impaired lung function|Impaired pulmonary function	http://purl.obolibrary.org/obo/HP_0005952							
HP:0005954	biolink:PhenotypicFeature	Pulmonary capillary hemangiomatosis		SNOMEDCT_US:233949008|UMLS:C0340548	hp.json	Pulmonary hemangiomas	http://purl.obolibrary.org/obo/HP_0005954							
HP:0005956	biolink:PhenotypicFeature	Anteroposteriorly shortened larynx	Abnormal shortening of the larynx in the anteroposterior (front to back) axis.	UMLS:C3805994	hp.json		http://purl.obolibrary.org/obo/HP_0005956							
HP:0005957	biolink:PhenotypicFeature	Breathing dysregulation		UMLS:C3808046	hp.json		http://purl.obolibrary.org/obo/HP_0005957							
HP:0005959	biolink:PhenotypicFeature	Impaired gluconeogenesis	An impairment of gluconeogenesis.	UMLS:C3279336	hp.json	Gluconeogenesis impaired	http://purl.obolibrary.org/obo/HP_0005959							
HP:0005961	biolink:PhenotypicFeature	Hypoargininemia	A decreased concentration of arginine in the blood.	UMLS:C1859735|UMLS:C4025095	hp.json	Low blood arginine levels|Arginine deficiency	http://purl.obolibrary.org/obo/HP_0005961							
HP:0005964	biolink:PhenotypicFeature	Intermittent hypothermia	Episodes of reduced body termperature.	UMLS:C1837639	hp.json	Intermittent abnormally low body temperature|Intermittent hypothermia	http://purl.obolibrary.org/obo/HP_0005964							
HP:0005967	biolink:PhenotypicFeature	Mixed respiratory and metabolic acidosis		UMLS:C1840372	hp.json		http://purl.obolibrary.org/obo/HP_0005967							
HP:0005968	biolink:PhenotypicFeature	Temperature instability	Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.	UMLS:C1820737|UMLS:C3279038	hp.json	Temperature instability|Body temperature instability	http://purl.obolibrary.org/obo/HP_0005968							
HP:0005972	biolink:PhenotypicFeature	Respiratory acidosis	Acidosis because of respiratory retention of carbon dioxide.	MSH:D000142|SNOMEDCT_US:12326000|UMLS:C0001127	hp.json		http://purl.obolibrary.org/obo/HP_0005972							
HP:0005973	biolink:PhenotypicFeature	Fructose intolerance	Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.	MSH:D005633|SNOMEDCT_US:20052008|UMLS:C0016751	hp.json	Fructose malabsorption	http://purl.obolibrary.org/obo/HP_0005973							
HP:0005974	biolink:PhenotypicFeature	Episodic ketoacidosis	Intermittent episodes of ketoacidosis.	UMLS:C1859860	hp.json	Ketoacidosis, episodic	http://purl.obolibrary.org/obo/HP_0005974							
HP:0005976	biolink:PhenotypicFeature	Hyperkalemic metabolic acidosis		UMLS:C1865880	hp.json		http://purl.obolibrary.org/obo/HP_0005976							
HP:0005977	biolink:PhenotypicFeature	Hypochloremic metabolic alkalosis		UMLS:C0740895	hp.json		http://purl.obolibrary.org/obo/HP_0005977							
HP:0005978	biolink:PhenotypicFeature	Type II diabetes mellitus	A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.	MSH:D003924|SNOMEDCT_US:44054006|UMLS:C0011860	hp.json	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							
HP:0005979	biolink:PhenotypicFeature	Metabolic ketoacidosis	A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.	MSH:D007662|UMLS:C1854704	hp.json	Starvation ketoacidosis	http://purl.obolibrary.org/obo/HP_0005979							
HP:0005982	biolink:PhenotypicFeature	Reduced phenylalanine hydroxylase level	A reduction in phenylalanine 4-monooxygenase level.	MSH:D010661|SNOMEDCT_US:7573000|UMLS:C0751434|UMLS:C4025094	hp.json	Phenylalanine hydroxylase deficiency	http://purl.obolibrary.org/obo/HP_0005982							
HP:0005984	biolink:PhenotypicFeature	Elevated maternal serum alpha-fetoprotein	An elevation of alpha-feto protein in the maternal serum.	UMLS:C0740927	hp.json		http://purl.obolibrary.org/obo/HP_0005984							
HP:0005986	biolink:PhenotypicFeature	Limitation of neck motion		MSH:D009127|SNOMEDCT_US:161882006|SNOMEDCT_US:405947006|UMLS:C0151315|UMLS:C1320474|UMLS:C1847392	hp.json	Limited neck mobility|Limitation of neck motion|Restricted neck movement	http://purl.obolibrary.org/obo/HP_0005986							
HP:0005987	biolink:PhenotypicFeature	Multinodular goiter	Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.	SNOMEDCT_US:237570007|UMLS:C0342208	hp.json	Multinodular goitre	http://purl.obolibrary.org/obo/HP_0005987							
HP:0005988	biolink:PhenotypicFeature	Congenital muscular torticollis	A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.	MSH:C535425|SNOMEDCT_US:268240006|UMLS:C0079352	hp.json	Torticollis, congenital	http://purl.obolibrary.org/obo/HP_0005988							
HP:0005989	biolink:PhenotypicFeature	Redundant neck skin	Excess skin around the neck, often lying in horizontal folds.	UMLS:C1840319	hp.json	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							
HP:0005990	biolink:PhenotypicFeature	Thyroid hypoplasia	Developmental hypoplasia of the thyroid gland.	MSH:D050033|SNOMEDCT_US:367524008|UMLS:C0151516	hp.json	Small thyroid gland|Hypoplastic thyroid	http://purl.obolibrary.org/obo/HP_0005990							
HP:0005991	biolink:PhenotypicFeature	Limited neck flexion	Reduced abilty to lower the chin towards the chest by bending the neck.	UMLS:C1864449	hp.json	Limited neck flexibility|Limited cervical flexion	http://purl.obolibrary.org/obo/HP_0005991							
HP:0005994	biolink:PhenotypicFeature	Nodular goiter	Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.	MSH:D006044|SNOMEDCT_US:419153005|UMLS:C0018023	hp.json	Nodular goitre	http://purl.obolibrary.org/obo/HP_0005994							
HP:0005995	biolink:PhenotypicFeature	Decreased adipose tissue around neck	Reduced amount of adipose tissue in the region of the neck.	UMLS:C1837763	hp.json	Loss of fat around neck|Loss of adipose tissue around the neck	http://purl.obolibrary.org/obo/HP_0005995							
HP:0005997	biolink:PhenotypicFeature	Restricted neck movement due to contractures		UMLS:C1867006	hp.json	Restricted neck mobility due to contractures|Restricted neck movement due to contractures|Neck flexion contracture	http://purl.obolibrary.org/obo/HP_0005997							
HP:0005999	biolink:PhenotypicFeature	Ureteral atresia	A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.	SNOMEDCT_US:204974003|SNOMEDCT_US:49534003|UMLS:C0266320	hp.json		http://purl.obolibrary.org/obo/HP_0005999							
HP:0006000	biolink:PhenotypicFeature	Ureteral obstruction	Obstruction of the flow of urine through the ureter.	Fyler:4492|MSH:D014517|SNOMEDCT_US:20018005|UMLS:C0041956	hp.json		http://purl.obolibrary.org/obo/HP_0006000							
HP:0006006	biolink:PhenotypicFeature	Hypotrophy of the small hand muscles		UMLS:C1843228	hp.json	Degeneration of small hand muscles	http://purl.obolibrary.org/obo/HP_0006006							
HP:0006008	biolink:PhenotypicFeature	Unilateral brachydactyly		UMLS:C1868164|UMLS:C4280467	hp.json	Short digits on one side	http://purl.obolibrary.org/obo/HP_0006008							
HP:0006009	biolink:PhenotypicFeature	Broad phalanx	Increased side-to-side width of one or more phalanges of the fingers or toes.	UMLS:C1855185	hp.json	Wide digital bones|Broad phalanges|Wide phalanges|Widened phalanges	http://purl.obolibrary.org/obo/HP_0006009							
HP:0006011	biolink:PhenotypicFeature	Cuboidal metacarpal	Severely shortened metacarpal with a cuboidal appearance.	UMLS:C4025093	hp.json	Short, cube shaped long bone of hand	http://purl.obolibrary.org/obo/HP_0006011							
HP:0006012	biolink:PhenotypicFeature	Widened metacarpal shaft		UMLS:C1850159	hp.json	Broad shaft of long bone of hand	http://purl.obolibrary.org/obo/HP_0006012							
HP:0006014	biolink:PhenotypicFeature	Abnormally shaped carpal bones		UMLS:C1860111	hp.json	Abnormally shaped wrist bones	http://purl.obolibrary.org/obo/HP_0006014							
HP:0006016	biolink:PhenotypicFeature	Delayed phalangeal epiphyseal ossification	Delay in the process of formation and maturation of the epiphysis of one or more phalanx.	UMLS:C4021609	hp.json	Delayed bone maturation of end part of digital bone|Delayed phalangeal epiphyseal bone maturation	http://purl.obolibrary.org/obo/HP_0006016							
HP:0006019	biolink:PhenotypicFeature	Reduced proximal interphalangeal joint space		UMLS:C1861396	hp.json	Decreased space in hinge joint	http://purl.obolibrary.org/obo/HP_0006019							
HP:0006026	biolink:PhenotypicFeature	Rounded epiphyses		UMLS:C1850632	hp.json	Rounded end part of bone	http://purl.obolibrary.org/obo/HP_0006026							
HP:0006028	biolink:PhenotypicFeature	Metaphyseal cupping of metacarpals	Metaphyseal cupping affecting the metacarpal bones.	UMLS:C1855171	hp.json	Cupping of wide portion of long bone of hand|Metacarpal/metaphyseal cupping	http://purl.obolibrary.org/obo/HP_0006028							
HP:0006035	biolink:PhenotypicFeature	Cone-shaped epiphyses of phalanges 2 to 5		UMLS:C1857005	hp.json	Cone-shaped end part of digital bones 2 to 5	http://purl.obolibrary.org/obo/HP_0006035							
HP:0006040	biolink:PhenotypicFeature	Long second metacarpal		UMLS:C1861531	hp.json	Long 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0006040							
HP:0006042	biolink:PhenotypicFeature	Y-shaped metacarpals	Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.	UMLS:C1861373	hp.json	Y-shaped long bone of hand	http://purl.obolibrary.org/obo/HP_0006042							
HP:0006045	biolink:PhenotypicFeature	Short pointed phalanges		UMLS:C1849740	hp.json	Short pointed digital bones	http://purl.obolibrary.org/obo/HP_0006045							
HP:0006048	biolink:PhenotypicFeature	Distal widening of metacarpals	Abnormal increase in width of the distal region of the metacarpal bones.	UMLS:C1865254	hp.json	Wide outermost end of long bone	http://purl.obolibrary.org/obo/HP_0006048							
HP:0006051	biolink:PhenotypicFeature	Metacarpal periosteal thickening		UMLS:C1834347	hp.json		http://purl.obolibrary.org/obo/HP_0006051							
HP:0006055	biolink:PhenotypicFeature	Ulnar deviated club hands		UMLS:C1833881	hp.json		http://purl.obolibrary.org/obo/HP_0006055							
HP:0006059	biolink:PhenotypicFeature	Cone-shaped metacarpal epiphyses	A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.	UMLS:C1855239	hp.json	Cone-shaped end part of long bone|Metacarpal cone-shaped epiphyses	http://purl.obolibrary.org/obo/HP_0006059							
HP:0006060	biolink:PhenotypicFeature	Tombstone-shaped proximal phalanges		UMLS:C1862420	hp.json	Tombstone-shaped innermost digital bones	http://purl.obolibrary.org/obo/HP_0006060							
HP:0006064	biolink:PhenotypicFeature	Limited interphalangeal movement		UMLS:C1840089	hp.json	Limited movement of hinge joints	http://purl.obolibrary.org/obo/HP_0006064							
HP:0006067	biolink:PhenotypicFeature	Multiple carpal ossification centers	A delay in the process of formation and maturation of the epiphysis of one or more long bones.	UMLS:C1835573	hp.json	Multiple carpal ossification centres	http://purl.obolibrary.org/obo/HP_0006067							
HP:0006069	biolink:PhenotypicFeature	Severe carpal ossification delay		UMLS:C1866703|UMLS:C4280466	hp.json	Severe delay in maturation of wrist bone	http://purl.obolibrary.org/obo/HP_0006069							
HP:0006070	biolink:PhenotypicFeature	Metacarpophalangeal joint contracture	A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	UMLS:C2677209	hp.json	Metacarpal/phalangeal joint contractures	http://purl.obolibrary.org/obo/HP_0006070							
HP:0006077	biolink:PhenotypicFeature	Absent proximal finger flexion creases	Absence of the proximal interphalangeal flexion creases of the fingers.	UMLS:C1850048	hp.json		http://purl.obolibrary.org/obo/HP_0006077							
HP:0006086	biolink:PhenotypicFeature	Thin metacarpal cortices		UMLS:C1850160	hp.json		http://purl.obolibrary.org/obo/HP_0006086							
HP:0006088	biolink:PhenotypicFeature	1-5 finger complete cutaneous syndactyly		UMLS:C1861357	hp.json		http://purl.obolibrary.org/obo/HP_0006088							
HP:0006089	biolink:PhenotypicFeature	Palmar hyperhidrosis		UMLS:C1856953	hp.json	Excessive sweating of hands	http://purl.obolibrary.org/obo/HP_0006089							
HP:0006092	biolink:PhenotypicFeature	Malaligned carpal bone	Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).	UMLS:C1856742	hp.json	Incorrect alignment of wrist bone	http://purl.obolibrary.org/obo/HP_0006092							
HP:0006094	biolink:PhenotypicFeature	Finger joint hypermobility		SNOMEDCT_US:298193009|UMLS:C0574974	hp.json	Increased mobility in finger joint	http://purl.obolibrary.org/obo/HP_0006094							
HP:0006095	biolink:PhenotypicFeature	Wide tufts of distal phalanges		UMLS:C1835101	hp.json	Wide tips of outermost digital bone	http://purl.obolibrary.org/obo/HP_0006095							
HP:0006097	biolink:PhenotypicFeature	3-4 finger syndactyly	Syndactyly with fusion of fingers three and four.	UMLS:C1856889	hp.json	Webbed 3rd-4th fingers|Partial or complete syndactyly 3rd-4th fingers|Webbed 3rd-4th finger	http://purl.obolibrary.org/obo/HP_0006097							
HP:0006099	biolink:PhenotypicFeature	Metacarpophalangeal joint hyperextensibility	Increased mobility of one ore more metacarpophalangeal joint.	UMLS:C4025092	hp.json		http://purl.obolibrary.org/obo/HP_0006099							
HP:0006101	biolink:PhenotypicFeature	Finger syndactyly	Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".	SNOMEDCT_US:249769001|SNOMEDCT_US:268251006|SNOMEDCT_US:34048007|UMLS:C0221352	hp.json	Partial syndactyly	http://purl.obolibrary.org/obo/HP_0006101							
HP:0006106	biolink:PhenotypicFeature	Absent trapezoid bone		UMLS:C1847191	hp.json		http://purl.obolibrary.org/obo/HP_0006106							
HP:0006107	biolink:PhenotypicFeature	Fingerpad telangiectases	Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.	UMLS:C1861248	hp.json	Small dilated blood vessels in fingerpads|Finger pad telangiectases	http://purl.obolibrary.org/obo/HP_0006107							
HP:0006108	biolink:PhenotypicFeature	Tapered metacarpals	Metacarpal that becomes thinner toward the distal end.	UMLS:C4025091	hp.json	Tapered long bones of hand	http://purl.obolibrary.org/obo/HP_0006108							
HP:0006109	biolink:PhenotypicFeature	Absent phalangeal crease	Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).	UMLS:C1862479|UMLS:C4020821	hp.json	Absent interphalangeal creases|Aplasia of the interphalangeal creases	http://purl.obolibrary.org/obo/HP_0006109							
HP:0006110	biolink:PhenotypicFeature	Shortening of all middle phalanges of the fingers	Short, hypoplastic middle phalanx of finger, affecting all fingers.	UMLS:C1856912	hp.json		http://purl.obolibrary.org/obo/HP_0006110							
HP:0006112	biolink:PhenotypicFeature	Expanded phalanges with widened medullary cavities		UMLS:C1969287	hp.json		http://purl.obolibrary.org/obo/HP_0006112							
HP:0006114	biolink:PhenotypicFeature	Multiple palmar creases	The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).	UMLS:C1861872	hp.json	Multiple palm lines	http://purl.obolibrary.org/obo/HP_0006114							
HP:0006118	biolink:PhenotypicFeature	Shortening of all distal phalanges of the fingers	Hypoplasia of all of the distal phalanx of finger.	UMLS:C4021608	hp.json	Shortening of all outermost bones of the fingers|Brachytelephalangy	http://purl.obolibrary.org/obo/HP_0006118							
HP:0006119	biolink:PhenotypicFeature	Proximal tapering of metacarpals	Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.	UMLS:C1854749	hp.json	Pointed innermost long bone of hand|Pointed proximal metacarpals	http://purl.obolibrary.org/obo/HP_0006119							hposlim_core
HP:0006121	biolink:PhenotypicFeature	Acral ulceration	A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.	UMLS:C1860099	hp.json		http://purl.obolibrary.org/obo/HP_0006121							
HP:0006127	biolink:PhenotypicFeature	Long proximal phalanx of finger	Increased length of the proximal phalanx of finger.	UMLS:C4025090	hp.json	Long innermost finger bone	http://purl.obolibrary.org/obo/HP_0006127							
HP:0006129	biolink:PhenotypicFeature	Drumstick terminal phalanges	Rounding and broadening of the tufts of the distal phalanges.	UMLS:C1844822	hp.json	Drumstick shaped digital bones	http://purl.obolibrary.org/obo/HP_0006129							
HP:0006134	biolink:PhenotypicFeature	Enlarged metacarpal epiphyses	Abnormally large size of the metaphyseal epiphyses.	UMLS:C1865035	hp.json	Enlarged end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0006134							
HP:0006135	biolink:PhenotypicFeature	Decreased finger mobility		UMLS:C1862133	hp.json	Decreased finger mobility|Decreased finger movement	http://purl.obolibrary.org/obo/HP_0006135							
HP:0006136	biolink:PhenotypicFeature	Bilateral postaxial polydactyly		UMLS:C1855003	hp.json		http://purl.obolibrary.org/obo/HP_0006136							
HP:0006140	biolink:PhenotypicFeature	Premature fusion of phalangeal epiphyses	Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.	UMLS:C1855620	hp.json	Premature fusion of end part of digital bone	http://purl.obolibrary.org/obo/HP_0006140							
HP:0006143	biolink:PhenotypicFeature	Abnormal finger flexion creases		UMLS:C1859481	hp.json		http://purl.obolibrary.org/obo/HP_0006143							
HP:0006144	biolink:PhenotypicFeature	Shortening of all proximal phalanges of the fingers	Congenital hypoplasia of proximal phalanx of finger or all fingers.	UMLS:C4025089	hp.json	Shortening of all innermost bones of the fingers	http://purl.obolibrary.org/obo/HP_0006144							
HP:0006145	biolink:PhenotypicFeature	Central Y-shaped metacarpal	A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.	UMLS:C1848597	hp.json	Y-shaped central long bones of hand	http://purl.obolibrary.org/obo/HP_0006145							
HP:0006146	biolink:PhenotypicFeature	Broad metacarpal epiphyses	Increased side-to-side width of the metacarpal epiphyses.	UMLS:C4025088	hp.json	Broad end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0006146							
HP:0006147	biolink:PhenotypicFeature	Progressive fusion 2nd-5th pip joints		UMLS:C1861310	hp.json		http://purl.obolibrary.org/obo/HP_0006147							
HP:0006149	biolink:PhenotypicFeature	Increased laxity of fingers		UMLS:C1850855	hp.json		http://purl.obolibrary.org/obo/HP_0006149							
HP:0006150	biolink:PhenotypicFeature	Swan neck-like deformities of the fingers	A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.	UMLS:C1849152	hp.json		http://purl.obolibrary.org/obo/HP_0006150							
HP:0006152	biolink:PhenotypicFeature	Proximal symphalangism of hands	The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.	UMLS:C4021607	hp.json	Fused innermost hinge joints|Proximal interphalangeal joint synostoses	http://purl.obolibrary.org/obo/HP_0006152							
HP:0006153	biolink:PhenotypicFeature	Disharmonious carpal bone		UMLS:C2675549	hp.json	Disharmonious wrist bone	http://purl.obolibrary.org/obo/HP_0006153							
HP:0006155	biolink:PhenotypicFeature	Long phalanx of finger	Increased length of multiple or a single phalanx of finger.	UMLS:C4025087	hp.json	Long finger bone	http://purl.obolibrary.org/obo/HP_0006155							
HP:0006156	biolink:PhenotypicFeature	Ulnar deviation of thumb	Bending or curvature of a thumb towards the ulnar side (towards the ring finger).	SNOMEDCT_US:299137000|UMLS:C0575904|UMLS:C4280465	hp.json	Curved thumb deviated towards palm|Ulnar deviation of the 1st finger	http://purl.obolibrary.org/obo/HP_0006156							
HP:0006157	biolink:PhenotypicFeature	Prominent palmar flexion creases		UMLS:C1865131|UMLS:C4280464	hp.json	Prominent life line	http://purl.obolibrary.org/obo/HP_0006157							
HP:0006158	biolink:PhenotypicFeature	obsolete Finger joint hyperextensibility			hp.json		http://purl.obolibrary.org/obo/HP_0006158							
HP:0006159	biolink:PhenotypicFeature	Mesoaxial hand polydactyly	The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.	UMLS:C4021606	hp.json	Interdigital finger polydactyly|Central hand polydactyly	http://purl.obolibrary.org/obo/HP_0006159							hposlim_core
HP:0006160	biolink:PhenotypicFeature	Irregular metacarpals	Irregular morphology of one or more metacarpal bones.	UMLS:C4025086	hp.json	Irregular long bones of hand	http://purl.obolibrary.org/obo/HP_0006160							
HP:0006161	biolink:PhenotypicFeature	Short metacarpals with rounded proximal ends		UMLS:C1856471	hp.json	Short long bone of hand with rounded innermost ends	http://purl.obolibrary.org/obo/HP_0006161							
HP:0006162	biolink:PhenotypicFeature	Soft tissue swelling of interphalangeal joints		UMLS:C1854913	hp.json	Soft tissue swelling of hinge joints	http://purl.obolibrary.org/obo/HP_0006162							
HP:0006163	biolink:PhenotypicFeature	Enlarged metacarpophalangeal joints		UMLS:C1859700	hp.json		http://purl.obolibrary.org/obo/HP_0006163							
HP:0006165	biolink:PhenotypicFeature	Proportionate shortening of all digits		UMLS:C1862157	hp.json	Proportionate shortening of all digits	http://purl.obolibrary.org/obo/HP_0006165							
HP:0006166	biolink:PhenotypicFeature	Tubular metacarpal bones		UMLS:C1859369	hp.json	Cylindrical shaped long bones of hand	http://purl.obolibrary.org/obo/HP_0006166							
HP:0006167	biolink:PhenotypicFeature	Prominent proximal interphalangeal joints		UMLS:C4025085	hp.json	Prominent innermost hinge joints	http://purl.obolibrary.org/obo/HP_0006167							
HP:0006169	biolink:PhenotypicFeature	Decreased mobility 3rd-5th fingers		UMLS:C1833882	hp.json	Decreased mobility 3rd-5th fingers	http://purl.obolibrary.org/obo/HP_0006169							
HP:0006170	biolink:PhenotypicFeature	Chess-pawn distal phalanges	A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.	UMLS:C1862097	hp.json	Chess-pawn shaped outermost bone	http://purl.obolibrary.org/obo/HP_0006170							
HP:0006172	biolink:PhenotypicFeature	Flattened, squared-off epiphyses of tubular bones		UMLS:C1834961	hp.json	Flattened, squared-off end part of tubular bones	http://purl.obolibrary.org/obo/HP_0006172							
HP:0006174	biolink:PhenotypicFeature	Metacarpal diaphyseal endosteal sclerosis	Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.	UMLS:C1840419	hp.json		http://purl.obolibrary.org/obo/HP_0006174							
HP:0006175	biolink:PhenotypicFeature	Proximal phalangeal periosteal thickening		UMLS:C1834348|UMLS:C4280463	hp.json	Thickening of connective tissue of innermost finger bone	http://purl.obolibrary.org/obo/HP_0006175							
HP:0006176	biolink:PhenotypicFeature	Two carpal ossification centers present at birth		UMLS:C1839285	hp.json	Two carpal ossification centres present at birth	http://purl.obolibrary.org/obo/HP_0006176							
HP:0006179	biolink:PhenotypicFeature	Pseudoepiphyses of second metacarpal		UMLS:C1862693	hp.json	Extra bone on end of second long bone of hand|Pseudoepiphysis of the 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0006179							
HP:0006180	biolink:PhenotypicFeature	Crowded carpal bones		UMLS:C1863317	hp.json	Crowded wrist bones	http://purl.obolibrary.org/obo/HP_0006180							
HP:0006184	biolink:PhenotypicFeature	Decreased palmar creases	Poorly defined or shallow palmar creases.	UMLS:C1857483	hp.json	Shallow palm line|Hypoplastic palmar creases|Poorly formed palmar creases|Shallow palmar creases	http://purl.obolibrary.org/obo/HP_0006184							hposlim_core
HP:0006185	biolink:PhenotypicFeature	Enlarged proximal interphalangeal joints		UMLS:C1861350	hp.json	Enlarged innermost hinge joint	http://purl.obolibrary.org/obo/HP_0006185							
HP:0006187	biolink:PhenotypicFeature	Fusion of midphalangeal joints		UMLS:C1861332	hp.json		http://purl.obolibrary.org/obo/HP_0006187							
HP:0006189	biolink:PhenotypicFeature	Prominent interdigital folds		UMLS:C1866000	hp.json		http://purl.obolibrary.org/obo/HP_0006189							
HP:0006190	biolink:PhenotypicFeature	Radially deviated wrists		UMLS:C1861316	hp.json		http://purl.obolibrary.org/obo/HP_0006190							
HP:0006191	biolink:PhenotypicFeature	Deep palmar crease	Excessively deep creases of the palm.	UMLS:C1857539	hp.json	Deep palm line|Deep palmar creases	http://purl.obolibrary.org/obo/HP_0006191							hposlim_core
HP:0006192	biolink:PhenotypicFeature	Tapered phalanx of finger	Phalanges of the fingers becoming thinner toward the distal end.	UMLS:C4025084	hp.json	Tapered finger bone	http://purl.obolibrary.org/obo/HP_0006192							
HP:0006193	biolink:PhenotypicFeature	Thimble-shaped middle phalanges of hand	The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.	UMLS:C4025083	hp.json	Thimble-shaped middle bones of hand	http://purl.obolibrary.org/obo/HP_0006193							
HP:0006200	biolink:PhenotypicFeature	Widened distal phalanges		UMLS:C1862421	hp.json	Widened outermost bone of limb	http://purl.obolibrary.org/obo/HP_0006200							
HP:0006201	biolink:PhenotypicFeature	Hypermobility of distal interphalangeal joints		UMLS:C1851811	hp.json	Increased mobility of outermost hinge joint	http://purl.obolibrary.org/obo/HP_0006201							
HP:0006202	biolink:PhenotypicFeature	Osteolysis of scaphoids		UMLS:C4025082	hp.json		http://purl.obolibrary.org/obo/HP_0006202							
HP:0006203	biolink:PhenotypicFeature	Decreased movement range in interphalangeal joints		UMLS:C1836772	hp.json	Decreased range of movement range in hinge joints	http://purl.obolibrary.org/obo/HP_0006203							
HP:0006205	biolink:PhenotypicFeature	Irregular phalanges	Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.	UMLS:C4025081	hp.json	Irregular finger bones	http://purl.obolibrary.org/obo/HP_0006205							
HP:0006206	biolink:PhenotypicFeature	Hypersegmentation of proximal phalanx of second finger	Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.	UMLS:C4025080	hp.json		http://purl.obolibrary.org/obo/HP_0006206							
HP:0006207	biolink:PhenotypicFeature	Partial fusion of carpals		UMLS:C1844519	hp.json		http://purl.obolibrary.org/obo/HP_0006207							
HP:0006208	biolink:PhenotypicFeature	Metaphyseal cupping of proximal phalanges	Metaphyseal cupping affecting the proximal phalanges.	UMLS:C1834980	hp.json		http://purl.obolibrary.org/obo/HP_0006208							
HP:0006209	biolink:PhenotypicFeature	Partial-complete absence of 5th phalanges		UMLS:C1867928	hp.json	Partial-complete absence of 5th digital bone	http://purl.obolibrary.org/obo/HP_0006209							
HP:0006210	biolink:PhenotypicFeature	Postaxial oligodactyly		UMLS:C1867927	hp.json		http://purl.obolibrary.org/obo/HP_0006210							
HP:0006213	biolink:PhenotypicFeature	Thin proximal phalanges with broad epiphyses of the hand		UMLS:C1862156|UMLS:C4025079	hp.json	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	biolink:PhenotypicFeature	Single interphalangeal crease of fifth finger	Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.	UMLS:C1850336	hp.json	Fifth finger single interphalangeal crease	http://purl.obolibrary.org/obo/HP_0006216							
HP:0006217	biolink:PhenotypicFeature	Limited mobility of proximal interphalangeal joint		UMLS:C1857288	hp.json	Limited mobility of innermost hinge joint	http://purl.obolibrary.org/obo/HP_0006217							
HP:0006224	biolink:PhenotypicFeature	Tapering pointed ends of distal finger phalanges	A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).	UMLS:C4025078	hp.json		http://purl.obolibrary.org/obo/HP_0006224							
HP:0006226	biolink:PhenotypicFeature	Osteoarthritis of the first carpometacarpal joint		SNOMEDCT_US:37895003|UMLS:C0409956	hp.json		http://purl.obolibrary.org/obo/HP_0006226							
HP:0006228	biolink:PhenotypicFeature	Valgus hand deformity		UMLS:C1860179	hp.json		http://purl.obolibrary.org/obo/HP_0006228							
HP:0006230	biolink:PhenotypicFeature	Unilateral oligodactyly		UMLS:C3805861	hp.json		http://purl.obolibrary.org/obo/HP_0006230							
HP:0006232	biolink:PhenotypicFeature	Expanded metacarpals with widened medullary cavities		UMLS:C1969288	hp.json		http://purl.obolibrary.org/obo/HP_0006232							
HP:0006233	biolink:PhenotypicFeature	Osteoarthritis of the distal interphalangeal joint		SNOMEDCT_US:239869009|UMLS:C0409957	hp.json		http://purl.obolibrary.org/obo/HP_0006233							
HP:0006234	biolink:PhenotypicFeature	Osteolysis involving tarsal bones	An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.	UMLS:C1833735	hp.json	Tarsal bone osteolysis|Tarsal osteolysis	http://purl.obolibrary.org/obo/HP_0006234							
HP:0006236	biolink:PhenotypicFeature	Slender metacarpals	Decreased width of the metacarpal bones (that is, reduced diameter).	UMLS:C4025077	hp.json	Slender long bones of hand	http://purl.obolibrary.org/obo/HP_0006236							
HP:0006237	biolink:PhenotypicFeature	Prominent interphalangeal joints		UMLS:C1859115	hp.json	Prominent hinge joints	http://purl.obolibrary.org/obo/HP_0006237							
HP:0006239	biolink:PhenotypicFeature	Shortening of all middle phalanges of the toes	Abnormal shortening of all middle phalanges of toes.	UMLS:C4021605	hp.json	Shortening of all the middle bones of the toes|Brachymesophalangy of feet	http://purl.obolibrary.org/obo/HP_0006239							
HP:0006243	biolink:PhenotypicFeature	Phalangeal dislocation		UMLS:C2673396	hp.json		http://purl.obolibrary.org/obo/HP_0006243							
HP:0006247	biolink:PhenotypicFeature	Enlarged interphalangeal joints		UMLS:C1859701	hp.json	Enlarged hinge joints	http://purl.obolibrary.org/obo/HP_0006247							
HP:0006248	biolink:PhenotypicFeature	Limited wrist movement	An abnormal limitation of the mobility of the wrist.	UMLS:C1840088	hp.json	Limited movement of the wrist|Limited wrist movement	http://purl.obolibrary.org/obo/HP_0006248							hposlim_core
HP:0006251	biolink:PhenotypicFeature	Limited wrist extension		UMLS:C1862481	hp.json		http://purl.obolibrary.org/obo/HP_0006251							
HP:0006252	biolink:PhenotypicFeature	Interphalangeal joint erosions		UMLS:C1850158	hp.json		http://purl.obolibrary.org/obo/HP_0006252							
HP:0006253	biolink:PhenotypicFeature	Swelling of proximal interphalangeal joints		UMLS:C1860841	hp.json	Swelling of innermost hinge joints	http://purl.obolibrary.org/obo/HP_0006253							
HP:0006254	biolink:PhenotypicFeature	Elevated alpha-fetoprotein	An increased concentration of alpha-fetoprotein.	UMLS:C0235971|UMLS:C0476489	hp.json	Increased levels of alpha fetoprotein|Increased serum alpha-fetoprotein|Serum alpha-fetoprotein increased|Alpha fetoprotein abnormal	http://purl.obolibrary.org/obo/HP_0006254							
HP:0006256	biolink:PhenotypicFeature	Abnormality of hand joint mobility		UMLS:C4025076	hp.json	Abnormality of hand joint mobility	http://purl.obolibrary.org/obo/HP_0006256							
HP:0006257	biolink:PhenotypicFeature	Abnormality of carpal bone ossification		UMLS:C4025075	hp.json	Abnormal ankle bone maturation	http://purl.obolibrary.org/obo/HP_0006257							
HP:0006261	biolink:PhenotypicFeature	Abnormal phalangeal joint morphology of the hand		UMLS:C4021604	hp.json	Abnormality of the small joints of the hand|Abnormality of phalangeal joints of the hand	http://purl.obolibrary.org/obo/HP_0006261							
HP:0006262	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 5th finger	A small/hypoplastic or absent/aplastic 5th finger.	UMLS:C4025074	hp.json	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							
HP:0006263	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 2nd finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.	UMLS:C4025073	hp.json	Abnormality of the end part of the index finger bone	http://purl.obolibrary.org/obo/HP_0006263							
HP:0006264	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 2nd finger	A small/hypoplastic or absent/aplastic 2nd finger.	UMLS:C4025072	hp.json	Absent/small index finger|Absent/underdeveloped index finger	http://purl.obolibrary.org/obo/HP_0006264							
HP:0006265	biolink:PhenotypicFeature	Aplasia/Hypoplasia of fingers	Small/hypoplastic or absent/aplastic fingers.	UMLS:C4025071	hp.json	Absent/small fingers|Absent/underdeveloped fingers	http://purl.obolibrary.org/obo/HP_0006265							
HP:0006266	biolink:PhenotypicFeature	Small placenta	Reduced size of the placenta.	SNOMEDCT_US:289264006|UMLS:C0566694	hp.json	Small placenta	http://purl.obolibrary.org/obo/HP_0006266							
HP:0006267	biolink:PhenotypicFeature	Large placenta	Increased size of the placenta.	SNOMEDCT_US:289263000|UMLS:C0566693	hp.json	Large placenta|Placental enlargement	http://purl.obolibrary.org/obo/HP_0006267							
HP:0006268	biolink:PhenotypicFeature	Fluctuating splenomegaly	Intermittently increased size of the spleen.	UMLS:C1835882	hp.json		http://purl.obolibrary.org/obo/HP_0006268							
HP:0006270	biolink:PhenotypicFeature	Hypoplastic spleen	Underdevelopment of the spleen.	UMLS:C1970617	hp.json	Underdeveloped spleen	http://purl.obolibrary.org/obo/HP_0006270							
HP:0006273	biolink:PhenotypicFeature	Pancreatic lymphangiectasis	The presence of lymphangiectasis in the pancreas.	UMLS:C1856162	hp.json		http://purl.obolibrary.org/obo/HP_0006273							
HP:0006274	biolink:PhenotypicFeature	Reduced pancreatic beta cells	Reduced number of beta cells in the pancreatic islets of Langerhans.	UMLS:C1856904	hp.json		http://purl.obolibrary.org/obo/HP_0006274							
HP:0006276	biolink:PhenotypicFeature	Hyperechogenic pancreas		UMLS:C1857945	hp.json		http://purl.obolibrary.org/obo/HP_0006276							
HP:0006277	biolink:PhenotypicFeature	Pancreatic hyperplasia	Hyperplasia of the pancreas.	UMLS:C1851733	hp.json		http://purl.obolibrary.org/obo/HP_0006277							
HP:0006278	biolink:PhenotypicFeature	Ectopic pancreatic tissue	The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.	SNOMEDCT_US:264304000|UMLS:C0994638	hp.json	Abnormal pancreas location	http://purl.obolibrary.org/obo/HP_0006278							
HP:0006279	biolink:PhenotypicFeature	Beta-cell dysfunction		UMLS:C1969875	hp.json		http://purl.obolibrary.org/obo/HP_0006279							
HP:0006280	biolink:PhenotypicFeature	Chronic pancreatitis	A chronic form of pancreatitis.	MSH:D050500|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|UMLS:C0149521	hp.json	Chronic pancreas inflammation	http://purl.obolibrary.org/obo/HP_0006280							
HP:0006282	biolink:PhenotypicFeature	Generalized hypoplasia of dental enamel	A generalized form of developmental hypoplasia of the dental enamel.	UMLS:C4025070|UMLS:C4280462	hp.json	Generalised hypoplasia of dental enamel|Generalised hypoplasia of tooth enamel|Generalised dysplasia of tooth enamel|Generalized hypoplasia of tooth enamel|Generalized dysplasia of tooth enamel	http://purl.obolibrary.org/obo/HP_0006282							
HP:0006283	biolink:PhenotypicFeature	Multiple unerupted teeth	The presence of multiple embedded tooth germs which have failed to erupt.	UMLS:C4025069	hp.json	Multiple non-erupting teeth|Multiple unerupted teeth|Failure of eruption of multiple teeth	http://purl.obolibrary.org/obo/HP_0006283							
HP:0006285	biolink:PhenotypicFeature	Enamel hypomineralization	A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.	SNOMEDCT_US:109487003|UMLS:C3665628|UMLS:C4280253|UMLS:C4280460|UMLS:C4280461	hp.json	Poorly mineralized tooth enamel|Decreased enamel mineralisation|Hypomineralization of enamel|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							
HP:0006286	biolink:PhenotypicFeature	Yellow-brown discoloration of the teeth		UMLS:C1863008	hp.json	Yellow-brown discoloration of the teeth|Yellow-brown discolored teeth|Yellow-brown discoloured teeth|Yellow-brown tooth shade	http://purl.obolibrary.org/obo/HP_0006286							
HP:0006288	biolink:PhenotypicFeature	Advanced eruption of teeth	Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.	SNOMEDCT_US:16000003|UMLS:C0266054	hp.json	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							
HP:0006289	biolink:PhenotypicFeature	Agenesis of central incisor	Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.	UMLS:C1855000|UMLS:C4020819	hp.json	Absent central incisor|Absent central incisors|Missing central incisors|Failure of development of central incisor	http://purl.obolibrary.org/obo/HP_0006289							
HP:0006290	biolink:PhenotypicFeature	Discolored lateral incisors	The presence of discolored lateral incisors.	UMLS:C1866510|UMLS:C4280459	hp.json	Abnormality of color of front teeth|Discolored front teeth|Abnormality of colour of front teeth|Abnormality of colour of lateral incisor|Discoloured front teeth|Discoloured lateral incisors|Abnormality of color of lateral incisor|Abnormality of shade of lateral incisor	http://purl.obolibrary.org/obo/HP_0006290							
HP:0006291	biolink:PhenotypicFeature	Marked delay in eruption of permanent teeth		UMLS:C1863009	hp.json	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	biolink:PhenotypicFeature	Abnormality of dental eruption	An abnormality of tooth eruption.	SNOMEDCT_US:1086101000119107|SNOMEDCT_US:234949000|UMLS:C0012767|UMLS:C1859363|UMLS:C3874458	hp.json	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							
HP:0006293	biolink:PhenotypicFeature	Agenesis of maxillary central incisor	Agenesis of upper secondary incisor or of upper central primary incisor.	UMLS:C4025068|UMLS:C4280458	hp.json	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							
HP:0006297	biolink:PhenotypicFeature	Enamel hypoplasia	Developmental hypoplasia of the dental enamel.	MSH:D003744|SNOMEDCT_US:26597004|SNOMEDCT_US:699382004|SNOMEDCT_US:699421005|UMLS:C0011351|UMLS:C1851854|UMLS:C4280456|UMLS:C4280457	hp.json	Thin dental enamel|Thin tooth enamel|Underdeveloped teeth enamel|Defective enamel matrix|Dental enamel hypoplasia|Enamel hypoplasia|Enamel hypotrophy|Enamel, underdeveloped|Hypoplasia of dental enamel|Hypoplasia of tooth enamel|Dysplasia of tooth enamel|Enamel dysplasia	http://purl.obolibrary.org/obo/HP_0006297							
HP:0006298	biolink:PhenotypicFeature	Prolonged bleeding after dental extraction	Prolonged bleeding post dental extraction sufficient to require medical intervention.	UMLS:C1969572	hp.json	Prolonged bleeding after dental extraction	http://purl.obolibrary.org/obo/HP_0006298							
HP:0006302	biolink:PhenotypicFeature	Dagger-shaped pulp calcifications	Dagger-shaped calcifications in the dental pulp.	UMLS:C4025067	hp.json	Dagger shaped pulp denticles|Dagger shaped pulp stones	http://purl.obolibrary.org/obo/HP_0006302							
HP:0006304	biolink:PhenotypicFeature	Widely-spaced incisors		SNOMEDCT_US:196409003|UMLS:C0399545	hp.json	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	biolink:PhenotypicFeature	Atrophy of alveolar ridges		UMLS:C1855642|UMLS:C4280454|UMLS:C4280455	hp.json	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	biolink:PhenotypicFeature	Generalized microdontia	A generalized form of microdontia.	UMLS:C4025065	hp.json	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							
HP:0006313	biolink:PhenotypicFeature	Widely spaced primary teeth	Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.	UMLS:C4021603	hp.json	Wide gaps between baby teeth|Widely spaced baby teeth|Widely spaced milk teeth|Generalised spacing of primary teeth|Generalized spacing of primary teeth|Wide gaps between primary teeth|Widely spaced deciduous teeth	http://purl.obolibrary.org/obo/HP_0006313							
HP:0006315	biolink:PhenotypicFeature	Solitary median maxillary central incisor	A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.	MSH:C537342|SNOMEDCT_US:707609006|UMLS:C1840235	hp.json	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 median maxillary 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							hposlim_core
HP:0006316	biolink:PhenotypicFeature	Irregularly spaced teeth	Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.	UMLS:C1845878	hp.json	Irregular dental spacing|Irregularly spaced teeth|Variability of spacing between teeth|Variability of dental spacing	http://purl.obolibrary.org/obo/HP_0006316							
HP:0006321	biolink:PhenotypicFeature	Multiple non-erupting secondary teeth		UMLS:C1848904	hp.json	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	biolink:PhenotypicFeature	Premature loss of primary teeth	Loss of the primary (also known as deciduous) teeth before the usual age.	SNOMEDCT_US:122483006|SNOMEDCT_US:39034005|UMLS:C0266052	hp.json	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							hposlim_core
HP:0006326	biolink:PhenotypicFeature	Buried teeth encased in mucopolysaccharide		UMLS:C4025064	hp.json	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	biolink:PhenotypicFeature	Alveolar process hypoplasia	Underdevelopment of the alveolar process (also known as alveolar bone).	SNOMEDCT_US:708494003|UMLS:C1848905|UMLS:C3872671|UMLS:C4280451|UMLS:C4280452|UMLS:C4280453	hp.json	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							
HP:0006330	biolink:PhenotypicFeature	Rotated maxillary central incisors		UMLS:C4025063	hp.json	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	biolink:PhenotypicFeature	Supernumerary maxillary incisor	The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.	UMLS:C4025062	hp.json	Extra upper front tooth	http://purl.obolibrary.org/obo/HP_0006332							
HP:0006333	biolink:PhenotypicFeature	Crowded maxillary incisors	A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.	UMLS:C4021602	hp.json	Crowded upper front teeth|Crowded upper incisors|Overlapped upper front teeth|Overlapped maxillary incisors	http://purl.obolibrary.org/obo/HP_0006333							
HP:0006334	biolink:PhenotypicFeature	Hypoplasia of the primary teeth	Developmental hypoplasia of the primary teeth.	UMLS:C1855694	hp.json	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							
HP:0006335	biolink:PhenotypicFeature	Persistence of primary teeth	Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.	SNOMEDCT_US:57650002|UMLS:C0266050	hp.json	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							
HP:0006336	biolink:PhenotypicFeature	Short dental root	Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.	UMLS:C2678330	hp.json	Underdeveloped tooth roots|Decreased length of dental roots|Decreased length of tooth roots|Short dental roots|Short tooth roots|Underdeveloped dental roots|Dental root hypoplasia|Dental root hypotrophy|Rhizomicry|Root dwarfism	http://purl.obolibrary.org/obo/HP_0006336							
HP:0006337	biolink:PhenotypicFeature	Premature eruption of permanent teeth	Premature tooth eruption of the permanent dentition.	UMLS:C4021601	hp.json	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							hposlim_core
HP:0006338	biolink:PhenotypicFeature	Malformation of mandibular premolar	An abnormality of the morphology of secondary premolar tooth.	UMLS:C4025061	hp.json	Malformation of lower premolar|Malformation of mandibular bicuspid	http://purl.obolibrary.org/obo/HP_0006338							
HP:0006339	biolink:PhenotypicFeature	Conical mandibular incisor	An abnormal conical morphology of the primary or permanent mandibular incisors.	UMLS:C4020818|UMLS:C4280449|UMLS:C4280450	hp.json	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							
HP:0006342	biolink:PhenotypicFeature	Peg-shaped maxillary lateral incisors	A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter	UMLS:C4025060	hp.json	Peg laterals|Peg shaped upper lateral incisors|Peg-shaped tooth|Cone shaped upper lateral incisors|Conical maxillary lateral incisors|Conoid upper lateral incisors|Pointed upper lateral incisors	http://purl.obolibrary.org/obo/HP_0006342							
HP:0006344	biolink:PhenotypicFeature	Abnormality of primary molar morphology	An abnormality of morphology of primary molar.	UMLS:C4025059	hp.json	Abnormality of shape of baby molar|Abnormality of deciduous molar morphology|Abnormality of shape of primary molar	http://purl.obolibrary.org/obo/HP_0006344							
HP:0006346	biolink:PhenotypicFeature	Screwdriver-shaped incisors	An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.	UMLS:C4025058	hp.json	Screwdriver shaped front teeth|Screwdriver-shaped incisors	http://purl.obolibrary.org/obo/HP_0006346							
HP:0006347	biolink:PhenotypicFeature	Microdontia of primary teeth	Decreased size of the primary teeth.	UMLS:C1855694|UMLS:C1856203	hp.json	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							
HP:0006349	biolink:PhenotypicFeature	Agenesis of permanent teeth	A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.	MSH:C563203|SNOMEDCT_US:109444001|SNOMEDCT_US:234948008|UMLS:C0457756|UMLS:C1290511	hp.json	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							
HP:0006350	biolink:PhenotypicFeature	Pulp obliteration	Mineralized substance filling the entire dental pulp space.	UMLS:C4020817|UMLS:C4025057|UMLS:C4280448	hp.json	Obliteration of the pulp chamber|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							
HP:0006352	biolink:PhenotypicFeature	Failure of eruption of permanent teeth	Lack of tooth eruption of the secondary dentition.	UMLS:C4025056|UMLS:C4280447	hp.json	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							
HP:0006353	biolink:PhenotypicFeature	Hypoplasia of the tooth germ	Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.	UMLS:C4025055	hp.json	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							
HP:0006355	biolink:PhenotypicFeature	Agenesis of mandibular central incisor	Agenesis of lower secondary incisor or lower primary incisor.	UMLS:C1840225|UMLS:C4025054	hp.json	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							
HP:0006357	biolink:PhenotypicFeature	Premature loss of permanent teeth	Premature loss of the permanent teeth.	UMLS:C1969738	hp.json	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							
HP:0006358	biolink:PhenotypicFeature	Shovel-shaped maxillary central incisors	A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.	UMLS:C1833168	hp.json	Shovel-shaped upper front teeth|Shovel tooth	http://purl.obolibrary.org/obo/HP_0006358							
HP:0006361	biolink:PhenotypicFeature	Irregular femoral epiphysis		UMLS:C1850658	hp.json	Irregular thighbone end part	http://purl.obolibrary.org/obo/HP_0006361							
HP:0006362	biolink:PhenotypicFeature	Varus deformity of humeral neck		UMLS:C1854948	hp.json		http://purl.obolibrary.org/obo/HP_0006362							
HP:0006366	biolink:PhenotypicFeature	Adductor longus contractures		UMLS:C1859524	hp.json		http://purl.obolibrary.org/obo/HP_0006366							
HP:0006367	biolink:PhenotypicFeature	Crumpled long bones	An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.	UMLS:C1970497	hp.json	Crumpled long bones	http://purl.obolibrary.org/obo/HP_0006367							
HP:0006368	biolink:PhenotypicFeature	Forearm reduction defects		UMLS:C1849327	hp.json		http://purl.obolibrary.org/obo/HP_0006368							
HP:0006369	biolink:PhenotypicFeature	Irregular patellae	An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.	UMLS:C1836870	hp.json	Irregular patellar contour|Irregular patellar margins	http://purl.obolibrary.org/obo/HP_0006369							
HP:0006370	biolink:PhenotypicFeature	Distal ulnar epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.	UMLS:C4021600	hp.json	Distal ulnar epiphyseal calcifications	http://purl.obolibrary.org/obo/HP_0006370							
HP:0006371	biolink:PhenotypicFeature	Broad long bone diaphyses	Increased width of the diaphysis of long bones.	UMLS:C4025053	hp.json	Broad shaft of long bone|Wide shaft of long bone	http://purl.obolibrary.org/obo/HP_0006371							
HP:0006375	biolink:PhenotypicFeature	Dumbbell-shaped femur	The femur is shortened and displays flaring (widening) of the metaphyses.	UMLS:C4025052	hp.json	Dumbbell-shaped thighbone	http://purl.obolibrary.org/obo/HP_0006375							
HP:0006376	biolink:PhenotypicFeature	Limited elbow flexion		UMLS:C1856922	hp.json		http://purl.obolibrary.org/obo/HP_0006376							
HP:0006378	biolink:PhenotypicFeature	Osteolysis of patellae		UMLS:C4025051	hp.json		http://purl.obolibrary.org/obo/HP_0006378							
HP:0006379	biolink:PhenotypicFeature	Proximal tibial hypoplasia		UMLS:C1856029	hp.json	Proximal tibial hypopolasia	http://purl.obolibrary.org/obo/HP_0006379							
HP:0006380	biolink:PhenotypicFeature	Knee flexion contracture	A bent (flexed) knee joint that cannot be straightened actively or passively.	SNOMEDCT_US:202289003|UMLS:C0409355	hp.json	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							hposlim_core
HP:0006381	biolink:PhenotypicFeature	Rudimentary fibula	Absent or nearly absent fibula. (Does not include aplastic)	UMLS:C1844706	hp.json	Small to absent calf bone|Rudimentary to absent fibulae|Small to absent fibula	http://purl.obolibrary.org/obo/HP_0006381							
HP:0006383	biolink:PhenotypicFeature	Progressive bowing of long bones	Progressive bending or abnormal curvature of a long bone.	UMLS:C1857137	hp.json		http://purl.obolibrary.org/obo/HP_0006383							
HP:0006384	biolink:PhenotypicFeature	Club-shaped distal femur	An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.	UMLS:C1857505	hp.json	Club-shaped outermost end of thighbone|Club-shaped distal femora	http://purl.obolibrary.org/obo/HP_0006384							
HP:0006385	biolink:PhenotypicFeature	Short lower limbs	Shortening of the legs related to developmental hypoplasia of the bones of the leg.	SNOMEDCT_US:249786007|UMLS:C0426901	hp.json	Short legs|Short lower limbs	http://purl.obolibrary.org/obo/HP_0006385							hposlim_core
HP:0006386	biolink:PhenotypicFeature	Hypoplastic distal radial epiphyses	Underdevelopment of the distal epiphysis of the radius.	UMLS:C1969286	hp.json		http://purl.obolibrary.org/obo/HP_0006386							
HP:0006387	biolink:PhenotypicFeature	Wide distal femoral metaphysis	Increased width of the distal part of the shaft (metaphysis) of the femur.	UMLS:C1849309	hp.json	Broad outermost wide portion of thighbone|Wide distal metaphysis of femur	http://purl.obolibrary.org/obo/HP_0006387							
HP:0006389	biolink:PhenotypicFeature	Limited knee flexion	Reduced ability to flex (bend) the knee joint.	UMLS:C1839512	hp.json		http://purl.obolibrary.org/obo/HP_0006389							
HP:0006390	biolink:PhenotypicFeature	Anterior tibial bowing	An abnormal anterior bending or curvature of the tibia.	UMLS:C1861937	hp.json	Anterior bowing of tibia	http://purl.obolibrary.org/obo/HP_0006390							
HP:0006391	biolink:PhenotypicFeature	Overtubulated long bones	Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.	UMLS:C1848769	hp.json		http://purl.obolibrary.org/obo/HP_0006391							
HP:0006392	biolink:PhenotypicFeature	Increased density of long bones	An abnormal increase in the bone density of the long bones.	UMLS:C1849307	hp.json	Increased density of long bones	http://purl.obolibrary.org/obo/HP_0006392							
HP:0006394	biolink:PhenotypicFeature	Limited pronation/supination of forearm	A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).	UMLS:C1861331	hp.json	Limited pronation/supination of forearm	http://purl.obolibrary.org/obo/HP_0006394							hposlim_core
HP:0006397	biolink:PhenotypicFeature	Lateral displacement of patellae		UMLS:C1860156	hp.json		http://purl.obolibrary.org/obo/HP_0006397							
HP:0006398	biolink:PhenotypicFeature	Flat distal femoral epiphysis	An abnormal flattening of the distal epiphysis of femur.	UMLS:C4021599	hp.json	Flat end part of outermost thighbone|Flattened distal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0006398							
HP:0006400	biolink:PhenotypicFeature	Absent knee epiphyses		UMLS:C1859462	hp.json	Absent knee end part	http://purl.obolibrary.org/obo/HP_0006400							
HP:0006402	biolink:PhenotypicFeature	Distal shortening of limbs		UMLS:C1840307	hp.json	Short outer part of limbs	http://purl.obolibrary.org/obo/HP_0006402							
HP:0006406	biolink:PhenotypicFeature	Club-shaped proximal femur	An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.	UMLS:C1968611	hp.json	Club-shaped innermost end of thighbone	http://purl.obolibrary.org/obo/HP_0006406							
HP:0006407	biolink:PhenotypicFeature	Irregular distal femoral epiphysis	Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.	UMLS:C4025050	hp.json	Irregular outermost thighbone end part	http://purl.obolibrary.org/obo/HP_0006407							
HP:0006408	biolink:PhenotypicFeature	Distal tapering femur		UMLS:C4025049	hp.json	Tapering of outermost end of thighbone	http://purl.obolibrary.org/obo/HP_0006408							
HP:0006409	biolink:PhenotypicFeature	Progressive leg bowing	Progressive bending or abnormal curvature of the leg.	UMLS:C1855191	hp.json		http://purl.obolibrary.org/obo/HP_0006409							
HP:0006413	biolink:PhenotypicFeature	Broad tibial metaphyses		UMLS:C2678328	hp.json	Broad wide portion of shankbone|Broad wide portion of shinbone	http://purl.obolibrary.org/obo/HP_0006413							
HP:0006414	biolink:PhenotypicFeature	Distal tibial bowing	A bending or abnormal curvature of the distal portion of the tibia.	UMLS:C4021598	hp.json	Bowing of the distal tibia|Tibial bowing at ankle	http://purl.obolibrary.org/obo/HP_0006414							
HP:0006415	biolink:PhenotypicFeature	Cortically dense long tubular bones	Increased density of the compact bone of long bone.	UMLS:C1849276	hp.json		http://purl.obolibrary.org/obo/HP_0006415							
HP:0006417	biolink:PhenotypicFeature	Broad femoral metaphyses		UMLS:C1864854	hp.json	Broad wide portion of thigh bone	http://purl.obolibrary.org/obo/HP_0006417							
HP:0006420	biolink:PhenotypicFeature	Asymmetric radial dysplasia	The presence of asymmetric developmental dysplasia of the radius.	UMLS:C1969396	hp.json		http://purl.obolibrary.org/obo/HP_0006420							
HP:0006423	biolink:PhenotypicFeature	Peg-like central prominence of distal tibial metaphyses		UMLS:C1846160	hp.json		http://purl.obolibrary.org/obo/HP_0006423							
HP:0006424	biolink:PhenotypicFeature	Elongated radius	Increased length of the radius.	UMLS:C4025048	hp.json		http://purl.obolibrary.org/obo/HP_0006424							
HP:0006426	biolink:PhenotypicFeature	Rudimentary to absent tibiae		UMLS:C1968943	hp.json		http://purl.obolibrary.org/obo/HP_0006426							
HP:0006429	biolink:PhenotypicFeature	Broad femoral neck	An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	UMLS:C1849016	hp.json	Broadening of femoral neck|Wide femoral neck|Wide neck of thigh bone|Widened femoral necks	http://purl.obolibrary.org/obo/HP_0006429							
HP:0006431	biolink:PhenotypicFeature	Proximal femoral metaphyseal abnormality	An anomaly of the metaphysis of the proximal femur (close to the hip).	UMLS:C4025047	hp.json	Abnormal wide portion of innermost thighbone	http://purl.obolibrary.org/obo/HP_0006431							
HP:0006432	biolink:PhenotypicFeature	Trapezoidal distal femoral condyles		UMLS:C1843983	hp.json		http://purl.obolibrary.org/obo/HP_0006432							
HP:0006433	biolink:PhenotypicFeature	Radial dysplasia	Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.	UMLS:C4025046	hp.json	Dysplastic radii|Radial longitudinal deficiency	http://purl.obolibrary.org/obo/HP_0006433							
HP:0006434	biolink:PhenotypicFeature	Hypoplasia of proximal radius	Proximal radial shortening owing to a congenital defect of development.	UMLS:C1859477	hp.json	Proximal radial shortening	http://purl.obolibrary.org/obo/HP_0006434							
HP:0006436	biolink:PhenotypicFeature	obsolete Shortening of the tibia			hp.json		http://purl.obolibrary.org/obo/HP_0006436							
HP:0006437	biolink:PhenotypicFeature	Disproportionate prominence of the femoral medial condyle		UMLS:C1834392	hp.json		http://purl.obolibrary.org/obo/HP_0006437							
HP:0006438	biolink:PhenotypicFeature	Enlargement of the distal femoral epiphysis	An abnormal enlargement of the distal epiphysis of the femur.	UMLS:C1843105	hp.json	Enlargement of the outermost thighbone end part|Large distal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0006438							
HP:0006439	biolink:PhenotypicFeature	Radioulnar dislocation		UMLS:C2673394	hp.json	Dislocated radioulnar joints	http://purl.obolibrary.org/obo/HP_0006439							
HP:0006440	biolink:PhenotypicFeature	Increased density of long bone diaphyses		UMLS:C1844516	hp.json	Increased density of shaft of long bone	http://purl.obolibrary.org/obo/HP_0006440							
HP:0006441	biolink:PhenotypicFeature	Lateral humeral condyle aplasia		UMLS:C1833878	hp.json		http://purl.obolibrary.org/obo/HP_0006441							
HP:0006442	biolink:PhenotypicFeature	Hypoplasia of proximal fibula	Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.	UMLS:C1859478	hp.json	Small innermost upper end of calf bone|Underdeveloped innermost upper end of calf bone	http://purl.obolibrary.org/obo/HP_0006442							
HP:0006443	biolink:PhenotypicFeature	Patellar aplasia	Absence of the patella.	UMLS:C1868578	hp.json	Absent kneecap|Absent patella|Absent patellae|Absent patellas|Aplastic patellae	http://purl.obolibrary.org/obo/HP_0006443							hposlim_core
HP:0006446	biolink:PhenotypicFeature	Dysplastic patella		UMLS:C1849580	hp.json		http://purl.obolibrary.org/obo/HP_0006446							
HP:0006449	biolink:PhenotypicFeature	Distal radial epiphyseal osteolysis		UMLS:C1850145	hp.json		http://purl.obolibrary.org/obo/HP_0006449							
HP:0006450	biolink:PhenotypicFeature	Multicentric ossification of proximal femoral epiphyses		UMLS:C1857193	hp.json		http://purl.obolibrary.org/obo/HP_0006450							
HP:0006453	biolink:PhenotypicFeature	Lateral displacement of the femoral head	A developmental anomaly with lateral displacement of the femoral head.	UMLS:C1855758	hp.json	Laterally displaced femoral heads	http://purl.obolibrary.org/obo/HP_0006453							
HP:0006454	biolink:PhenotypicFeature	Delayed patellar ossification	Formation of bone in the patella later than normal.	UMLS:C4021597|UMLS:C4280446	hp.json	Delayed bone maturation of the knee cap|Delayed patellae ossification	http://purl.obolibrary.org/obo/HP_0006454							
HP:0006456	biolink:PhenotypicFeature	Irregular proximal tibial epiphyses	Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.	UMLS:C4025045	hp.json	Irregular innermost shankbone end part|Irregular innermost shinbone end part	http://purl.obolibrary.org/obo/HP_0006456							
HP:0006459	biolink:PhenotypicFeature	Dorsal subluxation of ulna	Partial dislocation of the ulna in the dorsal direction.	UMLS:C1851988	hp.json		http://purl.obolibrary.org/obo/HP_0006459							
HP:0006460	biolink:PhenotypicFeature	Increased laxity of ankles		UMLS:C1850854	hp.json		http://purl.obolibrary.org/obo/HP_0006460							
HP:0006461	biolink:PhenotypicFeature	Proximal femoral epiphysiolysis	Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.	MSH:D060048|UMLS:C0149887	hp.json	Slipped end part of innermost thighbone|Slipped capilal femoral epiphysis|Slipped capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0006461							
HP:0006462	biolink:PhenotypicFeature	Generalized bone demineralization	A generalized decrease in bone mineral density.	UMLS:C1833326	hp.json	Generalised bone demineralization	http://purl.obolibrary.org/obo/HP_0006462							
HP:0006463	biolink:PhenotypicFeature	Rickets of the lower limbs		UMLS:C1833323	hp.json		http://purl.obolibrary.org/obo/HP_0006463							
HP:0006465	biolink:PhenotypicFeature	Periosteal thickening of long tubular bones	Thickening of the periosteum of long bone.	UMLS:C1834345	hp.json		http://purl.obolibrary.org/obo/HP_0006465							
HP:0006466	biolink:PhenotypicFeature	Ankle flexion contracture	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.	UMLS:C1837407	hp.json	Ankle contracture|Ankle contractures|Contractures of the ankles	http://purl.obolibrary.org/obo/HP_0006466							
HP:0006467	biolink:PhenotypicFeature	Limited shoulder movement	A limitation of the range of movement of the shoulder joint.	UMLS:C1851313	hp.json	Limited shoulder movement	http://purl.obolibrary.org/obo/HP_0006467							hposlim_core
HP:0006470	biolink:PhenotypicFeature	Thin long bone diaphyses	Decreased width of the diaphysis of long bones.	UMLS:C1859449	hp.json	Thin shaft of long bone|Thin diaphyses of long bones	http://purl.obolibrary.org/obo/HP_0006470							
HP:0006471	biolink:PhenotypicFeature	Fixed elbow flexion		UMLS:C4025044	hp.json		http://purl.obolibrary.org/obo/HP_0006471							
HP:0006473	biolink:PhenotypicFeature	Anterior bowing of long bones	An abnormal anterior curvature of a long bone.	UMLS:C1850644	hp.json		http://purl.obolibrary.org/obo/HP_0006473							
HP:0006476	biolink:PhenotypicFeature	Abnormality of the pancreatic islet cells	An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.	UMLS:C4025043	hp.json		http://purl.obolibrary.org/obo/HP_0006476							
HP:0006477	biolink:PhenotypicFeature	Abnormality of the alveolar ridges	Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.	SNOMEDCT_US:235013007|UMLS:C0341007|UMLS:C4280445	hp.json	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							
HP:0006479	biolink:PhenotypicFeature	Abnormal dental pulp morphology	An abnormality of the dental pulp.	UMLS:C4025042	hp.json	Abnormality of the dental pulp|Abnormality of tooth pulp|Endodontic abnormality	http://purl.obolibrary.org/obo/HP_0006479							
HP:0006480	biolink:PhenotypicFeature	Premature loss of teeth	Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.	SNOMEDCT_US:234974002|SNOMEDCT_US:42756003|UMLS:C0232513|UMLS:C0399385	hp.json	Early tooth loss|Loss of teeth|Premature teeth loss|Premature tooth loss|Premature exfoliation of teeth	http://purl.obolibrary.org/obo/HP_0006480							hposlim_core
HP:0006481	biolink:PhenotypicFeature	Abnormality of primary teeth	Any abnormality of the primary tooth.	UMLS:C4021596	hp.json	Abnormality of baby teeth|Abnormality of milk teeth|Abnormality of deciduous teeth	http://purl.obolibrary.org/obo/HP_0006481							
HP:0006482	biolink:PhenotypicFeature	Abnormality of dental morphology	An abnormality of the morphology of the tooth.	MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444	hp.json	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							hposlim_core
HP:0006483	biolink:PhenotypicFeature	Abnormal number of teeth	The presence of an altered number of of teeth.	SNOMEDCT_US:335443002|UMLS:C1290508	hp.json	Abnormal number of teeth|Abnormal tooth count|Abnormal complement of teeth	http://purl.obolibrary.org/obo/HP_0006483							
HP:0006485	biolink:PhenotypicFeature	Agenesis of incisor	Agenesis of incisor.	UMLS:C4020815|UMLS:C4020816|UMLS:C4083290	hp.json	Absence of front tooth|Absence of incisors|Missing front tooth|Missing incisors|Failure of development of incisor	http://purl.obolibrary.org/obo/HP_0006485							
HP:0006486	biolink:PhenotypicFeature	Abnormal dental root morphology	An abnormality of the dental root.	UMLS:C4025041	hp.json	Abnormality of the dental root|Abnormality of tooth root|Dental root anomaly	http://purl.obolibrary.org/obo/HP_0006486							
HP:0006487	biolink:PhenotypicFeature	Bowing of the long bones	A bending or abnormal curvature of a long bone.	UMLS:C1855340	hp.json	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							
HP:0006488	biolink:PhenotypicFeature	Bowing of the arm	A bending or abnormal curvature affecting a long bone of the arm.	UMLS:C0426863	hp.json	Bending of the arm|Bowing of the arm	http://purl.obolibrary.org/obo/HP_0006488							
HP:0006489	biolink:PhenotypicFeature	Abnormality of the femoral metaphysis	An anomaly of the femoral metaphysis.	UMLS:C4025040|UMLS:C4280444	hp.json	Abnormality of the wide portion of the femoral bone	http://purl.obolibrary.org/obo/HP_0006489							
HP:0006490	biolink:PhenotypicFeature	Abnormality of lower-limb metaphyses		UMLS:C4025039	hp.json	Abnormality of the wide portion of the lower-limb bone	http://purl.obolibrary.org/obo/HP_0006490							
HP:0006491	biolink:PhenotypicFeature	Abnormality of the tibial metaphysis		UMLS:C4025038	hp.json	Abnormality of the wide portion of shankbone|Abnormality of the wide portion of shinbone	http://purl.obolibrary.org/obo/HP_0006491							
HP:0006492	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the fibula	Absence or underdevelopment of the fibula.	UMLS:C1856732	hp.json	Absent/small calf bone|Absent/underdeveloped calf bone|Fibular aplasia/hypoplasia|Hypoplastic/aplastic fibulae	http://purl.obolibrary.org/obo/HP_0006492							
HP:0006493	biolink:PhenotypicFeature	Aplasia/hypoplasia involving bones of the lower limbs	Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.	UMLS:C4025037	hp.json	Absent/small lower limb bones|Absent/underdeveloped lower limb bones	http://purl.obolibrary.org/obo/HP_0006493							
HP:0006494	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving bones of the feet		UMLS:C4025036	hp.json	Absent/small foot bones|Absent/underdeveloped foot bones	http://purl.obolibrary.org/obo/HP_0006494							
HP:0006495	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the ulna	Absence or underdevelopment of the ulna.	UMLS:C1865571	hp.json	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							
HP:0006496	biolink:PhenotypicFeature	Aplasia/hypoplasia involving bones of the upper limbs	Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.	UMLS:C4025035	hp.json	Absent/small bones of the upper limbs|Absent/underdeveloped bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0006496							
HP:0006498	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the patella	Absence or underdevelopment of the patella.	MSH:C535568|UMLS:C1868577	hp.json	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							
HP:0006499	biolink:PhenotypicFeature	Abnormality of femoral epiphysis	An anomaly of a growth plate of a femur.	UMLS:C4025034	hp.json	Abnormality of thighbone end part	http://purl.obolibrary.org/obo/HP_0006499							
HP:0006500	biolink:PhenotypicFeature	Abnormality of lower limb epiphysis morphology	An anomaly of one or more epiphyses of one or both legs.	UMLS:C4021595	hp.json	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							
HP:0006501	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the radius	A small/hypoplastic or absent/aplastic radius.	UMLS:C2749463	hp.json	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							
HP:0006502	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the carpal bones	Absence or underdevelopment of the carpal bones.	UMLS:C4025033	hp.json	Absent/small wrist bones|Absent/underdeveloped wrist bones	http://purl.obolibrary.org/obo/HP_0006502							
HP:0006503	biolink:PhenotypicFeature	Aplasia/hypoplasia involving forearm bones	Absence (due to failure to form) or underdevelopment of one or more forearm bones.	UMLS:C4025032	hp.json	Absent/small forearm bones|Absent/underdeveloped forearm bones	http://purl.obolibrary.org/obo/HP_0006503							
HP:0006504	biolink:PhenotypicFeature	obsolete Anomaly of the limb diaphyses morphology			hp.json	Abnormality of shaft of long bone of the limbs	http://purl.obolibrary.org/obo/HP_0006504							
HP:0006505	biolink:PhenotypicFeature	Abnormality of limb epiphysis morphology	An anomaly of one or more epiphyses of a limb.	UMLS:C4021593	hp.json	Abnormal shape of end part of limb bones|Abnormality involving the epiphyses of the limbs	http://purl.obolibrary.org/obo/HP_0006505							
HP:0006507	biolink:PhenotypicFeature	Aplasia/hypoplasia of the humerus	Absence (due to failure to form) or underdevelopment of the humerus.	UMLS:C4025031	hp.json	Absent/small long bone in upper arm|Absent/underdeveloped long bone in upper arm	http://purl.obolibrary.org/obo/HP_0006507							
HP:0006508	biolink:PhenotypicFeature	Abnormality of tibial epiphyses		UMLS:C4025030	hp.json	Abnormality of end part of shinbone	http://purl.obolibrary.org/obo/HP_0006508							
HP:0006509	biolink:PhenotypicFeature	Diverticulosis of trachea	Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).	SNOMEDCT_US:14011008|UMLS:C0340213	hp.json	Tracheal diverticulosis|Tracheal diverticulum|Tracheocele|Paratracheal air cyst	http://purl.obolibrary.org/obo/HP_0006509							
HP:0006510	biolink:PhenotypicFeature	Chronic pulmonary obstruction	An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.	MSH:D029424|SNOMEDCT_US:13645005|UMLS:C0024117	hp.json	COPD|Chronic obstructive pulmonary disease	http://purl.obolibrary.org/obo/HP_0006510							
HP:0006511	biolink:PhenotypicFeature	Laryngeal stridor	An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.	MSH:D007826|SNOMEDCT_US:406444002|SNOMEDCT_US:41432000|SNOMEDCT_US:53787002|UMLS:C0023066	hp.json	Laryngeal stidor	http://purl.obolibrary.org/obo/HP_0006511							
HP:0006514	biolink:PhenotypicFeature	Intraalveolar nodular calcifications		UMLS:C4025028	hp.json		http://purl.obolibrary.org/obo/HP_0006514							
HP:0006515	biolink:PhenotypicFeature	Interstitial pneumonitis		MSH:D017563|SNOMEDCT_US:64667001|UMLS:C0206061	hp.json		http://purl.obolibrary.org/obo/HP_0006515							
HP:0006516	biolink:PhenotypicFeature	Hypersensitivity pneumonitis	Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).	MSH:D000542|SNOMEDCT_US:37471005|UMLS:C0002390	hp.json		http://purl.obolibrary.org/obo/HP_0006516							
HP:0006517	biolink:PhenotypicFeature	Intraalveolar phospholipid accumulation	Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.	MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050	hp.json	Alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage|Pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/HP_0006517							
HP:0006518	biolink:PhenotypicFeature	Pulmonary venous occlusion	Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.	Fyler:3002|MSH:D011668|SNOMEDCT_US:89420002|UMLS:C0034091|UMLS:C4280802	hp.json	Pulmonary venous occlusion|Pulmonary venous stenosis|Pulmonary venoocclusive disease	http://purl.obolibrary.org/obo/HP_0006518							
HP:0006519	biolink:PhenotypicFeature	Alveolar cell carcinoma	Adenocarcinoma of the Bronchus.	MSH:D002282|SNOMEDCT_US:112677002|SNOMEDCT_US:36310008|SNOMEDCT_US:373627005|UMLS:C0007120	hp.json		http://purl.obolibrary.org/obo/HP_0006519							
HP:0006520	biolink:PhenotypicFeature	Progressive pulmonary function impairment		UMLS:C1849570	hp.json		http://purl.obolibrary.org/obo/HP_0006520							
HP:0006521	biolink:PhenotypicFeature	Pulmonary lymphangiectasia	Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.	UMLS:C1855480	hp.json	Pulmonary lymphangiectasis	http://purl.obolibrary.org/obo/HP_0006521							
HP:0006522	biolink:PhenotypicFeature	Repeated pneumothoraces		UMLS:C4025027	hp.json	Repeated pneumothorax	http://purl.obolibrary.org/obo/HP_0006522							
HP:0006524	biolink:PhenotypicFeature	Tracheobronchial leiomyomatosis		UMLS:C3806786	hp.json		http://purl.obolibrary.org/obo/HP_0006524							
HP:0006525	biolink:PhenotypicFeature	obsolete Lung segmentation defects			hp.json		http://purl.obolibrary.org/obo/HP_0006525							
HP:0006527	biolink:PhenotypicFeature	Lymphocytic interstitial pneumonia	Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.	MSH:C562489|SNOMEDCT_US:44274007|UMLS:C0264511	hp.json	Lymphocytic interstitial pneumonitis|Lymphoid interstitial pneumonia|Lymphoid interstitial pneumonitis	http://purl.obolibrary.org/obo/HP_0006527							
HP:0006528	biolink:PhenotypicFeature	Chronic lung disease	According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.	SNOMEDCT_US:413839001|UMLS:C0746102	hp.json	Chronic lung disease	http://purl.obolibrary.org/obo/HP_0006528							
HP:0006529	biolink:PhenotypicFeature	Abnormal pulmonary lymphatics	An abnormality of the pulmonary lymphatic chain.	UMLS:C4025026	hp.json		http://purl.obolibrary.org/obo/HP_0006529							
HP:0006530	biolink:PhenotypicFeature	Abnormal pulmonary interstitial morphology	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.	MSH:D017563|SNOMEDCT_US:233703007|UMLS:C0206062	hp.json	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							
HP:0006531	biolink:PhenotypicFeature	Pleural lymphangiectasia		UMLS:C1856139	hp.json		http://purl.obolibrary.org/obo/HP_0006531							
HP:0006532	biolink:PhenotypicFeature	Recurrent pneumonia	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.	SNOMEDCT_US:128601007|SNOMEDCT_US:699014000|UMLS:C0694550|UMLS:C0748140|UMLS:C0876973|UMLS:C1859117	hp.json	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							
HP:0006533	biolink:PhenotypicFeature	Bronchodysplasia		UMLS:C4025025	hp.json		http://purl.obolibrary.org/obo/HP_0006533							
HP:0006535	biolink:PhenotypicFeature	Recurrent intrapulmonary hemorrhage	A recurrent hemorrhage occurring within the lung.	UMLS:C3805919	hp.json	Recurrent bleeding into lungs|Recurrent intrapulmonary haemorrhage|Recurrent pulmonary haemorrhage|Recurrent pulmonary hemorrhage	http://purl.obolibrary.org/obo/HP_0006535							
HP:0006536	biolink:PhenotypicFeature	Airway obstruction	Obstruction of conducting airways of the lung.	MSH:D008173|UMLS:C0600260	hp.json	Obstructive lung disease|Pulmonary obstruction	http://purl.obolibrary.org/obo/HP_0006536							
HP:0006538	biolink:PhenotypicFeature	Recurrent bronchopulmonary infections	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.	UMLS:C2169795	hp.json	Recurrent infections in bronchi and lungs	http://purl.obolibrary.org/obo/HP_0006538							
HP:0006539	biolink:PhenotypicFeature	Bronchial cartilage hypoplasia		UMLS:C4025024	hp.json	Underdevelopment of the bronical cartilage	http://purl.obolibrary.org/obo/HP_0006539							
HP:0006541	biolink:PhenotypicFeature	obsolete Chronic obstructive airway disease from birth			hp.json		http://purl.obolibrary.org/obo/HP_0006541							
HP:0006543	biolink:PhenotypicFeature	Cardiorespiratory arrest		MSH:D006323|SNOMEDCT_US:410430005|UMLS:C0600228	hp.json		http://purl.obolibrary.org/obo/HP_0006543							
HP:0006544	biolink:PhenotypicFeature	Extrapulmonary sequestrum	A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.	UMLS:C4020814|UMLS:C4025023	hp.json	Diaphragmatic sequestrum	http://purl.obolibrary.org/obo/HP_0006544							
HP:0006548	biolink:PhenotypicFeature	Pulmonary arteriovenous malformation	Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.	Fyler:2210|UMLS:C1857690	hp.json	Pulmonary AV malformation	http://purl.obolibrary.org/obo/HP_0006548							
HP:0006549	biolink:PhenotypicFeature	Unilateral primary pulmonary dysgenesis		UMLS:C4021592	hp.json	Primary pulmonary dysgenesis, unilateral	http://purl.obolibrary.org/obo/HP_0006549							
HP:0006552	biolink:PhenotypicFeature	Fibrocystic lung disease		UMLS:C1397290	hp.json		http://purl.obolibrary.org/obo/HP_0006552							
HP:0006554	biolink:PhenotypicFeature	Acute hepatic failure	Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.	MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557	hp.json	Acute liver failure	http://purl.obolibrary.org/obo/HP_0006554							
HP:0006555	biolink:PhenotypicFeature	Diffuse hepatic steatosis	A diffuse form of hepatic steatosis.	UMLS:C1849686	hp.json	Hepatic steatosis, diffuse	http://purl.obolibrary.org/obo/HP_0006555							
HP:0006557	biolink:PhenotypicFeature	Polycystic liver disease		MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683	hp.json		http://purl.obolibrary.org/obo/HP_0006557							
HP:0006558	biolink:PhenotypicFeature	Decreased mitochondrial complex III activity in liver tissue	Decreased activity of complex III of the mitochondrion in the liver.	UMLS:C4025022	hp.json		http://purl.obolibrary.org/obo/HP_0006558							
HP:0006559	biolink:PhenotypicFeature	Hepatic calcification	The presence of abnormal calcium deposition in the liver.	UMLS:C1696466	hp.json	Liver calcifications	http://purl.obolibrary.org/obo/HP_0006559							
HP:0006560	biolink:PhenotypicFeature	Biliary hyperplasia	Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.	UMLS:C3672440|UMLS:C3686778	hp.json	Bile duct hyperplasia	http://purl.obolibrary.org/obo/HP_0006560							
HP:0006561	biolink:PhenotypicFeature	Lipid accumulation in hepatocytes		UMLS:C1837257	hp.json		http://purl.obolibrary.org/obo/HP_0006561							
HP:0006562	biolink:PhenotypicFeature	Viral hepatitis	Inflammation of the liver due to infection with a virus.	SNOMEDCT_US:3738000|UMLS:C0042721	hp.json		http://purl.obolibrary.org/obo/HP_0006562							
HP:0006563	biolink:PhenotypicFeature	Malformation of the hepatic ductal plate		UMLS:C1857519	hp.json		http://purl.obolibrary.org/obo/HP_0006563							
HP:0006564	biolink:PhenotypicFeature	Fluctuating hepatomegaly	Intermittently increased size of the liver.	UMLS:C1835881	hp.json		http://purl.obolibrary.org/obo/HP_0006564							
HP:0006565	biolink:PhenotypicFeature	Increased hepatocellular lipid droplets	An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.	UMLS:C4025021	hp.json		http://purl.obolibrary.org/obo/HP_0006565							
HP:0006566	biolink:PhenotypicFeature	Neonatal cholestatic liver disease		UMLS:C1859162	hp.json		http://purl.obolibrary.org/obo/HP_0006566							
HP:0006568	biolink:PhenotypicFeature	Increased hepatic glycogen content	An increase in the amount of glycogen stored in hepatocytes compared to normal.	UMLS:C1856285	hp.json	Increased liver glycogen content	http://purl.obolibrary.org/obo/HP_0006568							
HP:0006571	biolink:PhenotypicFeature	Reduced number of intrahepatic bile ducts	The presence of reduced numbers of intrahepatic bile duct than normal.	UMLS:C1861621|UMLS:C4021591	hp.json	Hepatic ductopenia|Intrahepatic duct deficiency	http://purl.obolibrary.org/obo/HP_0006571							
HP:0006572	biolink:PhenotypicFeature	Subacute progressive viral hepatitis		UMLS:C1861901	hp.json		http://purl.obolibrary.org/obo/HP_0006572							
HP:0006573	biolink:PhenotypicFeature	Acute hepatic steatosis	An acute form of hepatic steatosis.	UMLS:C4025020	hp.json	Acute fatty liver	http://purl.obolibrary.org/obo/HP_0006573							
HP:0006574	biolink:PhenotypicFeature	Hepatic arteriovenous malformation		SNOMEDCT_US:84150000|UMLS:C0520557	hp.json	Liver arteriovenous malformation	http://purl.obolibrary.org/obo/HP_0006574							
HP:0006575	biolink:PhenotypicFeature	Intrahepatic cholestasis with episodic jaundice		UMLS:C4025019	hp.json		http://purl.obolibrary.org/obo/HP_0006575							
HP:0006576	biolink:PhenotypicFeature	Hepatic vascular malformations		UMLS:C1861790	hp.json	Liver vascular malformations	http://purl.obolibrary.org/obo/HP_0006576							
HP:0006577	biolink:PhenotypicFeature	Macronodular cirrhosis	A type of cirrhosis characterized by the presence of large regenerative nodules.	SNOMEDCT_US:43904005|SNOMEDCT_US:86454000|UMLS:C2004456	hp.json		http://purl.obolibrary.org/obo/HP_0006577							
HP:0006579	biolink:PhenotypicFeature	Prolonged neonatal jaundice	Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.	MSH:D007567|SNOMEDCT_US:387712008|UMLS:C0022353|UMLS:C1859236	hp.json	Prolonged yellowing of skin in newborn|Neonatal jaundice|Jaundice, neonatal	http://purl.obolibrary.org/obo/HP_0006579							
HP:0006580	biolink:PhenotypicFeature	Portal fibrosis	Fibroblast proliferation and fiber expansion from the portal areas to the lobule.	UMLS:C2677002|UMLS:C3805083	hp.json	Portal fibrosis shown on biopsy	http://purl.obolibrary.org/obo/HP_0006580							
HP:0006581	biolink:PhenotypicFeature	Depletion of mitochondrial DNA in liver	An abnormal reduction in the number of mitochondria in hepatocytes.	UMLS:C4025018	hp.json		http://purl.obolibrary.org/obo/HP_0006581							
HP:0006582	biolink:PhenotypicFeature	Reye syndrome-like episodes	Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.	UMLS:C1850413	hp.json		http://purl.obolibrary.org/obo/HP_0006582							
HP:0006583	biolink:PhenotypicFeature	Fatal liver failure in infancy		UMLS:C4025017	hp.json	Fatal liver failure in infancy	http://purl.obolibrary.org/obo/HP_0006583							
HP:0006584	biolink:PhenotypicFeature	Small abnormally formed scapulae		UMLS:C1861226	hp.json	Small abnormally formed shoulder blade|Small abnormally formed scapula	http://purl.obolibrary.org/obo/HP_0006584							
HP:0006585	biolink:PhenotypicFeature	Congenital pseudoarthrosis of the clavicle	The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.	SNOMEDCT_US:249685004|SNOMEDCT_US:249690001|UMLS:C0426806|UMLS:C0426811	hp.json	Clavicle pseudoarthrosis|Pseudoarthrosis of clavicle|Bipartite clavicle	http://purl.obolibrary.org/obo/HP_0006585							
HP:0006587	biolink:PhenotypicFeature	Straight clavicles	An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .	UMLS:C4025016	hp.json	Straight collarbone	http://purl.obolibrary.org/obo/HP_0006587							
HP:0006589	biolink:PhenotypicFeature	Flaring of lower rib cage		UMLS:C1855196	hp.json	Flaring of lower rib cage	http://purl.obolibrary.org/obo/HP_0006589							
HP:0006590	biolink:PhenotypicFeature	Premature sternal synostosis	Prematurely closed sternal sutures.	UMLS:C4021590	hp.json	Prematurely closed sternal sutures	http://purl.obolibrary.org/obo/HP_0006590							
HP:0006591	biolink:PhenotypicFeature	Absent glenoid fossa	Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.	UMLS:C4021589	hp.json	Aplasia of the glenoid fossa	http://purl.obolibrary.org/obo/HP_0006591							
HP:0006593	biolink:PhenotypicFeature	Anomalous rib insertion to vertebrae		UMLS:C1861704	hp.json		http://purl.obolibrary.org/obo/HP_0006593							
HP:0006595	biolink:PhenotypicFeature	Scapulohumeral synostosis	Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.	UMLS:C1865362	hp.json	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							
HP:0006596	biolink:PhenotypicFeature	Restricted chest movement		UMLS:C4025015	hp.json	Restricted chest movement	http://purl.obolibrary.org/obo/HP_0006596							
HP:0006597	biolink:PhenotypicFeature	Diaphragmatic paralysis	The presence of a paralyzed diaphragm.	MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232	hp.json	Diaphragmatic paralysis|Paralyzed diaphragm|Paralysed diaphragm	http://purl.obolibrary.org/obo/HP_0006597							
HP:0006598	biolink:PhenotypicFeature	Irregular ossification at anterior rib ends		UMLS:C1850083	hp.json		http://purl.obolibrary.org/obo/HP_0006598							
HP:0006599	biolink:PhenotypicFeature	Medial widening of clavicles		UMLS:C1866729	hp.json		http://purl.obolibrary.org/obo/HP_0006599							
HP:0006600	biolink:PhenotypicFeature	Progressive calcification of costochondral cartilage		UMLS:C1968577	hp.json		http://purl.obolibrary.org/obo/HP_0006600							
HP:0006603	biolink:PhenotypicFeature	Flared, irregular rib ends		UMLS:C1865833	hp.json	Flared, irregular rib ends	http://purl.obolibrary.org/obo/HP_0006603							
HP:0006606	biolink:PhenotypicFeature	Irregular chondrocostal junctions	Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.	UMLS:C1861199	hp.json	Irregular costochondral margins	http://purl.obolibrary.org/obo/HP_0006606							
HP:0006607	biolink:PhenotypicFeature	Precocious costochondral ossification	Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.	UMLS:C1849049	hp.json		http://purl.obolibrary.org/obo/HP_0006607							
HP:0006608	biolink:PhenotypicFeature	Midclavicular hypoplasia	Underdevelopment of the middle portion of the clavicle.	UMLS:C1844530	hp.json	Underdeveloped middle portion of the collarbone	http://purl.obolibrary.org/obo/HP_0006608							
HP:0006610	biolink:PhenotypicFeature	Wide intermamillary distance	A larger than usual distance between the left and right nipple.	SNOMEDCT_US:423230008|UMLS:C1827524	hp.json	Wide-spaced nipples|Widely spaced nipples|Widely-spaced nipples	http://purl.obolibrary.org/obo/HP_0006610							hposlim_core
HP:0006611	biolink:PhenotypicFeature	Decreased number of sternal ossification centers	A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.	UMLS:C1856223	hp.json	Decreased number of sternal ossification centres	http://purl.obolibrary.org/obo/HP_0006611							
HP:0006615	biolink:PhenotypicFeature	Absent in utero rib ossification	Lack of formation and mineralization of the ribs in utero.	UMLS:C1842695	hp.json	Absent rib calcification in utero	http://purl.obolibrary.org/obo/HP_0006615							
HP:0006619	biolink:PhenotypicFeature	Anterior rib punctate calcifications	Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.	UMLS:C1859120	hp.json		http://purl.obolibrary.org/obo/HP_0006619							
HP:0006623	biolink:PhenotypicFeature	Costochondral joint sclerosis	Abnormal increase in density of the tissue at the costochondral junctions.	UMLS:C4021588	hp.json	Sclerotic costochondral joints	http://purl.obolibrary.org/obo/HP_0006623							
HP:0006625	biolink:PhenotypicFeature	Multifocal breast carcinoma	Breast carcinoma that is bilateral or otherwise multifocal.	UMLS:C2986662	hp.json	Multifocal breast cancer	http://purl.obolibrary.org/obo/HP_0006625							
HP:0006628	biolink:PhenotypicFeature	Absent sternal ossification	Lack of formation of mineralized bony tissue of the sternum.	UMLS:C1857074|UMLS:C4280443	hp.json	Absent bone maturation in sternum|Absent sternal mineralization|Lack of sternal ossification	http://purl.obolibrary.org/obo/HP_0006628							
HP:0006631	biolink:PhenotypicFeature	Hypoplastic distal segments of scapulae		UMLS:C4025014	hp.json	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	biolink:PhenotypicFeature	Glenoid fossa hypoplasia	Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.	UMLS:C1834384	hp.json	Glenoid hypoplasia|Hypoplastic glenoid fossa	http://purl.obolibrary.org/obo/HP_0006633							hposlim_core
HP:0006634	biolink:PhenotypicFeature	Osteosclerosis of ribs	Osteosclerosis of ribs (increased density related to increased bone mass).	UMLS:C4025013	hp.json	Increased bone density in ribs	http://purl.obolibrary.org/obo/HP_0006634							
HP:0006637	biolink:PhenotypicFeature	Sternal punctate calcifications		UMLS:C1859121	hp.json		http://purl.obolibrary.org/obo/HP_0006637							
HP:0006638	biolink:PhenotypicFeature	Midclavicular aplasia	Developmental defect resulting in congenital absence of the middle portion of the clavicle.	UMLS:C1844529	hp.json	Missing middle part of collarbone	http://purl.obolibrary.org/obo/HP_0006638							
HP:0006640	biolink:PhenotypicFeature	Multiple rib fractures	More than one fracture of the ribs.	SNOMEDCT_US:1261007|UMLS:C0272567	hp.json	Multiple rib fractures	http://purl.obolibrary.org/obo/HP_0006640							
HP:0006641	biolink:PhenotypicFeature	Prominent floating ribs		UMLS:C4025012	hp.json	Prominent floating ribs	http://purl.obolibrary.org/obo/HP_0006641							
HP:0006642	biolink:PhenotypicFeature	Large sternal ossification centers		UMLS:C1865241	hp.json	Large sternal ossification centres	http://purl.obolibrary.org/obo/HP_0006642							
HP:0006643	biolink:PhenotypicFeature	Fused sternal ossification centers		UMLS:C1859376	hp.json	Fused sternal ossification centres	http://purl.obolibrary.org/obo/HP_0006643							
HP:0006644	biolink:PhenotypicFeature	Thoracic dysplasia		UMLS:C1406921	hp.json		http://purl.obolibrary.org/obo/HP_0006644							
HP:0006645	biolink:PhenotypicFeature	Thin clavicles	Abnormally reduced diameter (cross section) of the clavicles.	SNOMEDCT_US:298764003|UMLS:C0575535	hp.json	Thin collarbone	http://purl.obolibrary.org/obo/HP_0006645							
HP:0006646	biolink:PhenotypicFeature	Costal cartilage calcification	Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.	UMLS:C1855608	hp.json	Cartilaginous ossification of rib	http://purl.obolibrary.org/obo/HP_0006646							
HP:0006647	biolink:PhenotypicFeature	Congenital microthorax		UMLS:C4025011	hp.json		http://purl.obolibrary.org/obo/HP_0006647							
HP:0006649	biolink:PhenotypicFeature	Costochondral pain	Chest wall pain in the area of the costochondral junctions.	UMLS:C4021587	hp.json	Costochondral junction pain	http://purl.obolibrary.org/obo/HP_0006649							
HP:0006650	biolink:PhenotypicFeature	Thickening of the lateral border of the scapula		UMLS:C1834383	hp.json	Thickening of the lateral border of the shoulder blade	http://purl.obolibrary.org/obo/HP_0006650							
HP:0006655	biolink:PhenotypicFeature	Rib segmentation abnormalities		UMLS:C1968999	hp.json		http://purl.obolibrary.org/obo/HP_0006655							
HP:0006657	biolink:PhenotypicFeature	Hypoplasia of first ribs		UMLS:C1834386	hp.json	Small first rib|Underdeveloped first rib|Hypoplastic first rib|Hypoplastic first ribs	http://purl.obolibrary.org/obo/HP_0006657							
HP:0006659	biolink:PhenotypicFeature	Internally rotated shoulders		UMLS:C1862491	hp.json	Internally rotated shoulders	http://purl.obolibrary.org/obo/HP_0006659							
HP:0006660	biolink:PhenotypicFeature	Aplastic clavicle	Absence of the clavicles as a developmental defect.	UMLS:C1857665	hp.json	Absent collarbone|Aplastic clavicles|Absent clavicles	http://purl.obolibrary.org/obo/HP_0006660							hposlim_core
HP:0006665	biolink:PhenotypicFeature	Coat hanger sign of ribs	An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).	UMLS:C4025010	hp.json	Coat hanger sign of ribs	http://purl.obolibrary.org/obo/HP_0006665							
HP:0006668	biolink:PhenotypicFeature	Twelfth rib hypoplasia		UMLS:C1859361	hp.json	Small twelfth rib|Underdeveloped twelfth rib	http://purl.obolibrary.org/obo/HP_0006668							
HP:0006670	biolink:PhenotypicFeature	Impaired myocardial contractility		UMLS:C4025009	hp.json		http://purl.obolibrary.org/obo/HP_0006670							
HP:0006671	biolink:PhenotypicFeature	Paroxysmal atrial tachycardia		SNOMEDCT_US:195069001|UMLS:C0030587	hp.json		http://purl.obolibrary.org/obo/HP_0006671							
HP:0006673	biolink:PhenotypicFeature	Reduced systolic function		UMLS:C4025008	hp.json		http://purl.obolibrary.org/obo/HP_0006673							
HP:0006677	biolink:PhenotypicFeature	Prolonged QRS complex	Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.	SNOMEDCT_US:991002|UMLS:C0235475	hp.json	Prolonged QRS complex on EKG	http://purl.obolibrary.org/obo/HP_0006677							
HP:0006679	biolink:PhenotypicFeature	Granulomatous coronary arteritis	Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.	UMLS:C4025007	hp.json		http://purl.obolibrary.org/obo/HP_0006679							
HP:0006681	biolink:PhenotypicFeature	Absent atrioventricular node		UMLS:C4025006	hp.json		http://purl.obolibrary.org/obo/HP_0006681							
HP:0006682	biolink:PhenotypicFeature	Ventricular extrasystoles	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.	MSH:D018879|SNOMEDCT_US:17338001|SNOMEDCT_US:251175005|UMLS:C0151636	hp.json	Extra heart beat|Missed heartbeat|Skipped heartbeat|Premature ventricular contractions	http://purl.obolibrary.org/obo/HP_0006682							
HP:0006683	biolink:PhenotypicFeature	Abnormal ventricular filling	An abnormality of filling of a ventricle with blood during diastole.	UMLS:C4025005	hp.json		http://purl.obolibrary.org/obo/HP_0006683							
HP:0006684	biolink:PhenotypicFeature	Ventricular preexcitation with multiple accessory pathways	A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.	UMLS:C4025004	hp.json		http://purl.obolibrary.org/obo/HP_0006684							
HP:0006685	biolink:PhenotypicFeature	Endocardial fibrosis	The presence of excessive connective tissue in the endocardium.	MSH:D004719|SNOMEDCT_US:398716006|UMLS:C0553980	hp.json	Endomyocardial fibrosis	http://purl.obolibrary.org/obo/HP_0006685							
HP:0006687	biolink:PhenotypicFeature	Aortic tortuosity	Abnormal tortuous (i.e., twisted) form of the aorta.	UMLS:C4025003	hp.json		http://purl.obolibrary.org/obo/HP_0006687							
HP:0006688	biolink:PhenotypicFeature	Paroxysmal tachycardia		MSH:D013614|SNOMEDCT_US:12026006|UMLS:C0039236	hp.json		http://purl.obolibrary.org/obo/HP_0006688							
HP:0006689	biolink:PhenotypicFeature	Bacterial endocarditis	A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.	MSH:D004697|SNOMEDCT_US:301183007|UMLS:C0014121	hp.json	Infective endocarditis	http://purl.obolibrary.org/obo/HP_0006689							
HP:0006690	biolink:PhenotypicFeature	Myocardial calcification	Calcium deposition in the myocardium.	Fyler:1889|UMLS:C1096561	hp.json	Calcified myocardium	http://purl.obolibrary.org/obo/HP_0006690							
HP:0006691	biolink:PhenotypicFeature	Pulmonic valve myxoma		UMLS:C4025002	hp.json		http://purl.obolibrary.org/obo/HP_0006691							
HP:0006692	biolink:PhenotypicFeature	Short chordae tendineae of the tricuspid valve	Abnormally short chordae tendineae of the tricuspid valve.	UMLS:C4025001	hp.json		http://purl.obolibrary.org/obo/HP_0006692							
HP:0006693	biolink:PhenotypicFeature	Myocardial steatosis	Steatosis in the myocardium.	UMLS:C4025000	hp.json		http://purl.obolibrary.org/obo/HP_0006693							
HP:0006694	biolink:PhenotypicFeature	Early progressive calcific cardiac valvular disease		UMLS:C4024999	hp.json		http://purl.obolibrary.org/obo/HP_0006694							
HP:0006695	biolink:PhenotypicFeature	Atrioventricular canal defect	A defect of the atrioventricular septum of the heart.	Fyler:0606|Fyler:1100|Fyler:606|MSH:C562831|MSH:D004694|SNOMEDCT_US:15459006|UMLS:C0014116|UMLS:C1389016	hp.json	Hole in center of heart|Hole in centre of heart|Atrioventricular septal defect|Endocardial cushion defect	http://purl.obolibrary.org/obo/HP_0006695							
HP:0006696	biolink:PhenotypicFeature	Polymorphic and polytopic ventricular extrasystoles		UMLS:C4024998	hp.json		http://purl.obolibrary.org/obo/HP_0006696							
HP:0006698	biolink:PhenotypicFeature	Dilatation of the ventricular cavity	A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.	SNOMEDCT_US:90539001|UMLS:C0392464	hp.json	Ventricular aneurysm	http://purl.obolibrary.org/obo/HP_0006698							
HP:0006699	biolink:PhenotypicFeature	Premature atrial contractions	A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.	MSH:D018880|SNOMEDCT_US:284470004|SNOMEDCT_US:287057009|SNOMEDCT_US:406461004|SNOMEDCT_US:63593006|UMLS:C0033036	hp.json	PACs|Atrial ectopic beats|Atrial premature complex|Ectopic supraventricular rhythms|Premature supraventricular beats	http://purl.obolibrary.org/obo/HP_0006699							
HP:0006702	biolink:PhenotypicFeature	Coronary artery dissection	Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.	MSH:C565153|UMLS:C1852540	hp.json		http://purl.obolibrary.org/obo/HP_0006702							
HP:0006703	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the lungs		UMLS:C4024996	hp.json	Absent/small lungs|Absent/underdeveloped lungs	http://purl.obolibrary.org/obo/HP_0006703							
HP:0006704	biolink:PhenotypicFeature	Abnormal coronary artery morphology	Any structural abnormality of the coronary arteries.	Fyler:3100|SNOMEDCT_US:28574005|UMLS:C0158623	hp.json		http://purl.obolibrary.org/obo/HP_0006704							
HP:0006705	biolink:PhenotypicFeature	Abnormal atrioventricular valve morphology	An abnormality of an atrioventricular valve.	UMLS:C4024995	hp.json	Abnormality of the atrioventricular valves	http://purl.obolibrary.org/obo/HP_0006705							
HP:0006706	biolink:PhenotypicFeature	Cystic liver disease		MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683	hp.json		http://purl.obolibrary.org/obo/HP_0006706							
HP:0006707	biolink:PhenotypicFeature	Abnormality of the hepatic vasculature	An abnormality of the hepatic vasculature.	UMLS:C4024994	hp.json	Abnormality of liver blood vessels|Abnormality of the liver vasculature	http://purl.obolibrary.org/obo/HP_0006707							
HP:0006709	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the nipples		UMLS:C3150086	hp.json	Absent/small nipples|Absent/underdeveloped nipples|Absent/rudimentary nipples|Nipples absent or rudimentary	http://purl.obolibrary.org/obo/HP_0006709							
HP:0006710	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the clavicles	Absence or underdevelopment of the clavicles (collar bones).	UMLS:C4024993	hp.json	Absent/small collarbone|Absent/underdeveloped collarbone	http://purl.obolibrary.org/obo/HP_0006710							
HP:0006711	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving bones of the thorax		UMLS:C4024992	hp.json	Absent/small outermost thorax bone|Absent/underdeveloped thorax bone	http://purl.obolibrary.org/obo/HP_0006711							
HP:0006712	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the ribs		UMLS:C1847363	hp.json	Absent/small ribs|Absent/underdeveloped ribs|Hypoplastic or missing ribs	http://purl.obolibrary.org/obo/HP_0006712							
HP:0006713	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the scapulae		UMLS:C4024991	hp.json	Absent/small shoulder blade|Absent/underdeveloped shoulder blade	http://purl.obolibrary.org/obo/HP_0006713							
HP:0006714	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the sternum		UMLS:C4024990	hp.json	Absent/small sternum|Absent/underdeveloped sternum	http://purl.obolibrary.org/obo/HP_0006714							
HP:0006715	biolink:PhenotypicFeature	Glomus tympanicum paraganglioma		UMLS:C1866555	hp.json	Tympanic nerve tumour|Tympanic nerve tumours|Tympanic nerve tumor|Tympanic nerve tumors	http://purl.obolibrary.org/obo/HP_0006715							
HP:0006716	biolink:PhenotypicFeature	Hereditary nonpolyposis colorectal carcinoma		UMLS:C4024989	hp.json		http://purl.obolibrary.org/obo/HP_0006716							
HP:0006717	biolink:PhenotypicFeature	Peripheral neuroepithelioma		SNOMEDCT_US:254764001|UMLS:C3489398	hp.json		http://purl.obolibrary.org/obo/HP_0006717							
HP:0006719	biolink:PhenotypicFeature	Benign gastrointestinal tract tumors		SNOMEDCT_US:92118007|UMLS:C0497538	hp.json	Benign GI tract tumors|Non-cancerous GI tumors|Benign GI tract tumours|Benign gastrointestinal tract tumours|Non-cancerous GI tumours	http://purl.obolibrary.org/obo/HP_0006719							
HP:0006721	biolink:PhenotypicFeature	Acute lymphoblastic leukemia	A form of acute leukemia characterized by excess lympoblasts.	SNOMEDCT_US:128822004|SNOMEDCT_US:91857003|UMLS:C0023449	hp.json	Acute lymphatic leukaemia|Acute lymphoblastic leukaemia|Acute lymphocytic leukaemia|Acute lymphoid leukaemia|Acute lymphatic leukemia|Acute lymphocytic leukemia|Acute lymphoid leukemia	http://purl.obolibrary.org/obo/HP_0006721							
HP:0006722	biolink:PhenotypicFeature	Small intestine carcinoid		UMLS:C1868072	hp.json		http://purl.obolibrary.org/obo/HP_0006722							
HP:0006723	biolink:PhenotypicFeature	Intestinal carcinoid		UMLS:C4024988	hp.json		http://purl.obolibrary.org/obo/HP_0006723							
HP:0006725	biolink:PhenotypicFeature	Pancreatic adenocarcinoma	The presence of an adenocarcinoma of the pancreas.	NCIT:C2852|SNOMEDCT_US:700423003|UMLS:C0281361	hp.json		http://purl.obolibrary.org/obo/HP_0006725							
HP:0006727	biolink:PhenotypicFeature	T-cell acute lymphoblastic leukemias	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.	MSH:D054218|SNOMEDCT_US:128824003|SNOMEDCT_US:277575008|UMLS:C1961099	hp.json		http://purl.obolibrary.org/obo/HP_0006727							
HP:0006729	biolink:PhenotypicFeature	Retroperitoneal chemodectomas		NCIT:C3308|UMLS:C4024987	hp.json		http://purl.obolibrary.org/obo/HP_0006729							
HP:0006731	biolink:PhenotypicFeature	Follicular thyroid carcinoma	The presence of an follicular adenocarcinoma of the thyroid gland.	MSH:D018263|NCIT:C8054|SNOMEDCT_US:255028004|SNOMEDCT_US:28173006|SNOMEDCT_US:5257006|UMLS:C0206682	hp.json		http://purl.obolibrary.org/obo/HP_0006731							
HP:0006732	biolink:PhenotypicFeature	Papillary renal cell carcinoma type 2	A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.	UMLS:C1336840	hp.json		http://purl.obolibrary.org/obo/HP_0006732							
HP:0006733	biolink:PhenotypicFeature	Acute megakaryocytic leukemia	A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.	MSH:D015470|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|UMLS:C0023467	hp.json	AMegL|Acute megakaryocytic leukaemia	http://purl.obolibrary.org/obo/HP_0006733							
HP:0006735	biolink:PhenotypicFeature	Renal cortical adenoma	The presence of an adenoma in the cortex of the kidney.	NCIT:C2855|SNOMEDCT_US:254919009|UMLS:C0346253	hp.json	Kidney cortical adenoma	http://purl.obolibrary.org/obo/HP_0006735							
HP:0006737	biolink:PhenotypicFeature	Extraadrenal pheochromocytoma	Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.	MSH:D010673|UMLS:C1257877	hp.json	Pheochromocytoma, extraadrenal	http://purl.obolibrary.org/obo/HP_0006737							
HP:0006739	biolink:PhenotypicFeature	Squamous cell carcinoma of the skin	Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.	SNOMEDCT_US:254651007|UMLS:C0553723	hp.json	Squamous skin carcinoma	http://purl.obolibrary.org/obo/HP_0006739							
HP:0006740	biolink:PhenotypicFeature	Transitional cell carcinoma of the bladder	The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.	NCIT:C2930|SNOMEDCT_US:255109008|UMLS:C0279680	hp.json	Transitional cell bladder carcinoma	http://purl.obolibrary.org/obo/HP_0006740							
HP:0006742	biolink:PhenotypicFeature	Congenital neuroblastoma		UMLS:C4024986	hp.json		http://purl.obolibrary.org/obo/HP_0006742							
HP:0006743	biolink:PhenotypicFeature	Embryonal rhabdomyosarcoma		MSH:D018233|NCIT:C8971|SNOMEDCT_US:14269005|SNOMEDCT_US:404051002|UMLS:C0206656	hp.json		http://purl.obolibrary.org/obo/HP_0006743							
HP:0006744	biolink:PhenotypicFeature	Adrenocortical carcinoma	A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.	MSH:D018268|NCIT:C2916|SNOMEDCT_US:2227007|SNOMEDCT_US:255035007|UMLS:C0206686	hp.json	Adrenal carcinoma|Adrenal gland carinoma	http://purl.obolibrary.org/obo/HP_0006744							
HP:0006747	biolink:PhenotypicFeature	Ganglioneuroblastoma		MSH:D018305|SNOMEDCT_US:116381000119105|SNOMEDCT_US:69515008|UMLS:C0206718	hp.json		http://purl.obolibrary.org/obo/HP_0006747							
HP:0006748	biolink:PhenotypicFeature	Adrenal pheochromocytoma	Pheochromocytoma originating from the adrenal medulla.	MSH:D010673|NCIT:C3326|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|SNOMEDCT_US:85583005|UMLS:C0031511	hp.json	Pheochromocytoma, adrenal|Pheochromocytomas, adrenal	http://purl.obolibrary.org/obo/HP_0006748							
HP:0006749	biolink:PhenotypicFeature	Malignant gastrointestinal tract tumors		MSH:D005770|SNOMEDCT_US:428905002|UMLS:C0685938	hp.json	Malignant GI tract tumors|Malignant GI tract tumours|Malignant gastrointestinal tract tumours	http://purl.obolibrary.org/obo/HP_0006749							
HP:0006751	biolink:PhenotypicFeature	Paraspinal neurofibromas		UMLS:C4024985	hp.json		http://purl.obolibrary.org/obo/HP_0006751							
HP:0006753	biolink:PhenotypicFeature	Neoplasm of the stomach	A tumor (abnormal growth of tissue) of the stomach.	MSH:D013274|NCIT:C3262|SNOMEDCT_US:126824007|UMLS:C0038356|UMLS:C4020813	hp.json	Stomach tumor|Stomach tumour|Neoplasia of the stomach	http://purl.obolibrary.org/obo/HP_0006753							
HP:0006755	biolink:PhenotypicFeature	Cutaneous leiomyosarcoma	The presence of leiomyosarcoma of the skin.	NCIT:C3158|SNOMEDCT_US:254771006|UMLS:C0346067	hp.json		http://purl.obolibrary.org/obo/HP_0006755							
HP:0006756	biolink:PhenotypicFeature	Diffuse leiomyomatosis		UMLS:C4024984	hp.json		http://purl.obolibrary.org/obo/HP_0006756							
HP:0006758	biolink:PhenotypicFeature	Malignant genitourinary tract tumor	The presence of a malignant neoplasm of the genital system.	UMLS:C1834728	hp.json	Malignant GU tract tumor|Malignant GU tract tumour|Malignant genitourinary tract tumour	http://purl.obolibrary.org/obo/HP_0006758							
HP:0006762	biolink:PhenotypicFeature	Renal pelvic carcinoma	The presence of a carcinoma in the renal pelvis.	NCIT:C2916|UMLS:C4024983	hp.json		http://purl.obolibrary.org/obo/HP_0006762							
HP:0006763	biolink:PhenotypicFeature	Anal canal squamous carcinoma		UMLS:C4024982	hp.json		http://purl.obolibrary.org/obo/HP_0006763							
HP:0006765	biolink:PhenotypicFeature	Chondrosarcoma	A slowly growing malignant neoplasm derived from cartilage cells.	MSH:D002813|NCIT:C2946|SNOMEDCT_US:14990007|SNOMEDCT_US:443520009|UMLS:C0008479	hp.json		http://purl.obolibrary.org/obo/HP_0006765							
HP:0006766	biolink:PhenotypicFeature	Papillary renal cell carcinoma	The presence of renal cell carcinoma in the renal papilla.	MSH:D002292|NCIT:C2916|UMLS:C1306837	hp.json		http://purl.obolibrary.org/obo/HP_0006766							
HP:0006767	biolink:PhenotypicFeature	Pituitary prolactin cell adenoma	A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.	MSH:D015175|SNOMEDCT_US:134209002|SNOMEDCT_US:34337008|UMLS:C0033375	hp.json	Pituitary prolactinoma|Prolactin-secreting pituitary adenoma	http://purl.obolibrary.org/obo/HP_0006767							
HP:0006768	biolink:PhenotypicFeature	Localized neuroblastoma		UMLS:C4024981	hp.json	Localised neuroblastoma	http://purl.obolibrary.org/obo/HP_0006768							
HP:0006769	biolink:PhenotypicFeature	Myxoid subcutaneous tumors		UMLS:C1834421	hp.json	Myxoid subcutaneous tumours	http://purl.obolibrary.org/obo/HP_0006769							
HP:0006770	biolink:PhenotypicFeature	Clear cell renal cell carcinoma	A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.	MSH:D002292|SNOMEDCT_US:188251003|SNOMEDCT_US:254915003|SNOMEDCT_US:41607009|UMLS:C0279702	hp.json	Nonpapillary renal cell carcinoma	http://purl.obolibrary.org/obo/HP_0006770							
HP:0006771	biolink:PhenotypicFeature	Duodenal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the duodenum.	MSH:D004379|NCIT:C2852|SNOMEDCT_US:254570009|SNOMEDCT_US:408644002|UMLS:C0278804|UMLS:C0541912	hp.json	Duodenal cancer	http://purl.obolibrary.org/obo/HP_0006771							
HP:0006772	biolink:PhenotypicFeature	Renal angiomyolipoma	A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.	NCIT:C3734|SNOMEDCT_US:254921004|UMLS:C0241961	hp.json	Angiomyolipoma|Kidney angiomyolipoma	http://purl.obolibrary.org/obo/HP_0006772							
HP:0006773	biolink:PhenotypicFeature	Cutaneous angiolipomas		NCIT:C3733|UMLS:C4024980	hp.json		http://purl.obolibrary.org/obo/HP_0006773							
HP:0006774	biolink:PhenotypicFeature	Ovarian papillary adenocarcinoma	The presence of a papillary adenocarcinoma of the ovary.	NCIT:C2853|UMLS:C4024979	hp.json		http://purl.obolibrary.org/obo/HP_0006774							
HP:0006775	biolink:PhenotypicFeature	Multiple myeloma	A malignant plasma cell tumor growing within soft tissue or within the skeleton.	MSH:D009101|MSH:D010954|SNOMEDCT_US:10639003|SNOMEDCT_US:109989006|SNOMEDCT_US:415112005|SNOMEDCT_US:55921005|UMLS:C0026764|UMLS:C0032131	hp.json	Kahler's disease|Plasmocytoma	http://purl.obolibrary.org/obo/HP_0006775							
HP:0006778	biolink:PhenotypicFeature	Benign genitourinary tract neoplasm	A non-malignant neoplasm of the genitourinary system.	UMLS:C3804991	hp.json	Benign GU tract neoplasm|Benign genitourinary tract tumour|Benign genitourinary tract tumor	http://purl.obolibrary.org/obo/HP_0006778							
HP:0006779	biolink:PhenotypicFeature	Alveolar rhabdomyosarcoma		MSH:D018232|NCIT:C3749|SNOMEDCT_US:404053004|SNOMEDCT_US:63449009|UMLS:C0206655	hp.json		http://purl.obolibrary.org/obo/HP_0006779							
HP:0006780	biolink:PhenotypicFeature	Parathyroid carcinoma	A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.	MSH:D010282|NCIT:C2916|SNOMEDCT_US:255037004|SNOMEDCT_US:363481002|UMLS:C0687150	hp.json	Parathyroid Cancer	http://purl.obolibrary.org/obo/HP_0006780							
HP:0006781	biolink:PhenotypicFeature	Hurthle cell thyroid adenoma	A kind of thyroid adenoma characterized by the presence of oxyphil cells.	UMLS:C1336750	hp.json		http://purl.obolibrary.org/obo/HP_0006781							
HP:0006782	biolink:PhenotypicFeature	Malignant eosinophil proliferation		MSH:C565054|UMLS:C1851585	hp.json		http://purl.obolibrary.org/obo/HP_0006782							
HP:0006783	biolink:PhenotypicFeature	Posterior pharyngeal cleft		UMLS:C1848389	hp.json		http://purl.obolibrary.org/obo/HP_0006783							
HP:0006784	biolink:PhenotypicFeature	Paranasal sinus hypoplasia	Underdevelopment of the paranasal sinuses.	UMLS:C2749161|UMLS:C4280256|UMLS:C4280441|UMLS:C4280442	hp.json	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							
HP:0006785	biolink:PhenotypicFeature	Limb-girdle muscular dystrophy	Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).	MSH:D049288|SNOMEDCT_US:93153005|UMLS:C0686353	hp.json	limb girdle muscular dystrophy	http://purl.obolibrary.org/obo/HP_0006785							
HP:0006789	biolink:PhenotypicFeature	Mitochondrial encephalopathy		MSH:C538525|UMLS:C1852373	hp.json		http://purl.obolibrary.org/obo/HP_0006789							
HP:0006790	biolink:PhenotypicFeature	Cerebral cortex with spongiform changes		UMLS:C1857934	hp.json		http://purl.obolibrary.org/obo/HP_0006790							
HP:0006794	biolink:PhenotypicFeature	Loss of ability to walk in first decade		UMLS:C1846133	hp.json	Loss of ability to walk in first decade	http://purl.obolibrary.org/obo/HP_0006794							
HP:0006799	biolink:PhenotypicFeature	Basal ganglia cysts		UMLS:C1837251	hp.json	Cystic lesions in the basal ganglia	http://purl.obolibrary.org/obo/HP_0006799							
HP:0006801	biolink:PhenotypicFeature	Hyperactive deep tendon reflexes		UMLS:C1846176	hp.json		http://purl.obolibrary.org/obo/HP_0006801							
HP:0006802	biolink:PhenotypicFeature	Abnormal anterior horn cell morphology	Any anomaly of the anterior horn cell.	MSH:D016472|SNOMEDCT_US:85672005|UMLS:C0154681|UMLS:C4020812	hp.json	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							
HP:0006803	biolink:PhenotypicFeature	Vivid hallucinations		UMLS:C4024978	hp.json		http://purl.obolibrary.org/obo/HP_0006803							
HP:0006808	biolink:PhenotypicFeature	Cerebral hypomyelination	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.	UMLS:C2677328	hp.json	Hypomyelination of the brain	http://purl.obolibrary.org/obo/HP_0006808							
HP:0006812	biolink:PhenotypicFeature	White mater abnormalities in the posterior periventricular region		UMLS:C1836525	hp.json		http://purl.obolibrary.org/obo/HP_0006812							
HP:0006813	biolink:PhenotypicFeature	Focal hemiclonic seizure	A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.	UMLS:C1846620	hp.json	Hemiclonic seizures|Unilateral clonic seizures|Hemiclonic seizure|Unilateral clonic seizure	http://purl.obolibrary.org/obo/HP_0006813							
HP:0006817	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebellar vermis	Absence or underdevelopment of the vermis of cerebellum.	UMLS:C1855676|UMLS:C3280770	hp.json	Cerebellar vermis aplasia/hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia or hypoplasia	http://purl.obolibrary.org/obo/HP_0006817							
HP:0006818	biolink:PhenotypicFeature	4-layered lissencephaly	A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.	MSH:D054221|SNOMEDCT_US:253147000|UMLS:C0431375	hp.json	Classic lissencephaly|Four-layered lissencephaly|Lissencephaly, type I|Type 1 lissencephaly|Type I lissencephaly	http://purl.obolibrary.org/obo/HP_0006818							
HP:0006821	biolink:PhenotypicFeature	Frontal polymicrogyria	A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.	UMLS:C1847356	hp.json	Polymicrogyria, anterior to posterior gradient	http://purl.obolibrary.org/obo/HP_0006821							
HP:0006824	biolink:PhenotypicFeature	Cranial nerve paralysis		MSH:D003389|SNOMEDCT_US:73013002|UMLS:C0151311|UMLS:C4025709	hp.json	Cranial nerve palsies|Cranial nerve palsy|Cranial nerve paresis	http://purl.obolibrary.org/obo/HP_0006824							
HP:0006825	biolink:PhenotypicFeature	Pallor of dorsal columns of the spinal cord		UMLS:C1865416	hp.json		http://purl.obolibrary.org/obo/HP_0006825							
HP:0006827	biolink:PhenotypicFeature	Atrophy of the spinal cord		UMLS:C1389102	hp.json	Degeneration of the spinal cord	http://purl.obolibrary.org/obo/HP_0006827							
HP:0006829	biolink:PhenotypicFeature	Severe muscular hypotonia	A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.	UMLS:C1839630	hp.json	Severely decreased muscle tone|Hypotonia, severe	http://purl.obolibrary.org/obo/HP_0006829							
HP:0006830	biolink:PhenotypicFeature	obsolete Severe neonatal hypotonia in males			hp.json		http://purl.obolibrary.org/obo/HP_0006830							
HP:0006834	biolink:PhenotypicFeature	Developmental stagnation at onset of seizures	A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.	UMLS:C1836829	hp.json		http://purl.obolibrary.org/obo/HP_0006834							
HP:0006837	biolink:PhenotypicFeature	Congenital Horner syndrome	A type of Horner syndrome with congenital onset.	MSH:C564178|UMLS:C1840475	hp.json		http://purl.obolibrary.org/obo/HP_0006837							
HP:0006844	biolink:PhenotypicFeature	Absent patellar reflexes	Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.	SNOMEDCT_US:274817009|UMLS:C0558844	hp.json	Absent knee jerk reflex	http://purl.obolibrary.org/obo/HP_0006844							
HP:0006846	biolink:PhenotypicFeature	Acute encephalopathy		SNOMEDCT_US:2776000|UMLS:C1306587	hp.json		http://purl.obolibrary.org/obo/HP_0006846							
HP:0006849	biolink:PhenotypicFeature	Hypodysplasia of the corpus callosum		UMLS:C1850348	hp.json		http://purl.obolibrary.org/obo/HP_0006849							
HP:0006850	biolink:PhenotypicFeature	Hypoplasia of the ventral pons	Underdevelopment of the ventral portion of the pons.	UMLS:C1843507	hp.json	Underdeveloped ventral pons	http://purl.obolibrary.org/obo/HP_0006850							
HP:0006851	biolink:PhenotypicFeature	Symmetric spinal nerve root neurofibromas	Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.	UMLS:C1834236	hp.json	Spinal nerve root neurofibromas, symmetric, multiple	http://purl.obolibrary.org/obo/HP_0006851							
HP:0006852	biolink:PhenotypicFeature	Episodic generalized hypotonia	The occurrence of repeated episodes of generalized muscular hypotonia.	UMLS:C4024976	hp.json	Episodic generalised hypotonia	http://purl.obolibrary.org/obo/HP_0006852							
HP:0006855	biolink:PhenotypicFeature	Cerebellar vermis atrophy	Wasting (atrophy) of the vermis of cerebellum.	UMLS:C0742028	hp.json	Atrophy of cerebellar vermis|Atrophy of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0006855							
HP:0006858	biolink:PhenotypicFeature	Impaired distal proprioception	A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.	UMLS:C4021585	hp.json	Distal sensory loss of proprioception	http://purl.obolibrary.org/obo/HP_0006858							
HP:0006859	biolink:PhenotypicFeature	Posterior leukoencephalopathy		UMLS:C4024975	hp.json		http://purl.obolibrary.org/obo/HP_0006859							
HP:0006863	biolink:PhenotypicFeature	Severe expressive language delay	A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	SNOMEDCT_US:62221000119105|UMLS:C1851085	hp.json		http://purl.obolibrary.org/obo/HP_0006863							
HP:0006865	biolink:PhenotypicFeature	Sensorimotor polyneuropathy affecting arms more than legs		UMLS:C4024974	hp.json		http://purl.obolibrary.org/obo/HP_0006865							
HP:0006866	biolink:PhenotypicFeature	Midline central nervous system lipomas		UMLS:C4024973	hp.json	Midline CNS lipomas	http://purl.obolibrary.org/obo/HP_0006866							
HP:0006870	biolink:PhenotypicFeature	Lobar holoprosencephaly	A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.	MSH:D016142|SNOMEDCT_US:253136007|UMLS:C0431362	hp.json		http://purl.obolibrary.org/obo/HP_0006870							
HP:0006872	biolink:PhenotypicFeature	Cerebral hypoplasia	Underdevelopment of the cerebrum.	UMLS:C1855330	hp.json	Small cerebrum|Underdeveloped cerebrum	http://purl.obolibrary.org/obo/HP_0006872							
HP:0006873	biolink:PhenotypicFeature	Symmetrical progressive peripheral demyelination	A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	UMLS:C4024972	hp.json		http://purl.obolibrary.org/obo/HP_0006873							
HP:0006877	biolink:PhenotypicFeature	obsolete Mental retardation, in some			hp.json		http://purl.obolibrary.org/obo/HP_0006877							
HP:0006879	biolink:PhenotypicFeature	Pontocerebellar atrophy	Atrophy affecting the pons and the cerebellum.	UMLS:C1853766	hp.json	Cerebellopontine atrophy	http://purl.obolibrary.org/obo/HP_0006879							
HP:0006880	biolink:PhenotypicFeature	Cerebellar hemangioblastoma	A hemangioblastoma of the cerebellum.	NCIT:C3801|UMLS:C1332900	hp.json	Hemangioblastoma, sporadic cerebellar	http://purl.obolibrary.org/obo/HP_0006880							
HP:0006881	biolink:PhenotypicFeature	Diffuse peripheral demyelination	A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	UMLS:C4024971	hp.json		http://purl.obolibrary.org/obo/HP_0006881							
HP:0006882	biolink:PhenotypicFeature	Severe hydrocephalus		UMLS:C3278123	hp.json		http://purl.obolibrary.org/obo/HP_0006882							
HP:0006886	biolink:PhenotypicFeature	Impaired distal vibration sensation	A decrease in the ability to perceive vibration in the distal portions of the limbs.	UMLS:C1853767	hp.json	Decreased distal vibration sense	http://purl.obolibrary.org/obo/HP_0006886							
HP:0006887	biolink:PhenotypicFeature	Intellectual disability, progressive	The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.	UMLS:C1846149	hp.json	Intellectual disability, progressive|Mental retardation, progressive|Progressive mental retardation	http://purl.obolibrary.org/obo/HP_0006887							
HP:0006888	biolink:PhenotypicFeature	Meningoencephalocele		SNOMEDCT_US:52330001|UMLS:C0266456	hp.json		http://purl.obolibrary.org/obo/HP_0006888							
HP:0006889	biolink:PhenotypicFeature	Intellectual disability, borderline	Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.	SNOMEDCT_US:77287004|UMLS:C0006009	hp.json	Intellectual disability, borderline|Mental retardation, borderline	http://purl.obolibrary.org/obo/HP_0006889							
HP:0006891	biolink:PhenotypicFeature	Thick cerebral cortex		UMLS:C4024970	hp.json		http://purl.obolibrary.org/obo/HP_0006891							
HP:0006892	biolink:PhenotypicFeature	Frontotemporal cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.	UMLS:C4021584	hp.json	Cerebral atrophy, frontotemporal	http://purl.obolibrary.org/obo/HP_0006892							
HP:0006893	biolink:PhenotypicFeature	obsolete Severely dysplastic cerebellum			hp.json		http://purl.obolibrary.org/obo/HP_0006893							
HP:0006894	biolink:PhenotypicFeature	Hypoplastic olfactory lobes		UMLS:C1859231	hp.json		http://purl.obolibrary.org/obo/HP_0006894							
HP:0006895	biolink:PhenotypicFeature	Lower limb hypertonia		UMLS:C1845245	hp.json		http://purl.obolibrary.org/obo/HP_0006895							
HP:0006896	biolink:PhenotypicFeature	Hypnopompic hallucinations	Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.	MSH:D006212|SNOMEDCT_US:69690008|UMLS:C0424082	hp.json		http://purl.obolibrary.org/obo/HP_0006896							
HP:0006897	biolink:PhenotypicFeature	Abducens palsy	Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.	MSH:C564661|MSH:D020434|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|SNOMEDCT_US:398963001|UMLS:C0271355	hp.json	Abducens nerve palsy|Abducens nerve paralysis|Abducens nerve paresis|Cranial nerve VI palsy|Lateral rectus muscle denervation paresis|Sixth nerve palsy	http://purl.obolibrary.org/obo/HP_0006897							
HP:0006899	biolink:PhenotypicFeature	Fusion of the cerebellar hemispheres		UMLS:C1866131	hp.json		http://purl.obolibrary.org/obo/HP_0006899							
HP:0006901	biolink:PhenotypicFeature	obsolete Impaired thermal sensitivity			hp.json		http://purl.obolibrary.org/obo/HP_0006901							
HP:0006903	biolink:PhenotypicFeature	Congenital peripheral neuropathy		UMLS:C4024967	hp.json		http://purl.obolibrary.org/obo/HP_0006903							
HP:0006904	biolink:PhenotypicFeature	Late-onset spinocerebellar degeneration		UMLS:C1856604	hp.json		http://purl.obolibrary.org/obo/HP_0006904							
HP:0006906	biolink:PhenotypicFeature	Congenital intracerebral calcification	The presence of calcium deposition within brain structures that is present already at the time of birth.	UMLS:C4024966	hp.json		http://purl.obolibrary.org/obo/HP_0006906							
HP:0006913	biolink:PhenotypicFeature	Frontal cortical atrophy	Atrophy of the frontal cortex.	UMLS:C4024965	hp.json	Frontal cortex degeneration	http://purl.obolibrary.org/obo/HP_0006913							
HP:0006915	biolink:PhenotypicFeature	Inability to walk by childhood/adolescence		UMLS:C1859200	hp.json	Inability to walk by childhood/adolescence	http://purl.obolibrary.org/obo/HP_0006915							
HP:0006916	biolink:PhenotypicFeature	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.	UMLS:C1832339|UMLS:C4024964	hp.json	Intraaxonal accumulation of curvilinear profiles	http://purl.obolibrary.org/obo/HP_0006916							
HP:0006918	biolink:PhenotypicFeature	Diffuse cerebral sclerosis		MSH:D002549|SNOMEDCT_US:49692006|UMLS:C0007795	hp.json		http://purl.obolibrary.org/obo/HP_0006918							
HP:0006919	biolink:PhenotypicFeature	Abnormal aggressive, impulsive or violent behavior		UMLS:C4024963	hp.json	Aggressive/violent behavior|Aggressive/violent behaviour|Abnormal aggressive, impulsive or violent behaviour	http://purl.obolibrary.org/obo/HP_0006919							
HP:0006921	biolink:PhenotypicFeature	Axial muscle stiffness	Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.	UMLS:C4024962	hp.json		http://purl.obolibrary.org/obo/HP_0006921							
HP:0006926	biolink:PhenotypicFeature	Metachromatic leukodystrophy variant		UMLS:C4024961	hp.json		http://purl.obolibrary.org/obo/HP_0006926							
HP:0006927	biolink:PhenotypicFeature	Unilateral polymicrogyria	Excessive number of small gyri (convolutions) on the surface of one side of the brain.	SNOMEDCT_US:715905006|UMLS:C4024960	hp.json		http://purl.obolibrary.org/obo/HP_0006927							
HP:0006929	biolink:PhenotypicFeature	Hypoglycemic encephalopathy	Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.	SNOMEDCT_US:64624009|UMLS:C0149877	hp.json		http://purl.obolibrary.org/obo/HP_0006929							
HP:0006930	biolink:PhenotypicFeature	Frontoparietal cortical dysplasia	The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.	UMLS:C4024959	hp.json		http://purl.obolibrary.org/obo/HP_0006930							
HP:0006931	biolink:PhenotypicFeature	Lipoma of corpus callosum		UMLS:C1333160	hp.json		http://purl.obolibrary.org/obo/HP_0006931							
HP:0006932	biolink:PhenotypicFeature	Transient psychotic episodes		UMLS:C4024958	hp.json		http://purl.obolibrary.org/obo/HP_0006932							
HP:0006934	biolink:PhenotypicFeature	Congenital nystagmus	Nystagmus dating from or present at birth.	MSH:D020417|SNOMEDCT_US:64635004|UMLS:C0700501	hp.json	Nystagmus, congenital	http://purl.obolibrary.org/obo/HP_0006934							
HP:0006937	biolink:PhenotypicFeature	Impaired distal tactile sensation	A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.	UMLS:C4021583	hp.json	Decreased touch sensation in extremities|Decreased distal touch sense	http://purl.obolibrary.org/obo/HP_0006937							
HP:0006938	biolink:PhenotypicFeature	Impaired vibration sensation at ankles	A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.	UMLS:C1854372	hp.json	Decreased vibration sense at ankles|Decreased vibration sense in feet|Impaired vibration sensation at ankles	http://purl.obolibrary.org/obo/HP_0006938							
HP:0006943	biolink:PhenotypicFeature	Diffuse spongiform leukoencephalopathy		UMLS:C1858857	hp.json		http://purl.obolibrary.org/obo/HP_0006943							
HP:0006944	biolink:PhenotypicFeature	Abolished vibration sense	A complete loss of the ability to perceive vibration.	UMLS:C1837520	hp.json	Apallesthesia	http://purl.obolibrary.org/obo/HP_0006944							
HP:0006946	biolink:PhenotypicFeature	Recurrent meningitis	An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.	UMLS:C0746495	hp.json		http://purl.obolibrary.org/obo/HP_0006946							
HP:0006949	biolink:PhenotypicFeature	Episodic peripheral neuropathy		UMLS:C1848695	hp.json		http://purl.obolibrary.org/obo/HP_0006949							
HP:0006951	biolink:PhenotypicFeature	Retrocerebellar cyst		UMLS:C1845370	hp.json		http://purl.obolibrary.org/obo/HP_0006951							
HP:0006955	biolink:PhenotypicFeature	Olivopontocerebellar hypoplasia	Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.	UMLS:C1859341	hp.json		http://purl.obolibrary.org/obo/HP_0006955							
HP:0006956	biolink:PhenotypicFeature	Dilation of lateral ventricles		UMLS:C1856409	hp.json	Dilatation of lateral cerebral ventricles|Enlarged lateral ventricles|Lateral ventricle dilatation	http://purl.obolibrary.org/obo/HP_0006956							
HP:0006957	biolink:PhenotypicFeature	Loss of ability to walk		UMLS:C1849097	hp.json	Loss of ability to walk	http://purl.obolibrary.org/obo/HP_0006957							
HP:0006958	biolink:PhenotypicFeature	Abnormal auditory evoked potentials	An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.	SNOMEDCT_US:102971006|UMLS:C0522216	hp.json	Abnormal brainstem auditory-evoked potentials	http://purl.obolibrary.org/obo/HP_0006958							
HP:0006959	biolink:PhenotypicFeature	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	UMLS:C4024957	hp.json		http://purl.obolibrary.org/obo/HP_0006959							
HP:0006960	biolink:PhenotypicFeature	Choroid plexus calcification	The presence of calcium deposition in the choroid plexus.	UMLS:C1863184	hp.json	Calcified choroid plexus	http://purl.obolibrary.org/obo/HP_0006960							
HP:0006961	biolink:PhenotypicFeature	Jerky head movements		UMLS:C1855568	hp.json	Head jerking|Jerking head movements	http://purl.obolibrary.org/obo/HP_0006961							
HP:0006962	biolink:PhenotypicFeature	Gait instability, worse in the dark		UMLS:C1837016	hp.json	Unstable walking, worse in the dark	http://purl.obolibrary.org/obo/HP_0006962							
HP:0006964	biolink:PhenotypicFeature	Cerebral cortical neurodegeneration		UMLS:C1859863	hp.json		http://purl.obolibrary.org/obo/HP_0006964							
HP:0006965	biolink:PhenotypicFeature	Acute necrotizing encephalopathy		UMLS:C1855020	hp.json		http://purl.obolibrary.org/obo/HP_0006965							
HP:0006970	biolink:PhenotypicFeature	Periventricular leukomalacia		MSH:D007969|SNOMEDCT_US:230769007|UMLS:C0023529	hp.json		http://purl.obolibrary.org/obo/HP_0006970							
HP:0006976	biolink:PhenotypicFeature	Necrotizing encephalopathy	A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.	UMLS:C1396481	hp.json		http://purl.obolibrary.org/obo/HP_0006976							
HP:0006977	biolink:PhenotypicFeature	Grammar-specific speech disorder		UMLS:C4024956	hp.json	Grammar-specific speech disorder	http://purl.obolibrary.org/obo/HP_0006977							
HP:0006978	biolink:PhenotypicFeature	Dysmyelinating leukodystrophy		UMLS:C3278204	hp.json		http://purl.obolibrary.org/obo/HP_0006978							
HP:0006979	biolink:PhenotypicFeature	Sleep-wake cycle disturbance	Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake.	UMLS:C1833362	hp.json	Sleep-wake cycle disturbance	http://purl.obolibrary.org/obo/HP_0006979							
HP:0006980	biolink:PhenotypicFeature	Progressive leukoencephalopathy	Leukoencephalopathy that gets more severe with time.	UMLS:C1855010	hp.json	Leukoencephalopathy, progressive	http://purl.obolibrary.org/obo/HP_0006980							
HP:0006983	biolink:PhenotypicFeature	Slowly progressive spastic quadriparesis		UMLS:C4024955	hp.json		http://purl.obolibrary.org/obo/HP_0006983							
HP:0006984	biolink:PhenotypicFeature	Distal sensory loss of all modalities		UMLS:C1836527	hp.json		http://purl.obolibrary.org/obo/HP_0006984							
HP:0006986	biolink:PhenotypicFeature	Upper limb spasticity		SNOMEDCT_US:394680009|UMLS:C1273957	hp.json	Uncontrollable movement in upper arms	http://purl.obolibrary.org/obo/HP_0006986							
HP:0006988	biolink:PhenotypicFeature	Alobar holoprosencephaly	A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.	MSH:D016142|SNOMEDCT_US:253137003|UMLS:C0431363	hp.json		http://purl.obolibrary.org/obo/HP_0006988							
HP:0006989	biolink:PhenotypicFeature	Dysplastic corpus callosum	Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.	UMLS:C0431369	hp.json	Dysgenesis of corpus callosum|Dysplasia of corpus callosum	http://purl.obolibrary.org/obo/HP_0006989							
HP:0006990	biolink:PhenotypicFeature	Myelin-dependent gliosis	A type of gliosis that occurs in the vicinity of injured neurons.	UMLS:C4024954	hp.json		http://purl.obolibrary.org/obo/HP_0006990							
HP:0006992	biolink:PhenotypicFeature	Anterior basal encephalocele		UMLS:C1850961	hp.json		http://purl.obolibrary.org/obo/HP_0006992							
HP:0006994	biolink:PhenotypicFeature	Diffuse leukoencephalopathy		UMLS:C1868514	hp.json		http://purl.obolibrary.org/obo/HP_0006994							
HP:0006999	biolink:PhenotypicFeature	Basal ganglia gliosis	Focal proliferation of glial cells in the basal ganglia.	UMLS:C1864114|UMLS:C2750915	hp.json	Gliosis in the basal ganglia	http://purl.obolibrary.org/obo/HP_0006999							
HP:0007000	biolink:PhenotypicFeature	Morning myoclonic jerks		UMLS:C1847164	hp.json		http://purl.obolibrary.org/obo/HP_0007000							
HP:0007001	biolink:PhenotypicFeature	Loss of Purkinje cells in the cerebellar vermis		UMLS:C1849146	hp.json		http://purl.obolibrary.org/obo/HP_0007001							
HP:0007002	biolink:PhenotypicFeature	Motor axonal neuropathy	Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.	UMLS:C1854570|UMLS:C2749625|UMLS:C4020811	hp.json	Distal motor neuropathy|Length dependent motor neuropathy	http://purl.obolibrary.org/obo/HP_0007002							
HP:0007006	biolink:PhenotypicFeature	Dorsal column degeneration		UMLS:C4024953	hp.json		http://purl.obolibrary.org/obo/HP_0007006							
HP:0007007	biolink:PhenotypicFeature	Cavitation of the basal ganglia	The formation of small cavities in the tissue of the basal ganglia.	UMLS:C4024952	hp.json		http://purl.obolibrary.org/obo/HP_0007007							
HP:0007009	biolink:PhenotypicFeature	Central nervous system degeneration		UMLS:C3277687	hp.json	CNS degeneration	http://purl.obolibrary.org/obo/HP_0007009							
HP:0007010	biolink:PhenotypicFeature	Poor fine motor coordination	An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.	UMLS:C1867864	hp.json	Fine motor disability|Fine motor impairment|Fine motor skill dysfunction|Impaired fine motor skills	http://purl.obolibrary.org/obo/HP_0007010							
HP:0007011	biolink:PhenotypicFeature	Fourth cranial nerve palsy	Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.	MSH:D020432|SNOMEDCT_US:20610004|UMLS:C0271375	hp.json	Trochlear nerve palsy	http://purl.obolibrary.org/obo/HP_0007011							
HP:0007015	biolink:PhenotypicFeature	Poor gross motor coordination	An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.	UMLS:C1867863	hp.json	Gross motor impairment	http://purl.obolibrary.org/obo/HP_0007015							
HP:0007016	biolink:PhenotypicFeature	Corticospinal tract hypoplasia		UMLS:C1844007	hp.json		http://purl.obolibrary.org/obo/HP_0007016							
HP:0007017	biolink:PhenotypicFeature	Progressive forgetfulness		UMLS:C3277688	hp.json	Forgetfullness	http://purl.obolibrary.org/obo/HP_0007017							
HP:0007018	biolink:PhenotypicFeature	Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.	MSH:D001289|SNOMEDCT_US:406506008|SNOMEDCT_US:7461003|UMLS:C1263846	hp.json	Attention deficit|Attention deficit disorder|Attention deficit-hyperactivity disorder|Attention deficits|Childhood attention deficit/hyperactivity disorder	http://purl.obolibrary.org/obo/HP_0007018							
HP:0007020	biolink:PhenotypicFeature	Progressive spastic paraplegia		UMLS:C1855483	hp.json		http://purl.obolibrary.org/obo/HP_0007020							
HP:0007021	biolink:PhenotypicFeature	Pain insensitivity	Inability to perceive painful stimuli.	SNOMEDCT_US:38433004|UMLS:C0344307	hp.json	Absence of pain sensation	http://purl.obolibrary.org/obo/HP_0007021							
HP:0007023	biolink:PhenotypicFeature	Antenatal intracerebral hemorrhage	Cerebral hemorrhage that occurs before birth.	UMLS:C1837247	hp.json	Antenatal intracerebral haemorrhage	http://purl.obolibrary.org/obo/HP_0007023							
HP:0007024	biolink:PhenotypicFeature	Pseudobulbar paralysis	Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.	MSH:D020828|SNOMEDCT_US:7379000|UMLS:C0033790	hp.json	Pseudobulbar palsy|Pseudobulbar syndrome	http://purl.obolibrary.org/obo/HP_0007024							
HP:0007027	biolink:PhenotypicFeature	Poorly formed metencephalon	A morphological abnormality of the metencephalon.	UMLS:C4024951	hp.json		http://purl.obolibrary.org/obo/HP_0007027							
HP:0007029	biolink:PhenotypicFeature	Cerebral berry aneurysm	A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.	MSH:D000783|SNOMEDCT_US:54002007|UMLS:C2713497	hp.json	Cerebral saccular aneurysm	http://purl.obolibrary.org/obo/HP_0007029							
HP:0007030	biolink:PhenotypicFeature	Nonprogressive encephalopathy		UMLS:C4024950	hp.json		http://purl.obolibrary.org/obo/HP_0007030							
HP:0007033	biolink:PhenotypicFeature	Cerebellar dysplasia	Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.	UMLS:C3278322	hp.json		http://purl.obolibrary.org/obo/HP_0007033							
HP:0007034	biolink:PhenotypicFeature	Generalized hyperreflexia		UMLS:C4024949	hp.json	Generalised hyperreflexia	http://purl.obolibrary.org/obo/HP_0007034							
HP:0007035	biolink:PhenotypicFeature	Anterior encephalocele		UMLS:C4024948	hp.json		http://purl.obolibrary.org/obo/HP_0007035							
HP:0007036	biolink:PhenotypicFeature	Hypoplasia of olfactory tract		UMLS:C1856655	hp.json	Underdeveloped olfactory tract	http://purl.obolibrary.org/obo/HP_0007036							
HP:0007039	biolink:PhenotypicFeature	Symmetric lesions of the basal ganglia		UMLS:C4024947	hp.json		http://purl.obolibrary.org/obo/HP_0007039							
HP:0007041	biolink:PhenotypicFeature	Chronic lymphocytic meningitis	Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).	SNOMEDCT_US:230154004|UMLS:C0393441	hp.json		http://purl.obolibrary.org/obo/HP_0007041							
HP:0007042	biolink:PhenotypicFeature	Focal white matter lesions		UMLS:C4024946	hp.json		http://purl.obolibrary.org/obo/HP_0007042							
HP:0007045	biolink:PhenotypicFeature	Midline brain calcifications		UMLS:C1855487	hp.json		http://purl.obolibrary.org/obo/HP_0007045							
HP:0007047	biolink:PhenotypicFeature	Atrophy of the dentate nucleus	Partial or complete wasting (loss) of dentate nucleus.	UMLS:C1857788	hp.json		http://purl.obolibrary.org/obo/HP_0007047							
HP:0007048	biolink:PhenotypicFeature	Large basal ganglia	Increased size of the basal ganglia.	UMLS:C1859470	hp.json		http://purl.obolibrary.org/obo/HP_0007048							
HP:0007052	biolink:PhenotypicFeature	Multifocal cerebral white matter abnormalities		UMLS:C1833434	hp.json		http://purl.obolibrary.org/obo/HP_0007052							
HP:0007054	biolink:PhenotypicFeature	Hyperreflexia proximally		UMLS:C1836012	hp.json		http://purl.obolibrary.org/obo/HP_0007054							
HP:0007057	biolink:PhenotypicFeature	Poor hand-eye coordination		UMLS:C1845864	hp.json		http://purl.obolibrary.org/obo/HP_0007057							
HP:0007058	biolink:PhenotypicFeature	Generalized cerebral atrophy/hypoplasia	Generalized atrophy or hypoplasia of the cerebrum.	UMLS:C4024945	hp.json	Generalized cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia|Generalised cerebral degeneration/underdevelopment	http://purl.obolibrary.org/obo/HP_0007058							
HP:0007063	biolink:PhenotypicFeature	Aplasia of the inferior half of the cerebellar vermis		UMLS:C1857787	hp.json	Absent inferior half of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0007063							
HP:0007064	biolink:PhenotypicFeature	Progressive language deterioration	Progressive loss of previously present language abilities.	UMLS:C1843793	hp.json		http://purl.obolibrary.org/obo/HP_0007064							
HP:0007065	biolink:PhenotypicFeature	Disorganization of the anterior cerebellar vermis		UMLS:C1845369	hp.json	Disorganisation of the anterior cerebellar vermis	http://purl.obolibrary.org/obo/HP_0007065							
HP:0007066	biolink:PhenotypicFeature	Proximal limb muscle stiffness		UMLS:C1861460	hp.json		http://purl.obolibrary.org/obo/HP_0007066							
HP:0007067	biolink:PhenotypicFeature	Distal peripheral sensory neuropathy	Peripheral sensory neuropathy affecting primarily distal sensation.	UMLS:C4021582	hp.json	Peripheral sensory neuropathy, distal	http://purl.obolibrary.org/obo/HP_0007067							
HP:0007068	biolink:PhenotypicFeature	Inferior vermis hypoplasia	Underdevelopment of the inferior portion of the vermis of cerebellum.	UMLS:C1855350	hp.json	Hypoplasia of inferior vermis	http://purl.obolibrary.org/obo/HP_0007068							
HP:0007069	biolink:PhenotypicFeature	Profound static encephalopathy		UMLS:C4024944	hp.json		http://purl.obolibrary.org/obo/HP_0007069							
HP:0007074	biolink:PhenotypicFeature	Thick corpus callosum	Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.	UMLS:C1835194	hp.json	Abnormal size of corpus callosum|Large corpus callosum	http://purl.obolibrary.org/obo/HP_0007074							
HP:0007076	biolink:PhenotypicFeature	Extrapyramidal muscular rigidity	Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).	UMLS:C1852470	hp.json		http://purl.obolibrary.org/obo/HP_0007076							
HP:0007078	biolink:PhenotypicFeature	Decreased amplitude of sensory action potentials	A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.	UMLS:C4024943	hp.json		http://purl.obolibrary.org/obo/HP_0007078							
HP:0007081	biolink:PhenotypicFeature	Late-onset muscular dystrophy		UMLS:C4024942	hp.json		http://purl.obolibrary.org/obo/HP_0007081							
HP:0007082	biolink:PhenotypicFeature	Dilated third ventricle	An increase in size of the third ventricle.	UMLS:C4024941	hp.json		http://purl.obolibrary.org/obo/HP_0007082							
HP:0007083	biolink:PhenotypicFeature	Hyperactive patellar reflex		UMLS:C0240116	hp.json	Overactive knee reflex|Brisk knee jerk|Hyperreflexia in knees	http://purl.obolibrary.org/obo/HP_0007083							
HP:0007086	biolink:PhenotypicFeature	Social and occupational deterioration		UMLS:C1866986	hp.json		http://purl.obolibrary.org/obo/HP_0007086							
HP:0007087	biolink:PhenotypicFeature	obsolete Involuntary jerking movements			hp.json		http://purl.obolibrary.org/obo/HP_0007087							
HP:0007089	biolink:PhenotypicFeature	Facial-lingual fasciculations	Fasciculations affecting the tongue muscle and the musculature of the face.	UMLS:C1862359	hp.json		http://purl.obolibrary.org/obo/HP_0007089							
HP:0007095	biolink:PhenotypicFeature	obsolete Frontoparietal polymicrogyria			hp.json		http://purl.obolibrary.org/obo/HP_0007095							
HP:0007096	biolink:PhenotypicFeature	Hypoplasia of the optic tract		UMLS:C1856654	hp.json	Underdeveloped optic tract	http://purl.obolibrary.org/obo/HP_0007096							
HP:0007097	biolink:PhenotypicFeature	Cranial nerve motor loss		UMLS:C4024940	hp.json		http://purl.obolibrary.org/obo/HP_0007097							
HP:0007098	biolink:PhenotypicFeature	Paroxysmal choreoathetosis	Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.	SNOMEDCT_US:49949003|UMLS:C1851936	hp.json	Choreoathetosis, episodic|Choreoathetosis, intermittent	http://purl.obolibrary.org/obo/HP_0007098							
HP:0007099	biolink:PhenotypicFeature	Arnold-Chiari type I malformation	Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle.	MSH:D001139|SNOMEDCT_US:253185002|UMLS:C0750929	hp.json	Arnold Chiari type I malformation|Chiari I malformation	http://purl.obolibrary.org/obo/HP_0007099							
HP:0007100	biolink:PhenotypicFeature	Progressive ventriculomegaly		UMLS:C1865119	hp.json		http://purl.obolibrary.org/obo/HP_0007100							
HP:0007103	biolink:PhenotypicFeature	Hypointensity of cerebral white matter on MRI	A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.	UMLS:C4020908	hp.json	White matter hypointensities on MRI	http://purl.obolibrary.org/obo/HP_0007103							
HP:0007104	biolink:PhenotypicFeature	Prolonged somatosensory evoked potentials		UMLS:C4024939	hp.json		http://purl.obolibrary.org/obo/HP_0007104							
HP:0007105	biolink:PhenotypicFeature	Infantile encephalopathy	Encephalopathy with onset in the infantile period.	UMLS:C1856408	hp.json		http://purl.obolibrary.org/obo/HP_0007105							
HP:0007107	biolink:PhenotypicFeature	Segmental peripheral demyelination	A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.	UMLS:C4024938	hp.json		http://purl.obolibrary.org/obo/HP_0007107							
HP:0007108	biolink:PhenotypicFeature	Demyelinating peripheral neuropathy	Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.	SNOMEDCT_US:23414001|UMLS:C0270922	hp.json		http://purl.obolibrary.org/obo/HP_0007108							
HP:0007109	biolink:PhenotypicFeature	Periventricular cysts		UMLS:C1839858	hp.json		http://purl.obolibrary.org/obo/HP_0007109							
HP:0007110	biolink:PhenotypicFeature	Central hypoventilation		UMLS:C3805839	hp.json		http://purl.obolibrary.org/obo/HP_0007110							
HP:0007111	biolink:PhenotypicFeature	Chronic hepatic encephalopathy		UMLS:C4024937	hp.json		http://purl.obolibrary.org/obo/HP_0007111							
HP:0007112	biolink:PhenotypicFeature	Temporal cortical atrophy	Atrophy of the temporal cortex.	UMLS:C4024936	hp.json		http://purl.obolibrary.org/obo/HP_0007112							
HP:0007115	biolink:PhenotypicFeature	Orbital encephalocele		SNOMEDCT_US:15671007|UMLS:C0271330	hp.json		http://purl.obolibrary.org/obo/HP_0007115							
HP:0007117	biolink:PhenotypicFeature	Corticospinal tract atrophy		UMLS:C1838868	hp.json		http://purl.obolibrary.org/obo/HP_0007117							
HP:0007123	biolink:PhenotypicFeature	Subcortical dementia	A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.	UMLS:C4024935	hp.json		http://purl.obolibrary.org/obo/HP_0007123							
HP:0007126	biolink:PhenotypicFeature	Proximal amyotrophy	Amyotrophy (muscular atrophy) affecting the proximal musculature.	UMLS:C1850794	hp.json	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							
HP:0007129	biolink:PhenotypicFeature	Cerebellar medulloblastoma		UMLS:C4024934	hp.json		http://purl.obolibrary.org/obo/HP_0007129							
HP:0007131	biolink:PhenotypicFeature	Acute demyelinating polyneuropathy	Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.	UMLS:C4024933	hp.json		http://purl.obolibrary.org/obo/HP_0007131							
HP:0007132	biolink:PhenotypicFeature	Pallidal degeneration	Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.	SNOMEDCT_US:230302004|UMLS:C0393577	hp.json		http://purl.obolibrary.org/obo/HP_0007132							
HP:0007133	biolink:PhenotypicFeature	Progressive peripheral neuropathy		UMLS:C1859178	hp.json	Progressive polyneuropathy	http://purl.obolibrary.org/obo/HP_0007133							
HP:0007141	biolink:PhenotypicFeature	Sensorimotor neuropathy		UMLS:C1112256	hp.json	Nerve damage causing decreased feeling and movement|Mixed polyneuropathy|Sensorimotor peripheral neuropathy	http://purl.obolibrary.org/obo/HP_0007141							
HP:0007146	biolink:PhenotypicFeature	Bilateral basal ganglia lesions		UMLS:C4024932	hp.json		http://purl.obolibrary.org/obo/HP_0007146							
HP:0007149	biolink:PhenotypicFeature	Distal upper limb amyotrophy	Muscular atrophy of distal arm muscles.	UMLS:C4021581	hp.json	Distal upper limb muscle atrophy	http://purl.obolibrary.org/obo/HP_0007149							
HP:0007153	biolink:PhenotypicFeature	Progressive extrapyramidal movement disorder		UMLS:C2748610	hp.json		http://purl.obolibrary.org/obo/HP_0007153							
HP:0007156	biolink:PhenotypicFeature	Asymmetric limb muscle stiffness	Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.	UMLS:C4024931	hp.json		http://purl.obolibrary.org/obo/HP_0007156							
HP:0007158	biolink:PhenotypicFeature	Progressive extrapyramidal muscular rigidity	A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).	UMLS:C4021580	hp.json	Progressive extrapyramidal rigidity	http://purl.obolibrary.org/obo/HP_0007158							
HP:0007159	biolink:PhenotypicFeature	Fluctuations in consciousness		UMLS:C1851959	hp.json		http://purl.obolibrary.org/obo/HP_0007159							
HP:0007162	biolink:PhenotypicFeature	Diffuse demyelination of the cerebral white matter	A diffuse loss of myelin from nerve fibers in the central nervous system.	UMLS:C4024930	hp.json		http://purl.obolibrary.org/obo/HP_0007162							
HP:0007163	biolink:PhenotypicFeature	obsolete Corticospinal tract disease in lower limbs			hp.json		http://purl.obolibrary.org/obo/HP_0007163							
HP:0007164	biolink:PhenotypicFeature	Slowed slurred speech		UMLS:C4024929	hp.json	Slowed slurred speech	http://purl.obolibrary.org/obo/HP_0007164							
HP:0007165	biolink:PhenotypicFeature	Periventricular heterotopia	A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.	UMLS:C1849173	hp.json	Periventricular grey matter heterotopia|Subependymal grey matter heterotopia|Periventricular gray matter heterotopia|Periventricular neuronal heterotopia|Subependymal gray matter heterotopia|Subependymal neuronal heterotopia	http://purl.obolibrary.org/obo/HP_0007165							
HP:0007166	biolink:PhenotypicFeature	Paroxysmal dyskinesia	Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.	MSH:D002819|UMLS:C0752210|UMLS:C1836174	hp.json	Involuntary dystonic or choreiform movements	http://purl.obolibrary.org/obo/HP_0007166							
HP:0007178	biolink:PhenotypicFeature	Motor polyneuropathy		MSH:D009443|MSH:D011115|SNOMEDCT_US:85423005|SNOMEDCT_US:95663000|UMLS:C0235025|UMLS:C0271683	hp.json	Peripheral motor neuropathy	http://purl.obolibrary.org/obo/HP_0007178							
HP:0007179	biolink:PhenotypicFeature	Absent smooth pursuit	A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.	UMLS:C4024928	hp.json		http://purl.obolibrary.org/obo/HP_0007179							
HP:0007181	biolink:PhenotypicFeature	Interosseus muscle atrophy	Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.	UMLS:C1846829	hp.json	Interosseous muscular atrophy	http://purl.obolibrary.org/obo/HP_0007181							
HP:0007182	biolink:PhenotypicFeature	Peripheral hypomyelination	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.	UMLS:C4024927	hp.json		http://purl.obolibrary.org/obo/HP_0007182							
HP:0007183	biolink:PhenotypicFeature	Focal T2 hyperintense basal ganglia lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.	UMLS:C1865351|UMLS:C4024926	hp.json	Hyperintense lesions in the basal ganglia on MRI	http://purl.obolibrary.org/obo/HP_0007183							
HP:0007185	biolink:PhenotypicFeature	Loss of consciousness		MSH:D014474|SNOMEDCT_US:418107008|SNOMEDCT_US:419045004|UMLS:C0041657	hp.json	Loss of consciousness|Passing out	http://purl.obolibrary.org/obo/HP_0007185							
HP:0007187	biolink:PhenotypicFeature	Focal lissencephaly	A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.	UMLS:C1855230	hp.json		http://purl.obolibrary.org/obo/HP_0007187							
HP:0007188	biolink:PhenotypicFeature	Congenital facial diplegia	Facial diplegia (that is, bilateral facial palsy) with congenital onset.	MSH:C531747|UMLS:C0853240	hp.json	Congenital bilateral facial palsy|Congenital bilateral facial weakness	http://purl.obolibrary.org/obo/HP_0007188							
HP:0007190	biolink:PhenotypicFeature	Neuronal loss in the cerebral cortex		UMLS:C1849485	hp.json		http://purl.obolibrary.org/obo/HP_0007190							
HP:0007193	biolink:PhenotypicFeature	Bilateral tonic-clonic seizure on awakening	Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).	UMLS:C1847165	hp.json	Morning generalized tonic-clonic seizures|Generalised tonic-clonic seizures on awakening|Morning generalised tonic-clonic seizures|Generalized tonic-clonic seizures on awakening	http://purl.obolibrary.org/obo/HP_0007193							
HP:0007199	biolink:PhenotypicFeature	Progressive spastic paraparesis		UMLS:C0747251	hp.json		http://purl.obolibrary.org/obo/HP_0007199							
HP:0007200	biolink:PhenotypicFeature	Episodic hypersomnia		UMLS:C4024925	hp.json		http://purl.obolibrary.org/obo/HP_0007200							
HP:0007201	biolink:PhenotypicFeature	Cerebral artery atherosclerosis	Atherosclerosis (HP:0002621) of a cerebral artery.	UMLS:C4024924	hp.json	Plaque build-up in cerebral artery	http://purl.obolibrary.org/obo/HP_0007201							
HP:0007204	biolink:PhenotypicFeature	Diffuse white matter abnormalities		UMLS:C4024923	hp.json		http://purl.obolibrary.org/obo/HP_0007204							
HP:0007206	biolink:PhenotypicFeature	Hemimegalencephaly	Enlargement of all or parts of one cerebral hemisphere.	MSH:D065705|SNOMEDCT_US:253170008|UMLS:C0431391	hp.json		http://purl.obolibrary.org/obo/HP_0007206							
HP:0007207	biolink:PhenotypicFeature	Photosensitive tonic-clonic seizure	Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.	UMLS:C1846131	hp.json	Photosensitive tonic-clonic seizures|Photically induced tonic-clonic seizure|Seizures, tonic-clonic, photosensitive	http://purl.obolibrary.org/obo/HP_0007207							
HP:0007208	biolink:PhenotypicFeature	Irregular myelin loops	Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.	UMLS:C4024922	hp.json		http://purl.obolibrary.org/obo/HP_0007208							
HP:0007209	biolink:PhenotypicFeature	Facial paralysis	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).	MSH:D005158|SNOMEDCT_US:280816001|SNOMEDCT_US:95666008|UMLS:C0015469|UMLS:C0427055	hp.json	Facial paralysis|Facial paresis	http://purl.obolibrary.org/obo/HP_0007209							hposlim_core
HP:0007210	biolink:PhenotypicFeature	Lower limb amyotrophy	Muscular atrophy affecting the lower limb.	UMLS:C4024921	hp.json		http://purl.obolibrary.org/obo/HP_0007210							
HP:0007215	biolink:PhenotypicFeature	Periodic hyperkalemic paralysis	Episodes of muscle weakness associated with elevated levels of potassium in the blood.	MSH:D020513|SNOMEDCT_US:304737009|UMLS:C0238357	hp.json	Hyperkalemic periodic paralysis	http://purl.obolibrary.org/obo/HP_0007215							
HP:0007220	biolink:PhenotypicFeature	Demyelinating motor neuropathy	Demyelination of peripheral motor nerves.	UMLS:C1969462	hp.json		http://purl.obolibrary.org/obo/HP_0007220							
HP:0007221	biolink:PhenotypicFeature	Progressive truncal ataxia		UMLS:C1849143	hp.json		http://purl.obolibrary.org/obo/HP_0007221							
HP:0007227	biolink:PhenotypicFeature	Macrogyria	Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.	MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483	hp.json		http://purl.obolibrary.org/obo/HP_0007227							
HP:0007229	biolink:PhenotypicFeature	Intracerebral periventricular calcifications	The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.	UMLS:C1837246	hp.json		http://purl.obolibrary.org/obo/HP_0007229							
HP:0007230	biolink:PhenotypicFeature	Decreased distal sensory nerve action potential	A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.	UMLS:C4024920	hp.json		http://purl.obolibrary.org/obo/HP_0007230							
HP:0007232	biolink:PhenotypicFeature	Spinocerebellar tract disease in lower limbs		UMLS:C4024919	hp.json		http://purl.obolibrary.org/obo/HP_0007232							
HP:0007233	biolink:PhenotypicFeature	Clusters of axonal regeneration	Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.	UMLS:C1843169	hp.json		http://purl.obolibrary.org/obo/HP_0007233							
HP:0007236	biolink:PhenotypicFeature	Recurrent subcortical infarcts		UMLS:C4024918	hp.json		http://purl.obolibrary.org/obo/HP_0007236							
HP:0007238	biolink:PhenotypicFeature	Nonarteriosclerotic cerebral calcification		UMLS:C4021579	hp.json	Cerebral calcification, nonarteriosclerotic	http://purl.obolibrary.org/obo/HP_0007238							
HP:0007239	biolink:PhenotypicFeature	Congenital encephalopathy		UMLS:C4024917	hp.json		http://purl.obolibrary.org/obo/HP_0007239							
HP:0007240	biolink:PhenotypicFeature	Progressive gait ataxia	A type of gait ataxia displaying progression of clinical severity.	UMLS:C1843885	hp.json	Gait ataxia, progressive	http://purl.obolibrary.org/obo/HP_0007240							
HP:0007249	biolink:PhenotypicFeature	Decreased number of small peripheral myelinated nerve fibers		UMLS:C4024916	hp.json	Decreased number of small peripheral myelinated nerve fibres	http://purl.obolibrary.org/obo/HP_0007249							
HP:0007250	biolink:PhenotypicFeature	Recurrent external ophthalmoplegia	Alternating and recurrent weakness of the external ocular muscles.	UMLS:C4024915	hp.json		http://purl.obolibrary.org/obo/HP_0007250							
HP:0007256	biolink:PhenotypicFeature	Abnormal pyramidal sign	Functional neurological abnormalities related to dysfunction of the pyramidal tract.	SNOMEDCT_US:14648003|UMLS:C0234132	hp.json	Corticospinal signs|Pyramidal signs|Pyramidal tract signs	http://purl.obolibrary.org/obo/HP_0007256							
HP:0007258	biolink:PhenotypicFeature	Severe demyelination of the white matter	A severe loss of myelin from nerve fibers in the central nervous system.	UMLS:C1856001	hp.json		http://purl.obolibrary.org/obo/HP_0007258							
HP:0007260	biolink:PhenotypicFeature	Type II lissencephaly	A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.	MSH:D054222|SNOMEDCT_US:253149002|UMLS:C0431376	hp.json	Cobblestone lissencephaly|Lissencephaly type II|Type 2 lissencephaly	http://purl.obolibrary.org/obo/HP_0007260							
HP:0007262	biolink:PhenotypicFeature	Symmetric peripheral demyelination	A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	UMLS:C4024914	hp.json		http://purl.obolibrary.org/obo/HP_0007262							
HP:0007263	biolink:PhenotypicFeature	Spinocerebellar atrophy	Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.	MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012	hp.json		http://purl.obolibrary.org/obo/HP_0007263							
HP:0007265	biolink:PhenotypicFeature	Absent mesencephalon	Agenesis of the midbrain.	UMLS:C4024913	hp.json		http://purl.obolibrary.org/obo/HP_0007265							
HP:0007266	biolink:PhenotypicFeature	Cerebral dysmyelination	Defective structure and function of myelin sheaths of the white matter of the brain.	UMLS:C1854885|UMLS:C4020810	hp.json	Areas of dysmyelination on MRI|Dysmyelination of the brain|White matter dysmyelination/demyelination	http://purl.obolibrary.org/obo/HP_0007266							
HP:0007267	biolink:PhenotypicFeature	Chronic axonal neuropathy	An abnormality characterized by chronic impairment of the normal functioning of the axons.	UMLS:C4021578	hp.json	Chronic sural axonal neuropathy	http://purl.obolibrary.org/obo/HP_0007267							
HP:0007268	biolink:PhenotypicFeature	Aprosencephaly		MSH:D000757|SNOMEDCT_US:277922001|UMLS:C0431349	hp.json		http://purl.obolibrary.org/obo/HP_0007268							
HP:0007269	biolink:PhenotypicFeature	Spinal muscular atrophy	Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	MSH:D009134|SNOMEDCT_US:5262007|UMLS:C0026847	hp.json	Spinal muscle degeneration|Spinal muscle wasting	http://purl.obolibrary.org/obo/HP_0007269							
HP:0007270	biolink:PhenotypicFeature	Atypical absence seizure	An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.	SNOMEDCT_US:23374007|UMLS:C0595948	hp.json	Atypical absence seizures|Atypical petit mal seizures|Atypical absence	http://purl.obolibrary.org/obo/HP_0007270							
HP:0007271	biolink:PhenotypicFeature	Occipital myelomeningocele		UMLS:C4024912	hp.json		http://purl.obolibrary.org/obo/HP_0007271							
HP:0007272	biolink:PhenotypicFeature	Progressive psychomotor deterioration		UMLS:C1856565	hp.json	Progressive mental and motor deterioration	http://purl.obolibrary.org/obo/HP_0007272							
HP:0007274	biolink:PhenotypicFeature	Recurrent bacterial meningitis	An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.	UMLS:C1845604	hp.json		http://purl.obolibrary.org/obo/HP_0007274							
HP:0007277	biolink:PhenotypicFeature	Paucity of anterior horn motor neurons		UMLS:C2673351	hp.json		http://purl.obolibrary.org/obo/HP_0007277							
HP:0007280	biolink:PhenotypicFeature	Acute infantile spinal muscular atrophy		UMLS:C4024911	hp.json		http://purl.obolibrary.org/obo/HP_0007280							
HP:0007281	biolink:PhenotypicFeature	Developmental stagnation	A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.	UMLS:C1848980	hp.json	Developmental arrest	http://purl.obolibrary.org/obo/HP_0007281							
HP:0007285	biolink:PhenotypicFeature	Facial palsy secondary to cranial hyperostosis	Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.	UMLS:C1849260	hp.json	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							
HP:0007286	biolink:PhenotypicFeature	Horizontal jerk nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.	UMLS:C4024910	hp.json		http://purl.obolibrary.org/obo/HP_0007286							
HP:0007289	biolink:PhenotypicFeature	Limb fasciculations	Fasciculations affecting the musculature of the arms and legs.	UMLS:C1854657	hp.json	Limb fasciculation	http://purl.obolibrary.org/obo/HP_0007289							
HP:0007291	biolink:PhenotypicFeature	Posterior fossa cyst	A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.	UMLS:C1857353	hp.json		http://purl.obolibrary.org/obo/HP_0007291							
HP:0007293	biolink:PhenotypicFeature	Anterior sacral meningocele		UMLS:C1867776	hp.json		http://purl.obolibrary.org/obo/HP_0007293							
HP:0007295	biolink:PhenotypicFeature	Chaotic rapid conjugate ocular movements		UMLS:C4024909	hp.json		http://purl.obolibrary.org/obo/HP_0007295							
HP:0007299	biolink:PhenotypicFeature	Dysfunction of lateral corticospinal tracts		UMLS:C1832671	hp.json		http://purl.obolibrary.org/obo/HP_0007299							
HP:0007301	biolink:PhenotypicFeature	Oromotor apraxia		UMLS:C4021845	hp.json		http://purl.obolibrary.org/obo/HP_0007301							
HP:0007302	biolink:PhenotypicFeature	Bipolar affective disorder		MSH:D001714|SNOMEDCT_US:13746004|UMLS:C0005586	hp.json	Bipolar disorder	http://purl.obolibrary.org/obo/HP_0007302							
HP:0007305	biolink:PhenotypicFeature	CNS demyelination	A loss of myelin from nerve fibers in the central nervous system.	UMLS:C0338474	hp.json	Demyelination in central white matter	http://purl.obolibrary.org/obo/HP_0007305							
HP:0007307	biolink:PhenotypicFeature	Rapid neurologic deterioration		UMLS:C4024908	hp.json		http://purl.obolibrary.org/obo/HP_0007307							
HP:0007308	biolink:PhenotypicFeature	Extrapyramidal dyskinesia		UMLS:C1848528	hp.json		http://purl.obolibrary.org/obo/HP_0007308							
HP:0007311	biolink:PhenotypicFeature	Short stepped shuffling gait		UMLS:C3805715	hp.json	Short stepped shuffling walk	http://purl.obolibrary.org/obo/HP_0007311							
HP:0007313	biolink:PhenotypicFeature	Cerebral degeneration		SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671	hp.json	Neuroaxonal degeneration in the brain	http://purl.obolibrary.org/obo/HP_0007313							
HP:0007314	biolink:PhenotypicFeature	obsolete White matter neuronal heterotopia			hp.json		http://purl.obolibrary.org/obo/HP_0007314							
HP:0007316	biolink:PhenotypicFeature	obsolete Involuntary writhing movements			hp.json		http://purl.obolibrary.org/obo/HP_0007316							
HP:0007321	biolink:PhenotypicFeature	Deep white matter hypodensities	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.	UMLS:C1856979	hp.json	Deep cerebral white matter hypodensities	http://purl.obolibrary.org/obo/HP_0007321							
HP:0007325	biolink:PhenotypicFeature	Generalized dystonia	A type of dystonia that affects all or most of the body.	SNOMEDCT_US:425492002|UMLS:C1848954	hp.json	Generalised dystonia	http://purl.obolibrary.org/obo/HP_0007325							
HP:0007326	biolink:PhenotypicFeature	Progressive choreoathetosis		UMLS:C1860216	hp.json		http://purl.obolibrary.org/obo/HP_0007326							
HP:0007327	biolink:PhenotypicFeature	Mixed demyelinating and axonal polyneuropathy		UMLS:C4024907	hp.json		http://purl.obolibrary.org/obo/HP_0007327							
HP:0007328	biolink:PhenotypicFeature	Impaired pain sensation	Reduced ability to perceive painful stimuli.	UMLS:C1837522	hp.json	Decreased pain sensation|Impaired pain sensation|Decreased pinprick sensation	http://purl.obolibrary.org/obo/HP_0007328							
HP:0007330	biolink:PhenotypicFeature	Frontal encephalocele		MSH:D004677|SNOMEDCT_US:253103006|UMLS:C0431289	hp.json		http://purl.obolibrary.org/obo/HP_0007330							
HP:0007332	biolink:PhenotypicFeature	Focal hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face.	UMLS:C4024906	hp.json	Hemifacial seizures	http://purl.obolibrary.org/obo/HP_0007332							
HP:0007333	biolink:PhenotypicFeature	Hypoplasia of the frontal lobes	Underdevelopment of the frontal lobe of the cerebrum.	UMLS:C1849172	hp.json	Underdeveloped frontal lobe|Frontal lobe hypoplasia|Hypoplastic frontal lobes	http://purl.obolibrary.org/obo/HP_0007333							
HP:0007334	biolink:PhenotypicFeature	Bilateral tonic-clonic seizure with focal onset	A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.	UMLS:C0877017	hp.json	Generalized tonic-clonic seizures with focal onset|Generalised tonic-clonic seizures with focal onset|Partial seizures with secondary generalisation|Secondary generalised tonic clonic seizures|Secondary generalised tonic-clonic seizures|'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							
HP:0007335	biolink:PhenotypicFeature	Recurrent encephalopathy	Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.	UMLS:C1850719	hp.json	Recurrent cerebellar and extrapyramidal encephalopathy	http://purl.obolibrary.org/obo/HP_0007335							
HP:0007338	biolink:PhenotypicFeature	Hypermetric saccades	A saccade that overshoots the target with the dynamic saccade.	SNOMEDCT_US:246769000|UMLS:C0423083	hp.json		http://purl.obolibrary.org/obo/HP_0007338							
HP:0007340	biolink:PhenotypicFeature	Lower limb muscle weakness	Weakness of the muscles of the legs.	SNOMEDCT_US:249945007|UMLS:C0427068|UMLS:C1836296	hp.json	Lower extremity weakness|Lower limb muscle weakness|Lower limb weakness|Muscle weakness in lower limbs|Leg weakness	http://purl.obolibrary.org/obo/HP_0007340							
HP:0007341	biolink:PhenotypicFeature	Diffuse swelling of cerebral white matter		UMLS:C1858855	hp.json		http://purl.obolibrary.org/obo/HP_0007341							
HP:0007343	biolink:PhenotypicFeature	Abnormal morphology of the limbic system	Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].	UMLS:C1863392	hp.json	Limbic malformation	http://purl.obolibrary.org/obo/HP_0007343							
HP:0007344	biolink:PhenotypicFeature	Atrophy/Degeneration involving the spinal cord		UMLS:C1843858	hp.json	Atrophic and degenerative changes in the spinal cord	http://purl.obolibrary.org/obo/HP_0007344							
HP:0007346	biolink:PhenotypicFeature	Subcortical white matter calcifications		UMLS:C1851430	hp.json		http://purl.obolibrary.org/obo/HP_0007346							
HP:0007348	biolink:PhenotypicFeature	Hypoplasia of the pyramidal tract		UMLS:C1850871	hp.json		http://purl.obolibrary.org/obo/HP_0007348							
HP:0007350	biolink:PhenotypicFeature	Hyperreflexia in upper limbs		UMLS:C1843175	hp.json		http://purl.obolibrary.org/obo/HP_0007350							
HP:0007351	biolink:PhenotypicFeature	Upper limb postural tremor	A type of tremors that is triggered by holding an arm in a fixed position.	UMLS:C1867138	hp.json	Postural tremor of arms	http://purl.obolibrary.org/obo/HP_0007351							
HP:0007352	biolink:PhenotypicFeature	Cerebellar calcifications		UMLS:C1851431	hp.json		http://purl.obolibrary.org/obo/HP_0007352							
HP:0007354	biolink:PhenotypicFeature	Amyotrophic lateral sclerosis		MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736	hp.json	Lou Gehrig's disease	http://purl.obolibrary.org/obo/HP_0007354							
HP:0007359	biolink:PhenotypicFeature	Focal-onset seizure	A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.	MSH:D012640|SNOMEDCT_US:29753000|UMLS:C0751495	hp.json	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							
HP:0007360	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebellum		UMLS:C3279222	hp.json	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	biolink:PhenotypicFeature	Abnormal pons morphology	A structural abnormality of the pons.	UMLS:C4024905	hp.json	Abnormality of the pons	http://purl.obolibrary.org/obo/HP_0007361							
HP:0007362	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the brainstem		UMLS:C4024904	hp.json	Absent/small brainstem|Absent/underdeveloped brainstem	http://purl.obolibrary.org/obo/HP_0007362							
HP:0007363	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the pyramidal tract		UMLS:C4024903	hp.json		http://purl.obolibrary.org/obo/HP_0007363							
HP:0007364	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebrum		UMLS:C4024902	hp.json	Absent/small cerebrum|Absent/underdeveloped cerebrum	http://purl.obolibrary.org/obo/HP_0007364							
HP:0007365	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the corticospinal tracts		UMLS:C4024901	hp.json		http://purl.obolibrary.org/obo/HP_0007365							
HP:0007366	biolink:PhenotypicFeature	Atrophy/Degeneration affecting the brainstem		UMLS:C4024900	hp.json	Brainstem atrophy	http://purl.obolibrary.org/obo/HP_0007366							
HP:0007367	biolink:PhenotypicFeature	Atrophy/Degeneration affecting the central nervous system		UMLS:C4024899	hp.json	Atrophy/Degeneration affecting the CNS	http://purl.obolibrary.org/obo/HP_0007367							
HP:0007369	biolink:PhenotypicFeature	Atrophy/Degeneration affecting the cerebrum	The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.	UMLS:C4024898	hp.json		http://purl.obolibrary.org/obo/HP_0007369							
HP:0007370	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the corpus callosum	Absence or underdevelopment of the corpus callosum.	UMLS:C1861866	hp.json	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							
HP:0007371	biolink:PhenotypicFeature	Corpus callosum atrophy	The presence of atrophy (wasting) of the corpus callosum.	SNOMEDCT_US:253142006|UMLS:C0431370	hp.json	Atrophic corpus callosum|Atrophy of the corpus callosum|Atrophy/Degeneration of the corpus callosum	http://purl.obolibrary.org/obo/HP_0007371							
HP:0007372	biolink:PhenotypicFeature	Atrophy/Degeneration involving the corticospinal tracts		UMLS:C4024897	hp.json		http://purl.obolibrary.org/obo/HP_0007372							
HP:0007373	biolink:PhenotypicFeature	Motor neuron atrophy	Wasting involving the motor neuron.	UMLS:C4024896	hp.json	Motor neuron degeneration	http://purl.obolibrary.org/obo/HP_0007373							
HP:0007374	biolink:PhenotypicFeature	Atrophy/Degeneration involving the caudate nucleus		UMLS:C4024895	hp.json		http://purl.obolibrary.org/obo/HP_0007374							
HP:0007375	biolink:PhenotypicFeature	Abnormality of the septum pellucidum	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.	UMLS:C4024894	hp.json		http://purl.obolibrary.org/obo/HP_0007375							
HP:0007376	biolink:PhenotypicFeature	Abnormal choroid plexus morphology	An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.	UMLS:C4024893	hp.json		http://purl.obolibrary.org/obo/HP_0007376							
HP:0007377	biolink:PhenotypicFeature	Abnormality of somatosensory evoked potentials	An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.	UMLS:C4021577	hp.json	Abnormality of SSEPs	http://purl.obolibrary.org/obo/HP_0007377							
HP:0007378	biolink:PhenotypicFeature	Neoplasm of the gastrointestinal tract	A tumor (abnormal growth of tissue) of the gastrointestinal tract.	MSH:D005770|NCIT:C3262|SNOMEDCT_US:126768004|UMLS:C0017185	hp.json	Neoplasm of the GI tract|GI tract tumor|Gastrointestinal tract tumor|GI tract tumour|Gastrointestinal tract tumour|Gastrointestinal tract neoplasia|Gastrointestinal tract neoplasm	http://purl.obolibrary.org/obo/HP_0007378							
HP:0007379	biolink:PhenotypicFeature	Neoplasm of the genitourinary tract	A tumor (abnormal growth of tissue) of the genitourinary system.	MSH:D014565|NCIT:C3262|UMLS:C0042065|UMLS:C4020809	hp.json	Neoplasm of the GU tract|Genitourinary tract tumors|Genitourinary tract tumours|Genitourinary tract neoplasm|Genitourinary tract neoplasia	http://purl.obolibrary.org/obo/HP_0007379							
HP:0007380	biolink:PhenotypicFeature	Facial telangiectasia	Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.	UMLS:C0858684	hp.json	Facial telangiectatic vessels|Telangiectasia, facial	http://purl.obolibrary.org/obo/HP_0007380							
HP:0007381	biolink:PhenotypicFeature	Congenital exfoliative erythroderma		UMLS:C4024892	hp.json		http://purl.obolibrary.org/obo/HP_0007381							
HP:0007383	biolink:PhenotypicFeature	Congenital localized absence of skin		UMLS:C2673597	hp.json	Congenital localised absence of skin|Congenital localised skin absence|Congenital localized skin absence	http://purl.obolibrary.org/obo/HP_0007383							
HP:0007384	biolink:PhenotypicFeature	Aberrant melanosome maturation		UMLS:C1969516	hp.json		http://purl.obolibrary.org/obo/HP_0007384							
HP:0007385	biolink:PhenotypicFeature	Aplasia cutis congenita of scalp	A developmental defect resulting in the congenital absence of skin on the scalp.	UMLS:C1855698|UMLS:C4048801|UMLS:C4072857|UMLS:C4072858	hp.json	Focal absence of scalp tissue|Defect of scalp|Scalp defect|Solitary scalp defect|Scalp aplasia cutis congenita	http://purl.obolibrary.org/obo/HP_0007385							hposlim_core
HP:0007387	biolink:PhenotypicFeature	Hypoplastic sweat glands	Underdevelopment of the sweat glands.	UMLS:C1832455	hp.json	Underdeveloped sweat glands	http://purl.obolibrary.org/obo/HP_0007387							
HP:0007390	biolink:PhenotypicFeature	Hyperkeratosis with erythema		UMLS:C4024891	hp.json		http://purl.obolibrary.org/obo/HP_0007390							
HP:0007392	biolink:PhenotypicFeature	Excessive wrinkled skin		UMLS:C4024890	hp.json	Excessive wrinkled skin	http://purl.obolibrary.org/obo/HP_0007392							
HP:0007394	biolink:PhenotypicFeature	Prominent superficial blood vessels		UMLS:C1848771	hp.json	Prominent superficial blood vessels|Prominent superficial vasculature	http://purl.obolibrary.org/obo/HP_0007394							
HP:0007395	biolink:PhenotypicFeature	Postnatal-onset ichthyosiform erythroderma	A type of ichthyosiform erythroderma with postnatal onset.	UMLS:C4021576	hp.json	Postnatal-onset ichthyosis	http://purl.obolibrary.org/obo/HP_0007395							
HP:0007396	biolink:PhenotypicFeature	Early cutaneous photosensitivity	Photosensitivity of the skin occurring early in life.	UMLS:C4024889	hp.json	Sun sensitivity occurring early in life	http://purl.obolibrary.org/obo/HP_0007396							
HP:0007397	biolink:PhenotypicFeature	Axillary apocrine gland hypoplasia	Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.	UMLS:C1867003	hp.json		http://purl.obolibrary.org/obo/HP_0007397							
HP:0007398	biolink:PhenotypicFeature	Asymmetric, linear skin defects		UMLS:C4024888	hp.json		http://purl.obolibrary.org/obo/HP_0007398							
HP:0007400	biolink:PhenotypicFeature	Irregular hyperpigmentation		UMLS:C1860236	hp.json		http://purl.obolibrary.org/obo/HP_0007400							
HP:0007401	biolink:PhenotypicFeature	Macular atrophy	Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.	MSH:D057088|SNOMEDCT_US:238828009|UMLS:C1288283	hp.json		http://purl.obolibrary.org/obo/HP_0007401							
HP:0007402	biolink:PhenotypicFeature	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines		UMLS:C4024886	hp.json		http://purl.obolibrary.org/obo/HP_0007402							
HP:0007403	biolink:PhenotypicFeature	Hypertrophy of skin of soles		UMLS:C1867617	hp.json	Thick skin of soles	http://purl.obolibrary.org/obo/HP_0007403							
HP:0007404	biolink:PhenotypicFeature	Nonepidermolytic palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.	MSH:C563422|UMLS:C1833030	hp.json	Nonepidermolytic palmoplantar keratoderma	http://purl.obolibrary.org/obo/HP_0007404							
HP:0007406	biolink:PhenotypicFeature	Hyperpigmentation of eyelids		MSH:C562400|SNOMEDCT_US:41115008|UMLS:C0155211|UMLS:C0854438|UMLS:C4280440	hp.json	Dark eyelids|Brown eyelids|Pigmentation of eyelids	http://purl.obolibrary.org/obo/HP_0007406							
HP:0007407	biolink:PhenotypicFeature	Excessive skin wrinkling on dorsum of hands and fingers		UMLS:C1837467	hp.json	Excessive skin wrinkling on back of hands and fingers	http://purl.obolibrary.org/obo/HP_0007407							
HP:0007408	biolink:PhenotypicFeature	Tegumentary leishmaniasis susceptibility	Increased susceptibility to infection by the protozan parasite of the genus Leishmania.	UMLS:C2748501	hp.json		http://purl.obolibrary.org/obo/HP_0007408							
HP:0007409	biolink:PhenotypicFeature	obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs			hp.json		http://purl.obolibrary.org/obo/HP_0007409							
HP:0007410	biolink:PhenotypicFeature	Palmoplantar hyperhidrosis	An abnormally increased perspiration on palms and soles.	MSH:C563185|SNOMEDCT_US:403375001|UMLS:C1274743	hp.json	Excessive sweating of palms and soles|Hyperhidrosis of palms and soles	http://purl.obolibrary.org/obo/HP_0007410							
HP:0007411	biolink:PhenotypicFeature	Hypoplastic-absent sebaceous glands		UMLS:C1844617	hp.json		http://purl.obolibrary.org/obo/HP_0007411							
HP:0007412	biolink:PhenotypicFeature	Macular hyperpigmented dermopathy		UMLS:C4024885	hp.json		http://purl.obolibrary.org/obo/HP_0007412							
HP:0007413	biolink:PhenotypicFeature	Nevus flammeus of the forehead	Naevus flammeus localised in the skin of the forehead.	UMLS:C1848850	hp.json	Port-wine stain on forehead	http://purl.obolibrary.org/obo/HP_0007413							
HP:0007414	biolink:PhenotypicFeature	Neonatal wrinkled skin of hands and feet		UMLS:C4024884	hp.json	Wrinkled skin of hands and feet in newborn	http://purl.obolibrary.org/obo/HP_0007414							
HP:0007417	biolink:PhenotypicFeature	Discoid lupus rash	Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.	MSH:D008179|SNOMEDCT_US:200938002|SNOMEDCT_US:238927000|UMLS:C0024138	hp.json	Discoid lupus erythematosus	http://purl.obolibrary.org/obo/HP_0007417							
HP:0007418	biolink:PhenotypicFeature	Alopecia totalis	Loss of all scalp hair.	SNOMEDCT_US:19754005|UMLS:C0263504	hp.json	Total alopecia	http://purl.obolibrary.org/obo/HP_0007418							
HP:0007420	biolink:PhenotypicFeature	Spontaneous hematomas	Spontaneous development of hematomas (hematoma) or bruises without significant trauma.	UMLS:C1697453	hp.json		http://purl.obolibrary.org/obo/HP_0007420							
HP:0007421	biolink:PhenotypicFeature	Telangiectases of the cheeks	Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.	UMLS:C3554587	hp.json	Telangiectasia on the cheeks	http://purl.obolibrary.org/obo/HP_0007421							
HP:0007425	biolink:PhenotypicFeature	Hyperextensible skin of face		UMLS:C4024883	hp.json	Hyperelastic face skin|Stretchable face skin	http://purl.obolibrary.org/obo/HP_0007425							
HP:0007427	biolink:PhenotypicFeature	Reticulated skin pigmentation		UMLS:C3279575|UMLS:C3279601	hp.json	Reticular pigmentation pattern|Reticulate skin pigmentation	http://purl.obolibrary.org/obo/HP_0007427							
HP:0007428	biolink:PhenotypicFeature	Telangiectasia of the oral mucosa	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.	UMLS:C4024882	hp.json	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							
HP:0007429	biolink:PhenotypicFeature	Few cafe-au-lait spots	The presence of two to five cafe-au-lait macules.	UMLS:C4024881	hp.json		http://purl.obolibrary.org/obo/HP_0007429							
HP:0007430	biolink:PhenotypicFeature	Generalized edema	Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	SNOMEDCT_US:271808008|UMLS:C1850534	hp.json	Generalised oedema|Generalised tissue oedema|Generalized tissue edema	http://purl.obolibrary.org/obo/HP_0007430							
HP:0007431	biolink:PhenotypicFeature	Congenital ichthyosiform erythroderma	An ichthyosiform abnormality of the skin with congenital onset.	MSH:D016113|SNOMEDCT_US:254156001|SNOMEDCT_US:268282005|UMLS:C0079583	hp.json	Congenital ichthyosis|Ichthyosis, congenital	http://purl.obolibrary.org/obo/HP_0007431							
HP:0007432	biolink:PhenotypicFeature	Intermittent generalized erythematous papular rash		UMLS:C2749995	hp.json	Intermittent generalised erythematous papular rash	http://purl.obolibrary.org/obo/HP_0007432							
HP:0007434	biolink:PhenotypicFeature	Plaque-like facial hemangioma	Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.	UMLS:C1847884	hp.json	Hemangioma, facial, plaque-like	http://purl.obolibrary.org/obo/HP_0007434							
HP:0007435	biolink:PhenotypicFeature	obsolete Diffuse palmoplantar keratoderma			hp.json		http://purl.obolibrary.org/obo/HP_0007435							
HP:0007436	biolink:PhenotypicFeature	Hair-nail ectodermal dysplasia		UMLS:C4024880	hp.json		http://purl.obolibrary.org/obo/HP_0007436							
HP:0007437	biolink:PhenotypicFeature	Multiple cutaneous leiomyomas	The presence of multiple leiomyomas of the skin.	MSH:C535516|NCIT:C3157|UMLS:C1708350	hp.json		http://purl.obolibrary.org/obo/HP_0007437							
HP:0007438	biolink:PhenotypicFeature	Mottled pigmentation of the trunk and proximal extremities		UMLS:C1851551	hp.json		http://purl.obolibrary.org/obo/HP_0007438							
HP:0007439	biolink:PhenotypicFeature	Generalized keratosis follicularis		UMLS:C4024879	hp.json	Generalised keratosis follicularis	http://purl.obolibrary.org/obo/HP_0007439							
HP:0007440	biolink:PhenotypicFeature	Generalized hyperpigmentation		UMLS:C4024878	hp.json	Generalised hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007440							
HP:0007441	biolink:PhenotypicFeature	Hyperpigmented/hypopigmented macules		UMLS:C4024877	hp.json		http://purl.obolibrary.org/obo/HP_0007441							
HP:0007443	biolink:PhenotypicFeature	Partial albinism	Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.	MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024	hp.json	Partial absent skin pigmentation|Congenital partial albinism on face, trunk, or limbs|Congenital partial leucoderma	http://purl.obolibrary.org/obo/HP_0007443							
HP:0007446	biolink:PhenotypicFeature	Palmoplantar blistering	A type of blistering that affects the skin of the palms of the hands and the soles of the feet.	UMLS:C4024876	hp.json		http://purl.obolibrary.org/obo/HP_0007446							
HP:0007447	biolink:PhenotypicFeature	Diffuse palmoplantar hyperkeratosis	Diffuse abnormal thickening of the skin on the palms and soles.	MSH:D015776|UMLS:C4021575	hp.json	Diffuse palmoplantar keratoderma|Hyperkeratosis, diffuse palmoplantar	http://purl.obolibrary.org/obo/HP_0007447							
HP:0007448	biolink:PhenotypicFeature	Hyperkeratosis over edematous areas		UMLS:C1835253	hp.json		http://purl.obolibrary.org/obo/HP_0007448							
HP:0007449	biolink:PhenotypicFeature	Confetti-like hypopigmented macules		UMLS:C1851705	hp.json		http://purl.obolibrary.org/obo/HP_0007449							
HP:0007450	biolink:PhenotypicFeature	Increased groin pigmentation with raindrop depigmentation		UMLS:C4024875	hp.json		http://purl.obolibrary.org/obo/HP_0007450							
HP:0007451	biolink:PhenotypicFeature	Ipsilateral lack of facial sweating		UMLS:C4024874	hp.json		http://purl.obolibrary.org/obo/HP_0007451							
HP:0007452	biolink:PhenotypicFeature	Midface capillary hemangioma		UMLS:C1849377	hp.json	Midfacial capillary hemangioma	http://purl.obolibrary.org/obo/HP_0007452							
HP:0007453	biolink:PhenotypicFeature	Flexural lichenification	Lichenification affecting primarily flexural areas of the skin.	UMLS:C4024873	hp.json		http://purl.obolibrary.org/obo/HP_0007453							
HP:0007455	biolink:PhenotypicFeature	Adermatoglyphia		MSH:C565010|UMLS:C1852150	hp.json		http://purl.obolibrary.org/obo/HP_0007455							
HP:0007456	biolink:PhenotypicFeature	Progressive reticulate hyperpigmentation		UMLS:C4024872	hp.json		http://purl.obolibrary.org/obo/HP_0007456							
HP:0007457	biolink:PhenotypicFeature	Prominent veins on trunk	Prominent thoracic and abdominal veins.	UMLS:C4024871	hp.json		http://purl.obolibrary.org/obo/HP_0007457							
HP:0007458	biolink:PhenotypicFeature	Focal hyperextensible skin		UMLS:C4024870	hp.json		http://purl.obolibrary.org/obo/HP_0007458							
HP:0007459	biolink:PhenotypicFeature	Generalized anhidrosis		UMLS:C4024869	hp.json	Generalised anhidrosis|Generalised anhydrosis|Generalised inability to sweat|Generalized anhydrosis|Generalized inability to sweat	http://purl.obolibrary.org/obo/HP_0007459							
HP:0007460	biolink:PhenotypicFeature	Autoamputation of digits		UMLS:C1852289	hp.json		http://purl.obolibrary.org/obo/HP_0007460							
HP:0007461	biolink:PhenotypicFeature	Hemangiomatosis		SNOMEDCT_US:254785001|SNOMEDCT_US:47669001|UMLS:C1384590	hp.json		http://purl.obolibrary.org/obo/HP_0007461							
HP:0007462	biolink:PhenotypicFeature	Bitot spots of the conjunctiva	Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.	SNOMEDCT_US:246871006|UMLS:C0423178|UMLS:C4024868	hp.json	Bitot's spots	http://purl.obolibrary.org/obo/HP_0007462							
HP:0007464	biolink:PhenotypicFeature	Sparse facial hair	Reduced number or density of facial hair.	UMLS:C2017869	hp.json	Sparse facial hair	http://purl.obolibrary.org/obo/HP_0007464							
HP:0007465	biolink:PhenotypicFeature	Honeycomb palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.	UMLS:C1866032	hp.json		http://purl.obolibrary.org/obo/HP_0007465							
HP:0007466	biolink:PhenotypicFeature	Midfrontal capillary hemangioma		UMLS:C1859339	hp.json		http://purl.obolibrary.org/obo/HP_0007466							
HP:0007468	biolink:PhenotypicFeature	Perifollicular hyperkeratosis	Increased amount of keratin (visible as white scales) surrounding hair follicles.	UMLS:C4024867	hp.json		http://purl.obolibrary.org/obo/HP_0007468							hposlim_core
HP:0007469	biolink:PhenotypicFeature	Palmoplantar cutis gyrata	Cutis gyrata of palms and soles.	UMLS:C1851797	hp.json	Cutis gyrata of palms and soles	http://purl.obolibrary.org/obo/HP_0007469							
HP:0007470	biolink:PhenotypicFeature	Periarticular subcutaneous nodules	Subcutaneous nodules that are located in the vicinity of joints.	UMLS:C3806306	hp.json		http://purl.obolibrary.org/obo/HP_0007470							
HP:0007471	biolink:PhenotypicFeature	Axillary and groin hyperpigmentation and hypopigmentation		UMLS:C4024866	hp.json		http://purl.obolibrary.org/obo/HP_0007471							
HP:0007473	biolink:PhenotypicFeature	Crusting erythematous dermatitis		UMLS:C1868496	hp.json		http://purl.obolibrary.org/obo/HP_0007473							
HP:0007475	biolink:PhenotypicFeature	Congenital bullous ichthyosiform erythroderma	An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.	MSH:D017488|SNOMEDCT_US:239071005|SNOMEDCT_US:254167000|UMLS:C0079153	hp.json	Bullous congenital ichthyosiform erythroderma|Epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/HP_0007475							
HP:0007476	biolink:PhenotypicFeature	Anhidrotic ectodermal dysplasia		MSH:D004476|SNOMEDCT_US:7731005|UMLS:C1706004	hp.json		http://purl.obolibrary.org/obo/HP_0007476							
HP:0007477	biolink:PhenotypicFeature	Abnormal dermatoglyphics	An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.	SNOMEDCT_US:83145004|UMLS:C0432333	hp.json	Abnormal fingerprints|Dermatoglyphic abnormalities	http://purl.obolibrary.org/obo/HP_0007477							hposlim_core
HP:0007479	biolink:PhenotypicFeature	Congenital nonbullous ichthyosiform erythroderma	The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.	MSH:D017490|SNOMEDCT_US:205550003|SNOMEDCT_US:267372009|SNOMEDCT_US:268245001|UMLS:C0079154	hp.json	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							
HP:0007480	biolink:PhenotypicFeature	Decreased sweating due to autonomic dysfunction		UMLS:C1868527	hp.json		http://purl.obolibrary.org/obo/HP_0007480							
HP:0007481	biolink:PhenotypicFeature	Hyperpigmented nevi		UMLS:C0746889	hp.json		http://purl.obolibrary.org/obo/HP_0007481							
HP:0007482	biolink:PhenotypicFeature	Generalized papillary lesions		UMLS:C4024865	hp.json	Generalised papillary lesions	http://purl.obolibrary.org/obo/HP_0007482							
HP:0007483	biolink:PhenotypicFeature	Depigmentation/hyperpigmentation of skin		UMLS:C4024864	hp.json		http://purl.obolibrary.org/obo/HP_0007483							
HP:0007485	biolink:PhenotypicFeature	Absence of subcutaneous fat	Lack of subcutaneous adipose tissue.	UMLS:C0241267|UMLS:C4024855	hp.json	Absent fat below the skin|Lack of fatty tissue below the skin|General absence of subcutaneous fat	http://purl.obolibrary.org/obo/HP_0007485							
HP:0007486	biolink:PhenotypicFeature	Cavernous hemangioma of the face		NCIT:C3086|UMLS:C1332863	hp.json		http://purl.obolibrary.org/obo/HP_0007486							
HP:0007488	biolink:PhenotypicFeature	Diffuse skin atrophy		UMLS:C4024863	hp.json		http://purl.obolibrary.org/obo/HP_0007488							
HP:0007489	biolink:PhenotypicFeature	Diffuse telangiectasia	Telangiectases (small dilated blood vessels) with a diffuse localization.	SNOMEDCT_US:125279001|UMLS:C1265776	hp.json	Diffuse telangiectases|Telangiectases, random body distribution	http://purl.obolibrary.org/obo/HP_0007489							
HP:0007490	biolink:PhenotypicFeature	Linear arrays of macular hyperkeratoses in flexural areas		UMLS:C1866031	hp.json		http://purl.obolibrary.org/obo/HP_0007490							
HP:0007494	biolink:PhenotypicFeature	Discrete 2 to 5-mm hyper- and hypopigmented macules		UMLS:C1851552	hp.json		http://purl.obolibrary.org/obo/HP_0007494							
HP:0007495	biolink:PhenotypicFeature	Prematurely aged appearance		UMLS:C1857656	hp.json	Precociously senile appearance|Prematurely aged appearance	http://purl.obolibrary.org/obo/HP_0007495							
HP:0007497	biolink:PhenotypicFeature	Focal friction-related palmoplantar hyperkeratosis	Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.	UMLS:C1835654	hp.json	Hyperkeratosis, palmoplantar, focal friction-related	http://purl.obolibrary.org/obo/HP_0007497							
HP:0007499	biolink:PhenotypicFeature	Recurrent staphylococcal infections	Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.	UMLS:C4024862	hp.json	Recurrent staphylococcal infections	http://purl.obolibrary.org/obo/HP_0007499							
HP:0007500	biolink:PhenotypicFeature	Decreased number of sweat glands	The presence of fewer than normal sweat glands.	UMLS:C4021574	hp.json	Decreased sweat glands|Decreased sweat pores	http://purl.obolibrary.org/obo/HP_0007500							
HP:0007501	biolink:PhenotypicFeature	Streaks of hyperkeratosis along each finger onto the palm		UMLS:C4024861	hp.json		http://purl.obolibrary.org/obo/HP_0007501							
HP:0007502	biolink:PhenotypicFeature	Follicular hyperkeratosis	A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.	SNOMEDCT_US:238629004|SNOMEDCT_US:402341008|SNOMEDCT_US:81845009|UMLS:C0334013	hp.json	Hyperkeratosis follicularis	http://purl.obolibrary.org/obo/HP_0007502							hposlim_core
HP:0007503	biolink:PhenotypicFeature	Generalized ichthyosis		UMLS:C3552528	hp.json	Generalised ichthyosis	http://purl.obolibrary.org/obo/HP_0007503							
HP:0007504	biolink:PhenotypicFeature	Diffuse slow skin atrophy		UMLS:C4024860	hp.json		http://purl.obolibrary.org/obo/HP_0007504							
HP:0007505	biolink:PhenotypicFeature	Progressive hyperpigmentation		UMLS:C4024859	hp.json		http://purl.obolibrary.org/obo/HP_0007505							
HP:0007506	biolink:PhenotypicFeature	Congenital absence of skin of limbs		UMLS:C4024858	hp.json	Missing skin on limbs since birth	http://purl.obolibrary.org/obo/HP_0007506							
HP:0007508	biolink:PhenotypicFeature	Punctate palmar hyperkeratosis	Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.	UMLS:C4024857	hp.json		http://purl.obolibrary.org/obo/HP_0007508							
HP:0007509	biolink:PhenotypicFeature	Patchy hypo- and hyperpigmentation		UMLS:C4021573	hp.json	Patchy hypo- and hyper-pigmentation	http://purl.obolibrary.org/obo/HP_0007509							
HP:0007510	biolink:PhenotypicFeature	Focal dermal aplasia/hypoplasia		UMLS:C1834069	hp.json		http://purl.obolibrary.org/obo/HP_0007510							
HP:0007511	biolink:PhenotypicFeature	Mottled pigmentation of photoexposed areas		UMLS:C3151964	hp.json		http://purl.obolibrary.org/obo/HP_0007511							
HP:0007513	biolink:PhenotypicFeature	Generalized hypopigmentation		UMLS:C1849923	hp.json	Fair skin|Pale pigmentation|Generalised hypopigmentation	http://purl.obolibrary.org/obo/HP_0007513							hposlim_core
HP:0007514	biolink:PhenotypicFeature	Edema of the dorsum of hands	An abnormal accumulation of fluid beneath the skin on the back of the hands.	MEDDRA:10058204|SNOMEDCT_US:443710002|UMLS:C2732374|UMLS:C2751873	hp.json	Oedema of dorsum of hands|Oedema of the dorsum of hands|Edema of dorsum of hands	http://purl.obolibrary.org/obo/HP_0007514							
HP:0007515	biolink:PhenotypicFeature	Hypoplastic pilosebaceous units		UMLS:C1832454	hp.json		http://purl.obolibrary.org/obo/HP_0007515							
HP:0007516	biolink:PhenotypicFeature	Redundant skin on fingers	Loose and sagging skin of the fingers.	UMLS:C4024856	hp.json	Extra skin on fingers	http://purl.obolibrary.org/obo/HP_0007516							
HP:0007517	biolink:PhenotypicFeature	Palmoplantar cutis laxa	Loose, wrinkled skin of hands and feet.	UMLS:C1856714	hp.json	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							
HP:0007519	biolink:PhenotypicFeature	obsolete Lack of subcutaneous fatty tissue			hp.json		http://purl.obolibrary.org/obo/HP_0007519							
HP:0007521	biolink:PhenotypicFeature	Irregular hyperpigmentation of back		UMLS:C4024854	hp.json		http://purl.obolibrary.org/obo/HP_0007521							
HP:0007522	biolink:PhenotypicFeature	Increased number of skin folds		UMLS:C4024853	hp.json	Increased number of skin folds	http://purl.obolibrary.org/obo/HP_0007522							
HP:0007524	biolink:PhenotypicFeature	Atypical neurofibromatosis		MSH:C537392|UMLS:C0220695	hp.json		http://purl.obolibrary.org/obo/HP_0007524							
HP:0007525	biolink:PhenotypicFeature	Yellow subcutaneous tissue covered by thin, scaly skin		UMLS:C1850533	hp.json		http://purl.obolibrary.org/obo/HP_0007525							
HP:0007526	biolink:PhenotypicFeature	Hypopigmented skin patches on arms		UMLS:C4024852	hp.json	Patchy loss of skin color on arms|Patchy loss of skin colour on arms|Hypopigmented skin patches on arms	http://purl.obolibrary.org/obo/HP_0007526							
HP:0007529	biolink:PhenotypicFeature	Hidrotic ectodermal dysplasia		MSH:D004476|SNOMEDCT_US:54209007|UMLS:C0162361	hp.json		http://purl.obolibrary.org/obo/HP_0007529							
HP:0007530	biolink:PhenotypicFeature	Punctate palmoplantar hyperkeratosis		UMLS:C4024851	hp.json		http://purl.obolibrary.org/obo/HP_0007530							
HP:0007534	biolink:PhenotypicFeature	Congenital posterior occipital alopecia	Loss of hair in the occipital region of the scalp with congenital onset.	UMLS:C4024850	hp.json		http://purl.obolibrary.org/obo/HP_0007534							
HP:0007535	biolink:PhenotypicFeature	Hypopigmented streaks		UMLS:C1866244	hp.json		http://purl.obolibrary.org/obo/HP_0007535							
HP:0007536	biolink:PhenotypicFeature	Aplasia cutis congenita of midline scalp vertex		UMLS:C4024849	hp.json		http://purl.obolibrary.org/obo/HP_0007536							
HP:0007537	biolink:PhenotypicFeature	Severe photosensitivity	A severe degree of photosensitivity of the skin.	UMLS:C1849186	hp.json	Severe sun sensitivity	http://purl.obolibrary.org/obo/HP_0007537							
HP:0007541	biolink:PhenotypicFeature	Frontal cutaneous lipoma	Presence of a cutaneous lipoma on the forehead.	NCIT:C3192|UMLS:C1850970	hp.json		http://purl.obolibrary.org/obo/HP_0007541							
HP:0007542	biolink:PhenotypicFeature	Absent pigmentation of the ventral chest	Lack of skin pigmentation (coloring) of the anterior chest.	UMLS:C4024848	hp.json		http://purl.obolibrary.org/obo/HP_0007542							
HP:0007543	biolink:PhenotypicFeature	Epidermal hyperkeratosis		UMLS:C1848773	hp.json	Increased thickness of skin epidermis	http://purl.obolibrary.org/obo/HP_0007543							
HP:0007544	biolink:PhenotypicFeature	Piebaldism	Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.	MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024	hp.json		http://purl.obolibrary.org/obo/HP_0007544							
HP:0007545	biolink:PhenotypicFeature	Congenital palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles that is present at birth.	UMLS:C1855633	hp.json	Congenital palmoplantar keratoderma|Congenital palmoplantar keratodermia|Congenital palmoplantar keratosis	http://purl.obolibrary.org/obo/HP_0007545							
HP:0007546	biolink:PhenotypicFeature	Linear hyperpigmentation		UMLS:C3278658	hp.json		http://purl.obolibrary.org/obo/HP_0007546							
HP:0007548	biolink:PhenotypicFeature	Palmoplantar keratosis with erythema and scale		UMLS:C1843294	hp.json		http://purl.obolibrary.org/obo/HP_0007548							
HP:0007549	biolink:PhenotypicFeature	Desquamation of skin soon after birth		UMLS:C1842714	hp.json		http://purl.obolibrary.org/obo/HP_0007549							
HP:0007550	biolink:PhenotypicFeature	Hypohidrosis or hyperhidrosis		UMLS:C4021831	hp.json	Lack of sweating or excessive sweating	http://purl.obolibrary.org/obo/HP_0007550							
HP:0007552	biolink:PhenotypicFeature	Abnormal subcutaneous fat tissue distribution		UMLS:C1859347	hp.json	Abnormal fat tissue distribution below the skin	http://purl.obolibrary.org/obo/HP_0007552							
HP:0007553	biolink:PhenotypicFeature	Congenital symmetrical palmoplantar keratosis		UMLS:C1855459	hp.json		http://purl.obolibrary.org/obo/HP_0007553							
HP:0007554	biolink:PhenotypicFeature	Confetti hypopigmentation pattern of lower leg skin		UMLS:C4024847	hp.json	Confetti hypopigmentation pattern of lower leg skin	http://purl.obolibrary.org/obo/HP_0007554							
HP:0007556	biolink:PhenotypicFeature	Plantar hyperkeratosis	Hyperkeratosis affecting the sole of the foot.	UMLS:C1856954	hp.json	Plantar hyperkeratoses	http://purl.obolibrary.org/obo/HP_0007556							
HP:0007559	biolink:PhenotypicFeature	Localized epidermolytic hyperkeratosis		MSH:D053546|UMLS:C1721006	hp.json	Localised epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/HP_0007559							
HP:0007560	biolink:PhenotypicFeature	Unusual dermatoglyphics		UMLS:C4024846	hp.json		http://purl.obolibrary.org/obo/HP_0007560							
HP:0007561	biolink:PhenotypicFeature	Telangiectases in sun-exposed and nonexposed skin		UMLS:C1868184	hp.json		http://purl.obolibrary.org/obo/HP_0007561							
HP:0007565	biolink:PhenotypicFeature	Multiple cafe-au-lait spots	The presence of six or more cafe-au-lait spots.	MSH:C537421|UMLS:C1861975	hp.json	Multiple birthmarks|Multiple flat light-brown marks on skin	http://purl.obolibrary.org/obo/HP_0007565							
HP:0007566	biolink:PhenotypicFeature	Index finger dermatoglyphic radial loop		UMLS:C4024845	hp.json		http://purl.obolibrary.org/obo/HP_0007566							
HP:0007569	biolink:PhenotypicFeature	Generalized seborrheic dermatitis	Seborrheic dermatitis that is not localized to any one particular region.	UMLS:C4024844	hp.json	Generalised seborrheic dermatitis|Generalised seborrheic eczema|Generalized seborrheic eczema	http://purl.obolibrary.org/obo/HP_0007569							
HP:0007570	biolink:PhenotypicFeature	Hyperkeratosis lenticularis perstans	Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.	MSH:C538377|SNOMEDCT_US:28488007|UMLS:C0263420	hp.json	Flegel disease	http://purl.obolibrary.org/obo/HP_0007570							
HP:0007572	biolink:PhenotypicFeature	Hyperpigmented streaks		UMLS:C1866245	hp.json		http://purl.obolibrary.org/obo/HP_0007572							
HP:0007573	biolink:PhenotypicFeature	Late onset atopic dermatitis	A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.	UMLS:C4024843|UMLS:C4280439	hp.json	Late onset baby eczema	http://purl.obolibrary.org/obo/HP_0007573							
HP:0007574	biolink:PhenotypicFeature	Generalized bronze hyperpigmentation		UMLS:C2939074|UMLS:C4024842	hp.json	Bronze skin|Generalised bronze hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007574							
HP:0007576	biolink:PhenotypicFeature	Palmar neurofibromas		UMLS:C4024841	hp.json		http://purl.obolibrary.org/obo/HP_0007576							
HP:0007581	biolink:PhenotypicFeature	Mediosternal, longitudinal streak of hypopigmentation		UMLS:C4024840	hp.json		http://purl.obolibrary.org/obo/HP_0007581							
HP:0007583	biolink:PhenotypicFeature	Telangiectasia macularis eruptiva perstans		SNOMEDCT_US:8214000|UMLS:C0263402	hp.json		http://purl.obolibrary.org/obo/HP_0007583							
HP:0007585	biolink:PhenotypicFeature	Skin fragility with non-scarring blistering		UMLS:C1851562	hp.json		http://purl.obolibrary.org/obo/HP_0007585							
HP:0007586	biolink:PhenotypicFeature	Telangiectases producing 'marbled' skin		UMLS:C4024839	hp.json		http://purl.obolibrary.org/obo/HP_0007586							
HP:0007587	biolink:PhenotypicFeature	Numerous pigmented freckles		UMLS:C1968565	hp.json	Numerous pigmented freckles	http://purl.obolibrary.org/obo/HP_0007587							
HP:0007588	biolink:PhenotypicFeature	Reticular hyperpigmentation	Increased pigmentation of the skin with a netlike (reticular) pattern.	UMLS:C1851972	hp.json	Reticulate hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007588							
HP:0007589	biolink:PhenotypicFeature	Aplasia cutis congenita on trunk or limbs	A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.	UMLS:C1863496	hp.json		http://purl.obolibrary.org/obo/HP_0007589							
HP:0007590	biolink:PhenotypicFeature	Aplasia cutis congenita over posterior parietal area		UMLS:C1863495	hp.json		http://purl.obolibrary.org/obo/HP_0007590							
HP:0007592	biolink:PhenotypicFeature	Aplasia/Hypoplastia of the eccrine sweat glands	Absence or developmental hypoplasia of the eccrine sweat glands.	UMLS:C1844618	hp.json	Hypoplastic-absent eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0007592							
HP:0007595	biolink:PhenotypicFeature	Redundant skin in infancy		UMLS:C1835587	hp.json	Excess skin in infancy	http://purl.obolibrary.org/obo/HP_0007595							
HP:0007596	biolink:PhenotypicFeature	Painful subcutaneous lipomas	The presence of multiple subcutaneous lipoma that cause pain.	UMLS:C4024838	hp.json	Painful noncancerous fat tissue tumor under the skin|Painful noncancerous fat tissue tumour under the skin	http://purl.obolibrary.org/obo/HP_0007596							
HP:0007597	biolink:PhenotypicFeature	obsolete Congenital palmoplantar keratodermia			hp.json		http://purl.obolibrary.org/obo/HP_0007597							
HP:0007598	biolink:PhenotypicFeature	Bilateral single transverse palmar creases	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.	UMLS:C1862095	hp.json		http://purl.obolibrary.org/obo/HP_0007598							
HP:0007599	biolink:PhenotypicFeature	Generalized reticulate brown pigmentation		UMLS:C4024836	hp.json	Generalised reticulate brown pigmentation	http://purl.obolibrary.org/obo/HP_0007599							
HP:0007601	biolink:PhenotypicFeature	Midline facial capillary hemangioma		UMLS:C1840310	hp.json		http://purl.obolibrary.org/obo/HP_0007601							
HP:0007602	biolink:PhenotypicFeature	Complex palmar dermatoglyphic pattern		UMLS:C4024835	hp.json		http://purl.obolibrary.org/obo/HP_0007602							
HP:0007603	biolink:PhenotypicFeature	Freckles in sun-exposed areas		UMLS:C1859923	hp.json	Freckles in sun-exposed areas	http://purl.obolibrary.org/obo/HP_0007603							
HP:0007605	biolink:PhenotypicFeature	Excessive wrinkling of palmar skin		UMLS:C4021572	hp.json	Redundant, wrinkled skin of palms	http://purl.obolibrary.org/obo/HP_0007605							
HP:0007606	biolink:PhenotypicFeature	Multiple cutaneous malignancies		UMLS:C4024834	hp.json		http://purl.obolibrary.org/obo/HP_0007606							
HP:0007607	biolink:PhenotypicFeature	Hypohidrotic ectodermal dysplasia		MSH:D053358|SNOMEDCT_US:239007005|SNOMEDCT_US:7731005|UMLS:C0162359	hp.json		http://purl.obolibrary.org/obo/HP_0007607							
HP:0007608	biolink:PhenotypicFeature	Abnormal palmar dermal ridges		UMLS:C4024833	hp.json		http://purl.obolibrary.org/obo/HP_0007608							
HP:0007609	biolink:PhenotypicFeature	Hypoproteinemic edema	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).	UMLS:C4024832	hp.json	Hypoproteinemic oedema	http://purl.obolibrary.org/obo/HP_0007609							
HP:0007610	biolink:PhenotypicFeature	Blotching pigmentation of the skin		UMLS:C4024831	hp.json		http://purl.obolibrary.org/obo/HP_0007610							
HP:0007613	biolink:PhenotypicFeature	Spinous keratoses of palms and soles		UMLS:C4024830	hp.json		http://purl.obolibrary.org/obo/HP_0007613							
HP:0007616	biolink:PhenotypicFeature	Nevus flammeus nuchae	Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.	UMLS:C0860468|UMLS:C4024829|UMLS:C4280438	hp.json	Port-wine stain on neck|Stork bite|Angel's kiss|Salmon patch	http://purl.obolibrary.org/obo/HP_0007616							
HP:0007617	biolink:PhenotypicFeature	Fine, reticulate skin pigmentation		UMLS:C4024828	hp.json		http://purl.obolibrary.org/obo/HP_0007617							
HP:0007618	biolink:PhenotypicFeature	Subcutaneous calcification	Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).	SNOMEDCT_US:17141001|UMLS:C0263625	hp.json	Skin calcification	http://purl.obolibrary.org/obo/HP_0007618							hposlim_core
HP:0007620	biolink:PhenotypicFeature	Cutaneous leiomyoma	The presence of leiomyoma of the skin.	NCIT:C3157|SNOMEDCT_US:254767008|UMLS:C0346064	hp.json	Cutaneous leiomyomas|Cutaneous leiomyomata	http://purl.obolibrary.org/obo/HP_0007620							
HP:0007621	biolink:PhenotypicFeature	Telangiectasia of extensor surfaces		UMLS:C4024827	hp.json		http://purl.obolibrary.org/obo/HP_0007621							
HP:0007623	biolink:PhenotypicFeature	Pigmentation anomalies of sun-exposed skin		UMLS:C4024826	hp.json	Abnormal pigmentation in sun-exposed skin	http://purl.obolibrary.org/obo/HP_0007623							
HP:0007626	biolink:PhenotypicFeature	Mandibular osteomyelitis	Osteomyelitis of the lower jaw.	SNOMEDCT_US:109695005|UMLS:C1290708	hp.json	Lower jaw bone infection|Osteomyelitis, especially of the mandible	http://purl.obolibrary.org/obo/HP_0007626							
HP:0007627	biolink:PhenotypicFeature	Mandibular condyle aplasia		SNOMEDCT_US:235119009|UMLS:C0399570|UMLS:C4280429|UMLS:C4280430|UMLS:C4280431|UMLS:C4280432|UMLS:C4280433|UMLS:C4280434|UMLS:C4280435|UMLS:C4280436|UMLS:C4280437	hp.json	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	biolink:PhenotypicFeature	Mandibular condyle hypoplasia		SNOMEDCT_US:235120003|UMLS:C0399572|UMLS:C4280423|UMLS:C4280424|UMLS:C4280425|UMLS:C4280426|UMLS:C4280427|UMLS:C4280428	hp.json	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	biolink:PhenotypicFeature	Bilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of both eyes.	UMLS:C1843496|UMLS:C4280421|UMLS:C4280422	hp.json	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							
HP:0007634	biolink:PhenotypicFeature	Nonarteritic anterior ischemic optic neuropathy	An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.	UMLS:C1852242	hp.json	Nonarteritic anterior ischaemic optic neuropathy	http://purl.obolibrary.org/obo/HP_0007634							
HP:0007641	biolink:PhenotypicFeature	Dyschromatopsia	A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.	UMLS:C0858618	hp.json	Color blindness|Colour blindness	http://purl.obolibrary.org/obo/HP_0007641							
HP:0007642	biolink:PhenotypicFeature	Congenital stationary night blindness	A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.	MSH:C536122|MSH:C537743|SNOMEDCT_US:193687000|SNOMEDCT_US:232061009|UMLS:C0339535|UMLS:C1306122|UMLS:C3551052|UMLS:C4048798	hp.json	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							
HP:0007643	biolink:PhenotypicFeature	Peripheral tractional retinal detachment	Tractional retinal detachment at the periphery of the retina.	UMLS:C4024825	hp.json	Peripheral traction retinal detachment|Tractional retinal detachment at the periphery of the retina	http://purl.obolibrary.org/obo/HP_0007643							
HP:0007646	biolink:PhenotypicFeature	Absent lower eyelashes	Lack of eyelashes on the lower lid.	UMLS:C4024824	hp.json	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							
HP:0007647	biolink:PhenotypicFeature	Congenital extraocular muscle anomaly	Congenital abnormality of the extraocular muscles.	UMLS:C4024823	hp.json		http://purl.obolibrary.org/obo/HP_0007647							
HP:0007648	biolink:PhenotypicFeature	Punctate cataract	A type of cataract with punctate opacities of the lens.	SNOMEDCT_US:40714009|UMLS:C0271165|UMLS:C1969675	hp.json	Punctate lenticular opacities	http://purl.obolibrary.org/obo/HP_0007648							
HP:0007649	biolink:PhenotypicFeature	Congenital hypertrophy of retinal pigment epithelium	Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.	SNOMEDCT_US:232074003|UMLS:C0339555	hp.json		http://purl.obolibrary.org/obo/HP_0007649							
HP:0007650	biolink:PhenotypicFeature	Progressive ophthalmoplegia		UMLS:C2062713	hp.json		http://purl.obolibrary.org/obo/HP_0007650							
HP:0007651	biolink:PhenotypicFeature	Ectropion of lower eyelids		SNOMEDCT_US:95758006|UMLS:C0521736|UMLS:C4020808	hp.json	Lower eyelid folded out|Lower eyelid turned out|Everted lower eyelids	http://purl.obolibrary.org/obo/HP_0007651							
HP:0007654	biolink:PhenotypicFeature	obsolete Retinal striation			hp.json		http://purl.obolibrary.org/obo/HP_0007654							
HP:0007655	biolink:PhenotypicFeature	Eversion of lateral third of lower eyelids		UMLS:C1835801	hp.json		http://purl.obolibrary.org/obo/HP_0007655							
HP:0007656	biolink:PhenotypicFeature	Lacrimal gland aplasia	A congenital defect of development characterized by absence of the lacrimal gland.	UMLS:C4024822	hp.json	Absent tear gland	http://purl.obolibrary.org/obo/HP_0007656							
HP:0007657	biolink:PhenotypicFeature	Diffuse nuclear cataract	Opacity of the entire lens nucleus.	UMLS:C4024821	hp.json		http://purl.obolibrary.org/obo/HP_0007657							
HP:0007658	biolink:PhenotypicFeature	Large hyperpigmented retinal spots		UMLS:C4024820	hp.json		http://purl.obolibrary.org/obo/HP_0007658							
HP:0007659	biolink:PhenotypicFeature	obsolete Decreased retinal pigmentation with dispersion			hp.json		http://purl.obolibrary.org/obo/HP_0007659							
HP:0007661	biolink:PhenotypicFeature	Abnormality of chorioretinal pigmentation		UMLS:C4024819	hp.json		http://purl.obolibrary.org/obo/HP_0007661							
HP:0007663	biolink:PhenotypicFeature	Reduced visual acuity		SNOMEDCT_US:13164000|UMLS:C0234632	hp.json	Decreased clarity of vision|Decreased central vision|Decreased visual acuity|Poor visual acuity	http://purl.obolibrary.org/obo/HP_0007663							
HP:0007665	biolink:PhenotypicFeature	Curly eyelashes	Abnormally curly or curved eyelashes.	UMLS:C2673670	hp.json	Curly eyelashes	http://purl.obolibrary.org/obo/HP_0007665							hposlim_core
HP:0007667	biolink:PhenotypicFeature	Peripheral cystoid retinal degeneration	Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.	UMLS:C1839362	hp.json	Cystic retinal degeneration|Peripheral cystoid degeneration	http://purl.obolibrary.org/obo/HP_0007667							
HP:0007668	biolink:PhenotypicFeature	Impaired pursuit initiation and maintenance		UMLS:C1969722	hp.json		http://purl.obolibrary.org/obo/HP_0007668							
HP:0007670	biolink:PhenotypicFeature	Abnormal vestibulo-ocular reflex	An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.	UMLS:C4021571	hp.json	Abnormal vestibuloocular reflex	http://purl.obolibrary.org/obo/HP_0007670							
HP:0007675	biolink:PhenotypicFeature	Progressive night blindness		UMLS:C4024818	hp.json	Progressive night blindness	http://purl.obolibrary.org/obo/HP_0007675							
HP:0007676	biolink:PhenotypicFeature	Hypoplasia of the iris	Congenital underdevelopment of the iris.	SNOMEDCT_US:95714006|UMLS:C0344539	hp.json	Underdeveloped iris|Hypoplastic iris|Iris hypoplasia	http://purl.obolibrary.org/obo/HP_0007676							hposlim_core
HP:0007677	biolink:PhenotypicFeature	Vitelliform-like macular lesions	Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.	MSH:D057826|SNOMEDCT_US:90036004|UMLS:C0339510|UMLS:C4024817	hp.json	Vitelliform macular lesions|Vitelliform macular dystrophy	http://purl.obolibrary.org/obo/HP_0007677							
HP:0007678	biolink:PhenotypicFeature	Lacrimal duct stenosis	Narrowing of a tear duct (lacrimal duct).	SNOMEDCT_US:231841004|UMLS:C0238300	hp.json	Narrowing of the tear duct|Nasolacrimal duct stenosis	http://purl.obolibrary.org/obo/HP_0007678							
HP:0007680	biolink:PhenotypicFeature	Depigmented fundus		UMLS:C4024816	hp.json		http://purl.obolibrary.org/obo/HP_0007680							
HP:0007685	biolink:PhenotypicFeature	Peripheral retinal avascularization		UMLS:C1851406	hp.json		http://purl.obolibrary.org/obo/HP_0007685							
HP:0007686	biolink:PhenotypicFeature	Abnormal pupillary function	A functional abnormality of the pupil.	MSH:D011681|SNOMEDCT_US:72124005|UMLS:C0917967	hp.json		http://purl.obolibrary.org/obo/HP_0007686							
HP:0007687	biolink:PhenotypicFeature	Unilateral ptosis	A unilateral form of ptosis.	UMLS:C1866806	hp.json	Dropping of one upper eyelid	http://purl.obolibrary.org/obo/HP_0007687							
HP:0007688	biolink:PhenotypicFeature	Undetectable light- and dark-adapted electroretinogram	Absence of the combined rod-and-cone response on electroretinogram.	UMLS:C4021570	hp.json	Absent cone and rod functions by electroretinogram|Absent rod-and cone-mediated responses on ERG	http://purl.obolibrary.org/obo/HP_0007688							
HP:0007690	biolink:PhenotypicFeature	Map-dot-fingerprint corneal dystrophy		SNOMEDCT_US:32935005|UMLS:C0271285	hp.json		http://purl.obolibrary.org/obo/HP_0007690							
HP:0007691	biolink:PhenotypicFeature	obsolete Short curly eyelashes			hp.json		http://purl.obolibrary.org/obo/HP_0007691							
HP:0007692	biolink:PhenotypicFeature	obsolete Nonnuclear polymorphic congenital cataract			hp.json		http://purl.obolibrary.org/obo/HP_0007692							
HP:0007695	biolink:PhenotypicFeature	Abnormal pupillary light reflex	An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.	UMLS:C1970591	hp.json		http://purl.obolibrary.org/obo/HP_0007695							
HP:0007697	biolink:PhenotypicFeature	Hypoplasia of the lower eyelids	Underdevelopment of the lower eyelid.	UMLS:C4024814|UMLS:C4280270|UMLS:C4280420	hp.json	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							
HP:0007698	biolink:PhenotypicFeature	obsolete Retinal pigment epithelial atrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007698							
HP:0007700	biolink:PhenotypicFeature	Ocular anterior segment dysgenesis	Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.	SNOMEDCT_US:65075004|UMLS:C0266525	hp.json	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							
HP:0007702	biolink:PhenotypicFeature	obsolete Pigmentary retinal deposits			hp.json		http://purl.obolibrary.org/obo/HP_0007702							
HP:0007703	biolink:PhenotypicFeature	Abnormality of retinal pigmentation		SNOMEDCT_US:421689001|UMLS:C1720508|UMLS:C1862475	hp.json	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	biolink:PhenotypicFeature	Paroxysmal involuntary eye movements	Sudden-onset episode of abnormal, involuntary eye movements.	UMLS:C1847515	hp.json	Abnormal eye movements, paroxysmal	http://purl.obolibrary.org/obo/HP_0007704							
HP:0007705	biolink:PhenotypicFeature	Corneal degeneration		SNOMEDCT_US:111521006|UMLS:C0155118	hp.json		http://purl.obolibrary.org/obo/HP_0007705							
HP:0007707	biolink:PhenotypicFeature	Congenital aphakia	Absence of the crystalline lens of the eye as a result of a developmental defect.	MSH:C537786|UMLS:C1853230	hp.json	Lens agenesis	http://purl.obolibrary.org/obo/HP_0007707							
HP:0007708	biolink:PhenotypicFeature	Absent inner eyelashes		UMLS:C4024812	hp.json	Absent inner eyelashes	http://purl.obolibrary.org/obo/HP_0007708							
HP:0007709	biolink:PhenotypicFeature	Band-shaped corneal dystrophy		MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120	hp.json		http://purl.obolibrary.org/obo/HP_0007709							
HP:0007710	biolink:PhenotypicFeature	Peripheral vitreous opacities		UMLS:C4024811	hp.json		http://purl.obolibrary.org/obo/HP_0007710							
HP:0007712	biolink:PhenotypicFeature	obsolete Choroidal dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007712							
HP:0007713	biolink:PhenotypicFeature	obsolete Juvenile zonular cataracts			hp.json		http://purl.obolibrary.org/obo/HP_0007713							
HP:0007715	biolink:PhenotypicFeature	Weak extraocular muscles		UMLS:C1859436	hp.json		http://purl.obolibrary.org/obo/HP_0007715							
HP:0007716	biolink:PhenotypicFeature	Uveal melanoma	A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).	MSH:C536494|NCIT:C3224|UMLS:C0220633	hp.json	Intraocular melanoma	http://purl.obolibrary.org/obo/HP_0007716							
HP:0007717	biolink:PhenotypicFeature	Chronic irritative conjunctivitis	A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.	UMLS:C4024810	hp.json		http://purl.obolibrary.org/obo/HP_0007717							
HP:0007720	biolink:PhenotypicFeature	Flat cornea	Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.	SNOMEDCT_US:204145006|UMLS:C0344529	hp.json	Cornea plana	http://purl.obolibrary.org/obo/HP_0007720							
HP:0007721	biolink:PhenotypicFeature	Saccular conjunctival dilatations	Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.	UMLS:C3277464	hp.json	Saccular conjunctival aneurysms	http://purl.obolibrary.org/obo/HP_0007721							
HP:0007722	biolink:PhenotypicFeature	Retinal pigment epithelial atrophy	Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.	UMLS:C1840457	hp.json		http://purl.obolibrary.org/obo/HP_0007722							
HP:0007727	biolink:PhenotypicFeature	Opacification of the corneal epithelium	Lack of transparency of the corneal epithelium.	UMLS:C1849198	hp.json	Superficial corneal opacities	http://purl.obolibrary.org/obo/HP_0007727							
HP:0007728	biolink:PhenotypicFeature	Congenital miosis	Abnormal (non-physiological) constriction of the pupil of congenital onset.	MSH:C537550|SNOMEDCT_US:400962005|UMLS:C1303009	hp.json		http://purl.obolibrary.org/obo/HP_0007728							
HP:0007730	biolink:PhenotypicFeature	Iris hypopigmentation	An abnormal reduction in the amount of pigmentation of the iris.	SNOMEDCT_US:247032003|SNOMEDCT_US:70397008|UMLS:C0154920	hp.json	Light eye color|Light eye colour|Reduced iris pigmentation	http://purl.obolibrary.org/obo/HP_0007730							
HP:0007731	biolink:PhenotypicFeature	Chorioretinal dysplasia	Abnormal development of the choroid and retina.	UMLS:C4024809	hp.json		http://purl.obolibrary.org/obo/HP_0007731							
HP:0007732	biolink:PhenotypicFeature	Lacrimal gland hypoplasia	Underdevelopment of the lacrimal gland.	UMLS:C1863200	hp.json	Underdeveloped tear gland|Hypoplastic lacrimal gland	http://purl.obolibrary.org/obo/HP_0007732							
HP:0007733	biolink:PhenotypicFeature	Laterally curved eyebrow		UMLS:C1846266	hp.json		http://purl.obolibrary.org/obo/HP_0007733							
HP:0007734	biolink:PhenotypicFeature	Enlarged lacrimal glands	Abnormally big lacrimal glands.	UMLS:C1867030	hp.json	Enlarged tear gland	http://purl.obolibrary.org/obo/HP_0007734							
HP:0007736	biolink:PhenotypicFeature	obsolete Pericentral retinal dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007736							
HP:0007737	biolink:PhenotypicFeature	Bone spicule pigmentation of the retina	Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).	UMLS:C1836926	hp.json	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							
HP:0007738	biolink:PhenotypicFeature	Uncontrolled eye movements		UMLS:C1854686	hp.json		http://purl.obolibrary.org/obo/HP_0007738							
HP:0007739	biolink:PhenotypicFeature	obsolete Mildly reduced visual acuity			hp.json		http://purl.obolibrary.org/obo/HP_0007739							
HP:0007740	biolink:PhenotypicFeature	Long eyelashes in irregular rows		UMLS:C1850640	hp.json	Long eyelashes in irregular rows	http://purl.obolibrary.org/obo/HP_0007740							
HP:0007744	biolink:PhenotypicFeature	obsolete Iridoretinal coloboma			hp.json		http://purl.obolibrary.org/obo/HP_0007744							
HP:0007747	biolink:PhenotypicFeature	Monocular horizontal nystagmus		UMLS:C4024807	hp.json		http://purl.obolibrary.org/obo/HP_0007747							
HP:0007748	biolink:PhenotypicFeature	obsolete Irido-fundal coloboma			hp.json		http://purl.obolibrary.org/obo/HP_0007748							
HP:0007750	biolink:PhenotypicFeature	Hypoplasia of the fovea	Underdevelopment of the fovea centralis.	UMLS:C2673946|UMLS:C4072863	hp.json	Foveal hypoplasia|Dull foveal reflex	http://purl.obolibrary.org/obo/HP_0007750							
HP:0007754	biolink:PhenotypicFeature	Macular dystrophy	Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.	UMLS:C0730292	hp.json		http://purl.obolibrary.org/obo/HP_0007754							hposlim_core
HP:0007755	biolink:PhenotypicFeature	Juvenile epithelial corneal dystrophy		MSH:D053559|SNOMEDCT_US:1674008|UMLS:C0339277	hp.json		http://purl.obolibrary.org/obo/HP_0007755							
HP:0007756	biolink:PhenotypicFeature	obsolete Slitlike anterior chamber angles in children			hp.json		http://purl.obolibrary.org/obo/HP_0007756							
HP:0007757	biolink:PhenotypicFeature	obsolete Hypoplasia of choroid			hp.json		http://purl.obolibrary.org/obo/HP_0007757							
HP:0007758	biolink:PhenotypicFeature	obsolete Congenital visual impairment			hp.json		http://purl.obolibrary.org/obo/HP_0007758							
HP:0007759	biolink:PhenotypicFeature	Opacification of the corneal stroma	Reduced transparency of the stroma of cornea.	SNOMEDCT_US:246957002|UMLS:C0423250|UMLS:C1856661	hp.json	Cloudy cornea|Corneal stromal opacity|Cloudy corneas	http://purl.obolibrary.org/obo/HP_0007759							
HP:0007760	biolink:PhenotypicFeature	Crystalline corneal dystrophy		MSH:C535475|SNOMEDCT_US:39662004|SNOMEDCT_US:419395007|UMLS:C0271287	hp.json		http://purl.obolibrary.org/obo/HP_0007760							
HP:0007761	biolink:PhenotypicFeature	Pericentral scotoma	A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.	SNOMEDCT_US:404650002|UMLS:C1321308	hp.json		http://purl.obolibrary.org/obo/HP_0007761							
HP:0007763	biolink:PhenotypicFeature	Retinal telangiectasia	Dilatation of small blood vessels of the retina.	SNOMEDCT_US:84884003|UMLS:C0154835	hp.json		http://purl.obolibrary.org/obo/HP_0007763							hposlim_core
HP:0007765	biolink:PhenotypicFeature	Deep anterior chamber	Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.	SNOMEDCT_US:246991003|UMLS:C0423280	hp.json		http://purl.obolibrary.org/obo/HP_0007765							
HP:0007766	biolink:PhenotypicFeature	Optic disc hypoplasia	Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.	SNOMEDCT_US:373650004|UMLS:C1298695	hp.json	Hypoplastic optic discs|Hypoplastic optic disks	http://purl.obolibrary.org/obo/HP_0007766							
HP:0007768	biolink:PhenotypicFeature	Central retinal vessel vascular tortuosity	The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).	UMLS:C4021569	hp.json	Tortuosity of main retinal vessels	http://purl.obolibrary.org/obo/HP_0007768							
HP:0007769	biolink:PhenotypicFeature	Peripheral retinal degeneration		SNOMEDCT_US:405721006|SNOMEDCT_US:61536007|UMLS:C1320640	hp.json		http://purl.obolibrary.org/obo/HP_0007769							
HP:0007770	biolink:PhenotypicFeature	Hypoplasia of the retina		UMLS:C1854685	hp.json	Underdeveloped retina|Retinal hypoplasia	http://purl.obolibrary.org/obo/HP_0007770							
HP:0007772	biolink:PhenotypicFeature	Impaired smooth pursuit	An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.	UMLS:C1837458|UMLS:C1848530	hp.json	Abnormality of visual tracking|Impairment of visual pursuit|Abnormal visual pursuit	http://purl.obolibrary.org/obo/HP_0007772							hposlim_core
HP:0007773	biolink:PhenotypicFeature	Vitreoretinopathy	Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.	UMLS:C1850109	hp.json	Vitreoretinal abnormality|Vitreoretinal degeneration	http://purl.obolibrary.org/obo/HP_0007773							
HP:0007774	biolink:PhenotypicFeature	Hypoplasia of the ciliary body	Underdevelopment of the ciliary body.	UMLS:C1836890	hp.json		http://purl.obolibrary.org/obo/HP_0007774							
HP:0007776	biolink:PhenotypicFeature	Sparse lower eyelashes		UMLS:C1835148	hp.json	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	biolink:PhenotypicFeature	Chorioretinal scar	Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.	SNOMEDCT_US:53854005|UMLS:C0008512	hp.json		http://purl.obolibrary.org/obo/HP_0007777							
HP:0007778	biolink:PhenotypicFeature	Posterior retinal neovascularization	A type of retinal neovascularization that affects the posterior pole of the retina.	UMLS:C4024803	hp.json	Neovascularization of peripheral and posterior retina|Posterior retinal neovascularisation	http://purl.obolibrary.org/obo/HP_0007778							
HP:0007779	biolink:PhenotypicFeature	Anterior segment of eye aplasia		UMLS:C1853234	hp.json		http://purl.obolibrary.org/obo/HP_0007779							
HP:0007780	biolink:PhenotypicFeature	Cortical pulverulent cataract	A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.	UMLS:C4021568	hp.json	Cataracts, cortical pulverulent	http://purl.obolibrary.org/obo/HP_0007780							
HP:0007782	biolink:PhenotypicFeature	obsolete Peripheral retinal cone degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0007782							
HP:0007783	biolink:PhenotypicFeature	obsolete Butterfly retinal pigment epithelial dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007783							
HP:0007786	biolink:PhenotypicFeature	obsolete Lacunar retinal depigmentation			hp.json		http://purl.obolibrary.org/obo/HP_0007786							
HP:0007787	biolink:PhenotypicFeature	Posterior subcapsular cataract	A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.	SNOMEDCT_US:315353005|UMLS:C0858617	hp.json	Posterior subcapsular opacities of the lens|Posterior subcapsular cataracts	http://purl.obolibrary.org/obo/HP_0007787							
HP:0007791	biolink:PhenotypicFeature	Patchy atrophy of the retinal pigment epithelium	Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.	UMLS:C4024800	hp.json		http://purl.obolibrary.org/obo/HP_0007791							
HP:0007792	biolink:PhenotypicFeature	Microsaccadic pursuit		UMLS:C1843892	hp.json		http://purl.obolibrary.org/obo/HP_0007792							
HP:0007793	biolink:PhenotypicFeature	Granular macular appearance	Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.	UMLS:C4024799	hp.json	Macular retinal pigment epithelial mottling	http://purl.obolibrary.org/obo/HP_0007793							
HP:0007795	biolink:PhenotypicFeature	Anterior cortical cataract	A cataract that affects the anterior part of the cortex of the lens.	UMLS:C1857308	hp.json		http://purl.obolibrary.org/obo/HP_0007795							
HP:0007797	biolink:PhenotypicFeature	Retinal vascular malformation		UMLS:C1861791	hp.json		http://purl.obolibrary.org/obo/HP_0007797							
HP:0007798	biolink:PhenotypicFeature	obsolete Foveal dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007798							
HP:0007799	biolink:PhenotypicFeature	Conjunctival whitish salt-like deposits	The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.	UMLS:C1968901	hp.json		http://purl.obolibrary.org/obo/HP_0007799							
HP:0007800	biolink:PhenotypicFeature	Increased axial length of the globe	Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.	UMLS:C1835117	hp.json	Increased front to back length of eyeball|Globe elongated|Increased axial globe length	http://purl.obolibrary.org/obo/HP_0007800							
HP:0007801	biolink:PhenotypicFeature	obsolete Fishnet retinal pigmentation			hp.json		http://purl.obolibrary.org/obo/HP_0007801							
HP:0007802	biolink:PhenotypicFeature	Granular corneal dystrophy	The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.	MSH:D003317|SNOMEDCT_US:45283008|UMLS:C0018179	hp.json		http://purl.obolibrary.org/obo/HP_0007802							
HP:0007803	biolink:PhenotypicFeature	Monochromacy	Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.	MSH:C536128|MSH:D003117|SNOMEDCT_US:56852002|UMLS:C0152200|UMLS:C1857618	hp.json	Total colorblindness|Complete achromatopsia	http://purl.obolibrary.org/obo/HP_0007803							
HP:0007807	biolink:PhenotypicFeature	Optic nerve compression		SNOMEDCT_US:72983001|UMLS:C0271344	hp.json		http://purl.obolibrary.org/obo/HP_0007807							
HP:0007808	biolink:PhenotypicFeature	obsolete Bilateral retinal coloboma			hp.json		http://purl.obolibrary.org/obo/HP_0007808							
HP:0007809	biolink:PhenotypicFeature	Punctate corneal dystrophy		UMLS:C4024796	hp.json		http://purl.obolibrary.org/obo/HP_0007809							
HP:0007810	biolink:PhenotypicFeature	obsolete Progressive bifocal chorioretinal atrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007810							
HP:0007811	biolink:PhenotypicFeature	Horizontal pendular nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.	UMLS:C1866180	hp.json		http://purl.obolibrary.org/obo/HP_0007811							
HP:0007812	biolink:PhenotypicFeature	Herpetiform corneal ulceration	The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.	UMLS:C4020911	hp.json	Dendritic corneal epithelial ulcer|Herpetiform corneal ulcers	http://purl.obolibrary.org/obo/HP_0007812							
HP:0007813	biolink:PhenotypicFeature	Nongranulomatous uveitis	A form of uveitis that is not associated with the formation of granulomas.	UMLS:C4024795	hp.json		http://purl.obolibrary.org/obo/HP_0007813							
HP:0007814	biolink:PhenotypicFeature	Retinal pigment epithelial mottling	Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.	UMLS:C1857644	hp.json	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							
HP:0007815	biolink:PhenotypicFeature	Abnormal distribution of retinal arterioles and venules		UMLS:C3277463	hp.json		http://purl.obolibrary.org/obo/HP_0007815							
HP:0007817	biolink:PhenotypicFeature	Horizontal supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.	UMLS:C4024794	hp.json		http://purl.obolibrary.org/obo/HP_0007817							
HP:0007818	biolink:PhenotypicFeature	Central heterochromia	The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.	UMLS:C4021567	hp.json	Ring iris heterochromia	http://purl.obolibrary.org/obo/HP_0007818							
HP:0007819	biolink:PhenotypicFeature	Presenile cataracts	Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.	SNOMEDCT_US:441622000|UMLS:C0154971	hp.json	Presenile cataract	http://purl.obolibrary.org/obo/HP_0007819							
HP:0007820	biolink:PhenotypicFeature	Lacrimal punctal atresia	Congenital absence or closure of the opening of the lacrimal punctum.	UMLS:C1863201	hp.json	Atretic lacrimal puncta|Atretic lacrimal punctum	http://purl.obolibrary.org/obo/HP_0007820							
HP:0007822	biolink:PhenotypicFeature	Central retinal exudate		UMLS:C4024793	hp.json		http://purl.obolibrary.org/obo/HP_0007822							
HP:0007824	biolink:PhenotypicFeature	Total ophthalmoplegia	Paralysis of both the extrinsic and intrinsic ocular muscles.	SNOMEDCT_US:78097002|UMLS:C0155338	hp.json	Complete ophthalmoplegia|Global paralysis of gaze|Total internal and external ophthalmoplegia	http://purl.obolibrary.org/obo/HP_0007824							
HP:0007825	biolink:PhenotypicFeature	obsolete Cataracts develop in second or third decade			hp.json		http://purl.obolibrary.org/obo/HP_0007825							
HP:0007827	biolink:PhenotypicFeature	Nodular corneal dystrophy		UMLS:C4024792	hp.json		http://purl.obolibrary.org/obo/HP_0007827							
HP:0007829	biolink:PhenotypicFeature	obsolete Diffuse retinal cone degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0007829							
HP:0007830	biolink:PhenotypicFeature	Adult-onset night blindness	Inability to see well at night or in poor light with onset in adulthood.	UMLS:C4024790	hp.json	Adult-onset night blindness	http://purl.obolibrary.org/obo/HP_0007830							
HP:0007831	biolink:PhenotypicFeature	Nonprogressive restrictive external ophthalmoplegia	Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.	UMLS:C4024789	hp.json		http://purl.obolibrary.org/obo/HP_0007831							
HP:0007832	biolink:PhenotypicFeature	Pigmentation of the sclera		UMLS:C1859882	hp.json	Pigmentation of the outer white part of the eyeball	http://purl.obolibrary.org/obo/HP_0007832							
HP:0007833	biolink:PhenotypicFeature	Anterior chamber synechiae		UMLS:C4024788	hp.json		http://purl.obolibrary.org/obo/HP_0007833							
HP:0007834	biolink:PhenotypicFeature	Progressive cataract	A kind of cataract that progresses with age.	UMLS:C4021566	hp.json	Cataract, progressive	http://purl.obolibrary.org/obo/HP_0007834							
HP:0007835	biolink:PhenotypicFeature	S-shaped palpebral fissures		UMLS:C4024787	hp.json	S-shaped eyes|S-shaped opening between the eyelids	http://purl.obolibrary.org/obo/HP_0007835							
HP:0007836	biolink:PhenotypicFeature	Mosaic corneal dystrophy		UMLS:C4024786	hp.json		http://purl.obolibrary.org/obo/HP_0007836							
HP:0007838	biolink:PhenotypicFeature	Progressive ptosis	A progressive form of ptosis.	UMLS:C1834015	hp.json	Progressive drooping of upper eyelid	http://purl.obolibrary.org/obo/HP_0007838							
HP:0007840	biolink:PhenotypicFeature	Long upper eyelashes	Increased length of the upper eyelashes.	UMLS:C4024785	hp.json	Increased length of upper eyelashes|Long upper eyelashes|Ciliary trichomegaly of upper eyelashes	http://purl.obolibrary.org/obo/HP_0007840							
HP:0007841	biolink:PhenotypicFeature	Amyloid deposition in the vitreous humor	Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.	UMLS:C4024784	hp.json	Amyloid deposition in the vitreous humour|Vitreous amyloid deposits	http://purl.obolibrary.org/obo/HP_0007841							
HP:0007843	biolink:PhenotypicFeature	Attenuation of retinal blood vessels		UMLS:C3278975	hp.json	Narrowing of blood vessels in back of eye	http://purl.obolibrary.org/obo/HP_0007843							
HP:0007850	biolink:PhenotypicFeature	Retinal vascular proliferation		MSH:D015861|SNOMEDCT_US:61267008|UMLS:C0035320	hp.json		http://purl.obolibrary.org/obo/HP_0007850							
HP:0007851	biolink:PhenotypicFeature	obsolete Temporal displacement of maculae			hp.json		http://purl.obolibrary.org/obo/HP_0007851							
HP:0007852	biolink:PhenotypicFeature	obsolete Pericentral pigmentary retinopathy			hp.json		http://purl.obolibrary.org/obo/HP_0007852							
HP:0007854	biolink:PhenotypicFeature	Glaucomatous visual field defect		SNOMEDCT_US:370961005|UMLS:C1299694	hp.json		http://purl.obolibrary.org/obo/HP_0007854							
HP:0007856	biolink:PhenotypicFeature	Punctate opacification of the cornea	Punctate opacification (reduced transparency) of the corneal stroma.	UMLS:C4021565	hp.json	Punctate corneal opacities	http://purl.obolibrary.org/obo/HP_0007856							
HP:0007858	biolink:PhenotypicFeature	Chorioretinal lacunae	Punched out lesions in the pigmented layer of the retina.	UMLS:C1844751|UMLS:C4072866	hp.json	Lacunar retinal depigmentation	http://purl.obolibrary.org/obo/HP_0007858							hposlim_core
HP:0007859	biolink:PhenotypicFeature	Congenital horizontal nystagmus	Horizontal nystagmus dating from or present at birth.	UMLS:C1866180	hp.json	Nystagmus, congenital horizontal	http://purl.obolibrary.org/obo/HP_0007859							
HP:0007862	biolink:PhenotypicFeature	Retinal calcification	Deposition of calcium salts in the retina.	UMLS:C1867289	hp.json		http://purl.obolibrary.org/obo/HP_0007862							
HP:0007866	biolink:PhenotypicFeature	Retinal infarction		UMLS:C0281967	hp.json		http://purl.obolibrary.org/obo/HP_0007866							
HP:0007867	biolink:PhenotypicFeature	Restrictive partial external ophthalmoplegia	Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.	UMLS:C4024781	hp.json		http://purl.obolibrary.org/obo/HP_0007867							
HP:0007868	biolink:PhenotypicFeature	obsolete Age-related macular degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0007868							
HP:0007869	biolink:PhenotypicFeature	obsolete Peripheral retinopathy			hp.json		http://purl.obolibrary.org/obo/HP_0007869							
HP:0007872	biolink:PhenotypicFeature	Choroidal hemangioma	The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.	NCIT:C3086|SNOMEDCT_US:255022003|UMLS:C0346390	hp.json		http://purl.obolibrary.org/obo/HP_0007872							
HP:0007873	biolink:PhenotypicFeature	Abnormally prominent line of Schwalbe		UMLS:C1862376	hp.json	Prominent Schwalbe lines	http://purl.obolibrary.org/obo/HP_0007873							
HP:0007874	biolink:PhenotypicFeature	Almond-shaped palpebral fissure	A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.	UMLS:C4024780	hp.json	Almond shaped eyes|Almond-shaped opening between the eyelids	http://purl.obolibrary.org/obo/HP_0007874							hposlim_core
HP:0007875	biolink:PhenotypicFeature	Congenital blindness	Blindness with onset at birth.	SNOMEDCT_US:95486002|UMLS:C0005754	hp.json	Blindness present at birth|Congenital amaurosis	http://purl.obolibrary.org/obo/HP_0007875							
HP:0007876	biolink:PhenotypicFeature	obsolete Juvenile cortical cataract			hp.json		http://purl.obolibrary.org/obo/HP_0007876							
HP:0007879	biolink:PhenotypicFeature	Allergic conjunctivitis	Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.	MSH:D003233|SNOMEDCT_US:231854006|SNOMEDCT_US:473460002|UMLS:C0009766	hp.json		http://purl.obolibrary.org/obo/HP_0007879							
HP:0007880	biolink:PhenotypicFeature	Marginal corneal dystrophy		UMLS:C4024779	hp.json		http://purl.obolibrary.org/obo/HP_0007880							
HP:0007881	biolink:PhenotypicFeature	Central corneal dystrophy		UMLS:C4024778	hp.json		http://purl.obolibrary.org/obo/HP_0007881							
HP:0007885	biolink:PhenotypicFeature	Slowed horizontal saccades	An abnormally slow velocity of horizontal saccadic eye movements.	UMLS:C1856477	hp.json		http://purl.obolibrary.org/obo/HP_0007885							
HP:0007886	biolink:PhenotypicFeature	Absent extraocular muscles	Congenital absence of the extraocular muscles.	UMLS:C1408781|UMLS:C4024777	hp.json	Missing eye muscles|Absent ocular muscles	http://purl.obolibrary.org/obo/HP_0007886							
HP:0007889	biolink:PhenotypicFeature	Iridescent posterior subcapsular cataract	A type of posterior subcapsular cataract characterized by an iridescent color.	UMLS:C1864573	hp.json	Cataracts, posterior, subcapsular, iridescent	http://purl.obolibrary.org/obo/HP_0007889							
HP:0007892	biolink:PhenotypicFeature	Hypoplasia of the lacrimal punctum	Underdevelopment of the lacrimal puncta.	UMLS:C4021564	hp.json	Hypoplasia of the lacrimal puncta|Hypoplastic lacrimal puncta	http://purl.obolibrary.org/obo/HP_0007892							
HP:0007893	biolink:PhenotypicFeature	obsolete Progressive retinal degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0007893							
HP:0007894	biolink:PhenotypicFeature	Hypopigmentation of the fundus	Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).	SNOMEDCT_US:95694000|UMLS:C0151891	hp.json	Decreased fundus pigmentation|Fundus hypopigmentation	http://purl.obolibrary.org/obo/HP_0007894							
HP:0007898	biolink:PhenotypicFeature	Exudative retinopathy		MSH:D058456|SNOMEDCT_US:25506007|SNOMEDCT_US:360455002|UMLS:C0154832	hp.json		http://purl.obolibrary.org/obo/HP_0007898							
HP:0007899	biolink:PhenotypicFeature	Retinal nonattachment	Failure of attachment of the retina during development.	UMLS:C4021563	hp.json	Congenital retinal non-attachment	http://purl.obolibrary.org/obo/HP_0007899							
HP:0007900	biolink:PhenotypicFeature	Hypoplastic lacrimal duct		UMLS:C1968574	hp.json	Underdeveloped tear duct	http://purl.obolibrary.org/obo/HP_0007900							
HP:0007901	biolink:PhenotypicFeature	obsolete Retinal malformation			hp.json		http://purl.obolibrary.org/obo/HP_0007901							
HP:0007902	biolink:PhenotypicFeature	Vitreous hemorrhage	Bleeding within the vitreous compartment of the eye.	MSH:D014823|SNOMEDCT_US:31341008|UMLS:C0042909	hp.json	Vitreous haemorrhage	http://purl.obolibrary.org/obo/HP_0007902							hposlim_core
HP:0007903	biolink:PhenotypicFeature	Paravenous chorioretinal atrophy	Chorioretinal atrophy along the retinal veins.	UMLS:C4072868	hp.json		http://purl.obolibrary.org/obo/HP_0007903							
HP:0007905	biolink:PhenotypicFeature	Abnormal iris vasculature		UMLS:C3275963	hp.json	Abnormality of iris blood vessels	http://purl.obolibrary.org/obo/HP_0007905							
HP:0007906	biolink:PhenotypicFeature	Ocular hypertension	Intraocular pressure that is 2 standard deviations above the population mean.	SNOMEDCT_US:112222000|UMLS:C0234708	hp.json	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							
HP:0007910	biolink:PhenotypicFeature	obsolete Nonprogressive congenital retinal dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007910							
HP:0007911	biolink:PhenotypicFeature	Congenital bilateral ptosis		UMLS:C1836264	hp.json	Congenital drooping of both upper eyelids|Ptosis, bilateral congenital|Ptosis, congenital bilateral	http://purl.obolibrary.org/obo/HP_0007911							
HP:0007913	biolink:PhenotypicFeature	Reticular retinal dystrophy	A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.	UMLS:C4024776	hp.json		http://purl.obolibrary.org/obo/HP_0007913							
HP:0007915	biolink:PhenotypicFeature	Polymorphous posterior corneal dystrophy	This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.	MSH:C562745|SNOMEDCT_US:29504002|UMLS:C0339284	hp.json		http://purl.obolibrary.org/obo/HP_0007915							
HP:0007916	biolink:PhenotypicFeature	obsolete Small anterior lens surface opacities			hp.json		http://purl.obolibrary.org/obo/HP_0007916							
HP:0007917	biolink:PhenotypicFeature	Tractional retinal detachment	A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.	UMLS:C1866178	hp.json		http://purl.obolibrary.org/obo/HP_0007917							
HP:0007920	biolink:PhenotypicFeature	obsolete Congenital chorioretinal dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007920							
HP:0007922	biolink:PhenotypicFeature	Hypermyelinated retinal nerve fibers		UMLS:C1849151	hp.json	Hypermyelinated retinal nerve fibres|Retinal striation	http://purl.obolibrary.org/obo/HP_0007922							
HP:0007923	biolink:PhenotypicFeature	obsolete Foveal hyperplasia			hp.json		http://purl.obolibrary.org/obo/HP_0007923							
HP:0007924	biolink:PhenotypicFeature	Slow decrease in visual acuity		UMLS:C1853141|UMLS:C3278981	hp.json	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	biolink:PhenotypicFeature	Lacrimal duct aplasia	A congenital defect resulting in absence of the lacrimal duct.	UMLS:C4024773	hp.json	Absent tear duct	http://purl.obolibrary.org/obo/HP_0007925							
HP:0007928	biolink:PhenotypicFeature	Abnormal flash visual evoked potentials	Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.	UMLS:C4024772	hp.json		http://purl.obolibrary.org/obo/HP_0007928							
HP:0007929	biolink:PhenotypicFeature	Peripheral retinal detachment	Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.	UMLS:C4024771	hp.json		http://purl.obolibrary.org/obo/HP_0007929							
HP:0007930	biolink:PhenotypicFeature	obsolete Prominent epicanthal folds			hp.json		http://purl.obolibrary.org/obo/HP_0007930							
HP:0007932	biolink:PhenotypicFeature	Bilateral congenital mydriasis	Congenital abnormal dilation of the pupil on both sides.	UMLS:C4024770	hp.json		http://purl.obolibrary.org/obo/HP_0007932							
HP:0007933	biolink:PhenotypicFeature	Broad lateral eyebrow	Regional increase in the width (height) of the lateral eyebrow.	UMLS:C1837733	hp.json	Wide lateral eyebrow	http://purl.obolibrary.org/obo/HP_0007933							
HP:0007935	biolink:PhenotypicFeature	Juvenile posterior subcapsular lenticular opacities		UMLS:C1863408	hp.json		http://purl.obolibrary.org/obo/HP_0007935							
HP:0007936	biolink:PhenotypicFeature	Restrictive external ophthalmoplegia	Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.	UMLS:C1865918|UMLS:C4020806	hp.json	Restrictive ophthalmoplegia|Restrictive external ophthalmoplegia, bilateral	http://purl.obolibrary.org/obo/HP_0007936							
HP:0007937	biolink:PhenotypicFeature	Reticular pigmentary degeneration	A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.	UMLS:C4024769	hp.json	Fishnet retinal pigmentation|Honeycomb retinal degeneration	http://purl.obolibrary.org/obo/HP_0007937							
HP:0007939	biolink:PhenotypicFeature	Blue cone monochromacy	A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.	MSH:C536238|SNOMEDCT_US:24704003|UMLS:C0339537	hp.json	Blue cone monochromatism|Incomplete achromatopsia|S-cone monochromacy	http://purl.obolibrary.org/obo/HP_0007939							
HP:0007941	biolink:PhenotypicFeature	Limited extraocular movements		UMLS:C1858427	hp.json	Limited extraocular movement	http://purl.obolibrary.org/obo/HP_0007941							
HP:0007942	biolink:PhenotypicFeature	Internal ophthalmoplegia	Paralysis of the iris and ciliary apparatus.	MSH:D009886|SNOMEDCT_US:232146005|UMLS:C0339693	hp.json		http://purl.obolibrary.org/obo/HP_0007942							
HP:0007943	biolink:PhenotypicFeature	Congenital stapes ankylosis	A form of stapes ankylosis with congenital onset.	UMLS:C1866657	hp.json		http://purl.obolibrary.org/obo/HP_0007943							
HP:0007944	biolink:PhenotypicFeature	Intermittent microsaccadic pursuits		UMLS:C4024768	hp.json		http://purl.obolibrary.org/obo/HP_0007944							
HP:0007945	biolink:PhenotypicFeature	obsolete Choroidal degeneration			hp.json		http://purl.obolibrary.org/obo/HP_0007945							
HP:0007946	biolink:PhenotypicFeature	Unilateral narrow palpebral fissure	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.	UMLS:C1866805|UMLS:C4280419	hp.json	Unequal size of opening between the eyelids|Narrow palpebral fissure, unilateral	http://purl.obolibrary.org/obo/HP_0007946							
HP:0007947	biolink:PhenotypicFeature	Pericentral retinitis pigmentosa	A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.	MSH:C564838|UMLS:C1849398	hp.json		http://purl.obolibrary.org/obo/HP_0007947							
HP:0007948	biolink:PhenotypicFeature	Dense posterior cortical cataract	A type of posterior cortical cataract characterized by dense lenticular opacities.	UMLS:C4024767	hp.json		http://purl.obolibrary.org/obo/HP_0007948							
HP:0007949	biolink:PhenotypicFeature	obsolete Progressive macular scarring			hp.json		http://purl.obolibrary.org/obo/HP_0007949							
HP:0007950	biolink:PhenotypicFeature	Peripapillary chorioretinal atrophy	Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).	UMLS:C4024765	hp.json		http://purl.obolibrary.org/obo/HP_0007950							
HP:0007956	biolink:PhenotypicFeature	obsolete Bilateral choroid coloboma			hp.json		http://purl.obolibrary.org/obo/HP_0007956							
HP:0007957	biolink:PhenotypicFeature	Corneal opacity	A reduction of corneal clarity.	MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:64634000|SNOMEDCT_US:95735008|UMLS:C0010038|UMLS:C0521719	hp.json	Corneal clouding|Corneal opacities|Reduction of corneal clarity|Scarring or clouding of the cornea of the eye	http://purl.obolibrary.org/obo/HP_0007957							hposlim_core
HP:0007958	biolink:PhenotypicFeature	Optic atrophy from cranial nerve compression		UMLS:C4024763	hp.json		http://purl.obolibrary.org/obo/HP_0007958							
HP:0007961	biolink:PhenotypicFeature	obsolete Rarefaction of retinal pigmentation			hp.json		http://purl.obolibrary.org/obo/HP_0007961							
HP:0007962	biolink:PhenotypicFeature	Speckled corneal dystrophy		UMLS:C4021857	hp.json		http://purl.obolibrary.org/obo/HP_0007962							
HP:0007963	biolink:PhenotypicFeature	Pattern dystrophy of the retina	A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).	UMLS:C4024762	hp.json		http://purl.obolibrary.org/obo/HP_0007963							
HP:0007964	biolink:PhenotypicFeature	Degenerative vitreoretinopathy		UMLS:C1843486	hp.json		http://purl.obolibrary.org/obo/HP_0007964							
HP:0007965	biolink:PhenotypicFeature	Undetectable visual evoked potentials		UMLS:C1850069	hp.json	Absence of visual evoked potentials|Non-detectable VEP|Undetectable VEP	http://purl.obolibrary.org/obo/HP_0007965							
HP:0007968	biolink:PhenotypicFeature	Remnants of the hyaloid vascular system	Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.	MSH:D054514|SNOMEDCT_US:314270008|SNOMEDCT_US:44647001|SNOMEDCT_US:69927002|UMLS:C0266568	hp.json	Persistent foetal vasculature|Persistent posterior foetal fibrovascular sheath of the lens|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							hposlim_core
HP:0007970	biolink:PhenotypicFeature	Congenital ptosis		SNOMEDCT_US:268163008|SNOMEDCT_US:61989004|UMLS:C0266573	hp.json	Congenital drooping upper eyelid	http://purl.obolibrary.org/obo/HP_0007970							
HP:0007971	biolink:PhenotypicFeature	Lamellar cataract	A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.	SNOMEDCT_US:204128001|SNOMEDCT_US:21590003|UMLS:C0266537	hp.json		http://purl.obolibrary.org/obo/HP_0007971							
HP:0007973	biolink:PhenotypicFeature	Retinal dysplasia	The presence of developmental dysplasia of the retina.	MSH:D015792|SNOMEDCT_US:95494009|UMLS:C0035313	hp.json	Retinal dysgenesis	http://purl.obolibrary.org/obo/HP_0007973							hposlim_core
HP:0007975	biolink:PhenotypicFeature	Hypometric horizontal saccades	Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.	UMLS:C1856478	hp.json		http://purl.obolibrary.org/obo/HP_0007975							
HP:0007976	biolink:PhenotypicFeature	Cerulean cataract	Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.	MSH:C537955|SNOMEDCT_US:204138006|UMLS:C0344523	hp.json	Cataracts, congenital, cerulean	http://purl.obolibrary.org/obo/HP_0007976							
HP:0007979	biolink:PhenotypicFeature	Gaze-evoked horizontal nystagmus	Horizontal nystagmus made apparent by looking to the right or to the left.	UMLS:C1853394	hp.json	Nystagmus, horizontal, gaze-evoked|Nystagmus, horizontal gaze-evoked	http://purl.obolibrary.org/obo/HP_0007979							
HP:0007980	biolink:PhenotypicFeature	Absent retinal pigment epithelium		UMLS:C1852548	hp.json		http://purl.obolibrary.org/obo/HP_0007980							
HP:0007981	biolink:PhenotypicFeature	obsolete Concentric narrowing of visual field			hp.json		http://purl.obolibrary.org/obo/HP_0007981							
HP:0007982	biolink:PhenotypicFeature	obsolete Central tapetoretinal dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0007982							
HP:0007984	biolink:PhenotypicFeature	Electronegative electroretinogram	A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).	UMLS:C4021561	hp.json	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							
HP:0007985	biolink:PhenotypicFeature	Retinal arteriolar occlusion	Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.	UMLS:C4024761	hp.json	Blocked retinal artery	http://purl.obolibrary.org/obo/HP_0007985							
HP:0007986	biolink:PhenotypicFeature	Increased retinal vascularity		UMLS:C1847882	hp.json		http://purl.obolibrary.org/obo/HP_0007986							
HP:0007987	biolink:PhenotypicFeature	Progressive visual field defects		UMLS:C4024760	hp.json		http://purl.obolibrary.org/obo/HP_0007987							
HP:0007988	biolink:PhenotypicFeature	Macular hypopigmentation	Decreased amount of pigmentation in the macula lutea.	UMLS:C4024759	hp.json		http://purl.obolibrary.org/obo/HP_0007988							
HP:0007989	biolink:PhenotypicFeature	Intraretinal exudate	Retinal exudate within the retinal tissue itself.	UMLS:C4024758	hp.json		http://purl.obolibrary.org/obo/HP_0007989							
HP:0007990	biolink:PhenotypicFeature	Hypoplastic iris stroma	Underdevelopment of the stroma of iris.	UMLS:C1860344	hp.json	Hypoplastic iris stoma|Iris stromal hypoplasia|Underdeveloped iris stroma	http://purl.obolibrary.org/obo/HP_0007990							
HP:0007992	biolink:PhenotypicFeature	Lattice retinal degeneration		SNOMEDCT_US:3577000|UMLS:C0154856	hp.json		http://purl.obolibrary.org/obo/HP_0007992							
HP:0007993	biolink:PhenotypicFeature	Malformed lacrimal duct	Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.	UMLS:C4024757	hp.json	Malformed tear ducts	http://purl.obolibrary.org/obo/HP_0007993							
HP:0007994	biolink:PhenotypicFeature	Peripheral visual field loss	Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.	SNOMEDCT_US:420990001|UMLS:C0241688|UMLS:C2937228	hp.json	Loss of peripheral vision|Tunnel vision|Kalnienk vision	http://purl.obolibrary.org/obo/HP_0007994							
HP:0008000	biolink:PhenotypicFeature	Decreased corneal reflex	An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.	MSH:D012021|SNOMEDCT_US:103254005|UMLS:C0151572	hp.json	Decreased blink reflex|Reduced corneal reflex	http://purl.obolibrary.org/obo/HP_0008000							
HP:0008001	biolink:PhenotypicFeature	Foveal hyperpigmentation	Increased amount of pigmentation in the fovea centralis.	UMLS:C3809301	hp.json		http://purl.obolibrary.org/obo/HP_0008001							
HP:0008002	biolink:PhenotypicFeature	Abnormality of macular pigmentation	Abnormality of macular or foveal pigmentation.	UMLS:C1837087|UMLS:C4024756	hp.json	Macular pigmentary changes	http://purl.obolibrary.org/obo/HP_0008002							hposlim_core
HP:0008003	biolink:PhenotypicFeature	Jerky ocular pursuit movements		UMLS:C1853558	hp.json	Jerky smooth pursuit	http://purl.obolibrary.org/obo/HP_0008003							
HP:0008005	biolink:PhenotypicFeature	Congenital corneal dystrophy		UMLS:C1611195	hp.json		http://purl.obolibrary.org/obo/HP_0008005							
HP:0008007	biolink:PhenotypicFeature	Primary congenital glaucoma		SNOMEDCT_US:415176004|UMLS:C1533041	hp.json		http://purl.obolibrary.org/obo/HP_0008007							
HP:0008008	biolink:PhenotypicFeature	obsolete Progressive central visual loss			hp.json		http://purl.obolibrary.org/obo/HP_0008008							
HP:0008009	biolink:PhenotypicFeature	Three rows of eyelashes		UMLS:C1860785	hp.json	Three rows of eyelashes|Triple row of eyelashes	http://purl.obolibrary.org/obo/HP_0008009							
HP:0008011	biolink:PhenotypicFeature	Peripheral opacification of the cornea	Reduced transparency of the peripheral region of the cornea.	SNOMEDCT_US:55713007|UMLS:C0155100	hp.json	Peripheral corneal opacity	http://purl.obolibrary.org/obo/HP_0008011							
HP:0008012	biolink:PhenotypicFeature	obsolete Congenital myopia			hp.json		http://purl.obolibrary.org/obo/HP_0008012							
HP:0008014	biolink:PhenotypicFeature	Central fundal arteriolar microaneurysms	Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.	UMLS:C4024755	hp.json		http://purl.obolibrary.org/obo/HP_0008014							
HP:0008017	biolink:PhenotypicFeature	obsolete Depigmented lesions of the retinal pigment epithelium			hp.json		http://purl.obolibrary.org/obo/HP_0008017							
HP:0008019	biolink:PhenotypicFeature	Superior lens subluxation	Partial dislocation of the lens in a superior direction.	UMLS:C2036843	hp.json	Superior subluxated lens	http://purl.obolibrary.org/obo/HP_0008019							
HP:0008020	biolink:PhenotypicFeature	Cone dystrophy	Inherited progressive cone degeneration.	UMLS:C0730290|UMLS:C3665342	hp.json	Progressive cone degeneration|Progressive cone dystrophy	http://purl.obolibrary.org/obo/HP_0008020							
HP:0008024	biolink:PhenotypicFeature	obsolete Congenital nuclear cataract			hp.json		http://purl.obolibrary.org/obo/HP_0008024							
HP:0008026	biolink:PhenotypicFeature	Horizontal opticokinetic nystagmus		UMLS:C4024754	hp.json		http://purl.obolibrary.org/obo/HP_0008026							
HP:0008028	biolink:PhenotypicFeature	Cystoid macular degeneration	A form of macular degeneration characterized by the presence of multiple cysts in the macula.	SNOMEDCT_US:14046000|UMLS:C0154850	hp.json	Cystic macular degeneration	http://purl.obolibrary.org/obo/HP_0008028							
HP:0008030	biolink:PhenotypicFeature	Retinal arteritis		SNOMEDCT_US:11255009|UMLS:C0271069	hp.json		http://purl.obolibrary.org/obo/HP_0008030							
HP:0008031	biolink:PhenotypicFeature	Posterior Y-sutural cataract	A type of sutural cataract in which the opacity follows the posterior Y suture.	UMLS:C4021560	hp.json	Posterior Y-sutural cataracts	http://purl.obolibrary.org/obo/HP_0008031							
HP:0008033	biolink:PhenotypicFeature	obsolete Congenital exotropia			hp.json		http://purl.obolibrary.org/obo/HP_0008033							
HP:0008034	biolink:PhenotypicFeature	Abnormal iris pigmentation	Abnormal pigmentation of the iris.	UMLS:C1834387	hp.json		http://purl.obolibrary.org/obo/HP_0008034							hposlim_core
HP:0008035	biolink:PhenotypicFeature	Retinitis pigmentosa inversa	Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).	UMLS:C4021559	hp.json	Central retinitis pigmentosa	http://purl.obolibrary.org/obo/HP_0008035							
HP:0008036	biolink:PhenotypicFeature	obsolete Rod-cone dystrophy			hp.json		http://purl.obolibrary.org/obo/HP_0008036							
HP:0008037	biolink:PhenotypicFeature	Absent anterior chamber of the eye	Absence of the anterior chamber of the eye owing to a developmental defect.	SNOMEDCT_US:404675003|SNOMEDCT_US:55457007|UMLS:C0271004	hp.json		http://purl.obolibrary.org/obo/HP_0008037							
HP:0008038	biolink:PhenotypicFeature	Aplastic/hypoplastic lacrimal glands	Absence or underdevelopment of the lacrimal gland.	UMLS:C1835602	hp.json	Absent/underdeveloped tear glands|Absent/underdeveloped lacrimal glands	http://purl.obolibrary.org/obo/HP_0008038							
HP:0008039	biolink:PhenotypicFeature	Subepithelial corneal opacities		UMLS:C1857307	hp.json		http://purl.obolibrary.org/obo/HP_0008039							
HP:0008041	biolink:PhenotypicFeature	Late onset congenital glaucoma		UMLS:C1856441	hp.json		http://purl.obolibrary.org/obo/HP_0008041							
HP:0008043	biolink:PhenotypicFeature	Retinal arteriolar constriction	Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.	UMLS:C2176208	hp.json	Constricted retinal arterioles|Narrow retinal arterioles|Retinal arteriolar narrowing	http://purl.obolibrary.org/obo/HP_0008043							
HP:0008045	biolink:PhenotypicFeature	Enlarged flash visual evoked potentials		UMLS:C4021558	hp.json	High flash visual evoked potentials	http://purl.obolibrary.org/obo/HP_0008045							
HP:0008046	biolink:PhenotypicFeature	Abnormal retinal vascular morphology	A structural abnormality of retinal vasculature.	UMLS:C4024753	hp.json	Abnormality of retina blood vessels|Abnormality of the retinal vasculature	http://purl.obolibrary.org/obo/HP_0008046							
HP:0008047	biolink:PhenotypicFeature	Abnormality of the vasculature of the eye		UMLS:C4024752	hp.json	Abnormality of eye blood vessels	http://purl.obolibrary.org/obo/HP_0008047							
HP:0008048	biolink:PhenotypicFeature	Abnormality of the line of Schwalbe	An abnormality of the line of Schwalbe.	UMLS:C4021856	hp.json		http://purl.obolibrary.org/obo/HP_0008048							
HP:0008049	biolink:PhenotypicFeature	Abnormality of the extraocular muscles	An abnormality of an extraocular muscle.	UMLS:C4024751	hp.json		http://purl.obolibrary.org/obo/HP_0008049							
HP:0008050	biolink:PhenotypicFeature	Abnormality of the palpebral fissures	An anomaly of the space between the medial and lateral canthi of the two open eyelids.	UMLS:C4024750	hp.json	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							
HP:0008051	biolink:PhenotypicFeature	obsolete Abnormality of the retinal pigment epithelium			hp.json		http://purl.obolibrary.org/obo/HP_0008051							
HP:0008052	biolink:PhenotypicFeature	Retinal fold	A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.	SNOMEDCT_US:37480005|UMLS:C0229197	hp.json	Retinal folds	http://purl.obolibrary.org/obo/HP_0008052							
HP:0008053	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the iris	Absence or underdevelopment of the iris.	UMLS:C4024748	hp.json	Absent/small iris|Absent/underdeveloped iris	http://purl.obolibrary.org/obo/HP_0008053							
HP:0008054	biolink:PhenotypicFeature	Abnormal morphology of the conjunctival vasculature	Any abnormality of the blood vessels of the conjunctiva.	UMLS:C4024747	hp.json	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							
HP:0008055	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the uvea	Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.	UMLS:C4024746	hp.json	Absent/underdeveloped uvea	http://purl.obolibrary.org/obo/HP_0008055							
HP:0008056	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the eye		UMLS:C4024745	hp.json	Absent/small eye|Absent/underdeveloped eye	http://purl.obolibrary.org/obo/HP_0008056							
HP:0008057	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the fundus		UMLS:C4024744	hp.json	Absent/small fundus	http://purl.obolibrary.org/obo/HP_0008057							
HP:0008058	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the optic nerve		UMLS:C4024743	hp.json	Absent/small optic nerve|Absent/underdeveloped optic nerve	http://purl.obolibrary.org/obo/HP_0008058							
HP:0008059	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the macula		UMLS:C4024742	hp.json	Absent/underdeveloped macula	http://purl.obolibrary.org/obo/HP_0008059							
HP:0008060	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the fovea	Congenital absence or underdevelopment of the fovea centralis.	UMLS:C4024741	hp.json	Absent/underdeveloped fovea	http://purl.obolibrary.org/obo/HP_0008060							
HP:0008061	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the retina		UMLS:C4024740	hp.json	Absent/small retina|Absent/underdeveloped retina	http://purl.obolibrary.org/obo/HP_0008061							
HP:0008062	biolink:PhenotypicFeature	Aplasia/Hypoplasia affecting the anterior segment of the eye	Absence or underdevelopment of the anterior segment of the eye.	UMLS:C4024739	hp.json		http://purl.obolibrary.org/obo/HP_0008062							
HP:0008063	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the lens	Absence or underdevelopment of the lens.	UMLS:C4024738	hp.json	Absent/small lens|Absent/underdeveloped lens	http://purl.obolibrary.org/obo/HP_0008063							
HP:0008064	biolink:PhenotypicFeature	Ichthyosis	An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.	MEDDRA:10021198|MSH:D007057|UMLS:C0020757	hp.json	Ichthyosiform abnormality of the skin|Ichthyotic skin|Hypertrophic ichthyosis	http://purl.obolibrary.org/obo/HP_0008064							hposlim_core
HP:0008065	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the skin		UMLS:C4024737	hp.json	Absent/small skin|Absent/underdeveloped skin	http://purl.obolibrary.org/obo/HP_0008065							
HP:0008066	biolink:PhenotypicFeature	Abnormal blistering of the skin	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.	UMLS:C0241054|UMLS:C2132198|UMLS:C2220104	hp.json	Abnormal blistering of the skin|Blistering, generalized|Blisters|Blistering, generalised|Skin blisters|Blister|Skin bullae	http://purl.obolibrary.org/obo/HP_0008066							
HP:0008067	biolink:PhenotypicFeature	Abnormally lax or hyperextensible skin		UMLS:C4024736	hp.json	Abnormally loose or hyperelastic skin|Abnormally loose or stretchable skin	http://purl.obolibrary.org/obo/HP_0008067							
HP:0008069	biolink:PhenotypicFeature	Neoplasm of the skin	A tumor (abnormal growth of tissue) of the skin.	MSH:D012878|NCIT:C3262|SNOMEDCT_US:126488004|SNOMEDCT_US:372130007|UMLS:C0007114|UMLS:C0037286	hp.json	Skin cancer (non-melanoma)|Skin tumors|Tumor of the skin|Dermatological tumours|Skin tumours|Tumour of the skin|Skin cancer|Dermatological tumors|Neoplasia of the skin	http://purl.obolibrary.org/obo/HP_0008069							hposlim_core
HP:0008070	biolink:PhenotypicFeature	Sparse hair	Reduced density of hairs.	MEDDRA:10021126|MSH:D007039|SNOMEDCT_US:53602002|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1837770|UMLS:C1860844	hp.json	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							hposlim_core
HP:0008071	biolink:PhenotypicFeature	Maternal hypertension	Increased blood pressure during a pregnancy.	SNOMEDCT_US:288250001|UMLS:C0565599	hp.json		http://purl.obolibrary.org/obo/HP_0008071							
HP:0008072	biolink:PhenotypicFeature	Maternal virilization in pregnancy	Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.	UMLS:C4024735	hp.json		http://purl.obolibrary.org/obo/HP_0008072							
HP:0008073	biolink:PhenotypicFeature	Low maternal serum estriol	An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.	UMLS:C4024734	hp.json	Low maternal serum estriol	http://purl.obolibrary.org/obo/HP_0008073							
HP:0008074	biolink:PhenotypicFeature	Metatarsal periosteal thickening		UMLS:C1834349	hp.json		http://purl.obolibrary.org/obo/HP_0008074							
HP:0008075	biolink:PhenotypicFeature	Progressive pes cavus	The development of Pes cavus that is progressive with age.	UMLS:C1846017	hp.json		http://purl.obolibrary.org/obo/HP_0008075							
HP:0008076	biolink:PhenotypicFeature	Osteoporotic tarsals	Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	UMLS:C1836872	hp.json		http://purl.obolibrary.org/obo/HP_0008076							
HP:0008078	biolink:PhenotypicFeature	Thin metatarsal cortices		UMLS:C1850162	hp.json		http://purl.obolibrary.org/obo/HP_0008078							
HP:0008079	biolink:PhenotypicFeature	Absent fifth metatarsal	A developmental abnormality characterized by the absence of the fifth metatarsal bone.	UMLS:C1867932	hp.json	Absent 5th long bone of foot|Absent 5th metatarsals|Aplasia of the fifth metatarsal bone	http://purl.obolibrary.org/obo/HP_0008079							
HP:0008080	biolink:PhenotypicFeature	Hallux varus	Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.	MSH:D050488|SNOMEDCT_US:274147008|UMLS:C0546297	hp.json	Medially deviated halluces	http://purl.obolibrary.org/obo/HP_0008080							
HP:0008081	biolink:PhenotypicFeature	Pes valgus	An outward deviation of the foot at the talocalcaneal or subtalar joint.	SNOMEDCT_US:249803006|SNOMEDCT_US:275344002|UMLS:C1578482	hp.json	Valgus foot deformity	http://purl.obolibrary.org/obo/HP_0008081							
HP:0008082	biolink:PhenotypicFeature	Medial deviation of the foot		UMLS:C2673401	hp.json		http://purl.obolibrary.org/obo/HP_0008082							
HP:0008083	biolink:PhenotypicFeature	2nd-5th toe middle phalangeal hypoplasia		UMLS:C1861376	hp.json	Underdeveloped 2nd-5th middle toe bones	http://purl.obolibrary.org/obo/HP_0008083							
HP:0008087	biolink:PhenotypicFeature	Nonossified fifth metatarsal	The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.	UMLS:C1844712	hp.json		http://purl.obolibrary.org/obo/HP_0008087							
HP:0008089	biolink:PhenotypicFeature	Abnormality of the fifth metatarsal bone	An anomaly of the fifth metatarsal bone.	UMLS:C4024733	hp.json	Abnormality of the 5th long bone of foot	http://purl.obolibrary.org/obo/HP_0008089							
HP:0008090	biolink:PhenotypicFeature	Ankylosis of feet small joints		UMLS:C4024732	hp.json		http://purl.obolibrary.org/obo/HP_0008090							
HP:0008093	biolink:PhenotypicFeature	Short 4th toe	Underdevelopment (hypoplasia) of the fourth toe.	UMLS:C1862083	hp.json	Short 4th toe|Short fourth toe	http://purl.obolibrary.org/obo/HP_0008093							
HP:0008094	biolink:PhenotypicFeature	Widely spaced toes	An overall widening of the spaces between the digits.	UMLS:C1969238	hp.json	Widely spaced toes	http://purl.obolibrary.org/obo/HP_0008094							
HP:0008095	biolink:PhenotypicFeature	Osteolysis of talus	Osteolysis affecting the talus.	UMLS:C4021556	hp.json	Osteolysis of tali	http://purl.obolibrary.org/obo/HP_0008095							
HP:0008096	biolink:PhenotypicFeature	Medially deviated second toe	Medial deviation of the second toe.	UMLS:C1862147	hp.json		http://purl.obolibrary.org/obo/HP_0008096							
HP:0008097	biolink:PhenotypicFeature	Partial fusion of tarsals		UMLS:C1844520	hp.json		http://purl.obolibrary.org/obo/HP_0008097							
HP:0008102	biolink:PhenotypicFeature	Expanded metatarsals with widened medullary cavities		UMLS:C1969289	hp.json		http://purl.obolibrary.org/obo/HP_0008102							
HP:0008103	biolink:PhenotypicFeature	Delayed tarsal ossification	Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	UMLS:C1846853|UMLS:C4280418	hp.json	Delayed ankle bone maturation|Tarsal delayed ossification	http://purl.obolibrary.org/obo/HP_0008103							
HP:0008107	biolink:PhenotypicFeature	Plantar crease between first and second toes	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.	UMLS:C1867132	hp.json		http://purl.obolibrary.org/obo/HP_0008107							
HP:0008108	biolink:PhenotypicFeature	Advanced tarsal ossification	Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	UMLS:C1849293|UMLS:C4280417	hp.json	Accelerated ankle bone maturation|Precociously ossified tarsal bones	http://purl.obolibrary.org/obo/HP_0008108							
HP:0008110	biolink:PhenotypicFeature	Equinovarus deformity		MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081	hp.json		http://purl.obolibrary.org/obo/HP_0008110							
HP:0008111	biolink:PhenotypicFeature	Broad distal hallux		UMLS:C1863403	hp.json	Broad distal big toe	http://purl.obolibrary.org/obo/HP_0008111							
HP:0008112	biolink:PhenotypicFeature	Plantar flexion contractures		UMLS:C1861239	hp.json		http://purl.obolibrary.org/obo/HP_0008112							
HP:0008113	biolink:PhenotypicFeature	Multiple plantar creases		UMLS:C1861873	hp.json		http://purl.obolibrary.org/obo/HP_0008113							
HP:0008114	biolink:PhenotypicFeature	Metatarsal diaphyseal endosteal sclerosis	Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.	UMLS:C1840420	hp.json		http://purl.obolibrary.org/obo/HP_0008114							
HP:0008115	biolink:PhenotypicFeature	Clinodactyly of the 3rd toe	Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).	UMLS:C4021555|UMLS:C4280416	hp.json	Curvature of 3rd toe|3rd toe clinodactyly	http://purl.obolibrary.org/obo/HP_0008115							
HP:0008116	biolink:PhenotypicFeature	Flexion limitation of toes	Limitation of the ability to bend the toes.	UMLS:C4024731	hp.json		http://purl.obolibrary.org/obo/HP_0008116							
HP:0008117	biolink:PhenotypicFeature	Shortening of the talar neck		UMLS:C1843985	hp.json		http://purl.obolibrary.org/obo/HP_0008117							
HP:0008119	biolink:PhenotypicFeature	Deformed tarsal bones		UMLS:C1856746	hp.json	Deformed ankle bones	http://purl.obolibrary.org/obo/HP_0008119							
HP:0008122	biolink:PhenotypicFeature	Calcaneonavicular fusion	Synostosis of the calcaneus with the navicular bone.	UMLS:C4024730	hp.json		http://purl.obolibrary.org/obo/HP_0008122							
HP:0008124	biolink:PhenotypicFeature	Talipes calcaneovarus	A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.	MSH:D000070558|SNOMEDCT_US:30449003|UMLS:C0265646	hp.json		http://purl.obolibrary.org/obo/HP_0008124							
HP:0008125	biolink:PhenotypicFeature	Second metatarsal posteriorly placed		UMLS:C1859224	hp.json		http://purl.obolibrary.org/obo/HP_0008125							
HP:0008127	biolink:PhenotypicFeature	Bipartite calcaneus	A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.	UMLS:C1835574	hp.json	Delayed coalescence of calcaneal ossification centres|Double calcaneal ossification centre|Extra calcaneal ossification centre|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							
HP:0008131	biolink:PhenotypicFeature	Tarsal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.	UMLS:C1844848	hp.json	Punctate calcifications of tarsals|Punctate tarsal calcification	http://purl.obolibrary.org/obo/HP_0008131							
HP:0008132	biolink:PhenotypicFeature	Medial rotation of the medial malleolus		UMLS:C3805726	hp.json		http://purl.obolibrary.org/obo/HP_0008132							
HP:0008133	biolink:PhenotypicFeature	Distal tapering of metatarsals		UMLS:C4024729	hp.json		http://purl.obolibrary.org/obo/HP_0008133							
HP:0008134	biolink:PhenotypicFeature	Irregular tarsal ossification	Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	UMLS:C4021554|UMLS:C4280415	hp.json	Irregular tarsal centres|Irregular ankle bone maturation|Irregular tarsal centers	http://purl.obolibrary.org/obo/HP_0008134							
HP:0008138	biolink:PhenotypicFeature	Equinus calcaneus	Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.	UMLS:C1860449	hp.json	Equinus deformity of the calcaneus|Hindfoot equinus	http://purl.obolibrary.org/obo/HP_0008138							
HP:0008141	biolink:PhenotypicFeature	Dislocation of toes		SNOMEDCT_US:263030002|UMLS:C0434717	hp.json	Dislocation of toes	http://purl.obolibrary.org/obo/HP_0008141							
HP:0008142	biolink:PhenotypicFeature	Delayed calcaneal ossification	Delayed maturation and calcification of the calcaneus.	UMLS:C4024728|UMLS:C4280414	hp.json	Delayed heel bone maturation	http://purl.obolibrary.org/obo/HP_0008142							
HP:0008144	biolink:PhenotypicFeature	Flattening of the talar dome		UMLS:C1843986	hp.json		http://purl.obolibrary.org/obo/HP_0008144							
HP:0008148	biolink:PhenotypicFeature	Impaired epinephrine-induced platelet aggregation	Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.	UMLS:C4024727	hp.json		http://purl.obolibrary.org/obo/HP_0008148							
HP:0008150	biolink:PhenotypicFeature	Elevated serum transaminases during infections	Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.	UMLS:C1864179	hp.json		http://purl.obolibrary.org/obo/HP_0008150							
HP:0008151	biolink:PhenotypicFeature	Prolonged prothrombin time	Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.	SNOMEDCT_US:409674002|UMLS:C0151872	hp.json	Increased INR|Prolonged PT|Increased international normalised ratio|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							
HP:0008153	biolink:PhenotypicFeature	Periodic hypokalemic paresis	Episodes of muscle weakness associated with reduced levels of potassium in the blood.	UMLS:C4021553	hp.json	Hypokalemic periodic paresis	http://purl.obolibrary.org/obo/HP_0008153							
HP:0008155	biolink:PhenotypicFeature	Mucopolysacchariduria	Excessive amounts of mucopolysaccharide in the urine.	UMLS:C4024726	hp.json		http://purl.obolibrary.org/obo/HP_0008155							
HP:0008158	biolink:PhenotypicFeature	Hyperapobetalipoproteinemia	Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.	MSH:D006950|SNOMEDCT_US:238040008|SNOMEDCT_US:299465007|UMLS:C0020474	hp.json		http://purl.obolibrary.org/obo/HP_0008158							
HP:0008160	biolink:PhenotypicFeature	3-hydroxydicarboxylic aciduria	An increase in the level of 3-hydroxydicarboxylic acid in the urine.	UMLS:C4024725	hp.json		http://purl.obolibrary.org/obo/HP_0008160							
HP:0008161	biolink:PhenotypicFeature	Absent leukocyte alkaline phosphatase	Alkaline phosphatase levels measured within leukocytes is below detectable levels.	UMLS:C4024724	hp.json	Absent leukocyte ALP	http://purl.obolibrary.org/obo/HP_0008161							
HP:0008162	biolink:PhenotypicFeature	Asymptomatic hyperammonemia	An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.	UMLS:C4021552	hp.json	Hyperammonemia, asymptomatic	http://purl.obolibrary.org/obo/HP_0008162							
HP:0008163	biolink:PhenotypicFeature	Decreased circulating cortisol level	Abnormally reduced concentration of cortisol in the blood.	UMLS:C1833054|UMLS:C1836623|UMLS:C1846225	hp.json	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							
HP:0008165	biolink:PhenotypicFeature	Decreased helper T cell proportion	Reduced proportion of helper T cells relative to the total number of T cells.	UMLS:C4024723	hp.json	Decreased proportion circulating T-helper cells|Reduced helper T cell proportion	http://purl.obolibrary.org/obo/HP_0008165							
HP:0008166	biolink:PhenotypicFeature	Decreased beta-galactosidase activity	Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.	MSH:D016537|SNOMEDCT_US:238025006|UMLS:C0085131|UMLS:C1854788|UMLS:C1856559	hp.json	Beta-galactosidase deficiency in fibroblasts and white blood cells|Beta-galactosidase-1 deficiency|Decreased beta galactosidase activity	http://purl.obolibrary.org/obo/HP_0008166							
HP:0008167	biolink:PhenotypicFeature	Very long chain fatty acid accumulation		UMLS:C3279397	hp.json		http://purl.obolibrary.org/obo/HP_0008167							
HP:0008169	biolink:PhenotypicFeature	Reduced factor VII activity	Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.	MSH:D005168|SNOMEDCT_US:37193007|UMLS:C0015503|UMLS:C4024722	hp.json	Factor VII deficiency	http://purl.obolibrary.org/obo/HP_0008169							
HP:0008176	biolink:PhenotypicFeature	Neonatal unconjugated hyperbilirubinemia		SNOMEDCT_US:281611002|UMLS:C0559506	hp.json		http://purl.obolibrary.org/obo/HP_0008176							
HP:0008178	biolink:PhenotypicFeature	Abnormal cartilage matrix		UMLS:C4024721	hp.json		http://purl.obolibrary.org/obo/HP_0008178							
HP:0008179	biolink:PhenotypicFeature	Decreased Arden ratio of electrooculogram	An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.	UMLS:C4024720	hp.json	Decreased Arden ratio of EOG	http://purl.obolibrary.org/obo/HP_0008179							
HP:0008180	biolink:PhenotypicFeature	Mildly elevated creatine kinase		UMLS:C1850309	hp.json	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	biolink:PhenotypicFeature	Abetalipoproteinemia	An absence of low-density lipoprotein cholesterol in the blood.	MSH:D000012|SNOMEDCT_US:190787008|UMLS:C0000744	hp.json		http://purl.obolibrary.org/obo/HP_0008181							
HP:0008182	biolink:PhenotypicFeature	Adrenocortical hypoplasia		UMLS:C4024719	hp.json	Small adrenal cortex	http://purl.obolibrary.org/obo/HP_0008182							
HP:0008185	biolink:PhenotypicFeature	Precocious puberty in males	The onset of puberty before the age of 9 years in boys.	UMLS:C1859979	hp.json	Early onset of puberty in males|Male precocious puberty	http://purl.obolibrary.org/obo/HP_0008185							
HP:0008186	biolink:PhenotypicFeature	Adrenocortical cytomegaly	The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.	UMLS:C1851720	hp.json		http://purl.obolibrary.org/obo/HP_0008186							
HP:0008187	biolink:PhenotypicFeature	Absence of secondary sex characteristics	No secondary sexual characteristics are present at puberty.	UMLS:C4021551	hp.json	No secondary sexual characteristics at puberty	http://purl.obolibrary.org/obo/HP_0008187							
HP:0008188	biolink:PhenotypicFeature	Thyroid dysgenesis		MSH:D050033|UMLS:C1563716	hp.json	Thyroid dysplasia	http://purl.obolibrary.org/obo/HP_0008188							
HP:0008189	biolink:PhenotypicFeature	Insulin insensitivity	Decreased sensitivity toward insulin.	UMLS:C1864570	hp.json		http://purl.obolibrary.org/obo/HP_0008189							
HP:0008191	biolink:PhenotypicFeature	Thyroid agenesis	The congenital absence of the thyroid gland.	MSH:D050033|UMLS:C0749420|UMLS:C4020805	hp.json	Athyroidal hypothyroidism	http://purl.obolibrary.org/obo/HP_0008191							
HP:0008193	biolink:PhenotypicFeature	Primary gonadal insufficiency		UMLS:C1859014	hp.json		http://purl.obolibrary.org/obo/HP_0008193							
HP:0008194	biolink:PhenotypicFeature	Multiple pancreatic beta-cell adenomas	The presence of multiple pancreatic islet cell adenomas.	UMLS:C4024718	hp.json		http://purl.obolibrary.org/obo/HP_0008194							
HP:0008197	biolink:PhenotypicFeature	Absence of pubertal development		UMLS:C1846228	hp.json		http://purl.obolibrary.org/obo/HP_0008197							
HP:0008198	biolink:PhenotypicFeature	Congenital hypoparathyroidism	Deficiency of parathyroid hormone with congenital onset.	UMLS:C1455734	hp.json	Neonatal hypoparathyroidism	http://purl.obolibrary.org/obo/HP_0008198							
HP:0008200	biolink:PhenotypicFeature	Primary hyperparathyroidism	A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.	MSH:D049950|SNOMEDCT_US:36348003|UMLS:C0221002	hp.json		http://purl.obolibrary.org/obo/HP_0008200							
HP:0008202	biolink:PhenotypicFeature	Reduced circulating prolactin concentration	A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.	MSH:C562708|SNOMEDCT_US:67873006|UMLS:C0271586	hp.json	Prolactin deficiency	http://purl.obolibrary.org/obo/HP_0008202							
HP:0008204	biolink:PhenotypicFeature	Precocious puberty with Sertoli cell tumor		UMLS:C1868007	hp.json	Precocious puberty with Sertoli cell tumour	http://purl.obolibrary.org/obo/HP_0008204							
HP:0008205	biolink:PhenotypicFeature	Insulin-dependent but ketosis-resistant diabetes	Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.	UMLS:C1842404	hp.json		http://purl.obolibrary.org/obo/HP_0008205							
HP:0008207	biolink:PhenotypicFeature	Primary adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.	MSH:D000224|SNOMEDCT_US:363732003|SNOMEDCT_US:373662000|SNOMEDCT_US:386584007|UMLS:C0001403|UMLS:C0405580	hp.json	Adrenocortical insufficiency|Primary adrenocortical failure|Addison disease|Addison's disease	http://purl.obolibrary.org/obo/HP_0008207							
HP:0008208	biolink:PhenotypicFeature	Parathyroid hyperplasia	Hyperplasia of the parathyroid gland.	SNOMEDCT_US:9092004|UMLS:C0271844	hp.json	Enlarged parathyroid glands	http://purl.obolibrary.org/obo/HP_0008208							
HP:0008209	biolink:PhenotypicFeature	Premature ovarian insufficiency	Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.	MSH:D008594|MSH:D016649|SNOMEDCT_US:373717006|UMLS:C0025322|UMLS:C0085215	hp.json	Early menopause|Premature menopause|Premature ovarian failure|Climacterium praecox|Hypergonadotropic amenorrhea|Menopause praecox|Primary ovarian insufficiency	http://purl.obolibrary.org/obo/HP_0008209							
HP:0008211	biolink:PhenotypicFeature	Parathyroid agenesis	Aplasia of the parathyroid gland.	MSH:C563238|SNOMEDCT_US:73291005|UMLS:C1321907	hp.json	Parathyroid absence|Parathyroid aplasia	http://purl.obolibrary.org/obo/HP_0008211							
HP:0008213	biolink:PhenotypicFeature	Gonadotropin deficiency	A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).	MSH:D007006|SNOMEDCT_US:33927004|UMLS:C0271623	hp.json	Pituitary gonadotropin deficiency	http://purl.obolibrary.org/obo/HP_0008213							
HP:0008214	biolink:PhenotypicFeature	Decreased serum estradiol	A reduction below normal concentration of estradiol in the circulation.	SNOMEDCT_US:166449002|UMLS:C0241011	hp.json	Decreased serum estradiol	http://purl.obolibrary.org/obo/HP_0008214							
HP:0008216	biolink:PhenotypicFeature	Adrenal gland dysgenesis	Abnormal development of the adrenal gland.	UMLS:C1856017	hp.json	Adrenal gland dysplasia|Dysplastic adrenal glands	http://purl.obolibrary.org/obo/HP_0008216							
HP:0008221	biolink:PhenotypicFeature	Adrenal hyperplasia	Enlargement of the adrenal gland.	SNOMEDCT_US:419920004|UMLS:C1621895	hp.json	Enlarged adrenal glands	http://purl.obolibrary.org/obo/HP_0008221							
HP:0008222	biolink:PhenotypicFeature	Female infertility		MSH:D007247|SNOMEDCT_US:6738008|UMLS:C0021361	hp.json	Female infertility	http://purl.obolibrary.org/obo/HP_0008222							
HP:0008223	biolink:PhenotypicFeature	Compensated hypothyroidism	Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).	SNOMEDCT_US:237523006|UMLS:C0342162	hp.json	Mild hypothyroidism|Subclinical hypothyroidism	http://purl.obolibrary.org/obo/HP_0008223							
HP:0008225	biolink:PhenotypicFeature	Thyroid follicular hyperplasia		UMLS:C1969546	hp.json		http://purl.obolibrary.org/obo/HP_0008225							
HP:0008226	biolink:PhenotypicFeature	Androgen insufficiency	Insufficient amount of androgenic activity.	SNOMEDCT_US:38825009|UMLS:C0342527	hp.json	Hypoandrogenism	http://purl.obolibrary.org/obo/HP_0008226							
HP:0008227	biolink:PhenotypicFeature	Pituitary resistance to thyroid hormone	A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.	SNOMEDCT_US:360348000|SNOMEDCT_US:360353005|UMLS:C0342198	hp.json		http://purl.obolibrary.org/obo/HP_0008227							
HP:0008229	biolink:PhenotypicFeature	Thyroid lymphangiectasia	The presence of lymphangiectasis of the thyroid gland.	UMLS:C1856129	hp.json	Thyroid lymphangiectasis	http://purl.obolibrary.org/obo/HP_0008229							
HP:0008230	biolink:PhenotypicFeature	obsolete Decreased testosterone in males			hp.json		http://purl.obolibrary.org/obo/HP_0008230							
HP:0008231	biolink:PhenotypicFeature	Macronodular adrenal hyperplasia		SNOMEDCT_US:237778003|UMLS:C0342495	hp.json		http://purl.obolibrary.org/obo/HP_0008231							
HP:0008232	biolink:PhenotypicFeature	Elevated circulating follicle stimulating hormone level	An elevated concentration of follicle-stimulating hormone in the blood.	UMLS:C4021550	hp.json	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							
HP:0008233	biolink:PhenotypicFeature	Decreased circulating progesterone	An reduced concentration of progesterone in the blood.	UMLS:C1858995	hp.json	Decreased serum progesterone	http://purl.obolibrary.org/obo/HP_0008233							
HP:0008236	biolink:PhenotypicFeature	Isosexual precocious puberty		SNOMEDCT_US:4294006|UMLS:C0271528	hp.json		http://purl.obolibrary.org/obo/HP_0008236							
HP:0008237	biolink:PhenotypicFeature	Hypothalamic hypothyroidism	A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.	SNOMEDCT_US:37429009|UMLS:C0220998	hp.json	Tertiary hypothyroidism	http://purl.obolibrary.org/obo/HP_0008237							
HP:0008239	biolink:PhenotypicFeature	Adrenal medullary hypoplasia	Developmental hypoplasia of the adrenal medulla.	UMLS:C4024717	hp.json	Small adrenal medulla	http://purl.obolibrary.org/obo/HP_0008239							
HP:0008240	biolink:PhenotypicFeature	Secondary growth hormone deficiency		UMLS:C4024716	hp.json		http://purl.obolibrary.org/obo/HP_0008240							
HP:0008242	biolink:PhenotypicFeature	Pseudohypoaldosteronism	A state of renal tubular unresponsiveness or resistance to the action of aldosterone.	MSH:D011546|SNOMEDCT_US:77098009|UMLS:C0033805	hp.json		http://purl.obolibrary.org/obo/HP_0008242							
HP:0008244	biolink:PhenotypicFeature	Congenital adrenal hypoplasia	A type of adrenal hypoplasia with congenital onset.	SNOMEDCT_US:93235007|UMLS:C0220766	hp.json	Congenital adrenal gland hypoplasia	http://purl.obolibrary.org/obo/HP_0008244							
HP:0008245	biolink:PhenotypicFeature	Pituitary hypothyroidism	A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.	SNOMEDCT_US:82598004|UMLS:C3665349	hp.json	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							
HP:0008247	biolink:PhenotypicFeature	Euthyroid hyperthyroxinemia	An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.	UMLS:C4021549	hp.json	Asymptomatic hyperthyroxinemia	http://purl.obolibrary.org/obo/HP_0008247							
HP:0008249	biolink:PhenotypicFeature	Thyroid hyperplasia	Hyperplasia of the thyroid gland.	UMLS:C1112776	hp.json	Large thyroid	http://purl.obolibrary.org/obo/HP_0008249							
HP:0008250	biolink:PhenotypicFeature	Infantile hypercalcemia		MSH:C562999|SNOMEDCT_US:276645004|UMLS:C0475732	hp.json		http://purl.obolibrary.org/obo/HP_0008250							
HP:0008251	biolink:PhenotypicFeature	Congenital goiter	An enlargement of the thyroid gland with congenital onset.	SNOMEDCT_US:276565004|UMLS:C0349476	hp.json	Congenital goitre	http://purl.obolibrary.org/obo/HP_0008251							
HP:0008255	biolink:PhenotypicFeature	Transient neonatal diabetes mellitus		SNOMEDCT_US:237603002|UMLS:C0342273	hp.json		http://purl.obolibrary.org/obo/HP_0008255							
HP:0008256	biolink:PhenotypicFeature	Adrenocortical adenoma	Adrenocortical adenomas are benign tumors of the adrenal cortex.	MSH:D018246|SNOMEDCT_US:18365006|SNOMEDCT_US:255036008|SNOMEDCT_US:302826002|UMLS:C0206667	hp.json	Adrenocortical adenomas	http://purl.obolibrary.org/obo/HP_0008256							
HP:0008258	biolink:PhenotypicFeature	Congenital adrenal hyperplasia	A type of adrenal hyperplasia with congenital onset.	MSH:D000312|SNOMEDCT_US:237751000|UMLS:C0001627	hp.json		http://purl.obolibrary.org/obo/HP_0008258							
HP:0008259	biolink:PhenotypicFeature	Adrenocorticotropin receptor defect	Adrenal insufficiency secondary to a defect in the ACTH receptor.	UMLS:C4021548	hp.json	ACTH receptor defect|ACTHR defect|Adrenocorticotropic hormone-resistant adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0008259							
HP:0008261	biolink:PhenotypicFeature	Pancreatic islet cell adenoma	The presence of an adenoma of the pancreas with origin in a pancreatic B cell.	UMLS:C1851697	hp.json		http://purl.obolibrary.org/obo/HP_0008261							
HP:0008263	biolink:PhenotypicFeature	Thyroid defect in oxidation and organification of iodide		UMLS:C1848800	hp.json		http://purl.obolibrary.org/obo/HP_0008263							
HP:0008264	biolink:PhenotypicFeature	Neutrophil inclusion bodies	The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.	UMLS:C4021547	hp.json		http://purl.obolibrary.org/obo/HP_0008264							
HP:0008265	biolink:PhenotypicFeature	Mitochondrial lysine transport defect		UMLS:C4024715	hp.json		http://purl.obolibrary.org/obo/HP_0008265							
HP:0008269	biolink:PhenotypicFeature	Increased red cell hemolysis by shear stress		UMLS:C3806125	hp.json		http://purl.obolibrary.org/obo/HP_0008269							
HP:0008271	biolink:PhenotypicFeature	Abnormal cartilage collagen	Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.	UMLS:C4020803|UMLS:C4020804|UMLS:C4021847	hp.json	Abnormal hyaline collagen|Abnormal type II collagen	http://purl.obolibrary.org/obo/HP_0008271							
HP:0008272	biolink:PhenotypicFeature	Renal tubular lysine transport defect		UMLS:C4024714	hp.json		http://purl.obolibrary.org/obo/HP_0008272							
HP:0008273	biolink:PhenotypicFeature	Transient aminoaciduria		UMLS:C4024713	hp.json		http://purl.obolibrary.org/obo/HP_0008273							
HP:0008275	biolink:PhenotypicFeature	Abnormal light-adapted electroretinogram		UMLS:C4024712	hp.json	Abnormal cone-mediated electroretinogram	http://purl.obolibrary.org/obo/HP_0008275							
HP:0008277	biolink:PhenotypicFeature	Abnormal blood zinc concentration	An abnormality of zinc ion homeostasis.	UMLS:C4020802|UMLS:C4024711	hp.json	Abnormality of zinc homeostasis|Abnormal zinc metabolism	http://purl.obolibrary.org/obo/HP_0008277							
HP:0008278	biolink:PhenotypicFeature	Cerebellar cortical atrophy	Atrophy (wasting) of the cerebellar cortex.	UMLS:C4024710	hp.json	Cerebellar cortex degeneration	http://purl.obolibrary.org/obo/HP_0008278							
HP:0008279	biolink:PhenotypicFeature	Transient hyperlipidemia		UMLS:C1850722	hp.json		http://purl.obolibrary.org/obo/HP_0008279							
HP:0008281	biolink:PhenotypicFeature	Acute hyperammonemia	An increased concentration of ammonia in the blood with sudden onset.	UMLS:C1859506	hp.json	Hyperammonemia, acute	http://purl.obolibrary.org/obo/HP_0008281							
HP:0008282	biolink:PhenotypicFeature	Unconjugated hyperbilirubinemia	An increased amount of unconjugated (indirect) bilurubin in the blood.	SNOMEDCT_US:7752002|UMLS:C0268306	hp.json		http://purl.obolibrary.org/obo/HP_0008282							
HP:0008283	biolink:PhenotypicFeature	Fasting hyperinsulinemia	An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.	UMLS:C1864954	hp.json	High blood insulin levels while fasting	http://purl.obolibrary.org/obo/HP_0008283							
HP:0008285	biolink:PhenotypicFeature	Transient hypophosphatemia		UMLS:C4024709	hp.json		http://purl.obolibrary.org/obo/HP_0008285							
HP:0008288	biolink:PhenotypicFeature	Nonketotic hyperglycinemia		MSH:D020158|SNOMEDCT_US:237939006|UMLS:C0751748	hp.json		http://purl.obolibrary.org/obo/HP_0008288							
HP:0008290	biolink:PhenotypicFeature	Partial complement factor H deficiency	A partial reduction in level of the complement component Factor H in circulation.	UMLS:C4024708	hp.json		http://purl.obolibrary.org/obo/HP_0008290							
HP:0008291	biolink:PhenotypicFeature	Pituitary corticotropic cell adenoma	A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).	MSH:D049913|SNOMEDCT_US:21109002|SNOMEDCT_US:254958004|UMLS:C1306214	hp.json	ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma	http://purl.obolibrary.org/obo/HP_0008291							
HP:0008293	biolink:PhenotypicFeature	Long-chain dicarboxylic aciduria	An increase in the level of long-chain dicarboxylic acid in the urine.	UMLS:C1837273	hp.json		http://purl.obolibrary.org/obo/HP_0008293							
HP:0008297	biolink:PhenotypicFeature	Transient hyperphenylalaninemia	A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).	SNOMEDCT_US:28575006|UMLS:C0268464	hp.json		http://purl.obolibrary.org/obo/HP_0008297							
HP:0008301	biolink:PhenotypicFeature	Dermatan sulfate excretion in urine	An increased concentration of dermatan sulfate in the urine.	UMLS:C1854774	hp.json	Dermatan sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0008301							
HP:0008303	biolink:PhenotypicFeature	Olivary degeneration	Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.	UMLS:C4024707	hp.json		http://purl.obolibrary.org/obo/HP_0008303							
HP:0008305	biolink:PhenotypicFeature	Exercise-induced myoglobinuria	Presence of myoglobin in the urine following exercise.	UMLS:C1845155|UMLS:C1860069	hp.json	Exercise-induced myoglobinuria in adults	http://purl.obolibrary.org/obo/HP_0008305							
HP:0008306	biolink:PhenotypicFeature	Abnormal iron deposition in mitochondria		UMLS:C3151556	hp.json		http://purl.obolibrary.org/obo/HP_0008306							
HP:0008309	biolink:PhenotypicFeature	Medium chain dicarboxylic aciduria	An increase in the level of medium chain dicarboxylic acid in the urine.	UMLS:C1860081	hp.json		http://purl.obolibrary.org/obo/HP_0008309							
HP:0008311	biolink:PhenotypicFeature	Spinal cord posterior columns myelin loss		UMLS:C4024706	hp.json		http://purl.obolibrary.org/obo/HP_0008311							
HP:0008314	biolink:PhenotypicFeature	Decreased activity of mitochondrial complex II	A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.	UMLS:C4020801|UMLS:C4024705	hp.json	Respiratory complex II deficiency	http://purl.obolibrary.org/obo/HP_0008314							
HP:0008315	biolink:PhenotypicFeature	Decreased plasma free carnitine	A decreased concentration of free (unbound) carnitine in the blood.	UMLS:C4015009	hp.json		http://purl.obolibrary.org/obo/HP_0008315							
HP:0008316	biolink:PhenotypicFeature	Abnormal mitochondria in muscle tissue	An abnormality of the mitochondria in muscle tissue.	UMLS:C4021546	hp.json	Abnormal mitochondria in muscle	http://purl.obolibrary.org/obo/HP_0008316							
HP:0008318	biolink:PhenotypicFeature	Elevated leukocyte alkaline phosphatase	Increased alkaline phosphatase measured within leukocytes.	UMLS:C4024704	hp.json	Elevated leukocyte ALP	http://purl.obolibrary.org/obo/HP_0008318							
HP:0008320	biolink:PhenotypicFeature	Impaired collagen-induced platelet aggregation	Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.	UMLS:C4024703	hp.json		http://purl.obolibrary.org/obo/HP_0008320							
HP:0008321	biolink:PhenotypicFeature	Reduced factor X activity	Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).	MSH:D005171|SNOMEDCT_US:76642003|UMLS:C0015519|UMLS:C4024702	hp.json	Decreased factor x activity|Factor X deficiency	http://purl.obolibrary.org/obo/HP_0008321							
HP:0008322	biolink:PhenotypicFeature	Abnormal mitochondrial morphology	Any structural anomaly of the mitochondria.	UMLS:C4014650	hp.json	Abnormal mitochondrion morphology	http://purl.obolibrary.org/obo/HP_0008322							
HP:0008323	biolink:PhenotypicFeature	Abnormal light- and dark-adapted electroretinogram	An abnormality of the combined rod-and-cone response on electroretinogram.	UMLS:C3151111	hp.json	Abnormal rod and cone electroretinogram	http://purl.obolibrary.org/obo/HP_0008323							
HP:0008326	biolink:PhenotypicFeature	Reduced circulating vitamin B6 level	An abnormally decreased concentration of vitamin B6 in the blood circulation.	MSH:D026681|SNOMEDCT_US:386080007|UMLS:C0936215	hp.json	Reduced vitamin b6 levels|Vitamin B6 deficiency	http://purl.obolibrary.org/obo/HP_0008326							
HP:0008327	biolink:PhenotypicFeature	Microscopic nephrocalcinosis	The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.	SNOMEDCT_US:236444003|UMLS:C0403474	hp.json		http://purl.obolibrary.org/obo/HP_0008327							
HP:0008330	biolink:PhenotypicFeature	Reduced von Willebrand factor activity	Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.	UMLS:C4024701	hp.json	Decreased von willebrand factor activity	http://purl.obolibrary.org/obo/HP_0008330							
HP:0008331	biolink:PhenotypicFeature	Elevated creatine kinase after exercise		UMLS:C4024700	hp.json	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	biolink:PhenotypicFeature	obsolete Renal aminoaciduria		MSH:D000608|UMLS:C0002534	hp.json		http://purl.obolibrary.org/obo/HP_0008335							
HP:0008336	biolink:PhenotypicFeature	Complex organic aciduria		UMLS:C3151953	hp.json		http://purl.obolibrary.org/obo/HP_0008336							
HP:0008338	biolink:PhenotypicFeature	Partial functional complement factor D deficiency	A partial reduction in level of the complement component Factor D in circulation.	UMLS:C4024699	hp.json	Partial functional adipsin deficiency|Partial functional factor d deficiency	http://purl.obolibrary.org/obo/HP_0008338							
HP:0008339	biolink:PhenotypicFeature	Diaminoaciduria	An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).	UMLS:C4024698	hp.json		http://purl.obolibrary.org/obo/HP_0008339							
HP:0008341	biolink:PhenotypicFeature	Distal renal tubular acidosis	A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.	MSH:D000141|SNOMEDCT_US:236461000|SNOMEDCT_US:86210009|UMLS:C1704380	hp.json	Renal tubular acidosis, type I	http://purl.obolibrary.org/obo/HP_0008341							
HP:0008344	biolink:PhenotypicFeature	Elevated plasma branched chain amino acids	An increased concentration of a branched chain amino acid in the blood.	UMLS:C4024697	hp.json		http://purl.obolibrary.org/obo/HP_0008344							
HP:0008345	biolink:PhenotypicFeature	Hypoplasia of the iris dilator muscle	Underdevelopment of the dilatator pupillae.	UMLS:C4024696	hp.json	Hypoplasia of the pupil dilator muscle|Underdeveloped iris dilator muscle|Underdeveloped pupil dilator muscle	http://purl.obolibrary.org/obo/HP_0008345							
HP:0008346	biolink:PhenotypicFeature	Increased red cell sickling tendency		UMLS:C4024695	hp.json	Increased sickling of erythrocytes|Increased sickling of red cells	http://purl.obolibrary.org/obo/HP_0008346							
HP:0008347	biolink:PhenotypicFeature	Decreased activity of mitochondrial complex IV	A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.	UMLS:C4020800	hp.json	Respiratory complex IV deficiency	http://purl.obolibrary.org/obo/HP_0008347							
HP:0008348	biolink:PhenotypicFeature	Decreased circulating IgG2 level	A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.	UMLS:C4021545	hp.json	Decreased IgG2 level in blood|Immunoglobulin IgG2 deficiency|Reduced IgG2 levels	http://purl.obolibrary.org/obo/HP_0008348							
HP:0008352	biolink:PhenotypicFeature	Impaired platelet adhesion	An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.	UMLS:C4024694	hp.json	Impaired thrombocytes adhesion	http://purl.obolibrary.org/obo/HP_0008352							
HP:0008353	biolink:PhenotypicFeature	Neutral hyperaminoaciduria	The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.	UMLS:C1856194	hp.json		http://purl.obolibrary.org/obo/HP_0008353							
HP:0008354	biolink:PhenotypicFeature	Factor X activation deficiency	Reduced ability to transform factor X into its activated form factor Xa.	UMLS:C4024693	hp.json		http://purl.obolibrary.org/obo/HP_0008354							
HP:0008356	biolink:PhenotypicFeature	obsolete Combined hyperlipidemia			hp.json		http://purl.obolibrary.org/obo/HP_0008356							
HP:0008357	biolink:PhenotypicFeature	Reduced factor XIII activity	Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.	UMLS:C4024692	hp.json		http://purl.obolibrary.org/obo/HP_0008357							
HP:0008358	biolink:PhenotypicFeature	Hyperprolinemia	An increased concentration of proline in the blood.	SNOMEDCT_US:59655002|UMLS:C0268528	hp.json	Prolinemia	http://purl.obolibrary.org/obo/HP_0008358							
HP:0008360	biolink:PhenotypicFeature	Neonatal hypoproteinemia	A neonatal decreased concentration of proteins in the blood.	UMLS:C4024691	hp.json		http://purl.obolibrary.org/obo/HP_0008360							
HP:0008361	biolink:PhenotypicFeature	Corticospinal tract pallor		UMLS:C4024690	hp.json		http://purl.obolibrary.org/obo/HP_0008361							
HP:0008362	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the hallux	Absence or underdevelopment of the big toe.	UMLS:C1836213	hp.json	Absent/small big toe|Absent/underdeveloped big toe|Aplastic/hypoplastic halluces	http://purl.obolibrary.org/obo/HP_0008362							
HP:0008363	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the tarsal bones	Absence or underdevelopment of the tarsal bones.	UMLS:C1848671	hp.json	Absent/small ankle bone|Absent/underdeveloped ankle bone|Aplastic/hypoplastic tarsals	http://purl.obolibrary.org/obo/HP_0008363							
HP:0008364	biolink:PhenotypicFeature	Abnormality of the calcaneus	An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.	UMLS:C4024689	hp.json	Abnormal heel bone	http://purl.obolibrary.org/obo/HP_0008364							
HP:0008365	biolink:PhenotypicFeature	Abnormal talus morphology	An abnormality of the talus.	UMLS:C4024688	hp.json	Abnormal large bone of ankle	http://purl.obolibrary.org/obo/HP_0008365							
HP:0008366	biolink:PhenotypicFeature	Contractures involving the joints of the feet		SNOMEDCT_US:239742004|UMLS:C0343149	hp.json	Contractures of the foot joints	http://purl.obolibrary.org/obo/HP_0008366							
HP:0008368	biolink:PhenotypicFeature	Tarsal synostosis	Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).	MSH:D000070604|SNOMEDCT_US:27173008|UMLS:C0265654	hp.json	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							
HP:0008369	biolink:PhenotypicFeature	Abnormal tarsal ossification	An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	UMLS:C4021544|UMLS:C4025075	hp.json	Hardening of ankle bones|Abnormal maturation of ankle bones|Abnormal ossification of tarsal bones	http://purl.obolibrary.org/obo/HP_0008369							
HP:0008371	biolink:PhenotypicFeature	Abnormal metatarsal ossification	Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.	UMLS:C4021543	hp.json	Abnormal maturation of long bone of foot|Abnormal ossification involving metatarsal bones	http://purl.obolibrary.org/obo/HP_0008371							
HP:0008372	biolink:PhenotypicFeature	Abnormality of vitamin A metabolism		UMLS:C4024686	hp.json		http://purl.obolibrary.org/obo/HP_0008372							
HP:0008373	biolink:PhenotypicFeature	Puberty and gonadal disorders		UMLS:C4024685	hp.json	Puberty and gonadal disorders	http://purl.obolibrary.org/obo/HP_0008373							
HP:0008376	biolink:PhenotypicFeature	Nasal, dysarthic speech		UMLS:C1834664	hp.json	Breathy speech	http://purl.obolibrary.org/obo/HP_0008376							
HP:0008383	biolink:PhenotypicFeature	Slow-growing nails	Nails whose growth is slower than normal.	UMLS:C1835238	hp.json	Slow-growing nails	http://purl.obolibrary.org/obo/HP_0008383							
HP:0008386	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the nails	Aplasia or developmental hypoplasia of the nail.	UMLS:C1859077	hp.json	Absent/small nails|Absent/underdeveloped nails|Absent/hypoplastic nails|Nail aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0008386							
HP:0008388	biolink:PhenotypicFeature	Abnormal toenail morphology	An anomaly of the toenail.	SNOMEDCT_US:700189007|UMLS:C3839753	hp.json	Abnormality of the toenail|Abnormality of the toenails	http://purl.obolibrary.org/obo/HP_0008388							
HP:0008390	biolink:PhenotypicFeature	Recurrent loss of toenails and fingernails	Repeated loss, or shedding, of the nails of the fingers and toes.	UMLS:C4021542	hp.json	Recurrent loss of toenails and fingernails|Recurrent shedding of toenails and fingernails	http://purl.obolibrary.org/obo/HP_0008390							
HP:0008391	biolink:PhenotypicFeature	Dystrophic fingernails	The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.	UMLS:C3551426	hp.json	Poor fingernail formation	http://purl.obolibrary.org/obo/HP_0008391							
HP:0008392	biolink:PhenotypicFeature	Subungual hyperkeratosis	A thickening of the stratum corneum in the region beneath the nails.	SNOMEDCT_US:10165000|UMLS:C0038605	hp.json	Thickened, discolored skin under nail|Thickened, discoloured skin under nail	http://purl.obolibrary.org/obo/HP_0008392							
HP:0008393	biolink:PhenotypicFeature	Congenital curved nail of fourth toe		UMLS:C4024684	hp.json		http://purl.obolibrary.org/obo/HP_0008393							
HP:0008394	biolink:PhenotypicFeature	Congenital onychodystrophy		UMLS:C1393669|UMLS:C4280413	hp.json	Congenital malformed nails	http://purl.obolibrary.org/obo/HP_0008394							
HP:0008396	biolink:PhenotypicFeature	Chronic monilial nail infection	Chronic infection of the nails by Candida species.	UMLS:C4024683	hp.json		http://purl.obolibrary.org/obo/HP_0008396							
HP:0008398	biolink:PhenotypicFeature	Hypoplastic fifth fingernail	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.	UMLS:C4024682	hp.json	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							
HP:0008399	biolink:PhenotypicFeature	Circumungual hyperkeratosis	A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.	UMLS:C4024681	hp.json	Thick skin around nails	http://purl.obolibrary.org/obo/HP_0008399							
HP:0008400	biolink:PhenotypicFeature	Onycholysis of distal fingernails	Detachment of the distal fingernails from the nail bed.	UMLS:C4024680	hp.json	Detachment of outermost fingernails	http://purl.obolibrary.org/obo/HP_0008400							
HP:0008401	biolink:PhenotypicFeature	Onychogryposis of toenails	Thickened toenails.	UMLS:C4024679	hp.json	Overgrowth and curving of toenails	http://purl.obolibrary.org/obo/HP_0008401							
HP:0008402	biolink:PhenotypicFeature	Ridged fingernail	Longitudinal, linear prominences in the fingernail plate.	UMLS:C1849392	hp.json	Longitudinally grooved fingernails|Ridged fingernail|Ridged fingernails	http://purl.obolibrary.org/obo/HP_0008402							
HP:0008404	biolink:PhenotypicFeature	Nail dystrophy	Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.	MEDDRA:10028698|SNOMEDCT_US:87065009|UMLS:C0221260	hp.json	Poor nail formation|Dystrophic nails|Onychodystrophy	http://purl.obolibrary.org/obo/HP_0008404							
HP:0008407	biolink:PhenotypicFeature	Hyperconvex thumb nails		UMLS:C1855290	hp.json	Tightly curved thumb nail	http://purl.obolibrary.org/obo/HP_0008407							
HP:0008410	biolink:PhenotypicFeature	Subungual hyperkeratotic fragments		UMLS:C1852311	hp.json		http://purl.obolibrary.org/obo/HP_0008410							
HP:0008414	biolink:PhenotypicFeature	Lumbar kyphosis in infancy		UMLS:C1863423	hp.json	Hunched back in infancy|Round back in infancy	http://purl.obolibrary.org/obo/HP_0008414							
HP:0008416	biolink:PhenotypicFeature	Six lumbar vertebrae		UMLS:C1839279	hp.json		http://purl.obolibrary.org/obo/HP_0008416							
HP:0008417	biolink:PhenotypicFeature	Vertebral hypoplasia	Small, underdeveloped vertebral bodies.	SNOMEDCT_US:205456006|UMLS:C0345394	hp.json	Underdeveloped vertebrae	http://purl.obolibrary.org/obo/HP_0008417							hposlim_core
HP:0008418	biolink:PhenotypicFeature	Squared-off platyspondyly		UMLS:C1849051	hp.json		http://purl.obolibrary.org/obo/HP_0008418							
HP:0008419	biolink:PhenotypicFeature	Intervertebral disc degeneration	The presence of degenerative changes of intervertebral disk.	MSH:D055959|SNOMEDCT_US:77547008|UMLS:C0158266	hp.json	Degeneration of intervertebral discs|Degenerative intervertebral disc|Degeneration of intervertebral disks|Degenerative disc disease|Degenerative intervertebral disk	http://purl.obolibrary.org/obo/HP_0008419							
HP:0008420	biolink:PhenotypicFeature	Punctate vertebral calcifications	The presence of punctiform calcification of the bone of the vertebral bodies.	UMLS:C4024678	hp.json		http://purl.obolibrary.org/obo/HP_0008420							
HP:0008421	biolink:PhenotypicFeature	Tall lumbar vertebral bodies		UMLS:C1863313	hp.json		http://purl.obolibrary.org/obo/HP_0008421							
HP:0008422	biolink:PhenotypicFeature	Vertebral wedging	An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.	UMLS:C1695776	hp.json	Wedge-shaped vertebrae|Wedged vertebrae|anterior wedging	http://purl.obolibrary.org/obo/HP_0008422							
HP:0008423	biolink:PhenotypicFeature	Spinal dysplasia	The presence of developmental dysplasia of the vertebral column.	UMLS:C4021853	hp.json		http://purl.obolibrary.org/obo/HP_0008423							
HP:0008424	biolink:PhenotypicFeature	Hypoplastic 5th lumbar vertebrae		UMLS:C1859366	hp.json	Underdeveloped 5th lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0008424							
HP:0008425	biolink:PhenotypicFeature	Cuboid-shaped thoracolumbar vertebral bodies		UMLS:C1855289	hp.json		http://purl.obolibrary.org/obo/HP_0008425							
HP:0008428	biolink:PhenotypicFeature	Vertebral clefting	Schisis (cleft or cleavage) of vertebral bodies.	UMLS:C1855828	hp.json	Vertebral clefts	http://purl.obolibrary.org/obo/HP_0008428							
HP:0008430	biolink:PhenotypicFeature	Anterior beaking of lumbar vertebrae	Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.	UMLS:C4021541	hp.json	Anterior tongue-like protrusion of lumbar vertebral bodies	http://purl.obolibrary.org/obo/HP_0008430							
HP:0008432	biolink:PhenotypicFeature	Anterior wedging of L1	An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).	UMLS:C4024677	hp.json		http://purl.obolibrary.org/obo/HP_0008432							
HP:0008433	biolink:PhenotypicFeature	Reversed usual vertebral column curves		UMLS:C4024676	hp.json		http://purl.obolibrary.org/obo/HP_0008433							
HP:0008434	biolink:PhenotypicFeature	Hypoplastic cervical vertebrae		UMLS:C1835570	hp.json	Cervical vertebrae hypoplasia|Underdeveloped cervical vertebrae	http://purl.obolibrary.org/obo/HP_0008434							
HP:0008435	biolink:PhenotypicFeature	Absent in utero ossification of vertebral bodies		UMLS:C1842698	hp.json		http://purl.obolibrary.org/obo/HP_0008435							
HP:0008436	biolink:PhenotypicFeature	Absent/hypoplastic coccyx		UMLS:C1856644	hp.json	Absent/small tailbone|Absent/underdeveloped tailbone	http://purl.obolibrary.org/obo/HP_0008436							
HP:0008437	biolink:PhenotypicFeature	Bifid thoracic vertebrae		UMLS:C2751478	hp.json		http://purl.obolibrary.org/obo/HP_0008437							
HP:0008438	biolink:PhenotypicFeature	Vertebral arch anomaly	A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.	UMLS:C1835764	hp.json	Vertebral arch abnormalities	http://purl.obolibrary.org/obo/HP_0008438							
HP:0008439	biolink:PhenotypicFeature	Lumbar hemivertebrae	Absence of one half of the vertebral body in the lumbar spine.	SNOMEDCT_US:93167001|UMLS:C0432149	hp.json		http://purl.obolibrary.org/obo/HP_0008439							
HP:0008440	biolink:PhenotypicFeature	C1-C2 vertebral abnormality	Any abnormality of the atlas and the axis.	UMLS:C4024675	hp.json		http://purl.obolibrary.org/obo/HP_0008440							
HP:0008441	biolink:PhenotypicFeature	Herniation of intervertebral nuclei	The presence of one or more herniated nucleus pulposus of intervertebral disk.	MSH:D007405|SNOMEDCT_US:73589001|UMLS:C0021818|UMLS:C1832597	hp.json	Herniated disk|Herniated disc|Herniated intervertebral nuclei	http://purl.obolibrary.org/obo/HP_0008441							hposlim_core
HP:0008442	biolink:PhenotypicFeature	Vertebral hyperostosis	Excessive growth of the bones of the vertebral bodies.	UMLS:C1834057	hp.json		http://purl.obolibrary.org/obo/HP_0008442							
HP:0008443	biolink:PhenotypicFeature	Spinal deformities		SNOMEDCT_US:298380006|UMLS:C0575157	hp.json		http://purl.obolibrary.org/obo/HP_0008443							
HP:0008444	biolink:PhenotypicFeature	Posterior wedging of vertebral bodies	An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).	UMLS:C1969679	hp.json	Posterior wedging	http://purl.obolibrary.org/obo/HP_0008444							
HP:0008445	biolink:PhenotypicFeature	Cervical spinal canal stenosis	An abnormal narrowing of the cervical spinal canal.	UMLS:C1844925	hp.json	Narrow cervical spinal canal	http://purl.obolibrary.org/obo/HP_0008445							
HP:0008447	biolink:PhenotypicFeature	Hypoplastic coccygeal vertebrae		UMLS:C2751480	hp.json		http://purl.obolibrary.org/obo/HP_0008447							
HP:0008449	biolink:PhenotypicFeature	Progressive cervical vertebral spine fusion		UMLS:C1851129	hp.json		http://purl.obolibrary.org/obo/HP_0008449							
HP:0008450	biolink:PhenotypicFeature	Narrow vertebral interpedicular distance	A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.	UMLS:C1832598	hp.json	Interpedicular narrowing|Narrow interpedicular space|Narrow interpediculate distances|Narrowing of interpediculate distances	http://purl.obolibrary.org/obo/HP_0008450							hposlim_core
HP:0008451	biolink:PhenotypicFeature	Posterior vertebral hypoplasia		UMLS:C1856780	hp.json		http://purl.obolibrary.org/obo/HP_0008451							
HP:0008452	biolink:PhenotypicFeature	Wafer-thin platyspondyly		UMLS:C1865124	hp.json		http://purl.obolibrary.org/obo/HP_0008452							
HP:0008453	biolink:PhenotypicFeature	Congenital kyphoscoliosis		SNOMEDCT_US:405772002|UMLS:C0345392	hp.json		http://purl.obolibrary.org/obo/HP_0008453							
HP:0008454	biolink:PhenotypicFeature	Lumbar kyphosis	Over curvature of the lumbar region.	UMLS:C1844818	hp.json	Rounded lower back|Lumbar gibbus deformity	http://purl.obolibrary.org/obo/HP_0008454							
HP:0008455	biolink:PhenotypicFeature	Dysplastic sacrum	A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.	UMLS:C1851305	hp.json	Absence of some of the sacral and coccygeal bones|Partial sacral agenesis|Sacral dysgenesis	http://purl.obolibrary.org/obo/HP_0008455							
HP:0008456	biolink:PhenotypicFeature	C2-C3 subluxation	A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.	UMLS:C2678323	hp.json		http://purl.obolibrary.org/obo/HP_0008456							
HP:0008457	biolink:PhenotypicFeature	Caudal interpedicular narrowing	Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.	UMLS:C1863734	hp.json	Caudal narrowing of interpedicular distances	http://purl.obolibrary.org/obo/HP_0008457							
HP:0008458	biolink:PhenotypicFeature	Progressive congenital scoliosis	A progressive form of scoliosis with congenital onset.	UMLS:C1857025	hp.json		http://purl.obolibrary.org/obo/HP_0008458							
HP:0008459	biolink:PhenotypicFeature	Cervical vertebral agenesis	Agenesis of one or more vertebrae of the cervical vertebral column.	MSH:C562952|SNOMEDCT_US:91880006|UMLS:C0432160	hp.json	Cervical vertebrae agenesis|Missing cervical vertebrae	http://purl.obolibrary.org/obo/HP_0008459							
HP:0008460	biolink:PhenotypicFeature	Hypoplastic spinal processes		UMLS:C4024674	hp.json	Underdeveloped spinal processes	http://purl.obolibrary.org/obo/HP_0008460							
HP:0008461	biolink:PhenotypicFeature	Cervical vertebral facet hypoplasia		UMLS:C4024673	hp.json		http://purl.obolibrary.org/obo/HP_0008461							
HP:0008462	biolink:PhenotypicFeature	Cervical instability		UMLS:C1863314	hp.json		http://purl.obolibrary.org/obo/HP_0008462							
HP:0008463	biolink:PhenotypicFeature	Central vertebral hypoplasia		UMLS:C4024672	hp.json		http://purl.obolibrary.org/obo/HP_0008463							
HP:0008464	biolink:PhenotypicFeature	Absent spinous processes of lower thoracic and lumbar vertebrae		UMLS:C4024671	hp.json		http://purl.obolibrary.org/obo/HP_0008464							
HP:0008465	biolink:PhenotypicFeature	Absent vertebra	A developmental defect characterized by agenesis of one or more vertebral bodies.	SNOMEDCT_US:15843004|UMLS:C0158776	hp.json	Absent vertebrae	http://purl.obolibrary.org/obo/HP_0008465							
HP:0008467	biolink:PhenotypicFeature	Thoracic hemivertebrae	Absence of one half of the vertebral body in the thoracic spine.	SNOMEDCT_US:95304000|UMLS:C0432152|UMLS:C4020799	hp.json	Midthoracic hemivertebrae	http://purl.obolibrary.org/obo/HP_0008467							
HP:0008468	biolink:PhenotypicFeature	Abnormal sacral segmentation	An abnormality related to a defect of vertebral separation of sacral vertebrae during development.	UMLS:C1968942	hp.json		http://purl.obolibrary.org/obo/HP_0008468							
HP:0008469	biolink:PhenotypicFeature	Cervical vertebral dysplasia	Dysplasia of the cervical vertebral column.	MSH:C566140|UMLS:C1861693	hp.json		http://purl.obolibrary.org/obo/HP_0008469							
HP:0008470	biolink:PhenotypicFeature	Lower thoracic interpediculate narrowness	A reduction of the distance between the lower thoracic vertebral pedicles.	UMLS:C1854940	hp.json	Narrowness of interpediculate distances in lower thoracic regions	http://purl.obolibrary.org/obo/HP_0008470							
HP:0008472	biolink:PhenotypicFeature	Prominent protruding coccyx		UMLS:C1850044|UMLS:C4280412	hp.json	Large tailbone|Prominent protruding tailbone	http://purl.obolibrary.org/obo/HP_0008472							
HP:0008473	biolink:PhenotypicFeature	Narrow anterio-posterior vertebral body diameter	An abnormal reduction of the anterioposterior diameter of the vertebral body.	UMLS:C4021540	hp.json	Reduced anterior-posterior diameter of vertebral bodies|Reduced sagittal diameter of vertebrae	http://purl.obolibrary.org/obo/HP_0008473							
HP:0008475	biolink:PhenotypicFeature	Hypoplastic sacral vertebrae		UMLS:C2751479	hp.json		http://purl.obolibrary.org/obo/HP_0008475							
HP:0008476	biolink:PhenotypicFeature	Irregular sclerotic endplates		UMLS:C1868554	hp.json	irregular, dense end plate	http://purl.obolibrary.org/obo/HP_0008476							
HP:0008477	biolink:PhenotypicFeature	Poorly ossified cervical vertebrae	Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.	UMLS:C4024670	hp.json		http://purl.obolibrary.org/obo/HP_0008477							
HP:0008478	biolink:PhenotypicFeature	Scheuermann-like vertebral changes		UMLS:C1844926	hp.json		http://purl.obolibrary.org/obo/HP_0008478							
HP:0008479	biolink:PhenotypicFeature	Hypoplastic vertebral bodies		UMLS:C1863353	hp.json	Underdeveloped back bones|Small vertebrae|Small vertebral bodies	http://purl.obolibrary.org/obo/HP_0008479							
HP:0008480	biolink:PhenotypicFeature	Cervical spondylosis	The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.	MSH:D055009|SNOMEDCT_US:387800004|SNOMEDCT_US:387801000|UMLS:C0263854|UMLS:C1384641	hp.json	Neck arthritis|Cervical oestoarthritis	http://purl.obolibrary.org/obo/HP_0008480							
HP:0008482	biolink:PhenotypicFeature	Asymmetry of spinal facet joints		UMLS:C4024669	hp.json		http://purl.obolibrary.org/obo/HP_0008482							
HP:0008483	biolink:PhenotypicFeature	Cervical vertebral bodies with decreased anteroposterior diameter		UMLS:C1847393	hp.json		http://purl.obolibrary.org/obo/HP_0008483							
HP:0008484	biolink:PhenotypicFeature	Thoracolumbar interpediculate narrowness	A reduction of the distance between thoracolumbar vertebral pedicles.	UMLS:C1864364	hp.json	Narrow thoracolumbar interpediculate distance	http://purl.obolibrary.org/obo/HP_0008484							
HP:0008486	biolink:PhenotypicFeature	Lumbar interpedicular narrowing	Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.	UMLS:C1849079	hp.json	Decreasing lumbar vertebrae interpediculate distance	http://purl.obolibrary.org/obo/HP_0008486							
HP:0008488	biolink:PhenotypicFeature	Anterior rounding of vertebral bodies		UMLS:C1850043	hp.json		http://purl.obolibrary.org/obo/HP_0008488							
HP:0008489	biolink:PhenotypicFeature	Spondylolisthesis at L5-S1	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).	UMLS:C3275799	hp.json	Spondylolysis and spondylolisthesis of l5	http://purl.obolibrary.org/obo/HP_0008489							
HP:0008490	biolink:PhenotypicFeature	Sacral segmentation defect		UMLS:C1850329	hp.json		http://purl.obolibrary.org/obo/HP_0008490							
HP:0008491	biolink:PhenotypicFeature	Premature anterior fontanel closure	Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.	UMLS:C4024668	hp.json		http://purl.obolibrary.org/obo/HP_0008491							
HP:0008494	biolink:PhenotypicFeature	Inferior lens subluxation	Partial displacement of the lens in the inferior direction.	UMLS:C2036842	hp.json	Inferior subluxated lens	http://purl.obolibrary.org/obo/HP_0008494							
HP:0008496	biolink:PhenotypicFeature	Multiple rows of eyelashes		SNOMEDCT_US:95339000|UMLS:C0423848|UMLS:C3550336	hp.json	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	biolink:PhenotypicFeature	Congenital craniofacial dysostosis		UMLS:C4024667	hp.json		http://purl.obolibrary.org/obo/HP_0008497							
HP:0008498	biolink:PhenotypicFeature	No permanent dentition		UMLS:C4024666	hp.json	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	biolink:PhenotypicFeature	High hypermetropia	A severe form of hypermetropia with over +5.00 diopters.	UMLS:C4024665	hp.json	Severe farsightedness|Severe long-sightedness|High hyperopia|High-grade hypermetropia	http://purl.obolibrary.org/obo/HP_0008499							
HP:0008501	biolink:PhenotypicFeature	Median cleft lip and palate	Cleft lip or palate affecting the midline region of the palate.	UMLS:C2750604	hp.json	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							
HP:0008504	biolink:PhenotypicFeature	Moderate sensorineural hearing impairment	The presence of a moderate form of sensorineural hearing impairment.	UMLS:C4020798|UMLS:C4024664	hp.json	Moderate neural deafness	http://purl.obolibrary.org/obo/HP_0008504							
HP:0008507	biolink:PhenotypicFeature	Static ophthalmoparesis		UMLS:C4024663	hp.json		http://purl.obolibrary.org/obo/HP_0008507							
HP:0008509	biolink:PhenotypicFeature	Aged leonine appearance		UMLS:C3550331	hp.json		http://purl.obolibrary.org/obo/HP_0008509							
HP:0008511	biolink:PhenotypicFeature	Central posterior corneal opacity	Reduced transparency of the central posterior portion of the corneal stroma.	SNOMEDCT_US:246967007|UMLS:C0423260	hp.json		http://purl.obolibrary.org/obo/HP_0008511							
HP:0008513	biolink:PhenotypicFeature	Bilateral conductive hearing impairment	A bilateral type of conductive hearing impairment.	SNOMEDCT_US:194417009|UMLS:C0452136	hp.json	Bilateral conductive deafness|Bilateral conductive hearing loss	http://purl.obolibrary.org/obo/HP_0008513							
HP:0008515	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the vertebrae		UMLS:C4024662	hp.json	Absent/small vertebrae|Absent/underdeveloped vertebrae	http://purl.obolibrary.org/obo/HP_0008515							
HP:0008516	biolink:PhenotypicFeature	Abnormality of the vertebral spinous processes		UMLS:C4024661	hp.json		http://purl.obolibrary.org/obo/HP_0008516							
HP:0008517	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the sacrum	Aplasia or developmental hypoplasia of the sacral bone.	UMLS:C4024660	hp.json	Absent/small sacrum|Absent/underdeveloped sacrum	http://purl.obolibrary.org/obo/HP_0008517							
HP:0008518	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the vertebral column		UMLS:C4024659	hp.json	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	biolink:PhenotypicFeature	Abnormal coccyx morphology	Any structural abnormality of the coccyx.	UMLS:C4024658	hp.json	Abnormal tailbone|Abnormality of the coccyx	http://purl.obolibrary.org/obo/HP_0008519							
HP:0008523	biolink:PhenotypicFeature	Posterior helix pit	Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.	UMLS:C4021539	hp.json	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							hposlim_core
HP:0008527	biolink:PhenotypicFeature	Congenital sensorineural hearing impairment	A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.	SNOMEDCT_US:700453005|UMLS:C1865866	hp.json	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							
HP:0008528	biolink:PhenotypicFeature	Long hairs growing from helix of pinna		SNOMEDCT_US:27394002|UMLS:C0222050|UMLS:C4024657	hp.json	Ear hair|Long hairs growing from helix of ear	http://purl.obolibrary.org/obo/HP_0008528							
HP:0008529	biolink:PhenotypicFeature	Absence of acoustic reflex	Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.	UMLS:C1832834	hp.json	Absence of acoustic middle ear muscle reflexes|Absent middle ear reflexes	http://purl.obolibrary.org/obo/HP_0008529							
HP:0008537	biolink:PhenotypicFeature	Cleft at the superior portion of the pinna		UMLS:C1865302	hp.json	Cleft at the superior portion of the ear	http://purl.obolibrary.org/obo/HP_0008537							
HP:0008541	biolink:PhenotypicFeature	Superiorly displaced ears		UMLS:C1850190	hp.json	High set ears	http://purl.obolibrary.org/obo/HP_0008541							
HP:0008542	biolink:PhenotypicFeature	Low-frequency hearing loss	A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).	SNOMEDCT_US:42538001|UMLS:C0271514	hp.json	Low-frequency hearing loss	http://purl.obolibrary.org/obo/HP_0008542							
HP:0008544	biolink:PhenotypicFeature	Abnormally folded helix		UMLS:C1970777	hp.json		http://purl.obolibrary.org/obo/HP_0008544							
HP:0008551	biolink:PhenotypicFeature	Microtia	Underdevelopment of the external ear.	MSH:D065817|SNOMEDCT_US:35045004|UMLS:C0152423	hp.json	Small ears|Underdeveloped ears|Bilateral microtia|Hypoplasia of the external ear|Hypoplastic ears|Hypoplastic pinna|Small pinnae	http://purl.obolibrary.org/obo/HP_0008551							hposlim_core
HP:0008554	biolink:PhenotypicFeature	Cochlear malformation	The presence of a malformed cochlea.	UMLS:C1862050	hp.json		http://purl.obolibrary.org/obo/HP_0008554							
HP:0008555	biolink:PhenotypicFeature	Absent vestibular function	Complete lack of functioning of the vestibular apparatus.	UMLS:C4024656	hp.json		http://purl.obolibrary.org/obo/HP_0008555							
HP:0008559	biolink:PhenotypicFeature	Hypoplastic superior helix		UMLS:C1865305	hp.json	Underdeveloped superior helices	http://purl.obolibrary.org/obo/HP_0008559							
HP:0008568	biolink:PhenotypicFeature	Vestibular areflexia	Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.	SNOMEDCT_US:22443004|UMLS:C0235927|UMLS:C4015052	hp.json	Vestibular ataxia	http://purl.obolibrary.org/obo/HP_0008568							
HP:0008569	biolink:PhenotypicFeature	Microtia, second degree	Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.	UMLS:C4020694|UMLS:C4020792|UMLS:C4020793|UMLS:C4020794|UMLS:C4020795|UMLS:C4020796|UMLS:C4020797	hp.json	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							
HP:0008572	biolink:PhenotypicFeature	External ear malformation	A malformation of the auricle of the ear.	UMLS:C1846460	hp.json	External ear malformation	http://purl.obolibrary.org/obo/HP_0008572							
HP:0008573	biolink:PhenotypicFeature	Low-frequency sensorineural hearing impairment	A form of sensorineural hearing impairment that affects primarily the lower frequencies.	UMLS:C3810445	hp.json	Low-frequency sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0008573							
HP:0008577	biolink:PhenotypicFeature	Underfolded helix	Underdevelopment of the helix that either affects the entire helix, or is localized.	UMLS:C1849735	hp.json	Poorly folded helices	http://purl.obolibrary.org/obo/HP_0008577							
HP:0008583	biolink:PhenotypicFeature	Underfolded superior helices	A condition in which the superior portion of the helix is folded over to a lesser degree than normal.	UMLS:C4024655	hp.json		http://purl.obolibrary.org/obo/HP_0008583							
HP:0008586	biolink:PhenotypicFeature	Hypoplasia of the cochlea	Developmental hypoplasia of the cochlea.	UMLS:C2676974	hp.json	Hypoplastic cochlea|Underdeveloped cochlea	http://purl.obolibrary.org/obo/HP_0008586							
HP:0008587	biolink:PhenotypicFeature	Mild neurosensory hearing impairment	The presence of a mild form of sensorineural hearing impairment.	UMLS:C4021538	hp.json	Mild neurosensory hearing loss	http://purl.obolibrary.org/obo/HP_0008587							
HP:0008588	biolink:PhenotypicFeature	Slit-like opening of the exterior auditory meatus	A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.	UMLS:C1846459	hp.json		http://purl.obolibrary.org/obo/HP_0008588							
HP:0008589	biolink:PhenotypicFeature	Hypoplastic helices	Underdevelopment of the helix, i.e., of the outer rim of the pinna.	UMLS:C1842681	hp.json	Underdeveloped helices	http://purl.obolibrary.org/obo/HP_0008589							
HP:0008591	biolink:PhenotypicFeature	Congenital conductive hearing impairment	A type of conductive deafness with congenital onset.	UMLS:C4021537	hp.json	Congenital conductive deafness|Congenital conductive hearing loss	http://purl.obolibrary.org/obo/HP_0008591							
HP:0008593	biolink:PhenotypicFeature	Prominent antitragus	Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	UMLS:C1968811	hp.json	Enlarged antitragus|Hyperplastic antitragus|Hypertrophic antitragus	http://purl.obolibrary.org/obo/HP_0008593							
HP:0008596	biolink:PhenotypicFeature	Postlingual sensorineural hearing impairment	A form of sensorineural hearing impairment with onset after the acquisition of speech.	UMLS:C4024654	hp.json		http://purl.obolibrary.org/obo/HP_0008596							
HP:0008598	biolink:PhenotypicFeature	Mild conductive hearing impairment	A mild form of conductive hearing impairment.	UMLS:C4021536	hp.json	Conductive hearing loss, mild	http://purl.obolibrary.org/obo/HP_0008598							
HP:0008605	biolink:PhenotypicFeature	Unilateral external ear deformity		UMLS:C1834043	hp.json	Deformed external ear on one side	http://purl.obolibrary.org/obo/HP_0008605							
HP:0008606	biolink:PhenotypicFeature	Supraauricular pit	Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.	UMLS:C1862059	hp.json	Pit above the ear|Supraauricular fistula|Supraauricular sinus|Supraauricular sinuses	http://purl.obolibrary.org/obo/HP_0008606							
HP:0008607	biolink:PhenotypicFeature	Progressive conductive hearing impairment	A progressive type of conductive deafness.	UMLS:C1861325	hp.json	Progressive conductive deafness	http://purl.obolibrary.org/obo/HP_0008607							
HP:0008608	biolink:PhenotypicFeature	Hypertrophic auricular cartilage		UMLS:C1857263	hp.json		http://purl.obolibrary.org/obo/HP_0008608							
HP:0008609	biolink:PhenotypicFeature	Morphological abnormality of the middle ear	An abnormality of the morphology or structure of the middle ear.	UMLS:C1857456	hp.json	Middle ear malformation|Morphological abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0008609							
HP:0008610	biolink:PhenotypicFeature	Infantile sensorineural hearing impairment	A form of sensorineural hearing impairment with infantile onset.	UMLS:C4021535	hp.json	Infantile sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0008610							
HP:0008615	biolink:PhenotypicFeature	Adult onset sensorineural hearing impairment	The presence of sensorineural deafness with late onset.	UMLS:C4021534	hp.json	Late sensorineural hearing loss|Sensorineural deafness, late-onset	http://purl.obolibrary.org/obo/HP_0008615							
HP:0008619	biolink:PhenotypicFeature	Bilateral sensorineural hearing impairment	A bilateral form of sensorineural hearing impairment.	SNOMEDCT_US:194424005|UMLS:C0452138	hp.json	Bilateral nerve deafness|Bilateral sensorineural deafness|Bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral	http://purl.obolibrary.org/obo/HP_0008619							
HP:0008625	biolink:PhenotypicFeature	Severe sensorineural hearing impairment	A severe form of sensorineural hearing impairment.	UMLS:C4021533	hp.json	Severe sensorineural deafness|Severe sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0008625							
HP:0008628	biolink:PhenotypicFeature	Abnormality of the stapes	An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.	UMLS:C4021532	hp.json	Stapedial abnormalities	http://purl.obolibrary.org/obo/HP_0008628							
HP:0008629	biolink:PhenotypicFeature	Pulsatile tinnitus	Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.	MSH:D014012|SNOMEDCT_US:232322006|UMLS:C0751559	hp.json		http://purl.obolibrary.org/obo/HP_0008629							
HP:0008631	biolink:PhenotypicFeature	Ureteral dysgenesis	A developmental anomaly of the ureter.	UMLS:C4024653	hp.json		http://purl.obolibrary.org/obo/HP_0008631							
HP:0008633	biolink:PhenotypicFeature	Agonadism	Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).	UMLS:C4024652	hp.json	Absent gonadal tissue|Gonadal agenesis	http://purl.obolibrary.org/obo/HP_0008633							
HP:0008635	biolink:PhenotypicFeature	Hypertrophy of the urinary bladder	Abnormal enlargement of the urinary bladder.	UMLS:C4021531	hp.json	Hypertrophic urinary bladder	http://purl.obolibrary.org/obo/HP_0008635							
HP:0008636	biolink:PhenotypicFeature	Lobular glomerulopathy		UMLS:C4024651	hp.json		http://purl.obolibrary.org/obo/HP_0008636							
HP:0008639	biolink:PhenotypicFeature	Gonadal hypoplasia		UMLS:C0239761	hp.json	Underdeveloped gonad	http://purl.obolibrary.org/obo/HP_0008639							
HP:0008640	biolink:PhenotypicFeature	Congenital macroorchidism		UMLS:C4024650	hp.json		http://purl.obolibrary.org/obo/HP_0008640							
HP:0008643	biolink:PhenotypicFeature	Nephroblastomatosis	Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.	UMLS:C2675558	hp.json		http://purl.obolibrary.org/obo/HP_0008643							
HP:0008647	biolink:PhenotypicFeature	Pubertal developmental failure in females		UMLS:C4024649	hp.json		http://purl.obolibrary.org/obo/HP_0008647							
HP:0008648	biolink:PhenotypicFeature	Anteriorly displaced urethral meatus		UMLS:C4024648	hp.json		http://purl.obolibrary.org/obo/HP_0008648							
HP:0008651	biolink:PhenotypicFeature	Uric acid urolithiasis independent of gout		UMLS:C4024647	hp.json		http://purl.obolibrary.org/obo/HP_0008651							
HP:0008652	biolink:PhenotypicFeature	Autonomic erectile dysfunction	Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.	UMLS:C1868524	hp.json	Impotence due to autonomic dysfunction	http://purl.obolibrary.org/obo/HP_0008652							
HP:0008653	biolink:PhenotypicFeature	Crescentic glomerulonephritis	A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.	SNOMEDCT_US:236398000|UMLS:C0403416	hp.json		http://purl.obolibrary.org/obo/HP_0008653							
HP:0008655	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the fallopian tube	Aplasia or developmental hypoplasia of the fallopian tube.	UMLS:C4020791|UMLS:C4024646	hp.json	Absent/small fallopian tube|Absent/underdeveloped fallopian tube|Absent or rudimentary fallopian tubes	http://purl.obolibrary.org/obo/HP_0008655							
HP:0008656	biolink:PhenotypicFeature	Incomplete male pseudohermaphroditism		UMLS:C4024645	hp.json		http://purl.obolibrary.org/obo/HP_0008656							
HP:0008659	biolink:PhenotypicFeature	Multiple small medullary renal cysts	The presence of many cysts in the medulla of the kidney.	SNOMEDCT_US:204958008|UMLS:C0687120|UMLS:C4020790|UMLS:C4024644	hp.json	Medullary cystic disease|Medullary sponge kidney disease	http://purl.obolibrary.org/obo/HP_0008659							
HP:0008660	biolink:PhenotypicFeature	Renotubular dysgenesis	A developmental defect characterized by absence or poor development of proximal renal tubules.	MSH:C537048|SNOMEDCT_US:702397002|UMLS:C0266313	hp.json	Renal tubular dysgenesis	http://purl.obolibrary.org/obo/HP_0008660							
HP:0008661	biolink:PhenotypicFeature	Urethral stenosis	Abnormal narrowing of the urethra.	MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974	hp.json	Narrowing of the urethra	http://purl.obolibrary.org/obo/HP_0008661							
HP:0008663	biolink:PhenotypicFeature	Renal sarcoma	A sarcoma of the kidney.	NCIT:C3158|SNOMEDCT_US:254918001|UMLS:C0346251	hp.json		http://purl.obolibrary.org/obo/HP_0008663							
HP:0008664	biolink:PhenotypicFeature	Urethral sphincter sclerosis		UMLS:C4024643	hp.json		http://purl.obolibrary.org/obo/HP_0008664							
HP:0008665	biolink:PhenotypicFeature	Clitoral hypertrophy	Hypertrophy of the clitoris.	SNOMEDCT_US:80212005|UMLS:C0156394	hp.json	Enlarged clitoris|Clitoral enlargement|Clitoromegaly|Hypertrophic clitoris|Prominent clitoris	http://purl.obolibrary.org/obo/HP_0008665							
HP:0008666	biolink:PhenotypicFeature	Impaired histidine renal tubular absorption		UMLS:C4024642	hp.json		http://purl.obolibrary.org/obo/HP_0008666							
HP:0008668	biolink:PhenotypicFeature	Gonadal dysgenesis, male	Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.	MSH:D006061|UMLS:C0018054	hp.json	46,xy gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0008668							
HP:0008669	biolink:PhenotypicFeature	Abnormal spermatogenesis	Incomplete maturation or aberrant formation of the male gametes.	SNOMEDCT_US:4529005|UMLS:C0520933|UMLS:C4020789	hp.json	Abnormal sperm development|Impaired spermatogenesis	http://purl.obolibrary.org/obo/HP_0008669							
HP:0008670	biolink:PhenotypicFeature	Partial vaginal septum		UMLS:C0750088	hp.json		http://purl.obolibrary.org/obo/HP_0008670							
HP:0008672	biolink:PhenotypicFeature	Calcium oxalate nephrolithiasis	The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.	MSH:C563477|SNOMEDCT_US:444717006|UMLS:C1833683|UMLS:C4280806	hp.json	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							
HP:0008675	biolink:PhenotypicFeature	Enlarged polycystic ovaries		UMLS:C4024641	hp.json	Enlarged ovaries with cysts	http://purl.obolibrary.org/obo/HP_0008675							
HP:0008676	biolink:PhenotypicFeature	Congenital megaureter	A developmental disturbance with extreme ureteral dilatation.	SNOMEDCT_US:718485003|SNOMEDCT_US:95576001|UMLS:C0266324	hp.json	Congenital megaloureter	http://purl.obolibrary.org/obo/HP_0008676							
HP:0008677	biolink:PhenotypicFeature	Congenital nephrotic syndrome	Nephrotic syndrome with onset within the first three months of life.	MSH:C535761|SNOMEDCT_US:48796009|UMLS:C3501848	hp.json	Congenital nephrosis	http://purl.obolibrary.org/obo/HP_0008677							
HP:0008678	biolink:PhenotypicFeature	Renal hypoplasia/aplasia	Absence or underdevelopment of the kidney.	UMLS:C1857453	hp.json	Absent/small kidney|Absent/underdeveloped kidney|Renal agenesis/hypoplasia|Renal aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0008678							
HP:0008682	biolink:PhenotypicFeature	Renal tubular epithelial necrosis	Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).	MSH:D007683|SNOMEDCT_US:35455006|UMLS:C0022672	hp.json	Acute tubular necrosis|Renal tubular necrosis	http://purl.obolibrary.org/obo/HP_0008682							
HP:0008683	biolink:PhenotypicFeature	Enlarged labia minora	Increase in size of the folds of skin between the outer labia.	UMLS:C1849358	hp.json	Hypertrophic labia minora|Labia minora hypertrophy	http://purl.obolibrary.org/obo/HP_0008683							
HP:0008684	biolink:PhenotypicFeature	Aplasia/hypoplasia of the uterus	Absence or developmental hypoplasia of the uterus.	UMLS:C4024640	hp.json	Absent/small uterus|Absent/underdeveloped uterus	http://purl.obolibrary.org/obo/HP_0008684							
HP:0008687	biolink:PhenotypicFeature	Hypoplasia of the prostate		UMLS:C1844923	hp.json	Underdeveloped prostate|Hypoplastic prostate	http://purl.obolibrary.org/obo/HP_0008687							
HP:0008689	biolink:PhenotypicFeature	Bilateral cryptorchidism	Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.	MSH:D003456|SNOMEDCT_US:268228006|UMLS:C0431663	hp.json	Cryptorchidism, bilateral	http://purl.obolibrary.org/obo/HP_0008689							
HP:0008691	biolink:PhenotypicFeature	Solitary bladder diverticulum	Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.	UMLS:C4024639	hp.json		http://purl.obolibrary.org/obo/HP_0008691							
HP:0008694	biolink:PhenotypicFeature	obsolete Hypertrophic labia minora			hp.json		http://purl.obolibrary.org/obo/HP_0008694							
HP:0008695	biolink:PhenotypicFeature	Transient nephrotic syndrome		UMLS:C4024638	hp.json	Transient nephrosis	http://purl.obolibrary.org/obo/HP_0008695							
HP:0008696	biolink:PhenotypicFeature	Renal hamartoma	A disordered proliferation of mature tissues that are native to the kidneys.	UMLS:C1840396	hp.json		http://purl.obolibrary.org/obo/HP_0008696							
HP:0008697	biolink:PhenotypicFeature	Hypoplasia of the fallopian tube	Developmental hypoplasia of the fallopian tube.	UMLS:C1968706	hp.json	Underdeveloped fallopian tube|Rudimentary fallopian tubes	http://purl.obolibrary.org/obo/HP_0008697							
HP:0008702	biolink:PhenotypicFeature	Absent internal genitalia		UMLS:C4024637	hp.json		http://purl.obolibrary.org/obo/HP_0008702							
HP:0008703	biolink:PhenotypicFeature	Gonadal calcification	Deposition of calcium salts in gonadal tissue.	UMLS:C4024636	hp.json		http://purl.obolibrary.org/obo/HP_0008703							
HP:0008705	biolink:PhenotypicFeature	Ureteral triplication		UMLS:C4024635	hp.json		http://purl.obolibrary.org/obo/HP_0008705							
HP:0008706	biolink:PhenotypicFeature	Distal urethral duplication		UMLS:C4024634	hp.json		http://purl.obolibrary.org/obo/HP_0008706							
HP:0008707	biolink:PhenotypicFeature	Absent scrotum	Congenital absence of the scrotum.	SNOMEDCT_US:249233008|UMLS:C0426320	hp.json	Absent scrotum	http://purl.obolibrary.org/obo/HP_0008707							
HP:0008708	biolink:PhenotypicFeature	Partial development of the penile shaft		UMLS:C1837379	hp.json		http://purl.obolibrary.org/obo/HP_0008708							
HP:0008711	biolink:PhenotypicFeature	Benign prostatic hyperplasia	The presence of non-malignant hyperplasia of the prostate.	MSH:D011470|SNOMEDCT_US:266569009|UMLS:C0005001|UMLS:C1704272	hp.json	Benign prostatic hypertrophy	http://purl.obolibrary.org/obo/HP_0008711							
HP:0008714	biolink:PhenotypicFeature	Ureterovesical stenosis		UMLS:C4024633	hp.json		http://purl.obolibrary.org/obo/HP_0008714							
HP:0008715	biolink:PhenotypicFeature	Testicular dysgenesis		SNOMEDCT_US:253847002|UMLS:C0302885	hp.json		http://purl.obolibrary.org/obo/HP_0008715							
HP:0008716	biolink:PhenotypicFeature	Urethrovaginal fistula	The presence of a fistula between the vagina and the urethra.	SNOMEDCT_US:50477003|UMLS:C0269133	hp.json	Urethrovaginal fistulae	http://purl.obolibrary.org/obo/HP_0008716							
HP:0008717	biolink:PhenotypicFeature	Unilateral renal atrophy	A unilateral form of atrophy of the kidney.	SNOMEDCT_US:424998002|UMLS:C1827184	hp.json	Kidney degeneration on one side|Unilateral kidney wasting	http://purl.obolibrary.org/obo/HP_0008717							
HP:0008718	biolink:PhenotypicFeature	Unilateral renal dysplasia	A unilateral form of developmental dysplasia of the kidney.	SNOMEDCT_US:204951002|UMLS:C0431697	hp.json		http://purl.obolibrary.org/obo/HP_0008718							
HP:0008720	biolink:PhenotypicFeature	Primary testicular failure		SNOMEDCT_US:370997001|SNOMEDCT_US:48723006|UMLS:C1384582	hp.json		http://purl.obolibrary.org/obo/HP_0008720							
HP:0008722	biolink:PhenotypicFeature	Urethral diverticulum	The presence of a diverticulum (sac or pouch) in the wall of the urethra.	SNOMEDCT_US:90531003|UMLS:C0152443	hp.json		http://purl.obolibrary.org/obo/HP_0008722							
HP:0008723	biolink:PhenotypicFeature	Gonadal dysgenesis with female appearance, male	Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.	UMLS:C4020788|UMLS:C4024632	hp.json	Xy female gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0008723							
HP:0008724	biolink:PhenotypicFeature	Hypoplasia of the ovary	Developmental hypoplasia of the ovary.	SNOMEDCT_US:93279005|UMLS:C0685840|UMLS:C1835452	hp.json	Underdeveloped ovary|Hypoplastic ovary	http://purl.obolibrary.org/obo/HP_0008724							
HP:0008726	biolink:PhenotypicFeature	Hypoplasia of the vagina	Developmental hypoplasia of the vagina.	SNOMEDCT_US:253836009|UMLS:C0345309|UMLS:C1442988	hp.json	Underdeveloped vagina|Rudimentary vagina|Hypoplastic vagina	http://purl.obolibrary.org/obo/HP_0008726							
HP:0008729	biolink:PhenotypicFeature	Absence of labia majora		UMLS:C1849575	hp.json	Absent vaginal lips	http://purl.obolibrary.org/obo/HP_0008729							
HP:0008730	biolink:PhenotypicFeature	Female external genitalia in individual with 46,XY karyotype	The presence of female external genitalia in a person with a male karyotype.	UMLS:C1848178	hp.json	Males with female external genitalia	http://purl.obolibrary.org/obo/HP_0008730							
HP:0008732	biolink:PhenotypicFeature	Renal hypophosphatemia	Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.	UMLS:C4024631	hp.json		http://purl.obolibrary.org/obo/HP_0008732							
HP:0008733	biolink:PhenotypicFeature	Dysplastic testes		UMLS:C1837380	hp.json		http://purl.obolibrary.org/obo/HP_0008733							
HP:0008734	biolink:PhenotypicFeature	Decreased testicular size	Reduced volume of the testicle (the male gonad).	SNOMEDCT_US:276411001|UMLS:C0241355	hp.json	Decreased testicular size|Small testes|Small testis|Hypoplastic testes|Testicular hypoplasia	http://purl.obolibrary.org/obo/HP_0008734							
HP:0008736	biolink:PhenotypicFeature	Hypoplasia of penis		SNOMEDCT_US:34911001|UMLS:C0266435	hp.json	Underdeveloped penis	http://purl.obolibrary.org/obo/HP_0008736							
HP:0008738	biolink:PhenotypicFeature	Partially duplicated kidney	The presence of a partially duplicated kidney.	UMLS:C4024630	hp.json	Partially duplicated kidney	http://purl.obolibrary.org/obo/HP_0008738							
HP:0008739	biolink:PhenotypicFeature	Labial pseudohypertrophy		UMLS:C1835380	hp.json		http://purl.obolibrary.org/obo/HP_0008739							
HP:0008740	biolink:PhenotypicFeature	Longitudinal vaginal septum	The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.	UMLS:C1841680	hp.json	Vertical vaginal septum	http://purl.obolibrary.org/obo/HP_0008740							
HP:0008742	biolink:PhenotypicFeature	Prominent prostate median bar		UMLS:C4024629	hp.json		http://purl.obolibrary.org/obo/HP_0008742							
HP:0008743	biolink:PhenotypicFeature	Coronal hypospadias	A mild form of hypospadias in which the urethra opens just under the corona glandis.	SNOMEDCT_US:429641000124109|UMLS:C1394030|UMLS:C4020787	hp.json	Subcoronal hypospadias	http://purl.obolibrary.org/obo/HP_0008743							
HP:0008744	biolink:PhenotypicFeature	Abnormal aryepiglottic fold morphology	An abnormality of the aryepiglottic fold.	UMLS:C1849357	hp.json	Abnormal aryepiglottic folds|Abnormality of the aryepiglottic fold	http://purl.obolibrary.org/obo/HP_0008744							
HP:0008747	biolink:PhenotypicFeature	Cartilaginous ossification of larynx	Ossification affecting the set of cartilages of larynx.	UMLS:C1855622	hp.json		http://purl.obolibrary.org/obo/HP_0008747							
HP:0008749	biolink:PhenotypicFeature	Laryngeal hypoplasia	Underdevelopment of the larynx.	SNOMEDCT_US:253736003|UMLS:C0431527	hp.json	Hypoplastic larynx	http://purl.obolibrary.org/obo/HP_0008749							
HP:0008750	biolink:PhenotypicFeature	Laryngeal atresia	Congenital absence of the lumen of the larynx.	SNOMEDCT_US:64981002|UMLS:C0265756	hp.json		http://purl.obolibrary.org/obo/HP_0008750							
HP:0008751	biolink:PhenotypicFeature	Laryngeal cleft	Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.	MSH:C537875|SNOMEDCT_US:232461002|UMLS:C1840311	hp.json	Laryngotracheal cleft|Laryngotracheoesophageal cleft i	http://purl.obolibrary.org/obo/HP_0008751							
HP:0008752	biolink:PhenotypicFeature	Laryngeal cartilage malformation	A malformation of the laryngeal cartilage.	UMLS:C4021530	hp.json	Vocal impairment, severe, due to laryngeal cartilage abnormalities	http://purl.obolibrary.org/obo/HP_0008752							
HP:0008753	biolink:PhenotypicFeature	Aplasia of the epiglottis	Absence of the epiglottis.	UMLS:C4024628	hp.json	Absent epiglottis	http://purl.obolibrary.org/obo/HP_0008753							
HP:0008754	biolink:PhenotypicFeature	Laryngeal calcification	Calcification (abnormal deposits of calcium) in the laryngeal tissues.	UMLS:C1859158	hp.json	Laryngeal calcifications	http://purl.obolibrary.org/obo/HP_0008754							
HP:0008755	biolink:PhenotypicFeature	Laryngotracheomalacia		SNOMEDCT_US:308232009|UMLS:C0585984	hp.json		http://purl.obolibrary.org/obo/HP_0008755							
HP:0008756	biolink:PhenotypicFeature	Bowing of the vocal cords	Bowing (abnormal curvature) of the vocal folds.	SNOMEDCT_US:232448002|UMLS:C0396064	hp.json		http://purl.obolibrary.org/obo/HP_0008756							
HP:0008757	biolink:PhenotypicFeature	Unilateral vocal cord paralysis	A loss of the ability to move the vocal fold on one side.	MSH:D014826|UMLS:C0751575	hp.json	Unilateral paralysis of the vocal cord	http://purl.obolibrary.org/obo/HP_0008757							
HP:0008760	biolink:PhenotypicFeature	Violent behavior		SNOMEDCT_US:248004009|UMLS:C0424323	hp.json	Violent behavior|Violent behaviour	http://purl.obolibrary.org/obo/HP_0008760							
HP:0008762	biolink:PhenotypicFeature	Repetitive compulsive behavior		UMLS:C1969697	hp.json	Repetitive compulsive behavior|Repetitive compulsive behaviour	http://purl.obolibrary.org/obo/HP_0008762							
HP:0008763	biolink:PhenotypicFeature	No social interaction		UMLS:C1849683	hp.json	No social interaction	http://purl.obolibrary.org/obo/HP_0008763							
HP:0008765	biolink:PhenotypicFeature	Auditory hallucinations	The false perception of sound.	MSH:D006212|SNOMEDCT_US:45150006|UMLS:C0233762	hp.json	Hallucinations of sound|Hearing sounds	http://purl.obolibrary.org/obo/HP_0008765							
HP:0008767	biolink:PhenotypicFeature	Self-mutilation of tongue and lips due to involuntary movements		UMLS:C1860219	hp.json	Self-mutilation of tongue and lips due to involuntary movements	http://purl.obolibrary.org/obo/HP_0008767							
HP:0008768	biolink:PhenotypicFeature	Inappropriate sexual behavior		SNOMEDCT_US:248099006|UMLS:C0474420	hp.json	Inappropriate sexual behavior|Inappropriate sexual behaviour	http://purl.obolibrary.org/obo/HP_0008768							
HP:0008770	biolink:PhenotypicFeature	Obsessive-compulsive trait	The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.	UMLS:C1834433	hp.json	Obsessive-compulsive trait|Obsessive-compulsive traits	http://purl.obolibrary.org/obo/HP_0008770							
HP:0008771	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the ear	The presence of aplasia or developmental hypoplasia of the ear.	UMLS:C4024627	hp.json	Absent/small ear|Absent/underdeveloped ear	http://purl.obolibrary.org/obo/HP_0008771							
HP:0008772	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the external ear	The presence of aplasia or developmental hypoplasia of all or part of the external ear.	UMLS:C4024626	hp.json	Absent/small external ear|Absent/underdeveloped external ear	http://purl.obolibrary.org/obo/HP_0008772							
HP:0008773	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle ear	Aplasia or developmental hypoplasia of all or part of the middle ear.	UMLS:C4021529	hp.json	Absent/small middle ear|Absent/underdeveloped middle ear|Hypoplastic/aplastic middle ear structures|Middle ear hypoplasia/aplasia	http://purl.obolibrary.org/obo/HP_0008773							
HP:0008774	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the inner ear	Aplasia or developmental hypoplasia of the inner ear.	UMLS:C4024625	hp.json	Absent/small inner ear|Absent/underdeveloped inner ear	http://purl.obolibrary.org/obo/HP_0008774							
HP:0008775	biolink:PhenotypicFeature	Abnormal prostate morphology	An abnormality of the prostate.	UMLS:C0747987	hp.json	Abnormality of the prostate	http://purl.obolibrary.org/obo/HP_0008775							
HP:0008776	biolink:PhenotypicFeature	Abnormal renal artery morphology	Any structural abnormality of the renal artery.	UMLS:C4024624	hp.json	Abnormal kidney artery|Abnormality of the renal artery	http://purl.obolibrary.org/obo/HP_0008776							
HP:0008777	biolink:PhenotypicFeature	Abnormal vocal cord morphology	An abnormality of the vocal cord.	UMLS:C0262665	hp.json	Abnormality of the vocal cords	http://purl.obolibrary.org/obo/HP_0008777							
HP:0008780	biolink:PhenotypicFeature	Congenital bilateral hip dislocation		SNOMEDCT_US:10155006|UMLS:C0158713	hp.json		http://purl.obolibrary.org/obo/HP_0008780							
HP:0008783	biolink:PhenotypicFeature	Wide proximal femoral metaphysis	Increased width of the proximal part of the shaft (metaphysis) of the femur.	UMLS:C4024623	hp.json	Wide metaphysis of innermost thighbone	http://purl.obolibrary.org/obo/HP_0008783							
HP:0008784	biolink:PhenotypicFeature	Wide capital femoral epiphyses	Abnormally wide morphology of the proximal epiphysis of the femur.	UMLS:C4024622	hp.json	Wide end part of innermost thighbone	http://purl.obolibrary.org/obo/HP_0008784							
HP:0008785	biolink:PhenotypicFeature	Delayed ossification of pubic rami	Delayed maturation and calcification of the rami (branches) of the pubic bone.	UMLS:C1865363	hp.json		http://purl.obolibrary.org/obo/HP_0008785							
HP:0008786	biolink:PhenotypicFeature	Iliac crest serration	Irregularities of the iliac crest that produce the appearance of a lace border around it.	UMLS:C1857186	hp.json	Irregular lacy iliac crest|Lacy appearance of iliac crest	http://purl.obolibrary.org/obo/HP_0008786							
HP:0008788	biolink:PhenotypicFeature	Delayed pubic bone ossification	Delayed maturation and calcification of the pubic bone.	UMLS:C1861528|UMLS:C1866710|UMLS:C4280411	hp.json	Delayed maturation fo pubic bone|Delayed mineralization of pubic bone|Absent pubic ossification in infancy	http://purl.obolibrary.org/obo/HP_0008788							hposlim_core
HP:0008789	biolink:PhenotypicFeature	Cone-shaped capital femoral epiphysis	A cone-shaped deformity of the proximal epiphysis of the femur.	UMLS:C1846157	hp.json	Cone-shaped end part of innermost thighbone	http://purl.obolibrary.org/obo/HP_0008789							
HP:0008794	biolink:PhenotypicFeature	Dysplastic iliac wing	A general term that describes a congenital defect in the iliac wing resulting from abnormal development.	UMLS:C1837487	hp.json	Dysplastic iliac wings	http://purl.obolibrary.org/obo/HP_0008794							
HP:0008796	biolink:PhenotypicFeature	Externally rotated hips		UMLS:C1846339	hp.json	Externally rotated hips	http://purl.obolibrary.org/obo/HP_0008796							
HP:0008797	biolink:PhenotypicFeature	Early ossification of capital femoral epiphyses	Developmental acceleration of ossification of the proximal epiphysis of the femur.	UMLS:C4024621	hp.json		http://purl.obolibrary.org/obo/HP_0008797							
HP:0008798	biolink:PhenotypicFeature	Widened greater sciatic notch	The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.	UMLS:C4024620	hp.json	Widened sacrosciatic notch|Widening of the sacrosciatic notch	http://purl.obolibrary.org/obo/HP_0008798							
HP:0008800	biolink:PhenotypicFeature	Limited hip movement	A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.	UMLS:C1851542	hp.json	Limited hip movement	http://purl.obolibrary.org/obo/HP_0008800							
HP:0008801	biolink:PhenotypicFeature	Hypoplasia of the lesser trochanter	Underdevelopment of the lesser trochanter.	UMLS:C1840062	hp.json	Lesser trochanter hypoplasia	http://purl.obolibrary.org/obo/HP_0008801							
HP:0008802	biolink:PhenotypicFeature	Hypoplasia of the femoral head	Underdevelopment of the femoral head.	UMLS:C1856920	hp.json	Small head of thigh bone|Hypoplastic femoral head|Small femoral heads	http://purl.obolibrary.org/obo/HP_0008802							
HP:0008803	biolink:PhenotypicFeature	obsolete Narrow sacroiliac notch			hp.json		http://purl.obolibrary.org/obo/HP_0008803							
HP:0008804	biolink:PhenotypicFeature	Broad femoral head	Increased width of the femoral head.	UMLS:C4024619	hp.json	Wide head of thigh bone	http://purl.obolibrary.org/obo/HP_0008804							
HP:0008807	biolink:PhenotypicFeature	Acetabular dysplasia	The presence of developmental dysplasia of the acetabular part of hip bone.	MSH:D006617|UMLS:C1328407	hp.json	Dysplastic acetabulae	http://purl.obolibrary.org/obo/HP_0008807							
HP:0008808	biolink:PhenotypicFeature	High iliac wing	Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).	UMLS:C1969680	hp.json	High iliac wings|Narrow, high iliac wings	http://purl.obolibrary.org/obo/HP_0008808							
HP:0008812	biolink:PhenotypicFeature	Flattened femoral head	An abnormally flattened femoral head.	UMLS:C1860601	hp.json	Flat head of thigh bone|Flattened femoral heads	http://purl.obolibrary.org/obo/HP_0008812							
HP:0008817	biolink:PhenotypicFeature	Aplastic pubic bones		UMLS:C1848660	hp.json	Absent pubic bones	http://purl.obolibrary.org/obo/HP_0008817							
HP:0008818	biolink:PhenotypicFeature	Large iliac wing	Increased size of the ilium ala.	UMLS:C4024618	hp.json	Large iliac wings	http://purl.obolibrary.org/obo/HP_0008818							
HP:0008819	biolink:PhenotypicFeature	Narrow femoral neck	An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	UMLS:C1863739	hp.json	Narrow neck of thigh bone|Narrow femoral necks	http://purl.obolibrary.org/obo/HP_0008819							
HP:0008820	biolink:PhenotypicFeature	Absent ossification of capital femoral epiphysis	Lack of ossification of the proximal epiphysis of the femur.	UMLS:C1968686	hp.json	Absent ossification of femoral capital epiphyses	http://purl.obolibrary.org/obo/HP_0008820							
HP:0008821	biolink:PhenotypicFeature	Hypoplastic inferior ilia		UMLS:C1837078	hp.json		http://purl.obolibrary.org/obo/HP_0008821							
HP:0008822	biolink:PhenotypicFeature	Hypoplastic ischiopubic rami	Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.	UMLS:C4024617	hp.json		http://purl.obolibrary.org/obo/HP_0008822							
HP:0008823	biolink:PhenotypicFeature	Hypoplastic inferior pubic rami		UMLS:C1853573	hp.json		http://purl.obolibrary.org/obo/HP_0008823							
HP:0008824	biolink:PhenotypicFeature	Hypoplastic iliac body	Underdevelopment of the body of ilium.	UMLS:C1849034	hp.json	Hypoplastic iliac bodies|Small iliac bodies	http://purl.obolibrary.org/obo/HP_0008824							
HP:0008826	biolink:PhenotypicFeature	Dislocation of the femoral head	Joint dislocation of the femoral head.	UMLS:C1859446	hp.json	Dislocated head of thigh bone|Dislocated femoral heads	http://purl.obolibrary.org/obo/HP_0008826							
HP:0008828	biolink:PhenotypicFeature	Delayed proximal femoral epiphyseal ossification	Developmental delay of ossification of the proximal epiphysis of the femur.	UMLS:C1855222	hp.json	Delayed ossification of the proximal femoral epiphysis|Delayed ossification proximal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0008828							
HP:0008829	biolink:PhenotypicFeature	Delayed femoral head ossification	Delayed ossification of the femoral head.	UMLS:C1846446|UMLS:C4280410	hp.json	Delayed maturation of the head of the thigh bone	http://purl.obolibrary.org/obo/HP_0008829							
HP:0008830	biolink:PhenotypicFeature	Hypoplastic pubic rami		UMLS:C1969176	hp.json		http://purl.obolibrary.org/obo/HP_0008830							
HP:0008833	biolink:PhenotypicFeature	Irregular acetabular roof		UMLS:C1834975	hp.json		http://purl.obolibrary.org/obo/HP_0008833							
HP:0008835	biolink:PhenotypicFeature	Multicentric femoral head ossification	There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.	UMLS:C1846447	hp.json		http://purl.obolibrary.org/obo/HP_0008835							
HP:0008838	biolink:PhenotypicFeature	Stippled calcification proximal humeral epiphyses		UMLS:C1857243	hp.json	Speckled calcifications in end part of innermost long bone of upper arm	http://purl.obolibrary.org/obo/HP_0008838							
HP:0008839	biolink:PhenotypicFeature	Hypoplastic pelvis	Underdevelopment of the bony pelvis.	UMLS:C3536734	hp.json	Hypoplastic pelvic bones|Small pelvis	http://purl.obolibrary.org/obo/HP_0008839							hposlim_core
HP:0008843	biolink:PhenotypicFeature	Hip osteoarthritis		MSH:D015207|SNOMEDCT_US:239872002|UMLS:C0029410	hp.json	Osteoarthritis of hip	http://purl.obolibrary.org/obo/HP_0008843							
HP:0008845	biolink:PhenotypicFeature	Mesomelic short stature	A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).	UMLS:C1855274	hp.json	Mesomelic dwarfism|Dwarfism, short limb mesomelic|Short stature, disproportionate mesomelic|Short stature, mesomelic	http://purl.obolibrary.org/obo/HP_0008845							
HP:0008846	biolink:PhenotypicFeature	Severe intrauterine growth retardation	Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.	UMLS:C1855843	hp.json	Severe prenatal growth deficiency|Intrauterine growth retardation, severe	http://purl.obolibrary.org/obo/HP_0008846							
HP:0008848	biolink:PhenotypicFeature	Moderately short stature	A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.	UMLS:C1861519	hp.json	Moderate short stature|Short stature, moderate	http://purl.obolibrary.org/obo/HP_0008848							
HP:0008850	biolink:PhenotypicFeature	Severe postnatal growth retardation	Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.	UMLS:C1857641	hp.json	Marked growth retardation|Severe growth delay in children|Severe postnatal growth failure|Severe postnatal growth deficiency	http://purl.obolibrary.org/obo/HP_0008850							
HP:0008855	biolink:PhenotypicFeature	Moderate postnatal growth retardation	A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.	UMLS:C4024616	hp.json	Moderate growth delay in children	http://purl.obolibrary.org/obo/HP_0008855							
HP:0008857	biolink:PhenotypicFeature	Neonatal short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.	UMLS:C3149908	hp.json	Short-trunk dwarfism identifiable at birth	http://purl.obolibrary.org/obo/HP_0008857							
HP:0008866	biolink:PhenotypicFeature	Failure to thrive secondary to recurrent infections	Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.	UMLS:C1832323	hp.json	Faltering weight secondary to recurrent infections|Weight faltering secondary to recurrent infections	http://purl.obolibrary.org/obo/HP_0008866							
HP:0008872	biolink:PhenotypicFeature	Feeding difficulties in infancy	Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.	UMLS:C2674608	hp.json		http://purl.obolibrary.org/obo/HP_0008872							
HP:0008873	biolink:PhenotypicFeature	Disproportionate short-limb short stature	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.	UMLS:C1849937	hp.json	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							hposlim_core
HP:0008883	biolink:PhenotypicFeature	Mild intrauterine growth retardation	Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.	UMLS:C1840006	hp.json	Mild prenatal growth deficiency	http://purl.obolibrary.org/obo/HP_0008883							
HP:0008887	biolink:PhenotypicFeature	Adipose tissue loss	A loss of adipose tissue.	UMLS:C4024615	hp.json	Loss of fat tissue	http://purl.obolibrary.org/obo/HP_0008887							
HP:0008890	biolink:PhenotypicFeature	Severe short-limb dwarfism		UMLS:C1860105	hp.json		http://purl.obolibrary.org/obo/HP_0008890							
HP:0008897	biolink:PhenotypicFeature	Postnatal growth retardation	Slow or limited growth after birth.	UMLS:C1859778	hp.json	Growth delay as children|Growth retardation as children|Postnatal growth deceleration|Postnatal growth deficiency|Postnatal growth failure	http://purl.obolibrary.org/obo/HP_0008897							
HP:0008905	biolink:PhenotypicFeature	Rhizomelia	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).	UMLS:C1866730	hp.json	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							hposlim_core
HP:0008909	biolink:PhenotypicFeature	Lethal short-limbed short stature		UMLS:C2674171	hp.json	Lethal micromelic dwarfism|Lethal short-limbed dwarfism	http://purl.obolibrary.org/obo/HP_0008909							
HP:0008915	biolink:PhenotypicFeature	Childhood-onset truncal obesity	Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.	UMLS:C1859846	hp.json	Truncal obesity apparent in childhood	http://purl.obolibrary.org/obo/HP_0008915							
HP:0008921	biolink:PhenotypicFeature	Neonatal short-limb short stature	A type of short-limbed dwarfism that is manifest beginning in the neonatal period.	UMLS:C1850171	hp.json	Short limb dwarfism recognizable at birth|Short-limb dwarfism identifiable at birth|Short-limbed dwarfism identifiable at birth|Short limb dwarfism recognisable at birth|Dwarfism, neonatal short-limbed|Neonatal short-limbed dwarfism|Short-limb dwarfism identifiable neonatally	http://purl.obolibrary.org/obo/HP_0008921							
HP:0008922	biolink:PhenotypicFeature	Childhood-onset short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.	UMLS:C3148833	hp.json	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							
HP:0008929	biolink:PhenotypicFeature	Asymmetric short stature		UMLS:C4024614	hp.json		http://purl.obolibrary.org/obo/HP_0008929							
HP:0008935	biolink:PhenotypicFeature	Generalized neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.	UMLS:C1845123	hp.json	Generalized low muscle tone in neonate|Generalised low muscle tone in neonate|Generalised neonatal hypotonia|Hypotonia, neonatal, generalised|Hypotonia, neonatal, generalized	http://purl.obolibrary.org/obo/HP_0008935							
HP:0008936	biolink:PhenotypicFeature	Muscular hypotonia of the trunk	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.	UMLS:C1853743	hp.json	Low muscle tone in trunk|Axial hypotonia|Truncal hypotonia	http://purl.obolibrary.org/obo/HP_0008936							
HP:0008940	biolink:PhenotypicFeature	Generalized lymphadenopathy	A generalized form of lymphadenopathy.	SNOMEDCT_US:274741002|UMLS:C0476486	hp.json	Generalized swelling of lymph nodes|Swollen lymph nodes affecting all regions of the body|Generalised lymphadenopathy|Generalised swelling of lymph nodes	http://purl.obolibrary.org/obo/HP_0008940							
HP:0008942	biolink:PhenotypicFeature	Acute rhabdomyolysis	An acute form of rhabdomyolysis.	UMLS:C3807306	hp.json	Rhabdomyolysis, acute	http://purl.obolibrary.org/obo/HP_0008942							
HP:0008944	biolink:PhenotypicFeature	Distal lower limb amyotrophy	Muscular atrophy of distal leg muscles.	UMLS:C1836451|UMLS:C1866863|UMLS:C3806644	hp.json	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							
HP:0008945	biolink:PhenotypicFeature	Loss of ability to walk in early childhood		UMLS:C1835993	hp.json		http://purl.obolibrary.org/obo/HP_0008945							
HP:0008946	biolink:PhenotypicFeature	Pelvic girdle amyotrophy	Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.	UMLS:C4021528	hp.json	Hip girdle amyotrophy	http://purl.obolibrary.org/obo/HP_0008946							
HP:0008947	biolink:PhenotypicFeature	Infantile muscular hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.	UMLS:C1860834	hp.json	Decreased muscle tone in infant|Hypotonia early|Hypotonia in infancy|Hypotonia, early|Infantile hypotonia	http://purl.obolibrary.org/obo/HP_0008947							
HP:0008948	biolink:PhenotypicFeature	Proximal upper limb amyotrophy	Muscular atrophy affecting proximally located muscles of the arms.	UMLS:C1866013	hp.json	Proximal muscle atrophy in upper limbs|Proximal upper limb muscle atrophy	http://purl.obolibrary.org/obo/HP_0008948							
HP:0008952	biolink:PhenotypicFeature	Shoulder muscle hypoplasia	Underdevelopment of muscles of the shoulder.	UMLS:C1969001	hp.json	Underdeveloped shoulder muscle	http://purl.obolibrary.org/obo/HP_0008952							
HP:0008953	biolink:PhenotypicFeature	Pectoralis major hypoplasia	Underdevelopment of the pectoralis major.	UMLS:C1840086	hp.json	Pectoralis major muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0008953							
HP:0008954	biolink:PhenotypicFeature	Intrinsic hand muscle atrophy	Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.	UMLS:C1864716	hp.json		http://purl.obolibrary.org/obo/HP_0008954							
HP:0008955	biolink:PhenotypicFeature	Progressive distal muscular atrophy	Progressive muscular atrophy affecting muscles in the distal portions of the extremities.	UMLS:C4024613	hp.json		http://purl.obolibrary.org/obo/HP_0008955							
HP:0008956	biolink:PhenotypicFeature	Proximal lower limb amyotrophy	Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.	UMLS:C1836767	hp.json	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							
HP:0008959	biolink:PhenotypicFeature	Distal upper limb muscle weakness	Reduced strength of the distal musculature of the arms.	UMLS:C3150620	hp.json		http://purl.obolibrary.org/obo/HP_0008959							
HP:0008962	biolink:PhenotypicFeature	Calf muscle hypoplasia	Underdevelopment of the muscuklature of the calf.	UMLS:C3805450	hp.json	Underdeveloped calf muscles|Hypoplastic calf muscles	http://purl.obolibrary.org/obo/HP_0008962							
HP:0008963	biolink:PhenotypicFeature	Tibialis muscle weakness	Muscle weakness affecting the tibialis anterior muscle.	UMLS:C4024612	hp.json		http://purl.obolibrary.org/obo/HP_0008963							
HP:0008964	biolink:PhenotypicFeature	Nonprogressive muscular atrophy	Muscular atrophy that does not display a progression in severity with time.	UMLS:C4024611	hp.json		http://purl.obolibrary.org/obo/HP_0008964							
HP:0008967	biolink:PhenotypicFeature	Exercise-induced muscle stiffness	A type of muscle stiffness that occurs following physical exertion.	UMLS:C1855579	hp.json	Exercise-induced muscle stiffness|Muscle stiffness with exercise|Muscle stiffness, exercise-induced	http://purl.obolibrary.org/obo/HP_0008967							
HP:0008968	biolink:PhenotypicFeature	Muscle hypertrophy of the lower extremities	Muscle hypertrophy primarily affecting the legs.	UMLS:C1850663	hp.json		http://purl.obolibrary.org/obo/HP_0008968							
HP:0008969	biolink:PhenotypicFeature	Leg muscle stiffness		UMLS:C4024610	hp.json		http://purl.obolibrary.org/obo/HP_0008969							
HP:0008970	biolink:PhenotypicFeature	Scapulohumeral muscular dystrophy		MSH:C562932|SNOMEDCT_US:240074006|UMLS:C0410192	hp.json		http://purl.obolibrary.org/obo/HP_0008970							
HP:0008972	biolink:PhenotypicFeature	Decreased activity of mitochondrial respiratory chain	Decreased activity of the mitochondrial respiratory chain.	UMLS:C1835995|UMLS:C3276441|UMLS:C4024609	hp.json	Decreased activities of mitochondrial-encoded respiratory chain complexes|Decreased activity of mitochondrial respiratory complexes	http://purl.obolibrary.org/obo/HP_0008972							
HP:0008978	biolink:PhenotypicFeature	Necrotizing myopathy		UMLS:C4024608	hp.json		http://purl.obolibrary.org/obo/HP_0008978							
HP:0008981	biolink:PhenotypicFeature	Calf muscle hypertrophy	Muscle hypertrophy affecting the calf muscles.	UMLS:C1843057	hp.json	Increased size of calf muscles|Calf hypertrophy|Muscular hypertrophy of the calf muscles	http://purl.obolibrary.org/obo/HP_0008981							
HP:0008984	biolink:PhenotypicFeature	Neck muscle hypoplasia	Underdevelopment of muscles of the neck.	UMLS:C1969000|UMLS:C4280408|UMLS:C4280409	hp.json	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							
HP:0008985	biolink:PhenotypicFeature	Increased intramuscular fat	An abnormal increase in the amount of intramuscular fat tissue.	UMLS:C1835389	hp.json	Increased IM fat|Increased intramuscular fat	http://purl.obolibrary.org/obo/HP_0008985							
HP:0008986	biolink:PhenotypicFeature	Agenesis of the diaphragm	Congenital lack, i.e., aplasia of the diaphragm.	SNOMEDCT_US:702613006|SNOMEDCT_US:72424001|UMLS:C0221360	hp.json	Absent diaphragm|Agenesis of diaphragm	http://purl.obolibrary.org/obo/HP_0008986							
HP:0008988	biolink:PhenotypicFeature	Pelvic girdle muscle atrophy	Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).	UMLS:C0240679	hp.json	Pelvic girdle muscle wasting	http://purl.obolibrary.org/obo/HP_0008988							
HP:0008991	biolink:PhenotypicFeature	Exercise-induced leg cramps	Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.	UMLS:C4024607	hp.json		http://purl.obolibrary.org/obo/HP_0008991							
HP:0008993	biolink:PhenotypicFeature	Increased intraabdominal fat	An abnormal increase in the amount of intraabdominal fat tissue.	UMLS:C1835390	hp.json		http://purl.obolibrary.org/obo/HP_0008993							
HP:0008994	biolink:PhenotypicFeature	Proximal muscle weakness in lower limbs	A lack of strength of the proximal muscles of the legs.	UMLS:C1866010	hp.json	Muscle weakness, proximal, lower limbs	http://purl.obolibrary.org/obo/HP_0008994							
HP:0008997	biolink:PhenotypicFeature	Proximal muscle weakness in upper limbs	A lack of strength of the proximal muscles of the arms.	UMLS:C1866012	hp.json		http://purl.obolibrary.org/obo/HP_0008997							
HP:0008998	biolink:PhenotypicFeature	Pectoralis hypoplasia	Underdevelopment of the pectoral muscle.	UMLS:C1846477	hp.json	Small pec muscle|Underdeveloped pec muscle|Hypoplastic pectoral muscle	http://purl.obolibrary.org/obo/HP_0008998							
HP:0009002	biolink:PhenotypicFeature	Loss of truncal subcutaneous adipose tissue	Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.	UMLS:C1835384	hp.json	Loss of fat tissue in trunk|Loss of subcutaneous truncal adipose tissue|Loss of truncal adipose tissue	http://purl.obolibrary.org/obo/HP_0009002							
HP:0009003	biolink:PhenotypicFeature	Increased subcutaneous truncal adipose tissue	The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.	UMLS:C1837781	hp.json	Increased fat below the skin in trunk	http://purl.obolibrary.org/obo/HP_0009003							
HP:0009004	biolink:PhenotypicFeature	Hypoplasia of the musculature	Underdevelopment of the musculature.	SNOMEDCT_US:205530002|UMLS:C0240414	hp.json	Poorly developed skeletal musculature|Underdeveloped muscle|Muscle hypoplasia|Underdeveloped muscles	http://purl.obolibrary.org/obo/HP_0009004							
HP:0009005	biolink:PhenotypicFeature	Weakness of the intrinsic hand muscles		UMLS:C1834536	hp.json	Intrinsic hand muscle weakness	http://purl.obolibrary.org/obo/HP_0009005							
HP:0009007	biolink:PhenotypicFeature	Biceps hypoplasia	Underdevelopment of the biceps muscle.	UMLS:C1862499	hp.json	Underdeveloped biceps|Hypoplastic biceps	http://purl.obolibrary.org/obo/HP_0009007							
HP:0009011	biolink:PhenotypicFeature	Hypoplasia of serratus anterior muscle	Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.	UMLS:C1868167	hp.json		http://purl.obolibrary.org/obo/HP_0009011							
HP:0009013	biolink:PhenotypicFeature	Congenital absence of gluteal muscles		MSH:C535561|UMLS:C2930932	hp.json		http://purl.obolibrary.org/obo/HP_0009013							
HP:0009016	biolink:PhenotypicFeature	Upper limb muscle hypoplasia	Underdevelopment of muscles of the arm.	UMLS:C1846478	hp.json	Underdevelopment of upper limb muscles	http://purl.obolibrary.org/obo/HP_0009016							
HP:0009017	biolink:PhenotypicFeature	Loss of gluteal subcutaneous adipose tissue	Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.	UMLS:C4024606	hp.json	Loss of fat tissue below the skin in gluts	http://purl.obolibrary.org/obo/HP_0009017							
HP:0009019	biolink:PhenotypicFeature	Progressive loss of facial adipose tissue		UMLS:C1837510	hp.json	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	biolink:PhenotypicFeature	Exercise-induced muscle fatigue	An abnormally increased tendency towards muscle fatigue induced by physical exercise.	UMLS:C1855580	hp.json		http://purl.obolibrary.org/obo/HP_0009020							
HP:0009023	biolink:PhenotypicFeature	Abdominal wall muscle weakness	Decreased strength of the abdominal musculature.	UMLS:C4021527	hp.json	Lax abdominal musculature	http://purl.obolibrary.org/obo/HP_0009023							
HP:0009025	biolink:PhenotypicFeature	Increased connective tissue	The presence of an abnormally increased amount of connective tissue.	UMLS:C1866021	hp.json		http://purl.obolibrary.org/obo/HP_0009025							
HP:0009026	biolink:PhenotypicFeature	Hypoplasia of latissimus dorsi muscle	Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.	UMLS:C3805860	hp.json		http://purl.obolibrary.org/obo/HP_0009026							
HP:0009027	biolink:PhenotypicFeature	Foot dorsiflexor weakness	Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.	SNOMEDCT_US:6077001|UMLS:C0085684|UMLS:C1866141	hp.json	Foot drop|Inability to heel walk|Inability to walk on heels|Foot extensor weakness|Footdrop	http://purl.obolibrary.org/obo/HP_0009027							
HP:0009028	biolink:PhenotypicFeature	Generalized weakness of limb muscles	Generalized weakness of the muscles of the arms and legs.	UMLS:C4024605	hp.json	Generalised weakness of limb muscles	http://purl.obolibrary.org/obo/HP_0009028							
HP:0009031	biolink:PhenotypicFeature	Amyotrophy of ankle musculature	Atrophy of the muscles of the ankle.	UMLS:C4024604	hp.json		http://purl.obolibrary.org/obo/HP_0009031							
HP:0009037	biolink:PhenotypicFeature	Segmental spinal muscular atrophy		MSH:C566670|UMLS:C1866774	hp.json		http://purl.obolibrary.org/obo/HP_0009037							
HP:0009042	biolink:PhenotypicFeature	Marked muscular hypertrophy	Severe hypertrophy (increase in size) of muscle cells.	UMLS:C1846013	hp.json		http://purl.obolibrary.org/obo/HP_0009042							
HP:0009044	biolink:PhenotypicFeature	obsolete Hypoplasia of deltoid muscle			hp.json		http://purl.obolibrary.org/obo/HP_0009044							
HP:0009045	biolink:PhenotypicFeature	Exercise-induced rhabdomyolysis	Rhabdomyolysis induced by exercise.	UMLS:C4021526	hp.json	Rhabdomyolysis with exercise	http://purl.obolibrary.org/obo/HP_0009045							
HP:0009046	biolink:PhenotypicFeature	Difficulty running	Reduced ability to run.	SNOMEDCT_US:282479002|UMLS:C0560346	hp.json	Difficulty running	http://purl.obolibrary.org/obo/HP_0009046							
HP:0009049	biolink:PhenotypicFeature	Peroneal muscle atrophy	Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).	UMLS:C1389118	hp.json	Peroneal atrophy	http://purl.obolibrary.org/obo/HP_0009049							
HP:0009050	biolink:PhenotypicFeature	Quadriceps muscle atrophy	Muscular atrophy involving the quadriceps muscle.	UMLS:C4024603	hp.json	Wasting of quad muscles	http://purl.obolibrary.org/obo/HP_0009050							
HP:0009051	biolink:PhenotypicFeature	Increased muscle glycogen content	An increased amount of glycogen in muscle tissue.	UMLS:C1968729	hp.json		http://purl.obolibrary.org/obo/HP_0009051							
HP:0009053	biolink:PhenotypicFeature	Distal lower limb muscle weakness	Reduced strength of the distal musculature of the legs.	UMLS:C1836450	hp.json	Distal muscle weakness in lower limbs|Muscle weakness, lower limb, distal	http://purl.obolibrary.org/obo/HP_0009053							
HP:0009054	biolink:PhenotypicFeature	Scapuloperoneal myopathy		MSH:C536624|UMLS:C2931268	hp.json		http://purl.obolibrary.org/obo/HP_0009054							
HP:0009055	biolink:PhenotypicFeature	Generalized limb muscle atrophy	Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.	UMLS:C1838114	hp.json	Generalized muscle wasting|Generalised limb muscle atrophy|Generalised muscle atrophy, proximal and distal|Generalised muscle wasting|Generalized muscle atrophy, proximal and distal	http://purl.obolibrary.org/obo/HP_0009055							
HP:0009056	biolink:PhenotypicFeature	Loss of subcutaneous adipose tissue from upper limbs		UMLS:C4024602	hp.json	Loss of fat tissue below the skin from upper limbs	http://purl.obolibrary.org/obo/HP_0009056							
HP:0009058	biolink:PhenotypicFeature	Increased muscle lipid content	An abnormal accumulation of lipids in skeletal muscle.	UMLS:C1837262	hp.json	Fat accumulation in muscle fibers|Fat deposits in muscle fibers|Increased muscle lipid content|Lipid accumulation in skeletal muscle|Skeletal muscle lipid accumulation|Fat accumulation in muscle fibres|Fat deposits in muscle fibres|Muscle lipidosis	http://purl.obolibrary.org/obo/HP_0009058							
HP:0009059	biolink:PhenotypicFeature	Congenital generalized lipodystrophy		MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032	hp.json	Congenital generalised lipodystrophy	http://purl.obolibrary.org/obo/HP_0009059							
HP:0009060	biolink:PhenotypicFeature	Scapular muscle atrophy	Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.	UMLS:C3805969	hp.json		http://purl.obolibrary.org/obo/HP_0009060							
HP:0009062	biolink:PhenotypicFeature	Infantile axial hypotonia	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.	UMLS:C3806604	hp.json	Hypotonia, axial, in infancy	http://purl.obolibrary.org/obo/HP_0009062							
HP:0009063	biolink:PhenotypicFeature	Progressive distal muscle weakness	Progressively reduced strength of the distal musculature.	UMLS:C1836609	hp.json	Muscle weakness, distal, progressive|Muscle weakness, progressive, distal	http://purl.obolibrary.org/obo/HP_0009063							
HP:0009064	biolink:PhenotypicFeature	Generalized lipodystrophy	Generalized degenerative changes of the fat tissue.	MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032	hp.json	Generalised lipodystrophy|Lipodystrophy, generalised|Lipodystrophy, generalized	http://purl.obolibrary.org/obo/HP_0009064							
HP:0009067	biolink:PhenotypicFeature	Progressive spinal muscular atrophy	Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	UMLS:C4082951	hp.json	Progressive spinal muscle degeneration|Progressive spinal muscle wasting	http://purl.obolibrary.org/obo/HP_0009067							
HP:0009069	biolink:PhenotypicFeature	Lethal infantile mitochondrial myopathy		MSH:C564017|UMLS:C1838876	hp.json		http://purl.obolibrary.org/obo/HP_0009069							
HP:0009071	biolink:PhenotypicFeature	Inflammatory myopathy	Chronic muscle inflammation accompanied by muscle weakness.	MSH:D009220|SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121	hp.json		http://purl.obolibrary.org/obo/HP_0009071							
HP:0009072	biolink:PhenotypicFeature	Decreased Achilles reflex	Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.	UMLS:C1837323	hp.json	Hyporeflexia at ankle joints	http://purl.obolibrary.org/obo/HP_0009072							
HP:0009073	biolink:PhenotypicFeature	Progressive proximal muscle weakness	Lack of strength of the proximal muscles that becomes progressively more severe.	UMLS:C1836156	hp.json	Muscle weakness, progressive, proximal	http://purl.obolibrary.org/obo/HP_0009073							
HP:0009077	biolink:PhenotypicFeature	Weakness of long finger extensor muscles		UMLS:C4024601	hp.json		http://purl.obolibrary.org/obo/HP_0009077							
HP:0009084	biolink:PhenotypicFeature	Midline notch of upper alveolar ridge		UMLS:C1851853	hp.json	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	biolink:PhenotypicFeature	Alveolar ridge overgrowth	Increased width of the alveolar ridges.	UMLS:C1856164|UMLS:C1865598	hp.json	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							hposlim_core
HP:0009087	biolink:PhenotypicFeature	Posteriorly placed tongue		UMLS:C4024600	hp.json	Posteriorly placed tongue	http://purl.obolibrary.org/obo/HP_0009087							
HP:0009088	biolink:PhenotypicFeature	Speech articulation difficulties	Impairment in the physical production of speech sounds.	UMLS:C1865313	hp.json		http://purl.obolibrary.org/obo/HP_0009088							
HP:0009090	biolink:PhenotypicFeature	obsolete Facial diplegic appearance			hp.json		http://purl.obolibrary.org/obo/HP_0009090							
HP:0009092	biolink:PhenotypicFeature	Progressive alveolar ridge hypertropy		UMLS:C1854934|UMLS:C4280407	hp.json	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	biolink:PhenotypicFeature	Cleft lower alveolar ridge		UMLS:C1849350|UMLS:C4280404|UMLS:C4280405|UMLS:C4280406	hp.json	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	biolink:PhenotypicFeature	Chronic oral candidiasis	Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.	UMLS:C4024599	hp.json	Chronic oral thrush	http://purl.obolibrary.org/obo/HP_0009098							
HP:0009099	biolink:PhenotypicFeature	Median cleft palate	Cleft palate of the midline of the palate.	UMLS:C1850968	hp.json	Central cleft palate|Midline cleft palate	http://purl.obolibrary.org/obo/HP_0009099							
HP:0009100	biolink:PhenotypicFeature	Thick anterior alveolar ridges		UMLS:C1859377	hp.json	Thick anterior alveolar process of jaw	http://purl.obolibrary.org/obo/HP_0009100							
HP:0009101	biolink:PhenotypicFeature	Submucous cleft lip	A cleft of the lip with overlying mucous membrane.	UMLS:C1839277	hp.json	Submucous labial cleft	http://purl.obolibrary.org/obo/HP_0009101							
HP:0009102	biolink:PhenotypicFeature	Anterior open-bite malocclusion	Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.	UMLS:C4024598	hp.json	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							
HP:0009103	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the pelvis		UMLS:C4024597	hp.json	Absent/small pelvis|Absent/underdeveloped pelvis	http://purl.obolibrary.org/obo/HP_0009103							
HP:0009104	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the pubic bone	Absence or underdevelopment of the pubic bone.	UMLS:C1849305	hp.json	Absent/small pubic bones|Absent/underdeveloped pubic bones|Hypoplastic/aplastic pubic bones	http://purl.obolibrary.org/obo/HP_0009104							
HP:0009105	biolink:PhenotypicFeature	Abnormal ossification of the pubic bone	Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.	UMLS:C4024596|UMLS:C4280403	hp.json	Abnormal maturation of the pubic bone	http://purl.obolibrary.org/obo/HP_0009105							
HP:0009106	biolink:PhenotypicFeature	Abnormal pelvis bone ossification	An abnormality of the formation and mineralization of any bone of the bony pelvis.	UMLS:C4021525|UMLS:C4280402	hp.json	Abnormal maturation of the pelvis bone|Abnormal ossification involving the bones of the pelvis	http://purl.obolibrary.org/obo/HP_0009106							
HP:0009107	biolink:PhenotypicFeature	Abnormal ossification involving the femoral head and neck		UMLS:C4024595	hp.json	Abnormal maturation of thigh bone head and neck	http://purl.obolibrary.org/obo/HP_0009107							
HP:0009108	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the femoral head and neck		UMLS:C4024594	hp.json	Absent/small head and neck of thighbone|Absent/underdeveloped head and neck of thighbone	http://purl.obolibrary.org/obo/HP_0009108							
HP:0009109	biolink:PhenotypicFeature	Denervation of the diaphragm	Interruption of the innervation of the diaphragm.	UMLS:C1858529	hp.json		http://purl.obolibrary.org/obo/HP_0009109							
HP:0009110	biolink:PhenotypicFeature	Diaphragmatic eventration	A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.	MSH:D003965|SNOMEDCT_US:34168003|UMLS:C0011981	hp.json	Eventration of the diaphragm	http://purl.obolibrary.org/obo/HP_0009110							
HP:0009112	biolink:PhenotypicFeature	Aplasia of the left hemidiaphragm	Congenital absence of the left half of the diaphragm.	UMLS:C4024593	hp.json	Absent left hemidiaphragm|Left diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0009112							
HP:0009113	biolink:PhenotypicFeature	Diaphragmatic weakness	A decrease in the strength of the diaphragm.	SNOMEDCT_US:95438009|UMLS:C0521532|UMLS:C4020786	hp.json	Weak diaphragm|Diaphragmatic paraparesis|Diminished diaphragmatic motion	http://purl.obolibrary.org/obo/HP_0009113							
HP:0009115	biolink:PhenotypicFeature	Aplasia/hypoplasia involving the skeleton	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.	UMLS:C4024592	hp.json	Absent/small skeleton|Absent/underdeveloped skeleton	http://purl.obolibrary.org/obo/HP_0009115							
HP:0009116	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving bones of the skull		UMLS:C4024591	hp.json		http://purl.obolibrary.org/obo/HP_0009116							
HP:0009117	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the maxilla	Absence or underdevelopment of the maxilla.	UMLS:C4024590	hp.json	Underdevelopment of upper jaw bones|Underdevelopment of maxilla	http://purl.obolibrary.org/obo/HP_0009117							
HP:0009118	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the mandible	Absence or underdevelopment of the mandible.	MSH:D063173|UMLS:C3494426|UMLS:C4021371|UMLS:C4024589|UMLS:C4280261|UMLS:C4280401	hp.json		http://purl.obolibrary.org/obo/HP_0009118							
HP:0009119	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the frontal sinuses	Absence or underdevelopment of frontal sinus.	UMLS:C4024588	hp.json	Abnormally small frontal sinus	http://purl.obolibrary.org/obo/HP_0009119							
HP:0009120	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the sinuses	Absence or underdevelopment of a cranial sinus or sinuses.	UMLS:C4024587	hp.json		http://purl.obolibrary.org/obo/HP_0009120							
HP:0009121	biolink:PhenotypicFeature	Abnormal axial skeleton morphology	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.	UMLS:C4020785|UMLS:C4024586	hp.json	Abnormality of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009121							
HP:0009122	biolink:PhenotypicFeature	Aplasia/hypoplasia affecting bones of the axial skeleton	Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.	UMLS:C4024585	hp.json		http://purl.obolibrary.org/obo/HP_0009122							
HP:0009123	biolink:PhenotypicFeature	Mixed hypo- and hyperpigmentation of the skin		UMLS:C4024584	hp.json		http://purl.obolibrary.org/obo/HP_0009123							
HP:0009124	biolink:PhenotypicFeature	Abnormal adipose tissue morphology	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.	UMLS:C4021524	hp.json	Abnormality of adipose tissue|Abnormality of fat tissue|Abnormality of fatty tissue	http://purl.obolibrary.org/obo/HP_0009124							
HP:0009125	biolink:PhenotypicFeature	Lipodystrophy	Degenerative changes of the fat tissue.	MSH:D008060|SNOMEDCT_US:71325002|UMLS:C0023787	hp.json	Inability to make and keep healthy fat tissue	http://purl.obolibrary.org/obo/HP_0009125							
HP:0009126	biolink:PhenotypicFeature	Increased adipose tissue	An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).	UMLS:C4024583	hp.json	Increased adipose tissue|Increased fat tissue	http://purl.obolibrary.org/obo/HP_0009126							
HP:0009127	biolink:PhenotypicFeature	Abnormality of the musculature of the limbs		UMLS:C4024582	hp.json	Abnormal limb muscles|Muscle issues in the arms and/or legs	http://purl.obolibrary.org/obo/HP_0009127							
HP:0009128	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the musculature of the extremities		UMLS:C4024581	hp.json	Absent/small muscles of extremities|Absent/underdeveloped muscles of extremities	http://purl.obolibrary.org/obo/HP_0009128							
HP:0009129	biolink:PhenotypicFeature	Upper limb amyotrophy	Muscular atrophy involving the muscles of the upper limbs.	UMLS:C4021523	hp.json	Amyotrophy involving the upper limbs	http://purl.obolibrary.org/obo/HP_0009129							
HP:0009130	biolink:PhenotypicFeature	Hand muscle atrophy	Muscular atrophy involving the muscles of the hand.	UMLS:C0239830	hp.json	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							
HP:0009131	biolink:PhenotypicFeature	Abnormality of the musculature of the thorax	A disease or lesion affecting the muscles of the thorax.	UMLS:C4024580	hp.json		http://purl.obolibrary.org/obo/HP_0009131							
HP:0009132	biolink:PhenotypicFeature	Abnormal tarsal bone mineral density	This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.	UMLS:C4021522	hp.json	Abnormality of bone mineral density involving tarsal bones	http://purl.obolibrary.org/obo/HP_0009132							
HP:0009134	biolink:PhenotypicFeature	Osteolysis involving bones of the feet		UMLS:C4024579	hp.json		http://purl.obolibrary.org/obo/HP_0009134							
HP:0009136	biolink:PhenotypicFeature	Duplication involving bones of the feet		UMLS:C4024578	hp.json	Duplication involving bones of the feet	http://purl.obolibrary.org/obo/HP_0009136							
HP:0009138	biolink:PhenotypicFeature	Synostosis involving bones of the lower limbs	An abnormal union between bones or parts of bones lower limbs.	UMLS:C4024577	hp.json	Fusion involving the bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0009138							
HP:0009139	biolink:PhenotypicFeature	Osteolysis involving bones of the lower limbs		UMLS:C4024576	hp.json		http://purl.obolibrary.org/obo/HP_0009139							
HP:0009140	biolink:PhenotypicFeature	Synostosis involving bones of the feet		UMLS:C4024575	hp.json	Fusion involving the bones of the feet	http://purl.obolibrary.org/obo/HP_0009140							
HP:0009141	biolink:PhenotypicFeature	Depletion of mitochondrial DNA in muscle tissue		UMLS:C4021521	hp.json	Depletion of mitochondrial dna in skeletal muscle tissue	http://purl.obolibrary.org/obo/HP_0009141							
HP:0009142	biolink:PhenotypicFeature	Duplication of bones involving the upper extremities		UMLS:C4024574	hp.json	Duplication of bones involving the upper extremities	http://purl.obolibrary.org/obo/HP_0009142							
HP:0009144	biolink:PhenotypicFeature	Supernumerary bones of the axial skeleton		UMLS:C4024573	hp.json		http://purl.obolibrary.org/obo/HP_0009144							
HP:0009145	biolink:PhenotypicFeature	Abnormal cerebral artery morphology	Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.	UMLS:C4021520	hp.json	Abnormality of cerebral artery|Abnormality of the cerebral arteries	http://purl.obolibrary.org/obo/HP_0009145							
HP:0009147	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 5th finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.	UMLS:C4024572	hp.json	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							
HP:0009148	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 5th finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.	UMLS:C4024571	hp.json	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							
HP:0009149	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 5th finger	A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021519	hp.json	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							
HP:0009150	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 5th finger	Abnormality of the proximal phalanx of the little (5th) finger.	UMLS:C4024570	hp.json	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							
HP:0009152	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 5th finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.	UMLS:C4024569	hp.json	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							
HP:0009153	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 5th finger	Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.	UMLS:C4024568	hp.json	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							
HP:0009154	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 5th finger	A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021518	hp.json	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							
HP:0009155	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 5th finger	A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4020783|UMLS:C4020784	hp.json	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							
HP:0009157	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 5th finger	Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4020782|UMLS:C4024567	hp.json	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							
HP:0009158	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 5th finger	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.	UMLS:C4024566	hp.json	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							
HP:0009159	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 5th finger	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.	UMLS:C4024565	hp.json	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							
HP:0009160	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 5th finger	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.	UMLS:C4024564	hp.json	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							
HP:0009161	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.	UMLS:C1834034	hp.json	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							
HP:0009162	biolink:PhenotypicFeature	Absent middle phalanx of 5th finger	Absence of the middle phalanx of the little (5th) finger.	UMLS:C3277750	hp.json	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							
HP:0009163	biolink:PhenotypicFeature	obsolete Abnormal form of the 5th finger			hp.json		http://purl.obolibrary.org/obo/HP_0009163							
HP:0009164	biolink:PhenotypicFeature	Abnormal calcification of the carpal bones		UMLS:C1968592	hp.json	Abnormal calcification of the wrist bones|Carpal calcifications	http://purl.obolibrary.org/obo/HP_0009164							
HP:0009165	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.	UMLS:C4024563	hp.json	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							
HP:0009166	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 5th finger	Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.	UMLS:C4024562	hp.json	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							
HP:0009167	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 5th finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.	UMLS:C4024561	hp.json	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							
HP:0009168	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 5th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.	UMLS:C4024560	hp.json	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							
HP:0009169	biolink:PhenotypicFeature	Broad middle phalanx of the 5th finger	Increased width of the middle phalanx of the 5th finger.	UMLS:C4021517	hp.json	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							
HP:0009170	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 5th finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.	UMLS:C4024559	hp.json		http://purl.obolibrary.org/obo/HP_0009170							
HP:0009171	biolink:PhenotypicFeature	Triangular epiphyses of the metacarpals	A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.	UMLS:C4024558	hp.json	Triangular end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009171							
HP:0009172	biolink:PhenotypicFeature	Abnormal 4th finger phalanx morphology	Abnormality of the phalanges of the 4th (ring) finger.	UMLS:C4021516	hp.json	Abnormal bones of 4th finger|Abnormality of the phalanges of the ring finger	http://purl.obolibrary.org/obo/HP_0009172							
HP:0009173	biolink:PhenotypicFeature	Curved middle phalanx of the 5th finger	Curved appearance of the middle phalanx of the 5th finger.	UMLS:C4024557	hp.json	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							
HP:0009174	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 4th finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.	UMLS:C4024556	hp.json	Abnormality of the end part of the ring finger	http://purl.obolibrary.org/obo/HP_0009174							
HP:0009175	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 5th finger	Patchy increase in bone density of the middle phalanx of the 5th finger.	UMLS:C4024555	hp.json	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							
HP:0009177	biolink:PhenotypicFeature	Proximal/middle symphalangism of 5th finger	Fusion of the proximal and middle phalanges of the 5th finger.	UMLS:C1836212	hp.json	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							
HP:0009178	biolink:PhenotypicFeature	Symphalangism of middle phalanx of 5th finger	Fusion of the middle phalanx of the 5th finger with another bone.	UMLS:C4024554	hp.json	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							
HP:0009179	biolink:PhenotypicFeature	Deviation of the 5th finger	Displacement of the 5th finger from its normal position.	UMLS:C4021515	hp.json	Displaced little finger|Displaced pinkie finger|Displaced pinky finger|Laterally displaced fifth finger	http://purl.obolibrary.org/obo/HP_0009179							
HP:0009180	biolink:PhenotypicFeature	Ulnar deviation of the 5th finger	Displacement of the 5th finger towards the ulnar side.	UMLS:C4024553	hp.json		http://purl.obolibrary.org/obo/HP_0009180							
HP:0009182	biolink:PhenotypicFeature	Triangular shaped middle phalanx of the 5th finger	Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024552	hp.json	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							
HP:0009183	biolink:PhenotypicFeature	Joint contracture of the 5th finger	Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.	UMLS:C1865702	hp.json	5th finger camptodactyly|Fifth finger camptodactyly	http://purl.obolibrary.org/obo/HP_0009183							
HP:0009184	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 5th finger	Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.	UMLS:C4024551	hp.json		http://purl.obolibrary.org/obo/HP_0009184							
HP:0009185	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 5th finger	Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	UMLS:C3554612	hp.json		http://purl.obolibrary.org/obo/HP_0009185							
HP:0009186	biolink:PhenotypicFeature	Contracture of the metacarpophalangeal joint of the 5th finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.	UMLS:C4024550	hp.json		http://purl.obolibrary.org/obo/HP_0009186							
HP:0009187	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 5th finger	An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024549	hp.json	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							
HP:0009188	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 5th finger	A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024548	hp.json		http://purl.obolibrary.org/obo/HP_0009188							
HP:0009189	biolink:PhenotypicFeature	Fragmentation of the metacarpal epiphyses	Fragmented appearance of the epiphyses of the metacarpals.	UMLS:C4024547	hp.json	Fragmentation of end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009189							
HP:0009190	biolink:PhenotypicFeature	Irregular epiphyses of the metacarpals	Irregular radiographic opacity of the epiphyses of the metacarpals.	UMLS:C4024546	hp.json	Irregular end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009190							
HP:0009191	biolink:PhenotypicFeature	Ivory epiphyses of the metacarpals	Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024545	hp.json	Increased bone density of end part of the long bone of hands	http://purl.obolibrary.org/obo/HP_0009191							
HP:0009192	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanx of the 5th finger	Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.	UMLS:C4024544	hp.json	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							
HP:0009193	biolink:PhenotypicFeature	Pseudoepiphyses of the metacarpals	A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.	UMLS:C1860253	hp.json	Accessory proximal metacarpal ossification centres|Accessory proximal metacarpal ossification centers|Metacarpal pseudoepiphyses	http://purl.obolibrary.org/obo/HP_0009193							
HP:0009194	biolink:PhenotypicFeature	Small epiphyses of the metacarpals	Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.	UMLS:C4024543	hp.json	Small end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009194							
HP:0009195	biolink:PhenotypicFeature	Epiphyseal stippling of the metacarpals	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.	UMLS:C4021514	hp.json	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							
HP:0009196	biolink:PhenotypicFeature	Absent metacarpal epiphyses	Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.	UMLS:C4021513	hp.json	Absent end part of the long bone of hand|Absent metacarpal ossification centre|Absent metacarpal ossification center	http://purl.obolibrary.org/obo/HP_0009196							
HP:0009197	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 5th finger	An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024542	hp.json	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							
HP:0009198	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 5th finger	Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.	UMLS:C4021512	hp.json	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							
HP:0009199	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 5th finger	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.	UMLS:C4024541	hp.json	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							
HP:0009200	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 5th finger	A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024540	hp.json		http://purl.obolibrary.org/obo/HP_0009200							
HP:0009201	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.	UMLS:C4024539	hp.json	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							
HP:0009202	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 5th finger	Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.	UMLS:C4024538	hp.json	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							
HP:0009203	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 5th finger	Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.	UMLS:C4024537	hp.json	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							
HP:0009204	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 5th finger	An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024536	hp.json	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							
HP:0009205	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 5th finger	A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024535	hp.json	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							
HP:0009206	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 5th finger	Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.	UMLS:C4024534	hp.json	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							
HP:0009207	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 5th finger	Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.	UMLS:C4024533	hp.json	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							
HP:0009208	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 5th finger	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.	UMLS:C4024532	hp.json	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							
HP:0009209	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 5th finger	Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024531	hp.json	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							
HP:0009210	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 5th finger	A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024530	hp.json		http://purl.obolibrary.org/obo/HP_0009210							
HP:0009211	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 5th finger	Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.	UMLS:C4024529	hp.json	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							
HP:0009212	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.	UMLS:C4024528	hp.json	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							
HP:0009213	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 5th finger	A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021511	hp.json	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							
HP:0009214	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 4th finger	Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.	UMLS:C4024527	hp.json	Absent end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009214							
HP:0009215	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 4th finger	An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024526	hp.json	Bracket shaped end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009215							
HP:0009216	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 4th finger	A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024525	hp.json	Cone-shaped end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009216							
HP:0009217	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 4th finger	Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.	UMLS:C4024524	hp.json	Enlarged end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009217							
HP:0009218	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 4th finger	Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.	UMLS:C4024523	hp.json	Fragmentation of end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009218							
HP:0009219	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 4th finger	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.	UMLS:C4024522	hp.json	Irregular end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009219							
HP:0009220	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 4th finger	Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024521	hp.json	Increased bone density of end part of the middle ring finger bone	http://purl.obolibrary.org/obo/HP_0009220							
HP:0009221	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 4th finger	A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024520	hp.json		http://purl.obolibrary.org/obo/HP_0009221							
HP:0009222	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 4th finger	Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.	UMLS:C4024519	hp.json	Small end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009222							
HP:0009223	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.	UMLS:C4024518	hp.json	Speckled calcifications in end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009223							
HP:0009224	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 4th finger	A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021510	hp.json	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							
HP:0009225	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 5th finger	Absence of the proximal phalanx of the little (5th) finger.	UMLS:C4024517	hp.json	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							
HP:0009226	biolink:PhenotypicFeature	Short proximal phalanx of the 5th finger	Hypoplastic/small proximal phalanx of the fifth finger.	UMLS:C4021509	hp.json	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							
HP:0009227	biolink:PhenotypicFeature	Broad proximal phalanx of the 5th finger	Increased width of the proximal phalanx of the 5th finger.	UMLS:C4021508	hp.json	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							
HP:0009228	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 5th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.	UMLS:C4024516	hp.json	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							
HP:0009229	biolink:PhenotypicFeature	Curved proximal phalanx of the 5th finger	Curved appearance of the proximal phalanx of the 5th finger.	UMLS:C4024515	hp.json	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							
HP:0009230	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 5th finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.	UMLS:C4024514	hp.json		http://purl.obolibrary.org/obo/HP_0009230							
HP:0009231	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 5th finger	Patchy increase in bone density of the proximal phalanx of the 5th finger.	UMLS:C4024513	hp.json	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							
HP:0009232	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 5th finger	Fusion of the proximal phalanx of the 5th finger with another bone.	UMLS:C4024512	hp.json	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							
HP:0009233	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the 5th finger	Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024511	hp.json	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							
HP:0009234	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal	Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.	UMLS:C4024510	hp.json	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							
HP:0009236	biolink:PhenotypicFeature	Rhomboid or triangular shaped 5th finger proximal phalanx	Rhomboid or triangular shaped 5th (little) finger proximal phalanx.	UMLS:C4024509	hp.json	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							
HP:0009237	biolink:PhenotypicFeature	Short 5th finger	Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.	UMLS:C1842878	hp.json	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							
HP:0009238	biolink:PhenotypicFeature	Aplasia of the 5th finger	Absent 5th (little) finger.	UMLS:C4024508	hp.json	Absent little finger|Absent pinkie finger|Absent pinky finger	http://purl.obolibrary.org/obo/HP_0009238							
HP:0009239	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 5th finger		UMLS:C4024507	hp.json	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	biolink:PhenotypicFeature	Broad distal phalanx of the 5th finger	Increased width of the distal phalanx of the 5th finger.	UMLS:C4024506	hp.json	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							
HP:0009241	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 5th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.	UMLS:C4024505	hp.json	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							
HP:0009242	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 5th finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.	UMLS:C4024504	hp.json		http://purl.obolibrary.org/obo/HP_0009242							
HP:0009243	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 5th finger	Patchy increase in bone density of the distal phalanx of the 5th finger.	UMLS:C4024503	hp.json	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							
HP:0009244	biolink:PhenotypicFeature	Distal/middle symphalangism of 5th finger	Fusion of the terminal/distal and middle phalanges of the 5th finger.	UMLS:C1868573|UMLS:C4020781	hp.json	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							
HP:0009245	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the 5th finger	Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024502	hp.json	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							
HP:0009246	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the 5th finger	Absence of the distal phalanx of the little (5th) finger.	UMLS:C4024501	hp.json	Absent outermost little finger bone|Absent outermost pinkie finger bone|Absent outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009246							
HP:0009247	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 4th finger		UMLS:C4024500	hp.json	Abnormality of the end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009247							
HP:0009248	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 4th finger		UMLS:C4024499	hp.json	Abnormality of the end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009248							
HP:0009249	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 4th finger		UMLS:C4024498	hp.json	Abnormality of the end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009249							
HP:0009250	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 4th finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.	UMLS:C4024497	hp.json	Absent end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009250							
HP:0009251	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 4th finger	An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024496	hp.json	Bracket shaped end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009251							
HP:0009252	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 4th finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024495	hp.json	Cone-shaped end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009252							
HP:0009253	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 4th finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.	UMLS:C4024494	hp.json	Enlarged end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009253							
HP:0009254	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 4th finger	Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.	UMLS:C4024493	hp.json	Fragmentation of end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009254							
HP:0009255	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 4th finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.	UMLS:C4024492	hp.json	Irregular end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009255							
HP:0009256	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 4th finger	Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024491	hp.json	Increased bone density of end part of the outermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009256							
HP:0009257	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 4th finger	A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024490	hp.json		http://purl.obolibrary.org/obo/HP_0009257							
HP:0009258	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 4th finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.	UMLS:C4024489	hp.json	Small end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009258							
HP:0009259	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.	UMLS:C4024488	hp.json	Speckled calcifications in the end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009259							
HP:0009260	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 4th finger	A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021507	hp.json	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							
HP:0009261	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 4th finger	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.	UMLS:C4024487	hp.json	Absent end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009261							
HP:0009262	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 4th finger	An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4021506	hp.json	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							
HP:0009263	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 4th finger	A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024486	hp.json	Cone-shaped end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009263							
HP:0009264	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 4th finger	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.	UMLS:C4024485	hp.json	Enlarged end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009264							
HP:0009265	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 4th finger	Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.	UMLS:C4024484	hp.json	Fragmentation of end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009265							
HP:0009266	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 4th finger	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.	UMLS:C4024483	hp.json	Irregular end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009266							
HP:0009267	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 4th finger	Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024482	hp.json	Increased bone density of end part of the innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009267							
HP:0009268	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 4th finger	A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024481	hp.json		http://purl.obolibrary.org/obo/HP_0009268							
HP:0009269	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 4th finger	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.	UMLS:C4024480	hp.json	Small end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009269							
HP:0009270	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.	UMLS:C4024479	hp.json	Speckled calcifications in end part of the innermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009270							
HP:0009271	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 4th finger	A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021505	hp.json	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							
HP:0009272	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 4th finger	A small/hypoplastic or absent/aplastic 4th (ring) finger.	UMLS:C4024478	hp.json	Absent/small ring finger bone|Absent/underdeveloped ring finger bone	http://purl.obolibrary.org/obo/HP_0009272							
HP:0009273	biolink:PhenotypicFeature	Deviation of the 4th finger	Displacement of the 4th finger from its normal position.	UMLS:C4024477	hp.json	Deviation of the ring finger	http://purl.obolibrary.org/obo/HP_0009273							
HP:0009274	biolink:PhenotypicFeature	Joint contracture of the 4th finger	Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.	UMLS:C4021504	hp.json	Joint contractures of the fourth finger	http://purl.obolibrary.org/obo/HP_0009274							
HP:0009275	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 4th finger	Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.	UMLS:C4024476	hp.json		http://purl.obolibrary.org/obo/HP_0009275							
HP:0009276	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 4th finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	UMLS:C4021503	hp.json	4th finger camptodactyly|Camptodactyly of the 4th finger|Camptodactyly of the ring finger	http://purl.obolibrary.org/obo/HP_0009276							
HP:0009277	biolink:PhenotypicFeature	Contracture of the metacarpophalangeal joint of the 4th finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.	UMLS:C4024475	hp.json		http://purl.obolibrary.org/obo/HP_0009277							
HP:0009278	biolink:PhenotypicFeature	Ulnar deviation of the 4th finger	Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).	UMLS:C4024474	hp.json	Ulnar deviation of the ring finger	http://purl.obolibrary.org/obo/HP_0009278							
HP:0009279	biolink:PhenotypicFeature	Radial deviation of the 4th finger	Displacement of the 4th finger towards the radial side (i.e., towards the thumb).	UMLS:C4024473	hp.json	Radial deviation of the ring finger	http://purl.obolibrary.org/obo/HP_0009279							
HP:0009280	biolink:PhenotypicFeature	Short 4th finger	Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.	UMLS:C4021502	hp.json	Short ring finger|Hypoplastic/small 4th finger	http://purl.obolibrary.org/obo/HP_0009280							
HP:0009281	biolink:PhenotypicFeature	Aplasia of the 4th finger	Absent 4th finger.	UMLS:C4024472	hp.json	Absent ring finger	http://purl.obolibrary.org/obo/HP_0009281							
HP:0009282	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 4th finger		UMLS:C4024471	hp.json	Abnormality of the outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009282							
HP:0009283	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 4th finger		UMLS:C4021501	hp.json	Abnormal middle bone of ring finger|Abnormality of the middle phalanx of the ring finger	http://purl.obolibrary.org/obo/HP_0009283							
HP:0009284	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 4th finger		UMLS:C4021500	hp.json	Abnormal innermost bone of ring finger|Abnormality of the proximal phalanx of the ring finger	http://purl.obolibrary.org/obo/HP_0009284							
HP:0009285	biolink:PhenotypicFeature	Curved phalanges of the 4th finger	Curved appearance of the phalanges of the 4th (ring) finger.	UMLS:C4024470	hp.json	Curved ring finger bone	http://purl.obolibrary.org/obo/HP_0009285							
HP:0009286	biolink:PhenotypicFeature	Curved distal phalanx of the 4th finger	Curved appearance of the distal phalanx of the 4th (ring) finger.	UMLS:C4024469	hp.json	Curved outermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009286							
HP:0009287	biolink:PhenotypicFeature	Curved middle phalanx of the 4th finger	Curved appearance of the middle phalanx of the 4th (ring) finger.	UMLS:C4024468	hp.json	Curved middle ring finger bone	http://purl.obolibrary.org/obo/HP_0009287							
HP:0009288	biolink:PhenotypicFeature	Curved proximal phalanx of the 4th finger		UMLS:C4024467	hp.json	Curved innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009288							
HP:0009289	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 4th finger		UMLS:C4024466	hp.json	Absent/small outermost ring finger bone|Absent/underdeveloped outermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009289							
HP:0009290	biolink:PhenotypicFeature	Short distal phalanx of the 4th finger	Hypoplastic/small distal phalanx of the fourth finger.	UMLS:C4021499	hp.json	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							
HP:0009291	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the 4th finger	Absence of the distal phalanx of the ring (4th) finger.	UMLS:C4024465	hp.json	Absent outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009291							
HP:0009292	biolink:PhenotypicFeature	Broad distal phalanx of the 4th finger	Increased width of the distal phalanx of the 4th finger.	UMLS:C4024464	hp.json	Broad outermost bone of ring finger|Wide outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009292							
HP:0009293	biolink:PhenotypicFeature	Broad middle phalanx of the 4th finger	Increased width of the middle phalanx of the 4th finger.	UMLS:C4024463	hp.json	Broad middle bone of the 4th finger	http://purl.obolibrary.org/obo/HP_0009293							
HP:0009294	biolink:PhenotypicFeature	Absent middle phalanx of 4th finger	Absence of the middle phalanx of the ring (4th) finger.	UMLS:C4021498	hp.json	Absent middle bone of 4th finger|Aplasia of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009294							
HP:0009295	biolink:PhenotypicFeature	Short middle phalanx of the 4th finger	Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.	UMLS:C4021497	hp.json	Short middle bone of 4th finger|Brachymesophalangy IV (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							
HP:0009296	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 4th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.	UMLS:C4024462	hp.json	Bullet-shaped middle bone of the 4th finger	http://purl.obolibrary.org/obo/HP_0009296							
HP:0009297	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 4th finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.	UMLS:C4024461	hp.json		http://purl.obolibrary.org/obo/HP_0009297							
HP:0009298	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 4th finger	Absence of the proximal phalanx of the ring (4th) finger.	UMLS:C4024460	hp.json	Absent innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009298							
HP:0009299	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 4th finger		UMLS:C4024459	hp.json	Absent/small middle ring finger bone|Absent/underdeveloped middle ring finger bone	http://purl.obolibrary.org/obo/HP_0009299							
HP:0009300	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanx of the 4th finger		UMLS:C4020658	hp.json	Absent/small innermost ring finger bone|Absent/underdeveloped innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009300							
HP:0009301	biolink:PhenotypicFeature	Short proximal phalanx of the 4th finger	Hypoplastic/small proximal phalanx of the fourth finger.	UMLS:C4021496	hp.json	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							
HP:0009302	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 4th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.	UMLS:C4024458	hp.json	Bullet-shaped outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009302							
HP:0009303	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 4th finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.	UMLS:C4024457	hp.json		http://purl.obolibrary.org/obo/HP_0009303							
HP:0009304	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 4th finger	Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.	UMLS:C4024456	hp.json	Uneven increase in bone density in the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009304							
HP:0009305	biolink:PhenotypicFeature	Distal/middle symphalangism of 4th finger	Fusion of the terminal/distal and middle phalanges of the 4th finger.	UMLS:C4021495	hp.json	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							
HP:0009306	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the 4th finger	Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024455	hp.json	Triangular shaped outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009306							
HP:0009307	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 4th finger	Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.	UMLS:C4024454	hp.json	Uneven increase in bone density in the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009307							
HP:0009308	biolink:PhenotypicFeature	Symphalangism of middle phalanx of 4th finger	Fusion of the middle phalanx of the 4th finger with another bone.	UMLS:C4024453	hp.json	Fused middle bone of ring finger	http://purl.obolibrary.org/obo/HP_0009308							
HP:0009309	biolink:PhenotypicFeature	Triangular shaped middle phalanx of the 4th finger	Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024452	hp.json	Triangular shaped middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009309							
HP:0009310	biolink:PhenotypicFeature	Broad proximal phalanx of the 4th finger	Increased width of the proximal phalanx of the 4th finger.	UMLS:C4020660	hp.json	Broad innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009310							
HP:0009311	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 4th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.	UMLS:C4024451	hp.json	Bullet-shaped innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009311							
HP:0009312	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 4th finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.	UMLS:C4024450	hp.json		http://purl.obolibrary.org/obo/HP_0009312							
HP:0009313	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 4th finger	Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.	UMLS:C4024449	hp.json	Uneven increase in bone density in the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009313							
HP:0009314	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 4th finger	Fusion of the proximal phalanx of the 4th finger with another bone.	UMLS:C4024448	hp.json	Fused innermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009314							
HP:0009315	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the 4th finger	Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024447	hp.json	Triangular shaped innermost bone of the 4th finger|Triangular shaped innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009315							
HP:0009316	biolink:PhenotypicFeature	Abnormal 3rd finger phalanx morphology	Abnormality of the phalanges of the 3rd (middle) finger.	UMLS:C4021494	hp.json	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							
HP:0009317	biolink:PhenotypicFeature	Deviation of the 3rd finger	Displacement of the 3rd finger from its normal position.	UMLS:C4021493	hp.json	Deviated middle finger	http://purl.obolibrary.org/obo/HP_0009317							
HP:0009318	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 3rd finger	A small/hypoplastic or absent/aplastic 3rd (middle) finger.	UMLS:C4024446	hp.json	Absent/small middle finger|Absent/underdeveloped middle finger	http://purl.obolibrary.org/obo/HP_0009318							
HP:0009319	biolink:PhenotypicFeature	Joint contracture of the 3rd finger	Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.	UMLS:C4021492	hp.json	Camptodactyly of middle finger	http://purl.obolibrary.org/obo/HP_0009319							
HP:0009320	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 3rd finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.	UMLS:C4024445	hp.json	Abnormality of end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009320							
HP:0009321	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 3rd finger	Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.	UMLS:C4024444	hp.json	Absent end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009321							
HP:0009322	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 3rd finger	An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024443	hp.json	Bracket shaped end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009322							
HP:0009323	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 3rd finger	A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024442	hp.json	Cone-shaped end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009323							
HP:0009324	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 3rd finger	Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.	UMLS:C4024441	hp.json	Enlarged end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009324							
HP:0009325	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 3rd finger	Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.	UMLS:C4024440	hp.json	Fragmentation of end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009325							
HP:0009326	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 3rd finger	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.	UMLS:C4024439	hp.json	Irregular end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009326							
HP:0009327	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 3rd finger	Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024438	hp.json	Increased bone density of end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009327							
HP:0009328	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 3rd finger	A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4021491	hp.json	Pseudoepiphyses of middle phalanx of middle-finger	http://purl.obolibrary.org/obo/HP_0009328							
HP:0009329	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 3rd finger	Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.	UMLS:C4024437	hp.json	Small end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009329							
HP:0009330	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.	UMLS:C4024436	hp.json	Speckled calcifications in end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009330							
HP:0009331	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 3rd finger	A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021490	hp.json	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							
HP:0009332	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 3rd finger		UMLS:C4024435	hp.json	Abnormality of the end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009332							
HP:0009333	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 3rd finger		UMLS:C4024434	hp.json	Abnormality of the end part of the innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009333							
HP:0009334	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 3rd finger		UMLS:C4024433	hp.json	Abnormality of the middle part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009334							
HP:0009335	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 3rd finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.	UMLS:C4024432	hp.json	Absent end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009335							
HP:0009336	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 3rd finger	An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024431	hp.json	Bracket shaped end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009336							
HP:0009337	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 3rd finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024430	hp.json	Cone-shaped end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009337							
HP:0009338	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 3rd finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.	UMLS:C4024429	hp.json	Enlarged end part of the outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009338							
HP:0009339	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 3rd finger	Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.	UMLS:C4024428	hp.json	Fragmentation of end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009339							
HP:0009340	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 3rd finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.	UMLS:C4024427	hp.json	Irregular end part of the outermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009340							
HP:0009341	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 3rd finger	Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024426	hp.json	Increased bone density of end part of the outermost middle finger bone	http://purl.obolibrary.org/obo/HP_0009341							
HP:0009342	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 3rd finger	A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024425	hp.json	Pseudoepiphysis of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009342							
HP:0009343	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 3rd finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.	UMLS:C4024424	hp.json	Small end part of the outermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009343							
HP:0009344	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.	UMLS:C4024423	hp.json	Speckled calcifications in end part of the outermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009344							
HP:0009345	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 3rd finger	A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021489	hp.json	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							
HP:0009346	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 3rd finger	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.	UMLS:C4024422	hp.json	Absent end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009346							
HP:0009347	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 3rd finger	An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024421	hp.json	Bracket shaped end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009347							
HP:0009348	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 3rd finger	A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024420	hp.json	Cone-shaped end part of the innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009348							
HP:0009349	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 3rd finger	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.	UMLS:C4021488	hp.json	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							
HP:0009350	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger	Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.	UMLS:C4024419	hp.json	Fragmentation of end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009350							
HP:0009351	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 3rd finger	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.	UMLS:C4024418	hp.json	Irregular end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009351							
HP:0009352	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 3rd finger	Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024417	hp.json	Increased bone density of end part of the innermost middle finger bone	http://purl.obolibrary.org/obo/HP_0009352							
HP:0009353	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 3rd finger	A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024416	hp.json		http://purl.obolibrary.org/obo/HP_0009353							
HP:0009354	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 3rd finger	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.	UMLS:C4024415	hp.json	Small end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009354							
HP:0009355	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.	UMLS:C4024414	hp.json	Speckled calcifications in end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009355							
HP:0009356	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 3rd finger	A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4021487	hp.json	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							
HP:0009357	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 3rd finger		UMLS:C4021486	hp.json	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	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 3rd finger		UMLS:C4021485	hp.json	Abnormal innermost bone of middle finger|Abnormality of proximal middle-finger phalanx	http://purl.obolibrary.org/obo/HP_0009358							
HP:0009370	biolink:PhenotypicFeature	Type A brachydactyly		UMLS:C4024413	hp.json		http://purl.obolibrary.org/obo/HP_0009370							
HP:0009371	biolink:PhenotypicFeature	Type A1 brachydactyly		MSH:C537088|SNOMEDCT_US:715720006|UMLS:C1862151	hp.json		http://purl.obolibrary.org/obo/HP_0009371							
HP:0009372	biolink:PhenotypicFeature	Type A2 brachydactyly		MSH:C537089|UMLS:C1832702	hp.json	Short index fingers and second toes	http://purl.obolibrary.org/obo/HP_0009372							
HP:0009373	biolink:PhenotypicFeature	Type C brachydactyly		MSH:C537093|UMLS:C1862103	hp.json		http://purl.obolibrary.org/obo/HP_0009373							
HP:0009374	biolink:PhenotypicFeature	Broad phalanges of the 5th finger	Increased width of the phalanges of the 5th finger.	UMLS:C4024412	hp.json	Broad little finger bones|Broad pinkie finger bones|Broad pinky finger bones	http://purl.obolibrary.org/obo/HP_0009374							
HP:0009375	biolink:PhenotypicFeature	Bullet-shaped phalanges of the 5th finger	A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024411	hp.json	Bullet-shaped little finger bones|Bullet-shaped pinkie finger bones|Bullet-shaped pinky finger bones	http://purl.obolibrary.org/obo/HP_0009375							
HP:0009376	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 5th finger	Aplasia/Hypoplasia of the phalanges of the 5th finger.	UMLS:C4024410	hp.json	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							
HP:0009377	biolink:PhenotypicFeature	Patchy sclerosis of 5th finger phalanx	Uneven increase in bone density of one or more of the phalanges of the 5th finger.	UMLS:C4021484	hp.json	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							
HP:0009378	biolink:PhenotypicFeature	Triangular shaped phalanges of the 5th finger	Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024409	hp.json	Triangular shaped little finger bones|Triangular shaped pinkie finger bones|Triangular shaped pinky finger bones	http://purl.obolibrary.org/obo/HP_0009378							
HP:0009379	biolink:PhenotypicFeature	Rhomboid or triangular shaped 5th finger distal phalanx	Rhomboid or triangular shaped 5th (little) finger distal phalanx.	UMLS:C4024408	hp.json	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							
HP:0009380	biolink:PhenotypicFeature	Aplasia of the fingers	Aplasia of one or more fingers.	SNOMEDCT_US:71358006|UMLS:C0728895	hp.json	Absent fingers	http://purl.obolibrary.org/obo/HP_0009380							
HP:0009381	biolink:PhenotypicFeature	Short finger	Abnormally short finger associated with developmental hypoplasia.	SNOMEDCT_US:249765007|UMLS:C0239594|UMLS:C1844548	hp.json	Short finger|Stubby finger|Stubby fingers|Hypoplastic digits|Hypoplastic fingers|Hypoplastic/small fingers	http://purl.obolibrary.org/obo/HP_0009381							hposlim_core
HP:0009382	biolink:PhenotypicFeature	Absent epiphyses of the 5th finger	Absence of one or more epiphyses of the 5th finger.	UMLS:C4024407	hp.json	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							
HP:0009383	biolink:PhenotypicFeature	Bracket epiphyses of the 5th finger	An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024406	hp.json	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							
HP:0009384	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 5th finger	A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	UMLS:C4024405	hp.json	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							
HP:0009385	biolink:PhenotypicFeature	Enlarged epiphyses of the 5th finger	Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.	UMLS:C4024404	hp.json	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							
HP:0009386	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 5th finger	Fragmented appearance of the epiphyses of the 5th finger.	UMLS:C4024403	hp.json	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							
HP:0009387	biolink:PhenotypicFeature	Irregular epiphyses of the 5th finger	Irregular radiographic opacity of the epiphyses of the 5th finger.	UMLS:C4024402	hp.json	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							
HP:0009388	biolink:PhenotypicFeature	Ivory epiphyses of the 5th finger	Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024401	hp.json	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							
HP:0009389	biolink:PhenotypicFeature	Pseudoepiphyses of the 5th finger	A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024400	hp.json		http://purl.obolibrary.org/obo/HP_0009389							
HP:0009390	biolink:PhenotypicFeature	Small epiphyses of the 5th finger	Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.	UMLS:C4024399	hp.json	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							
HP:0009391	biolink:PhenotypicFeature	Stippling of the epiphyses of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.	UMLS:C4024398	hp.json	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							
HP:0009392	biolink:PhenotypicFeature	Triangular epiphyses of the 5th finger	A triangular appearance of the epiphyses of the 5th finger of the hand.	UMLS:C4021483	hp.json	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							
HP:0009393	biolink:PhenotypicFeature	Absent epiphyses of the 4th finger	Absence of one or more epiphyses of the 4th finger.	UMLS:C4024397	hp.json	Absent end part of the ring finger bone	http://purl.obolibrary.org/obo/HP_0009393							
HP:0009394	biolink:PhenotypicFeature	Bracket epiphyses of the 4th finger	An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024396	hp.json	Bracket shaped end part of ring finger bones	http://purl.obolibrary.org/obo/HP_0009394							
HP:0009395	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 4th finger	A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	UMLS:C4024395	hp.json	Cone-shaped end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009395							
HP:0009396	biolink:PhenotypicFeature	Enlarged epiphyses of the 4th finger	Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.	UMLS:C4024394	hp.json	Enlarged end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009396							
HP:0009397	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 4th finger	Fragmented appearance of the epiphyses of the 4th finger.	UMLS:C4024393	hp.json	Fragmentation of the end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009397							
HP:0009398	biolink:PhenotypicFeature	Irregular epiphyses of the 4th finger	Irregular radiographic opacity of the epiphyses of the 4th finger.	UMLS:C4024392	hp.json	Irregular end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009398							
HP:0009399	biolink:PhenotypicFeature	Ivory epiphyses of the 4th finger	Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024391	hp.json	Increased bone density of end part of the ring finger bone	http://purl.obolibrary.org/obo/HP_0009399							
HP:0009400	biolink:PhenotypicFeature	Pseudoepiphyses of the 4th finger	A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024390	hp.json		http://purl.obolibrary.org/obo/HP_0009400							
HP:0009401	biolink:PhenotypicFeature	Small epiphyses of the 4th finger	Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.	UMLS:C4024389	hp.json	Small end part of ring finger bone	http://purl.obolibrary.org/obo/HP_0009401							
HP:0009402	biolink:PhenotypicFeature	Stippling of the epiphyses of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.	UMLS:C4024388	hp.json	Speckled calcifications in end part of ring finger bone	http://purl.obolibrary.org/obo/HP_0009402							
HP:0009403	biolink:PhenotypicFeature	Triangular epiphyses of the 4th finger	A triangular appearance of the epiphyses of the 4th finger of the hand.	UMLS:C4021482	hp.json	Triangular end part of ring finger bone|Delta-shaped epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0009403							
HP:0009404	biolink:PhenotypicFeature	Broad phalanges of the 4th finger	Increased width of the phalanges of the 4th finger.	UMLS:C4024387	hp.json	Broad bones of ring finger	http://purl.obolibrary.org/obo/HP_0009404							
HP:0009405	biolink:PhenotypicFeature	Bullet-shaped phalanges of the 4th finger	A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024386	hp.json	Bullet-shaped of bone of ring finger	http://purl.obolibrary.org/obo/HP_0009405							
HP:0009406	biolink:PhenotypicFeature	Patchy sclerosis of 4th finger phalanx	Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.	UMLS:C4021481	hp.json	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							
HP:0009407	biolink:PhenotypicFeature	Triangular shaped phalanges of the 4th finger	Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024385	hp.json	Triangular shaped bone of ring finger	http://purl.obolibrary.org/obo/HP_0009407							
HP:0009408	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 4th finger		UMLS:C4024384	hp.json	Absent/small ring finger bones|Absent/underdeveloped ring finger bones	http://purl.obolibrary.org/obo/HP_0009408							
HP:0009410	biolink:PhenotypicFeature	Absent epiphyses of the 3rd finger	Absence of the epiphyses of the 3rd finger.	UMLS:C4024383	hp.json	Absent end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009410							
HP:0009411	biolink:PhenotypicFeature	Bracket epiphyses of the 3rd finger	An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024382	hp.json	Bracket shaped end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009411							
HP:0009412	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 3rd finger	A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	UMLS:C4024381	hp.json	Cone-shaped end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009412							
HP:0009413	biolink:PhenotypicFeature	Enlarged epiphyses of the 3rd finger	Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.	UMLS:C4024380	hp.json	Enlarged end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009413							
HP:0009414	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 3rd finger	Fragmented appearance of the epiphyses of the 3rd finger.	UMLS:C4024379	hp.json	Fragmentation of end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009414							
HP:0009415	biolink:PhenotypicFeature	Irregular epiphyses of the 3rd finger	Irregular radiographic opacity of the epiphyses of the 3rd finger.	UMLS:C4024378	hp.json	Irregular end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009415							
HP:0009416	biolink:PhenotypicFeature	Ivory epiphyses of the 3rd finger	Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024377	hp.json	Increased bone density of end part of the middle finger bone	http://purl.obolibrary.org/obo/HP_0009416							
HP:0009417	biolink:PhenotypicFeature	Pseudoepiphyses of the 3rd finger	A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4021480	hp.json	Pseudoepiphyses of middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009417							
HP:0009418	biolink:PhenotypicFeature	Small epiphyses of the 3rd finger	Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.	UMLS:C4024376	hp.json	Small end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009418							
HP:0009419	biolink:PhenotypicFeature	Stippling of the epiphyses of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.	UMLS:C4024375	hp.json	Speckled calcifications in end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009419							
HP:0009420	biolink:PhenotypicFeature	Triangular epiphyses of the 3rd finger	A triangular appearance of the epiphyses of the 3rd finger of the hand.	UMLS:C4021479	hp.json	Triangular end part of middle finger bone|Delta-shaped epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009420							
HP:0009421	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger		UMLS:C4024374	hp.json	Absent/small outermost middle finger bone|Absent/underdeveloped outermost middle finger bone	http://purl.obolibrary.org/obo/HP_0009421							
HP:0009422	biolink:PhenotypicFeature	Broad distal phalanx of the 3rd finger	Increased width of the distal phalanx of the 3rd finger.	UMLS:C4024373	hp.json	Broad outermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009422							
HP:0009423	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 3rd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.	UMLS:C4024372	hp.json	Bullet-shaped outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009423							
HP:0009424	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 3rd finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.	UMLS:C4021478	hp.json	Lytic defect of terminal phalanx of middle finger	http://purl.obolibrary.org/obo/HP_0009424							
HP:0009425	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 3rd finger	Uneven (irregular) increase in bone density of the distal phalanx of the third finger.	UMLS:C4024371	hp.json	Uneven increase in bone density in the outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009425							
HP:0009426	biolink:PhenotypicFeature	Distal/middle symphalangism of 3rd finger	Fusion of the terminal/distal and middle phalanges of the 3rd finger.	UMLS:C4021477	hp.json	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							
HP:0009427	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the 3rd finger	Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024370	hp.json	Triangular shaped outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009427							
HP:0009428	biolink:PhenotypicFeature	Curved distal phalanx of the 3rd finger	Curved appearance of the distal phalanx of the 3rd finger.	UMLS:C4024369	hp.json	Curved outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009428							
HP:0009429	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the 3rd finger	Absence of the distal phalanx of the middle (3rd) finger.	UMLS:C4024368	hp.json	Absent of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009429							
HP:0009430	biolink:PhenotypicFeature	Broad middle phalanx of the 3rd finger	Increased width of the middle phalanx of the 3rd finger.	UMLS:C4021476	hp.json	Broad middle bone of middle finger|Wide/broad middle phalanx of middle-finger	http://purl.obolibrary.org/obo/HP_0009430							
HP:0009431	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 3rd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.	UMLS:C4024367	hp.json	Bullet-shaped middle bone of middle finger	http://purl.obolibrary.org/obo/HP_0009431							
HP:0009432	biolink:PhenotypicFeature	Curved middle phalanx of the 3rd finger	Curved appearance of the middle phalanx of the 3rd (middle) finger.	UMLS:C4024366	hp.json	Curved middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009432							
HP:0009433	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 3rd finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.	UMLS:C4024365	hp.json		http://purl.obolibrary.org/obo/HP_0009433							
HP:0009434	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 3rd finger	Uneven (irregular) increase in bone density of the middle phalanx of the third finger.	UMLS:C4024364	hp.json	Uneven increase in bone density in the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009434							
HP:0009435	biolink:PhenotypicFeature	Symphalangism of middle phalanx of 3rd finger	Fusion of the middle phalanx of the 3rd finger with another bone.	UMLS:C4024363	hp.json	Fused middle bone of middle finger	http://purl.obolibrary.org/obo/HP_0009435							
HP:0009436	biolink:PhenotypicFeature	Triangular shaped middle phalanx of the 3rd finger	Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024362	hp.json	Triangular shaped middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009436							
HP:0009437	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger		UMLS:C4024361	hp.json	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	biolink:PhenotypicFeature	Absent middle phalanx of 3rd finger	Absence of the middle phalanx of the middle (3rd) finger.	UMLS:C4021475	hp.json	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							
HP:0009439	biolink:PhenotypicFeature	Short middle phalanx of the 3rd finger	Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.	UMLS:C4021474	hp.json	Short middle bone of middle finger|Brachymesophalangy III (finger)|Hypoplastic/small middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009439							
HP:0009440	biolink:PhenotypicFeature	Broad phalanges of the 3rd finger	Increased width of the phalanges of the 3rd finger.	UMLS:C4021473	hp.json	Wide bones of middle finger|Wide/broad middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009440							
HP:0009441	biolink:PhenotypicFeature	Bullet-shaped phalanges of the 3rd finger	A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024360	hp.json	Bullet-shaped bones of middle finger	http://purl.obolibrary.org/obo/HP_0009441							
HP:0009442	biolink:PhenotypicFeature	Curved phalanges of the 3rd finger	Curved appearance of the phalanges of the 3rd finger.	UMLS:C4024359	hp.json	Curved bones of middle finger	http://purl.obolibrary.org/obo/HP_0009442							
HP:0009443	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 3rd finger	Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.	UMLS:C4021472	hp.json	Lytic defects of middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009443							
HP:0009444	biolink:PhenotypicFeature	Patchy sclerosis of 3rd finger phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.	UMLS:C4021471	hp.json	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							
HP:0009445	biolink:PhenotypicFeature	Symphalangism of the 3rd finger	Fusion of two or more bones of the 3rd finger.	UMLS:C4024358	hp.json	Fused middle finger	http://purl.obolibrary.org/obo/HP_0009445							
HP:0009446	biolink:PhenotypicFeature	Triangular shaped phalanges of the 3rd finger	Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024357	hp.json	Triangular shaped bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009446							
HP:0009447	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 3rd finger		UMLS:C4024356	hp.json	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	biolink:PhenotypicFeature	obsolete Aplasia of the phalanges of the 3rd finger			hp.json		http://purl.obolibrary.org/obo/HP_0009448							
HP:0009449	biolink:PhenotypicFeature	obsolete Hypoplastic/small phalanges of the 3rd finger			hp.json		http://purl.obolibrary.org/obo/HP_0009449							
HP:0009450	biolink:PhenotypicFeature	Broad proximal phalanx of the 3rd finger	Increased width of the proximal phalanx of the 3rd finger.	UMLS:C4024355	hp.json	Broad innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009450							
HP:0009451	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 3rd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.	UMLS:C4024354	hp.json	Bullet-shaped innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009451							
HP:0009452	biolink:PhenotypicFeature	Curved proximal phalanx of the 3rd finger	Curved appearance of the proximal phalanx of the 3rd finger.	UMLS:C4024353	hp.json	Curved innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009452							
HP:0009453	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 3rd finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.	UMLS:C4024352	hp.json		http://purl.obolibrary.org/obo/HP_0009453							
HP:0009454	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 3rd finger	Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.	UMLS:C4024351	hp.json	Uneven increase in bone density in the innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009454							
HP:0009455	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 3rd finger	Fusion of the proximal phalanx of the 3rd finger with another bone.	UMLS:C4024350	hp.json	Fused innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009455							
HP:0009456	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the 3rd finger	Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024349	hp.json	Triangular shaped innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009456							
HP:0009457	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger		UMLS:C4024348	hp.json	Absent/small innermost bone of middle finger|Absent/underdeveloped innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009457							
HP:0009458	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 3rd finger	Absence of the proximal phalanx of the 3rd finger.	UMLS:C4024347	hp.json	Absent innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009458							
HP:0009459	biolink:PhenotypicFeature	Short proximal phalanx of the 3rd finger	Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.	UMLS:C4021470	hp.json	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							
HP:0009460	biolink:PhenotypicFeature	Aplasia of the 3rd finger	Absent 3rd finger.	UMLS:C4024346	hp.json	Absent middle finger	http://purl.obolibrary.org/obo/HP_0009460							
HP:0009461	biolink:PhenotypicFeature	Short 3rd finger	Hypoplastic/small 3rd (middle) finger.	UMLS:C4021469	hp.json	Short 3rd finger|Short middle finger|Hypoplastic/small 3rd finger	http://purl.obolibrary.org/obo/HP_0009461							
HP:0009462	biolink:PhenotypicFeature	Radial deviation of the 3rd finger	Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).	UMLS:C4024345	hp.json	Inward turned middle finger	http://purl.obolibrary.org/obo/HP_0009462							
HP:0009463	biolink:PhenotypicFeature	Ulnar deviation of the 3rd finger	Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).	UMLS:C3554614	hp.json	Ulnar deviation of middle fingers	http://purl.obolibrary.org/obo/HP_0009463							
HP:0009464	biolink:PhenotypicFeature	Ulnar deviation of the 2nd finger	Displacement of the 2nd (index) finger towards the ulnar side.	UMLS:C1844891	hp.json	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							
HP:0009465	biolink:PhenotypicFeature	Ulnar deviation of finger	Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.	SNOMEDCT_US:276662009|SNOMEDCT_US:367510009|UMLS:C0231679	hp.json	Finger bends toward pinky|Ulnar Drift	http://purl.obolibrary.org/obo/HP_0009465							hposlim_core
HP:0009466	biolink:PhenotypicFeature	Radial deviation of finger	Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.	UMLS:C1836189	hp.json	Radially deviated fingers|Radially deviated phalanges	http://purl.obolibrary.org/obo/HP_0009466							hposlim_core
HP:0009467	biolink:PhenotypicFeature	Radial deviation of the 2nd finger	Displacement of the 2nd finger towards the radial side.	UMLS:C1844709	hp.json	Radially deviated index finger	http://purl.obolibrary.org/obo/HP_0009467							
HP:0009468	biolink:PhenotypicFeature	Deviation of the 2nd finger	Displacement of the 2nd finger from its normal position.	UMLS:C4021468	hp.json	Displaced index finger|Deviated index finger	http://purl.obolibrary.org/obo/HP_0009468							
HP:0009469	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 3rd finger	Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	UMLS:C4024344	hp.json	Contracture of the outermost hinge joint of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009469							
HP:0009470	biolink:PhenotypicFeature	Contracture of the metacarpophalangeal joint of the 3rd finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	UMLS:C4024343	hp.json		http://purl.obolibrary.org/obo/HP_0009470							
HP:0009471	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 3rd finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	UMLS:C4021467	hp.json	Camptodactyly of the 3rd finger|Camptodactyly of the third finger	http://purl.obolibrary.org/obo/HP_0009471							
HP:0009473	biolink:PhenotypicFeature	Joint contracture of the hand	Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.	MEDDRA:10010821|SNOMEDCT_US:86414002|UMLS:C0158113	hp.json	Contractures involving the hands|Contractures of the hands	http://purl.obolibrary.org/obo/HP_0009473							hposlim_core
HP:0009477	biolink:PhenotypicFeature	Proximal/middle symphalangism of 4th finger	Fusion of the proximal and middle phalanges of the 4th finger.	UMLS:C4024342	hp.json	Fused innermost and middle bone of fourth finger	http://purl.obolibrary.org/obo/HP_0009477							
HP:0009478	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.	UMLS:C4024341	hp.json	Fused innermost bone of ring finger with 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0009478							
HP:0009482	biolink:PhenotypicFeature	Proximal/middle symphalangism of 3rd finger	Fusion of the proximal and middle phalanges of the 3rd finger.	UMLS:C4024340	hp.json	Fused of innermost and middle bones of middle finger	http://purl.obolibrary.org/obo/HP_0009482							
HP:0009483	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal	Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.	UMLS:C4024339	hp.json	Fused innermost bones of middle finger with middle long bone of hand	http://purl.obolibrary.org/obo/HP_0009483							
HP:0009484	biolink:PhenotypicFeature	Deviation of the hand or of fingers of the hand	Displacement of the hand or of fingers of the hand from their normal position.	UMLS:C4024338	hp.json	Displaced hand or fingers of the hand	http://purl.obolibrary.org/obo/HP_0009484							
HP:0009485	biolink:PhenotypicFeature	Radial deviation of the hand or of fingers of the hand		UMLS:C4024337	hp.json		http://purl.obolibrary.org/obo/HP_0009485							
HP:0009486	biolink:PhenotypicFeature	Radial deviation of the hand	An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).	SNOMEDCT_US:299035006|UMLS:C0575803	hp.json	Radial deviation of hands	http://purl.obolibrary.org/obo/HP_0009486							hposlim_core
HP:0009487	biolink:PhenotypicFeature	Ulnar deviation of the hand	Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).	SNOMEDCT_US:249757009|UMLS:C0241521	hp.json	Ulnar deviation of hands|Ulnar deviation of the hands	http://purl.obolibrary.org/obo/HP_0009487							hposlim_core
HP:0009488	biolink:PhenotypicFeature	Absent epiphyses of the 2nd finger	Absence of the epiphyses of the 2nd finger.	UMLS:C4024336	hp.json	Absent end part of index finger	http://purl.obolibrary.org/obo/HP_0009488							
HP:0009489	biolink:PhenotypicFeature	Bracket epiphyses of the 2nd finger	An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4021466	hp.json	Bracket shaped end part of index finger|Bracket-epiphyses of index finger	http://purl.obolibrary.org/obo/HP_0009489							
HP:0009490	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 2nd finger	A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	UMLS:C4024335	hp.json	Cone-shaped end part of the index finger	http://purl.obolibrary.org/obo/HP_0009490							
HP:0009491	biolink:PhenotypicFeature	Enlarged epiphyses of the 2nd finger	Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.	UMLS:C4024334	hp.json	Enlarged end part of the index finger	http://purl.obolibrary.org/obo/HP_0009491							
HP:0009492	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 2nd finger	Fragmented appearance of the epiphyses of the 2nd finger.	UMLS:C4024333	hp.json	Fragmentation of end part of the index finger	http://purl.obolibrary.org/obo/HP_0009492							
HP:0009493	biolink:PhenotypicFeature	Irregular epiphyses of the 2nd finger	Irregular radiographic opacity of the epiphyses of the 2nd finger.	UMLS:C4024332	hp.json	Irregular end part of the index finger	http://purl.obolibrary.org/obo/HP_0009493							
HP:0009494	biolink:PhenotypicFeature	Ivory epiphyses of the 2nd finger	Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024331	hp.json	Increased bone density of end part of the index finger bone	http://purl.obolibrary.org/obo/HP_0009494							
HP:0009495	biolink:PhenotypicFeature	Pseudoepiphyses of the 2nd finger	A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4021465	hp.json	Accessory index finger phalanges	http://purl.obolibrary.org/obo/HP_0009495							
HP:0009496	biolink:PhenotypicFeature	Small epiphyses of the 2nd finger	Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.	UMLS:C4024330	hp.json	Small end part of the index finger	http://purl.obolibrary.org/obo/HP_0009496							
HP:0009497	biolink:PhenotypicFeature	Stippling of the epiphyses of the 2nd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.	UMLS:C4024329	hp.json	Speckled calcifications in end part of the index finger	http://purl.obolibrary.org/obo/HP_0009497							
HP:0009498	biolink:PhenotypicFeature	Triangular epiphyses of the 2nd finger	A triangular appearance of the epiphyses of the 2nd finger of the hand.	UMLS:C4024328	hp.json	Triangular end part of the index finger	http://purl.obolibrary.org/obo/HP_0009498							
HP:0009499	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 2nd finger		UMLS:C4021464	hp.json	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	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 2nd finger		UMLS:C4021463	hp.json	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	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4021462	hp.json	Epiphyseal abnormality of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009501							
HP:0009502	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 2nd finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.	UMLS:C4021461	hp.json	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							
HP:0009503	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 2nd finger	An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024327	hp.json	Bracket shaped end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009503							
HP:0009504	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 2nd finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4024326	hp.json	Cone-shaped end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009504							
HP:0009505	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 2nd finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.	UMLS:C4024325	hp.json	Enlarged end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009505							
HP:0009506	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 2nd finger	Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.	UMLS:C4024324	hp.json	Fragmentation of end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009506							
HP:0009507	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 2nd finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.	UMLS:C4024323	hp.json	Irregular end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009507							
HP:0009508	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 2nd finger	Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4021460	hp.json	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							
HP:0009509	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 2nd finger	A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024322	hp.json		http://purl.obolibrary.org/obo/HP_0009509							
HP:0009510	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 2nd finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.	UMLS:C4024321	hp.json	Small end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009510							
HP:0009511	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 2nd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.	UMLS:C4024320	hp.json	Speckled calcifications in end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009511							
HP:0009512	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 2nd finger	A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4024319	hp.json	Triangular end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009512							
HP:0009513	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 2nd finger		UMLS:C4021459	hp.json	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	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 2nd finger	An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024318	hp.json	Bracket shaped end part of the middle long bone of the index finger	http://purl.obolibrary.org/obo/HP_0009514							
HP:0009515	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 2nd finger		UMLS:C4021458	hp.json	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	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024317	hp.json	Enlarged end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009516							
HP:0009517	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024316	hp.json	Fragmentation of end part of the middle long bone of the index finger	http://purl.obolibrary.org/obo/HP_0009517							
HP:0009518	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024315	hp.json	Irregular end part of the middle long bone of the index finger	http://purl.obolibrary.org/obo/HP_0009518							
HP:0009519	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024314	hp.json	Increased bone density of end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009519							
HP:0009520	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 2nd finger	A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024313	hp.json		http://purl.obolibrary.org/obo/HP_0009520							
HP:0009521	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024312	hp.json	Small end part of the innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009521							
HP:0009522	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024311	hp.json	Speckled calcifications in end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009522							
HP:0009523	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 2nd finger		UMLS:C4024310	hp.json	Triangular end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009523							
HP:0009524	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4024309	hp.json	Absent end part of innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009524							
HP:0009525	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 2nd finger	An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4021457	hp.json	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							
HP:0009526	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4021456	hp.json	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	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4021455	hp.json	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	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4024308	hp.json	Fragmentation of end part of innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009528							
HP:0009529	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4024307	hp.json	Irregular end part of innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009529							
HP:0009530	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4024306	hp.json	Increased bone density of end part of the innermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009530							
HP:0009531	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 2nd finger	A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4024305	hp.json		http://purl.obolibrary.org/obo/HP_0009531							
HP:0009532	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4024304	hp.json	Small end part of proximal long bond of index finger	http://purl.obolibrary.org/obo/HP_0009532							
HP:0009533	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4024303	hp.json	Speckled calcifications in end part of the innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009533							
HP:0009534	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 2nd finger		UMLS:C4021454	hp.json	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	biolink:PhenotypicFeature	Aplasia of the 2nd finger	Absent 2nd (index) finger.	UMLS:C4021453	hp.json	Absent index finger|Absent index finger phalanges|Aplasia of the index finger	http://purl.obolibrary.org/obo/HP_0009535							
HP:0009536	biolink:PhenotypicFeature	Short 2nd finger	Hypoplasia of the second finger, also known as the index finger.	UMLS:C1862142	hp.json	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							
HP:0009537	biolink:PhenotypicFeature	Flexion contracture of the 2nd finger	Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.	UMLS:C4021452	hp.json	Joint contractures of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009537							
HP:0009538	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 2nd finger	Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	UMLS:C4024302	hp.json		http://purl.obolibrary.org/obo/HP_0009538							
HP:0009539	biolink:PhenotypicFeature	Contracture of the metacarpophalangeal joint of the 2nd finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	UMLS:C4024301	hp.json		http://purl.obolibrary.org/obo/HP_0009539							
HP:0009540	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 2nd finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	UMLS:C4021451	hp.json	Camptodactyly of 2nd finger|Camptodactyly of index finger|Camptodactyly of second finger	http://purl.obolibrary.org/obo/HP_0009540							
HP:0009541	biolink:PhenotypicFeature	Abnormality of the phalanges of the 2nd finger	Abnormality of the phalanges of the 2nd (index) finger.	UMLS:C4021450	hp.json	Abnormal index finger bones|Abnormality of 2nd finger phalanges	http://purl.obolibrary.org/obo/HP_0009541							
HP:0009542	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 2nd finger		UMLS:C4021449	hp.json	Abnormality of the outermost bone of the 2nd finger|Abnormality of terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009542							
HP:0009543	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 2nd finger		UMLS:C4021448	hp.json	Abnormal middle index finger bone|Abnormality of middle 2nd finger phalanx	http://purl.obolibrary.org/obo/HP_0009543							
HP:0009544	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 2nd finger		UMLS:C4021447	hp.json	Abnormal innermost index finger bone|Abnormality of the proximal 2nd finger phalanx	http://purl.obolibrary.org/obo/HP_0009544							
HP:0009545	biolink:PhenotypicFeature	Symphalangism of the 2nd finger		UMLS:C4021446	hp.json	Fused index finger bones|Symphalangism of index finger phalanges	http://purl.obolibrary.org/obo/HP_0009545							
HP:0009546	biolink:PhenotypicFeature	Triangular shaped phalanges of the 2nd finger	Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4021445	hp.json	Triangular bones of index finger|Triangular index finger phalanges	http://purl.obolibrary.org/obo/HP_0009546							
HP:0009547	biolink:PhenotypicFeature	Broad phalanges of the 2nd finger		UMLS:C4021444	hp.json	Wide index finger bones|Wide/broad index finger phalanges	http://purl.obolibrary.org/obo/HP_0009547							
HP:0009548	biolink:PhenotypicFeature	Bullet-shaped phalanges of the 2nd finger	A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024300	hp.json	Bullet-shaped index finger bones	http://purl.obolibrary.org/obo/HP_0009548							
HP:0009549	biolink:PhenotypicFeature	Curved phalanges of the 2nd finger		UMLS:C4024299	hp.json	Curved index finger bones	http://purl.obolibrary.org/obo/HP_0009549							
HP:0009550	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 2nd finger		UMLS:C4021443	hp.json	Lytic defect in index finger phalanges	http://purl.obolibrary.org/obo/HP_0009550							
HP:0009551	biolink:PhenotypicFeature	Patchy sclerosis of 2nd finger phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.	UMLS:C4021442	hp.json	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							
HP:0009552	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 2nd finger		UMLS:C4024298	hp.json	Absent/small index finger bone|Absent/underdeveloped index finger bone	http://purl.obolibrary.org/obo/HP_0009552							
HP:0009553	biolink:PhenotypicFeature	Abnormality of the hairline	The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.	UMLS:C4024297	hp.json	Abnormality of the hairline	http://purl.obolibrary.org/obo/HP_0009553							
HP:0009554	biolink:PhenotypicFeature	Preauricular hair displacement	An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.	UMLS:C4024296	hp.json	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							
HP:0009555	biolink:PhenotypicFeature	Hypoplasia of the pharynx	Underdevelopment of the pharynx.	UMLS:C4024295|UMLS:C4280396|UMLS:C4280397|UMLS:C4280398|UMLS:C4280399|UMLS:C4280400	hp.json	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							
HP:0009556	biolink:PhenotypicFeature	Absent tibia	Absence of the tibia.	UMLS:C3276744	hp.json	Absent shankbone|Absent shinbone|Aplasia of the tibia	http://purl.obolibrary.org/obo/HP_0009556							hposlim_core
HP:0009557	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger		UMLS:C4024294	hp.json	Absent/small outermost index finger bone|Absent/underdeveloped outermost index finger bone	http://purl.obolibrary.org/obo/HP_0009557							
HP:0009558	biolink:PhenotypicFeature	Broad distal phalanx of the 2nd finger	Increased width of the distal phalanx of the 2nd finger.	UMLS:C4024293	hp.json	Wide outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009558							
HP:0009559	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 2nd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.	UMLS:C4024292	hp.json	Bullet-shaped outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009559							
HP:0009560	biolink:PhenotypicFeature	Curved distal phalanx of the 2nd finger	Curved appearance of the distal phalanx of the 2nd finger.	UMLS:C4024291	hp.json	Curved outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009560							
HP:0009561	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 2nd finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.	UMLS:C4021441	hp.json	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							
HP:0009562	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 2nd finger	Uneven (irregular) increase in bone density of the distal phalanx of the second finger.	UMLS:C4024290	hp.json	Uneven increase in bone density in the outermost bone of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009562							
HP:0009563	biolink:PhenotypicFeature	Distal/middle symphalangism of 2nd finger	Fusion of the terminal/distal and middle phalanges of the 2nd finger.	UMLS:C4021440	hp.json	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							
HP:0009564	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the 2nd finger	Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024289	hp.json	Triangular shaped outermost bone of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009564							
HP:0009565	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the 2nd finger		UMLS:C4021439	hp.json	Absent outermost index finger bone|Absent terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009565							
HP:0009566	biolink:PhenotypicFeature	Short distal phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.	UMLS:C4021438	hp.json	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							
HP:0009568	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger		UMLS:C1862144	hp.json	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	biolink:PhenotypicFeature	Broad middle phalanx of the 2nd finger	Increased width of the middle phalanx of the second finger.	UMLS:C4024288	hp.json	Broad middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009569							
HP:0009570	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 2nd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.	UMLS:C4024287	hp.json	Bullet-shaped middle bone of index finger	http://purl.obolibrary.org/obo/HP_0009570							
HP:0009571	biolink:PhenotypicFeature	Curved middle phalanx of the 2nd finger	Curved appearance of the middle phalanx of the 2nd finger.	UMLS:C4024286	hp.json	Curved middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009571							
HP:0009572	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 2nd finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.	UMLS:C4021437	hp.json	Lytic defects of middle index finger phalanx	http://purl.obolibrary.org/obo/HP_0009572							
HP:0009573	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 2nd finger	Uneven (irregular) increase in bone density of the middle phalanx of the second finger.	UMLS:C4024285	hp.json	Uneven increase in bone density in the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009573							
HP:0009574	biolink:PhenotypicFeature	Symphalangism of middle phalanx of 2nd finger	Fusion of the middle phalanx of the 2nd finger with another bone.	UMLS:C4024284	hp.json	Fused middle bone of index finger	http://purl.obolibrary.org/obo/HP_0009574							
HP:0009575	biolink:PhenotypicFeature	Triangular shaped middle phalanx of the 2nd finger	Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024283	hp.json	Triangular shaped middle bone of index finger	http://purl.obolibrary.org/obo/HP_0009575							
HP:0009576	biolink:PhenotypicFeature	Absent middle phalanx of 2nd finger	Absence of the middle phalanx of the index (2nd) finger.	UMLS:C4021436	hp.json	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							
HP:0009577	biolink:PhenotypicFeature	Short middle phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.	UMLS:C4021435	hp.json	Short middle bone of index finger|Brachymesophalangy II (finger)|Hypoplastic middle index finger phalanx|Hypoplastic/small middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009577							
HP:0009579	biolink:PhenotypicFeature	Proximal/middle symphalangism of the 2nd finger	Fusion of the proximal and middle phalanges of the 2nd finger.	UMLS:C4024282	hp.json	Fused innermost and middle index finger bones	http://purl.obolibrary.org/obo/HP_0009579							
HP:0009580	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger		UMLS:C4024281	hp.json	Absent/small innermost index finger bone|Absent/underdeveloped innermost index finger bone	http://purl.obolibrary.org/obo/HP_0009580							
HP:0009581	biolink:PhenotypicFeature	Broad proximal phalanx of the 2nd finger	Increased width of the proximal phalanx of the 2nd finger.	UMLS:C4021434	hp.json	Wide innermost bone of index finger|Wide/broad proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009581							
HP:0009582	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 2nd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.	UMLS:C4024280	hp.json	Bullet-shaped innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009582							
HP:0009583	biolink:PhenotypicFeature	Curved proximal phalanx of the 2nd finger	Curved appearance of the proximal phalanx of the 2nd finger.	UMLS:C4024279	hp.json	Curved innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009583							
HP:0009584	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 2nd finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.	UMLS:C4021433	hp.json	Lytic defects of proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009584							
HP:0009585	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 2nd finger	Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.	UMLS:C4024278	hp.json	Uneven increase in bone density in innermost index finger bone	http://purl.obolibrary.org/obo/HP_0009585							
HP:0009586	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 2nd finger	Fusion of the proximal phalanx of the 2nd finger with another bone.	UMLS:C4024277	hp.json	Fused innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009586							
HP:0009587	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the 2nd finger	Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4021432	hp.json	Triangular shaped innermost bone of index finger|Triangular proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009587							
HP:0009588	biolink:PhenotypicFeature	Vestibular Schwannoma	A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.	MSH:D009464|NCIT:C3269|SNOMEDCT_US:126949007|SNOMEDCT_US:985004|UMLS:C0027859	hp.json	Vestibular Schwann cell tumour|Acoustic Neuroma|Vestibular Schwann cell tumor|Vestibular neurilemmoma|Vestibular neurinoma|Vestibular neurolemmoma	http://purl.obolibrary.org/obo/HP_0009588							hposlim_core
HP:0009589	biolink:PhenotypicFeature	Bilateral vestibular Schwannoma	A bilateral vestibular Schwannoma (acoustic neurinoma).	MSH:D016518|UMLS:C1136042	hp.json	Bilateral acoustic neuromas	http://purl.obolibrary.org/obo/HP_0009589							
HP:0009590	biolink:PhenotypicFeature	Unilateral vestibular Schwannoma	A unilateral vestibular Schwannoma (acoustic neurinoma).	UMLS:C1863653	hp.json		http://purl.obolibrary.org/obo/HP_0009590							
HP:0009591	biolink:PhenotypicFeature	Abnormality of the vestibulocochlear nerve	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.	UMLS:C4021431	hp.json	Abnormality of the VIIIth cranial nerve|Abnormality of the eighth cranial nerve	http://purl.obolibrary.org/obo/HP_0009591							
HP:0009592	biolink:PhenotypicFeature	Astrocytoma	Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.	MSH:D001254|SNOMEDCT_US:38713004|UMLS:C0004114	hp.json		http://purl.obolibrary.org/obo/HP_0009592							
HP:0009593	biolink:PhenotypicFeature	Peripheral Schwannoma	The presence of a peripheral schwannoma.	UMLS:C4024276	hp.json		http://purl.obolibrary.org/obo/HP_0009593							
HP:0009594	biolink:PhenotypicFeature	Retinal hamartoma	A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.	UMLS:C1863411	hp.json		http://purl.obolibrary.org/obo/HP_0009594							
HP:0009595	biolink:PhenotypicFeature	Occasional neurofibromas	Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.	UMLS:C3810474	hp.json		http://purl.obolibrary.org/obo/HP_0009595							
HP:0009596	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 2nd finger	Absence of the proximal phalanx of the 2nd finger.	UMLS:C4024275	hp.json	Absent innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009596							
HP:0009597	biolink:PhenotypicFeature	Short proximal phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.	UMLS:C4021430	hp.json	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							
HP:0009598	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal	Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.	UMLS:C4024274	hp.json	Fused innermost bone of index finger with 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0009598							
HP:0009599	biolink:PhenotypicFeature	Abnormality of thumb epiphysis	Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.	UMLS:C4021429	hp.json	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							
HP:0009600	biolink:PhenotypicFeature	Flexion contracture of thumb	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.	SNOMEDCT_US:239736003|UMLS:C0409346	hp.json	Contracture of thumb|Flexion deformities of thumbs|Joint contractures of the thumb	http://purl.obolibrary.org/obo/HP_0009600							
HP:0009601	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the thumb	Hypoplastic/small or absent thumb.	MSH:C536903|UMLS:C3179508	hp.json	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							
HP:0009602	biolink:PhenotypicFeature	Abnormality of thumb phalanx	A structural anomaly of one or more phalanges of the thumb.	UMLS:C4021428	hp.json	Abnormality of the thumb bones|Abnormality of thumb phalanges	http://purl.obolibrary.org/obo/HP_0009602							
HP:0009603	biolink:PhenotypicFeature	Deviation of the thumb	Displacement of the thumb from its normal position.	UMLS:C3552414	hp.json	Abnormal thumb placement|Deviated thumb|Displacement of the thumb	http://purl.obolibrary.org/obo/HP_0009603							
HP:0009606	biolink:PhenotypicFeature	Complete duplication of distal phalanx of the thumb	Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.	UMLS:C4021427	hp.json	Complete duplication of outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009606							
HP:0009608	biolink:PhenotypicFeature	Complete duplication of proximal phalanx of the thumb	Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024273	hp.json	Complete duplication of the innermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009608							
HP:0009609	biolink:PhenotypicFeature	Duplication of the 1st metacarpal	Partail or complete duplication of the first metacarpal bone.	UMLS:C4021426	hp.json	Partial/complete duplication of the 1st long bone of hand|Partial/complete duplication of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0009609							
HP:0009611	biolink:PhenotypicFeature	Bifid distal phalanx of the thumb	Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.	UMLS:C1860162	hp.json	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							
HP:0009612	biolink:PhenotypicFeature	Duplication of the distal phalanx of the thumb	Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.	UMLS:C4021425	hp.json	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							
HP:0009613	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the thumb	Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4021424	hp.json	Notched innermost bone of thumb|Partial/complete duplication of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009613							
HP:0009614	biolink:PhenotypicFeature	Bifid proximal phalanx of the thumb	This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024272	hp.json	Notched thumb bone	http://purl.obolibrary.org/obo/HP_0009614							
HP:0009615	biolink:PhenotypicFeature	Complete duplication of the first metacarpal	Complete duplication of the first metacarpal bone.	UMLS:C4024271	hp.json	Complete duplication of the first long bone of hand	http://purl.obolibrary.org/obo/HP_0009615							
HP:0009616	biolink:PhenotypicFeature	Bifid first metacarpal	Partial duplication of the first metacarpal bone.	UMLS:C4021423	hp.json	Notched first long bone of hand|partial duplication of the first metacarpal	http://purl.obolibrary.org/obo/HP_0009616							
HP:0009617	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the thumb	Any anomaly of the distal phalanx of thumb.	UMLS:C4021422	hp.json	Abnormality of the outermost bone of the thumb|Abnormality of terminal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009617							
HP:0009618	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the thumb	An anomaly of the shape or form of the proximal phalanx of the thumb.	UMLS:C4021421	hp.json	Abnormal innermost thumb bone|Abnormality of proximal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009618							
HP:0009620	biolink:PhenotypicFeature	obsolete Radial deviation of the thumb			hp.json		http://purl.obolibrary.org/obo/HP_0009620							
HP:0009621	biolink:PhenotypicFeature	obsolete Ulnar deviation of the thumb			hp.json		http://purl.obolibrary.org/obo/HP_0009621							
HP:0009622	biolink:PhenotypicFeature	Distally placed thumb	Insertion of thumb at a more distal location than normal.	UMLS:C4024270	hp.json		http://purl.obolibrary.org/obo/HP_0009622							
HP:0009623	biolink:PhenotypicFeature	Proximal placement of thumb	Proximal mislocalization of the thumb.	UMLS:C1865572	hp.json	Attachment of thumb close to wrist|Low implantation of the thumb|Low-set thumb|Proximally placed thumbs	http://purl.obolibrary.org/obo/HP_0009623							hposlim_core
HP:0009624	biolink:PhenotypicFeature	Contractures of the carpometacarpal joint of the thumb	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.	UMLS:C4024269	hp.json		http://purl.obolibrary.org/obo/HP_0009624							
HP:0009625	biolink:PhenotypicFeature	Contractures of the metacarpophalangeal joint of the thumb	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.	UMLS:C2108151	hp.json		http://purl.obolibrary.org/obo/HP_0009625							
HP:0009626	biolink:PhenotypicFeature	Contractures of the interphalangeal joint of the thumb	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.	UMLS:C2108146	hp.json	Interphalangeal extension contractures of thumbs	http://purl.obolibrary.org/obo/HP_0009626							
HP:0009629	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanx of the thumb	This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024268	hp.json	Absent/small innermost thumb bone|Absent/underdeveloped innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009629							
HP:0009630	biolink:PhenotypicFeature	Broad proximal phalanx of the thumb	Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024267	hp.json	Broad innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009630							
HP:0009631	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the thumb	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.	UMLS:C4024266	hp.json	Bullet-shaped innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009631							
HP:0009632	biolink:PhenotypicFeature	Curved proximal phalanx of the thumb	A deviation from the normal straight shape of the proximal phalanx of the thumb.	UMLS:C4024265	hp.json	Curved innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009632							
HP:0009633	biolink:PhenotypicFeature	Osteolytic defect of the proximal phalanx of the thumb	Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.	UMLS:C4021420	hp.json	Osteolytic defects of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009633							
HP:0009634	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the thumb	An uneven increase in bone density of the proximal phalanx of the thumb.	UMLS:C4024264	hp.json	Uneven increase in bone density in the innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009634							
HP:0009635	biolink:PhenotypicFeature	Synostosis of thumb phalanx	Fusion of a phalanx of the thumb with another bone.	UMLS:C4024263	hp.json	Fusion of thumb bone	http://purl.obolibrary.org/obo/HP_0009635							
HP:0009636	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the thumb	Triangular shaped proximal phalanx of the thumb.	UMLS:C4021419	hp.json	Triangular innermost thumb bone|Triangular proximal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009636							
HP:0009637	biolink:PhenotypicFeature	Absent proximal phalanx of thumb	Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4021418	hp.json	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							
HP:0009638	biolink:PhenotypicFeature	Short proximal phalanx of thumb	Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C1855091	hp.json	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							
HP:0009640	biolink:PhenotypicFeature	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	Fusion of the proximal phalanx of the thumb with the 1st metacarpal.	UMLS:C4024262	hp.json	Fusion of the innermost bone of the thumb with the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0009640							
HP:0009641	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the thumb		UMLS:C4024261	hp.json	Absent/small outermost thumb bone|Absent/underdeveloped outermost thumb bone	http://purl.obolibrary.org/obo/HP_0009641							
HP:0009642	biolink:PhenotypicFeature	Broad distal phalanx of the thumb	Increased width of the distal phalanx of thumb.	UMLS:C1863402	hp.json	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							
HP:0009643	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the thumb	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.	UMLS:C4024260	hp.json	Bullet-shaped outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009643							
HP:0009644	biolink:PhenotypicFeature	Curved distal phalanx of the thumb	A deviation from the normal straight shape of the distal phalanx of the thumb.	UMLS:C4024259	hp.json	Curved outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009644							
HP:0009645	biolink:PhenotypicFeature	Osteolytic defect of the distal phalanx of the thumb	Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.	UMLS:C4021417	hp.json	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							
HP:0009646	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the thumb	An uneven increase in bone density of the distal phalanx of the thumb.	UMLS:C4024258	hp.json	Uneven increase in bone density in the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009646							
HP:0009648	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the thumb	Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	UMLS:C4024257	hp.json	Triangular shaped outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009648							
HP:0009649	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the thumb	Absence of the distal/terminal phalanx of the thumb.	UMLS:C4021416	hp.json	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							
HP:0009650	biolink:PhenotypicFeature	Short distal phalanx of the thumb	Hypoplastic (short) distal phalanx of the thumb.	UMLS:C1862313	hp.json	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							
HP:0009652	biolink:PhenotypicFeature	Bullet-shaped thumb phalanx	An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021415	hp.json	Bullet-shaped thumb bone|Bullet-shaped phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009652							
HP:0009653	biolink:PhenotypicFeature	Curved thumb phalanx	A deviation from the normal straight shape of a thumb phalanx.	UMLS:C4021414	hp.json	Curved thumb bone|Curved phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009653							
HP:0009654	biolink:PhenotypicFeature	Osteolytic defect of thumb phalanx	Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.	UMLS:C4020905	hp.json	Osteolytic defects of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009654							
HP:0009655	biolink:PhenotypicFeature	Patchy sclerosis of thumb phalanx	An uneven increase in bone density of one or more of the phalanges of the thumb.	UMLS:C4021413	hp.json	Uneven increase in bone density in thumb bone|Patchy sclerosis of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009655							
HP:0009656	biolink:PhenotypicFeature	Symphalangism of the thumb	Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.	UMLS:C1834032	hp.json	Fused thumb bones|Fused thumb phalanges|Symphalangism of the distal and proximal phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009656							
HP:0009657	biolink:PhenotypicFeature	Triangular shaped thumb phalanx	Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.	UMLS:C4021412	hp.json	Triangular shaped thumb bone|Triangular shaped phalanges of the thumb|Triangular thumb phalanges	http://purl.obolibrary.org/obo/HP_0009657							
HP:0009658	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the thumb		UMLS:C4024256	hp.json	Absent/small thumb bones|Absent/underdeveloped thumb bones	http://purl.obolibrary.org/obo/HP_0009658							
HP:0009659	biolink:PhenotypicFeature	Partial absence of thumb	The absence of a phalangeal segment of a thumb.	UMLS:C4020780|UMLS:C4024255	hp.json	Partial absence of thumb|Aplasia of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009659							
HP:0009660	biolink:PhenotypicFeature	Short phalanx of the thumb	Hypoplastic (short) thumb phalanx.	UMLS:C4021411	hp.json	Short thumb bone|Hypoplastic thumb phalanges|Hypoplastic/small phalanges of the thumb|Short thumb phalanges	http://purl.obolibrary.org/obo/HP_0009660							
HP:0009662	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the thumb	Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.	UMLS:C4021410	hp.json	Abnormality of the end part of the outermost bone of the thumb|Abnormality of terminal thumb epiphysis	http://purl.obolibrary.org/obo/HP_0009662							
HP:0009663	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the thumb	This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024254	hp.json	Abnormality of end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009663							
HP:0009664	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the thumb	Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024253	hp.json	Absent end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009664							
HP:0009665	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the thumb	An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024252	hp.json	Bracket shaped end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009665							
HP:0009666	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the thumb	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.	UMLS:C4024251	hp.json	Cone-shaped end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009666							
HP:0009667	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the thumb	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024250	hp.json	Enlarged end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009667							
HP:0009668	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the thumb	Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.	UMLS:C4024249	hp.json	Fragmentation of end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009668							
HP:0009669	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the thumb	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024248	hp.json	Irregular end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009669							
HP:0009670	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the thumb	Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024247	hp.json	Increased bone density of end part of the innermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009670							
HP:0009671	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the thumb	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.	UMLS:C4024246	hp.json		http://purl.obolibrary.org/obo/HP_0009671							
HP:0009672	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the thumb	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.	UMLS:C4024245	hp.json	Small end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009672							
HP:0009673	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the thumb	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024244	hp.json	Speckled calcifications in end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009673							
HP:0009674	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the thumb	A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024243	hp.json	Triangular end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009674							
HP:0009675	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the thumb	Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.	UMLS:C4024242	hp.json	Absent end part of thumb outermost long bone	http://purl.obolibrary.org/obo/HP_0009675							
HP:0009676	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the thumb	An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024241	hp.json	Bracket shaped end part of thumb outermost long bone	http://purl.obolibrary.org/obo/HP_0009676							
HP:0009677	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the thumb	A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.	UMLS:C4021409	hp.json	Cone-shaped end part of thumb outermost long bone|Cone-shaped terminal thumb phalanx epiphysis	http://purl.obolibrary.org/obo/HP_0009677							
HP:0009678	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the thumb	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.	UMLS:C4021408	hp.json	Enlarged end part of thumb outermost long bone|Large terminal thumb phalanx epiphysis	http://purl.obolibrary.org/obo/HP_0009678							
HP:0009679	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the thumb	Epiphysis of the distal phalanx of the thumb having multiple bony fragments.	UMLS:C4024240	hp.json	Fragmentation of end part thumb outermost long bone	http://purl.obolibrary.org/obo/HP_0009679							
HP:0009680	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the thumb	Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.	UMLS:C4024239	hp.json	Irregular end part of thumb outermost bone	http://purl.obolibrary.org/obo/HP_0009680							
HP:0009681	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the thumb	Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4024238	hp.json	Increased bone density of end part of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009681							
HP:0009682	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the thumb	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.	UMLS:C4024237	hp.json	Pseudoepiphysis of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009682							
HP:0009683	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the thumb	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.	UMLS:C4024236	hp.json	Small end part of thumb outermost bone	http://purl.obolibrary.org/obo/HP_0009683							
HP:0009684	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the thumb	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.	UMLS:C4024235	hp.json	Speckled calcifications in the end part of the outermost thumb bone	http://purl.obolibrary.org/obo/HP_0009684							
HP:0009685	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the thumb	A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.	UMLS:C4024234	hp.json	Triangular end part of thumb outermost bone|Triangular epiphysis of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009685							
HP:0009686	biolink:PhenotypicFeature	Absent epiphyses of the thumb	Absence of one or more epiphyses of the thumb.	UMLS:C4024233	hp.json		http://purl.obolibrary.org/obo/HP_0009686							
HP:0009687	biolink:PhenotypicFeature	Bracket epiphyses of the thumb	An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4024232	hp.json	Bracket shaped end part of the thumb bone	http://purl.obolibrary.org/obo/HP_0009687							
HP:0009688	biolink:PhenotypicFeature	Cone-shaped epiphysis of the thumb	A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	UMLS:C4021407	hp.json	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							
HP:0009689	biolink:PhenotypicFeature	Enlarged thumb epiphysis	Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.	UMLS:C4021406	hp.json	Enlarged end part of thumb long bone|Enlarged epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009689							
HP:0009690	biolink:PhenotypicFeature	Fragmentation of thumb epiphysis	Epiphysis of the thumb having multiple bony fragments.	UMLS:C4021405	hp.json	Fragmentation of end part of long bone of thumb|Fragmentation of the epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009690							
HP:0009691	biolink:PhenotypicFeature	Irregular thumb epiphysis	Uneven radiographic opacity of the one or more epiphyses of the thumb.	UMLS:C4021404	hp.json	Irregular end part of thumb long bone|Irregular epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009691							
HP:0009692	biolink:PhenotypicFeature	Ivory epiphysis of the thumb	Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C4021403	hp.json	Increased bone density of end part of the thumb|Ivory epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009692							
HP:0009693	biolink:PhenotypicFeature	Pseudoepiphysis of the thumb	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.	UMLS:C3552484	hp.json	Pseudoepiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009693							
HP:0009694	biolink:PhenotypicFeature	Small thumb epiphysis	Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.	UMLS:C4021402	hp.json	Small end part of thumb long bone|Small epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009694							
HP:0009695	biolink:PhenotypicFeature	Stippling of thumb epiphysis	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.	UMLS:C4021401	hp.json	Speckled calcifications in end part of thumb bone|Stippling of the epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009695							
HP:0009696	biolink:PhenotypicFeature	Triangular epiphyses of the thumb		UMLS:C4024231	hp.json	Triangular end part of the thumb bone	http://purl.obolibrary.org/obo/HP_0009696							
HP:0009697	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the fingers	Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.	UMLS:C4024230	hp.json		http://purl.obolibrary.org/obo/HP_0009697							
HP:0009699	biolink:PhenotypicFeature	Osteolytic defects of the hand bones		UMLS:C4021400	hp.json	Lytic defects of hand bones	http://purl.obolibrary.org/obo/HP_0009699							
HP:0009700	biolink:PhenotypicFeature	Finger symphalangism	An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.	UMLS:C4021399	hp.json	Fused finger bones|Symphalangism of the hand|Synostosis involving bones of the fingers	http://purl.obolibrary.org/obo/HP_0009700							
HP:0009701	biolink:PhenotypicFeature	Metacarpal synostosis	Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).	UMLS:C4021398	hp.json	Fused long bones of hand|Synostosis involving metacarpal bones|Synostosis involving the metacarpal bones	http://purl.obolibrary.org/obo/HP_0009701							hposlim_core
HP:0009702	biolink:PhenotypicFeature	Carpal synostosis	Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).	SNOMEDCT_US:253930002|UMLS:C0431863	hp.json	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							hposlim_core
HP:0009703	biolink:PhenotypicFeature	Synostosis involving the 1st metacarpal	Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4021397	hp.json	Fusion involving 1st long bone of hand|First metacarpophalangeal joint synostosis|Symphalangism affecting the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0009703							
HP:0009704	biolink:PhenotypicFeature	Chronic CSF lymphocytosis	Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.	UMLS:C4024229	hp.json	Chronic cerebrospinal fluid lymphocytosis	http://purl.obolibrary.org/obo/HP_0009704							
HP:0009705	biolink:PhenotypicFeature	Synostosis involving the 2nd metacarpal		UMLS:C4024228	hp.json	Fusion involving the 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0009705							
HP:0009706	biolink:PhenotypicFeature	Synostosis involving the 3rd metacarpal		UMLS:C4024227	hp.json	Fusion involving the 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0009706							
HP:0009707	biolink:PhenotypicFeature	Synostosis involving the 4th metacarpal		UMLS:C4024226	hp.json	Fusion involving the 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0009707							
HP:0009708	biolink:PhenotypicFeature	Synostosis involving the 5th metacarpal		UMLS:C4024225	hp.json	Fusion involving the 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0009708							
HP:0009709	biolink:PhenotypicFeature	Increased CSF interferon alpha	Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).	UMLS:C1856983	hp.json		http://purl.obolibrary.org/obo/HP_0009709							
HP:0009710	biolink:PhenotypicFeature	Chilblains	Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.	UMLS:C4024224	hp.json	Chilblain lesions	http://purl.obolibrary.org/obo/HP_0009710							
HP:0009711	biolink:PhenotypicFeature	Retinal capillary hemangioma	A benign vascular tumor of the retina without any neoplastic characteristics.	NCIT:C3801|SNOMEDCT_US:312935003|UMLS:C0730303|UMLS:C1514915	hp.json	Retinal hemangioblastoma	http://purl.obolibrary.org/obo/HP_0009711							hposlim_core
HP:0009713	biolink:PhenotypicFeature	Spinal hemangioblastoma	A hemangioblastoma of the spinal cord.	NCIT:C3801|UMLS:C4024223	hp.json		http://purl.obolibrary.org/obo/HP_0009713							
HP:0009714	biolink:PhenotypicFeature	Abnormality of the epididymis	An abnormality of the epididymis.	UMLS:C4024222	hp.json		http://purl.obolibrary.org/obo/HP_0009714							
HP:0009715	biolink:PhenotypicFeature	Papillary cystadenoma of the epididymis	A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.	NCIT:C2974|UMLS:C4024221	hp.json		http://purl.obolibrary.org/obo/HP_0009715							
HP:0009716	biolink:PhenotypicFeature	Subependymal nodules	Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.	UMLS:C1968958	hp.json		http://purl.obolibrary.org/obo/HP_0009716							
HP:0009717	biolink:PhenotypicFeature	Cortical tubers	Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.	UMLS:C1968959	hp.json		http://purl.obolibrary.org/obo/HP_0009717							
HP:0009718	biolink:PhenotypicFeature	Subependymal giant-cell astrocytoma	A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.	MSH:D001254|SNOMEDCT_US:1586004|SNOMEDCT_US:449799008|UMLS:C0205768	hp.json		http://purl.obolibrary.org/obo/HP_0009718							
HP:0009719	biolink:PhenotypicFeature	Hypomelanotic macule	Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.	UMLS:C4024220	hp.json	Hypomelanotic macules	http://purl.obolibrary.org/obo/HP_0009719							
HP:0009720	biolink:PhenotypicFeature	Adenoma sebaceum	The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.	MSH:D014402|SNOMEDCT_US:36025004|SNOMEDCT_US:78424008|UMLS:C0265319|UMLS:C1368816	hp.json	Facial angiofibromas|Sebaceous adenoma|Sebaceous adenomas	http://purl.obolibrary.org/obo/HP_0009720							
HP:0009721	biolink:PhenotypicFeature	Shagreen patch	A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.	SNOMEDCT_US:254244007|UMLS:C0432363	hp.json		http://purl.obolibrary.org/obo/HP_0009721							hposlim_core
HP:0009722	biolink:PhenotypicFeature	Dental enamel pits	The presence of small depressions in the dental enamel.	UMLS:C1860711	hp.json	Dental enamel pits|Pitting of tooth enamel|Tooth enamel pits|Dental enamel pitting	http://purl.obolibrary.org/obo/HP_0009722							
HP:0009723	biolink:PhenotypicFeature	Abnormality of the subungual region	A lesion located beneath a fingernail or toenail.	UMLS:C4024219	hp.json		http://purl.obolibrary.org/obo/HP_0009723							
HP:0009724	biolink:PhenotypicFeature	Subungual fibromas	The presence of fibromata beneath finger or toenails.	SNOMEDCT_US:39295002|UMLS:C0266003	hp.json	Subungual fibroma	http://purl.obolibrary.org/obo/HP_0009724							
HP:0009725	biolink:PhenotypicFeature	Bladder neoplasm	The presence of a neoplasm of the urinary bladder.	MSH:D001749|NCIT:C3262|SNOMEDCT_US:126885006|UMLS:C0005695	hp.json	Bladder tumour|Bladder cancer|Bladder tumor	http://purl.obolibrary.org/obo/HP_0009725							
HP:0009726	biolink:PhenotypicFeature	Renal neoplasm	The presence of a neoplasm of the kidney.	MSH:D007680|NCIT:C3262|SNOMEDCT_US:126880001|UMLS:C0022665|UMLS:C1378703	hp.json	Kidney cancer|Renal tumors|Renal tumours|Neoplasia of the kidneys|Renal neoplasia	http://purl.obolibrary.org/obo/HP_0009726							
HP:0009727	biolink:PhenotypicFeature	Achromatic retinal patches	Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.	UMLS:C1860710	hp.json	Punched out areas of chorioretinal hypopigmentation	http://purl.obolibrary.org/obo/HP_0009727							
HP:0009728	biolink:PhenotypicFeature	Neoplasm of striated muscle	A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.	NCIT:C3262|UMLS:C4021396	hp.json	Tumours of striated muscle|Tumors of striated muscle	http://purl.obolibrary.org/obo/HP_0009728							
HP:0009729	biolink:PhenotypicFeature	Cardiac rhabdomyoma	A benign tumor of cardiac striated muscle.	UMLS:C1332852	hp.json		http://purl.obolibrary.org/obo/HP_0009729							
HP:0009730	biolink:PhenotypicFeature	Rhabdomyoma	A benign tumor of striated muscle.	MSH:D012207|NCIT:C3358|SNOMEDCT_US:302846007|SNOMEDCT_US:402877008|SNOMEDCT_US:43375002|UMLS:C0035411	hp.json		http://purl.obolibrary.org/obo/HP_0009730							
HP:0009731	biolink:PhenotypicFeature	Cerebral hamartoma	The presence of a hamartoma of the cerebrum.	UMLS:C4024218	hp.json	Cerebral hamartomata	http://purl.obolibrary.org/obo/HP_0009731							
HP:0009732	biolink:PhenotypicFeature	Plexiform neurofibroma	A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.	MSH:D018318|SNOMEDCT_US:403818001|SNOMEDCT_US:41252002|UMLS:C0206728	hp.json		http://purl.obolibrary.org/obo/HP_0009732							
HP:0009733	biolink:PhenotypicFeature	Glioma	The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).	MSH:D005910|NCIT:C3059|SNOMEDCT_US:115240006|SNOMEDCT_US:393564001|SNOMEDCT_US:74532006|UMLS:C0017638	hp.json		http://purl.obolibrary.org/obo/HP_0009733							
HP:0009734	biolink:PhenotypicFeature	Optic nerve glioma	A glioma originating in the optic nerve or optic chiasm.	MSH:D020339|SNOMEDCT_US:254976006|SNOMEDCT_US:404662003|UMLS:C0346326	hp.json	Optic glioma	http://purl.obolibrary.org/obo/HP_0009734							
HP:0009735	biolink:PhenotypicFeature	Spinal neurofibromas	Neurofibromas originating in the spine.	UMLS:C4024217	hp.json		http://purl.obolibrary.org/obo/HP_0009735							
HP:0009736	biolink:PhenotypicFeature	Tibial pseudarthrosis	Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.	UMLS:C4024216	hp.json	Tibial pseudoarthrosis	http://purl.obolibrary.org/obo/HP_0009736							
HP:0009737	biolink:PhenotypicFeature	Lisch nodules	The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..	UMLS:C1860334	hp.json	Iris hamartomas	http://purl.obolibrary.org/obo/HP_0009737							hposlim_core
HP:0009738	biolink:PhenotypicFeature	Abnormality of the antihelix	An abnormality of the antihelix.	UMLS:C4021395	hp.json	Abnormal antehelix|Abnormal anthelix|Abnormal antihelix	http://purl.obolibrary.org/obo/HP_0009738							hposlim_core
HP:0009739	biolink:PhenotypicFeature	Hypoplasia of the antihelix	Developmental hypoplasia of the antihelix.	UMLS:C4021394	hp.json	Hypoplastic antihelix	http://purl.obolibrary.org/obo/HP_0009739							
HP:0009740	biolink:PhenotypicFeature	Aplasia of the parotid gland	Absence of the parotid gland.	UMLS:C1400252|UMLS:C4020779|UMLS:C4024215	hp.json	Abnormally small parotid gland|Underdevelopment of parotid gland|Absence of the parotid gland|Hypoplasia of parotid gland	http://purl.obolibrary.org/obo/HP_0009740							
HP:0009741	biolink:PhenotypicFeature	Nephrosclerosis	Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.	MSH:D009400|SNOMEDCT_US:32916005|UMLS:C0027719	hp.json	Scarring of kidney arteries|Thickening of kidney artiries	http://purl.obolibrary.org/obo/HP_0009741							
HP:0009742	biolink:PhenotypicFeature	Stiff shoulders	Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.	SNOMEDCT_US:249918006|UMLS:C0241042	hp.json	Stiff shoulders	http://purl.obolibrary.org/obo/HP_0009742							
HP:0009743	biolink:PhenotypicFeature	Distichiasis	Double rows of eyelashes.	SNOMEDCT_US:95339000|UMLS:C0423848	hp.json	Distichiasis of eyelid eyelashes	http://purl.obolibrary.org/obo/HP_0009743							hposlim_core
HP:0009744	biolink:PhenotypicFeature	Abnormal spinal dura mater morphology	An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.	UMLS:C4024214	hp.json	Abnormality of the spinal dura mater	http://purl.obolibrary.org/obo/HP_0009744							
HP:0009745	biolink:PhenotypicFeature	Spinal arachnoid cyst	Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.	UMLS:C4021393	hp.json	Epidural arachnoid cysts of the spinal canal	http://purl.obolibrary.org/obo/HP_0009745							
HP:0009746	biolink:PhenotypicFeature	Thick nasal septum	Abnormally increased thickness of the nasal septum.	UMLS:C1844810	hp.json	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							
HP:0009747	biolink:PhenotypicFeature	Lumbosacral hirsutism	Abnormally increased hair growth in the lumbosacral region.	UMLS:C1851095	hp.json		http://purl.obolibrary.org/obo/HP_0009747							
HP:0009748	biolink:PhenotypicFeature	Large earlobe	Increased volume of the earlobe, that is, abnormally prominent ear lobules.	UMLS:C1844573	hp.json	Fleshy earlobe|Fleshy earlobes|Large earlobe|Prominent ear lobes|prominent ear lobules	http://purl.obolibrary.org/obo/HP_0009748							hposlim_core
HP:0009751	biolink:PhenotypicFeature	Aplasia of the pectoralis major muscle	Absence of the pectoralis major muscle.	UMLS:C4024213	hp.json	Absent pectoralis major muscle	http://purl.obolibrary.org/obo/HP_0009751							
HP:0009752	biolink:PhenotypicFeature	Cleft in skull base	A bony defect in the skull base.	UMLS:C1856027	hp.json	Cleft in skull base|Cleft in cranial base	http://purl.obolibrary.org/obo/HP_0009752							
HP:0009754	biolink:PhenotypicFeature	Fibrous syngnathia	Complete or nearly complete soft tissue fusion of the alveolar ridges.	UMLS:C4021392	hp.json	Alveolar synechiae|Fusion of the alveolar ridges	http://purl.obolibrary.org/obo/HP_0009754							hposlim_core
HP:0009755	biolink:PhenotypicFeature	Ankyloblepharon	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.	MSH:C536373|SNOMEDCT_US:193953008|SNOMEDCT_US:400952003|UMLS:C0339182|UMLS:C1302999	hp.json	Adhesion of eyelids|Eyelids stuck together|Ankyloblepharon filiforme adnatum|Eyelid synechiae	http://purl.obolibrary.org/obo/HP_0009755							hposlim_core
HP:0009756	biolink:PhenotypicFeature	Popliteal pterygium	A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).	UMLS:C3805420	hp.json		http://purl.obolibrary.org/obo/HP_0009756							hposlim_core
HP:0009757	biolink:PhenotypicFeature	Intercrural pterygium	A pterygium (or pterygia) in the intercrural (groin) region.	UMLS:C3810471	hp.json		http://purl.obolibrary.org/obo/HP_0009757							
HP:0009758	biolink:PhenotypicFeature	Pyramidal skinfold extending from the base to the top of the nails	Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.	UMLS:C4024212	hp.json		http://purl.obolibrary.org/obo/HP_0009758							
HP:0009759	biolink:PhenotypicFeature	Neck pterygia	Pterygia affecting the neck.	UMLS:C1849577	hp.json	Neck pterygium	http://purl.obolibrary.org/obo/HP_0009759							
HP:0009760	biolink:PhenotypicFeature	Antecubital pterygium	Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.	MSH:C566738|UMLS:C1867439	hp.json	Pterygium cubitale|Webbed elbow	http://purl.obolibrary.org/obo/HP_0009760							hposlim_core
HP:0009761	biolink:PhenotypicFeature	Anterior clefting of vertebral bodies	Anterior schisis (cleft or cleavage) of vertebral bodies.	UMLS:C1849579	hp.json		http://purl.obolibrary.org/obo/HP_0009761							
HP:0009762	biolink:PhenotypicFeature	Facial wrinkling	Excessive wrinkling of the skin of the face.	SNOMEDCT_US:248194004|UMLS:C0262478	hp.json	Facial wrinkling	http://purl.obolibrary.org/obo/HP_0009762							
HP:0009763	biolink:PhenotypicFeature	Limb pain	Chronic pain in the limbs with no clear focal etiology.	SNOMEDCT_US:90834002|UMLS:C0030196	hp.json	Limb pain|Pain in extremities	http://purl.obolibrary.org/obo/HP_0009763							
HP:0009765	biolink:PhenotypicFeature	Low hanging columella	Columella extending inferior to the level of the nasal base, when viewed from the side.	UMLS:C1856119|UMLS:C4280395	hp.json	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							
HP:0009767	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the hand	Small or missing phalangeal bones of the fingers of the hand.	UMLS:C1848670	hp.json	Aplastic/hypoplastic phalanges|Aplastic/hypoplastic phalanges of the hand|Hypoplastic/absent phalanges	http://purl.obolibrary.org/obo/HP_0009767							
HP:0009768	biolink:PhenotypicFeature	Broad phalanges of the hand	Increased width of the phalanges of the hand.	UMLS:C4021391	hp.json	Wide hand bones|Widening of phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009768							
HP:0009769	biolink:PhenotypicFeature	Bullet-shaped phalanges of the hand	The presence of short and wide phalanges which taper distally ("bullet shaped").	UMLS:C1854952	hp.json	Bullet-shaped hand bones|Bullet-shaped phalanges of the hands|Conical bullet-shaped distal ends of phalanges	http://purl.obolibrary.org/obo/HP_0009769							
HP:0009770	biolink:PhenotypicFeature	Curved phalanges of the hand		UMLS:C4024211	hp.json	Curved hand bones	http://purl.obolibrary.org/obo/HP_0009770							
HP:0009771	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the hand	Dissolution or degeneration of bone tissue of the phalanges of the hand.	MSH:D030981|SNOMEDCT_US:27201004|SNOMEDCT_US:63122002|UMLS:C0917990	hp.json	Breakdown of small bones of fingers|Acro-osteolysis|Acroosteolysis	http://purl.obolibrary.org/obo/HP_0009771							
HP:0009772	biolink:PhenotypicFeature	Patchy sclerosis of finger phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.	UMLS:C1857508	hp.json	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							
HP:0009773	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the hand	Fusion of two or more phalangeal bones of the hand.	UMLS:C4021390	hp.json	Fused finger bones of the hand|Synostosis involving phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009773							
HP:0009774	biolink:PhenotypicFeature	Triangular shaped phalanges of the hand		UMLS:C2673397	hp.json	Triangular shaped hand bones|Delta phalanx/delta-like phalanx	http://purl.obolibrary.org/obo/HP_0009774							
HP:0009775	biolink:PhenotypicFeature	Amniotic constriction ring	Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.	MSH:C535821|MSH:D000652|SNOMEDCT_US:19988008|SNOMEDCT_US:238879003|UMLS:C0334166|UMLS:C1527388	hp.json	Amniotic bands|Pseudoainhum|Amniotic constriction band	http://purl.obolibrary.org/obo/HP_0009775							
HP:0009776	biolink:PhenotypicFeature	Adactyly	The absence of all phalanges of all the digits of a limb and the associated soft tissues.	Fyler:4173|SNOMEDCT_US:275348004|UMLS:C0238591|UMLS:C4280394	hp.json	Absent fingers or toes|Aphalangy	http://purl.obolibrary.org/obo/HP_0009776							hposlim_core
HP:0009777	biolink:PhenotypicFeature	Absent thumb	Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.	UMLS:C3278811	hp.json	Absent thumb|Absent thumbs|Aplasia of the thumb|Thumb aplasia	http://purl.obolibrary.org/obo/HP_0009777							hposlim_core
HP:0009778	biolink:PhenotypicFeature	Short thumb	Hypoplasia (congenital reduction in size) of the thumb.	MSH:C536903|SNOMEDCT_US:253936008|UMLS:C0431890	hp.json	Short thumb|Short thumbs|Small thumbs|Hypoplastic thumb|Hypoplastic thumbs|Hypoplastic/small thumb|Thumb brachydactyly|Thumb hypoplasia	http://purl.obolibrary.org/obo/HP_0009778							hposlim_core
HP:0009779	biolink:PhenotypicFeature	3-4 toe syndactyly	Syndactyly with fusion of toes three and four.	UMLS:C1834062	hp.json	Webbed 3rd-4th toes|syndactyly of 3rd - 4th toes	http://purl.obolibrary.org/obo/HP_0009779							
HP:0009780	biolink:PhenotypicFeature	Iliac horns	Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.	SNOMEDCT_US:84308008|UMLS:C0263925	hp.json		http://purl.obolibrary.org/obo/HP_0009780							
HP:0009781	biolink:PhenotypicFeature	Lester's sign	A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.	UMLS:C4024210	hp.json		http://purl.obolibrary.org/obo/HP_0009781							
HP:0009782	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the biceps	Absence or underdevelopment of the biceps muscle.	UMLS:C4024209	hp.json	Absent/small biceps|Absent/underdeveloped biceps	http://purl.obolibrary.org/obo/HP_0009782							
HP:0009783	biolink:PhenotypicFeature	Biceps aplasia	Absence of the biceps muscle.	UMLS:C3805764	hp.json	Absent biceps	http://purl.obolibrary.org/obo/HP_0009783							
HP:0009784	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the triceps	Absence or underdevelopment of the triceps muscle.	UMLS:C4024208	hp.json	Absent/small triceps|Absent/underdeveloped triceps	http://purl.obolibrary.org/obo/HP_0009784							
HP:0009785	biolink:PhenotypicFeature	Triceps aplasia	Absence of the triceps muscle.	UMLS:C3810484	hp.json	Absent triceps	http://purl.obolibrary.org/obo/HP_0009785							
HP:0009786	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the musculature of the thigh	Absence or underdevelopment involving the musculature of the thigh.	UMLS:C4024207	hp.json	Absent/small thigh muscles|Absent/underdeveloped thigh muscles	http://purl.obolibrary.org/obo/HP_0009786							
HP:0009787	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the quadriceps	Absence or underdevelopment of the quadriceps muscle.	UMLS:C4024206	hp.json	Absent/small quadriceps|Absent/underdeveloped quadriceps	http://purl.obolibrary.org/obo/HP_0009787							
HP:0009788	biolink:PhenotypicFeature	Quadriceps aplasia	Absence of the quadriceps muscle.	UMLS:C3805765	hp.json	Absent quads	http://purl.obolibrary.org/obo/HP_0009788							
HP:0009789	biolink:PhenotypicFeature	Perianal abscess	The presence of an abscess located around the anus.	SNOMEDCT_US:82127005|UMLS:C0031019	hp.json		http://purl.obolibrary.org/obo/HP_0009789							
HP:0009790	biolink:PhenotypicFeature	Hemisacrum	A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.	UMLS:C2677632	hp.json		http://purl.obolibrary.org/obo/HP_0009790							
HP:0009791	biolink:PhenotypicFeature	Bifid sacrum	Presence of a bifid sacral bone.	UMLS:C4024204	hp.json		http://purl.obolibrary.org/obo/HP_0009791							
HP:0009792	biolink:PhenotypicFeature	Teratoma	The presence of a teratoma.	MSH:D013724|NCIT:C3403|SNOMEDCT_US:55818009|UMLS:C0039538	hp.json		http://purl.obolibrary.org/obo/HP_0009792							
HP:0009793	biolink:PhenotypicFeature	Presacral teratoma	A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).	UMLS:C1867782	hp.json	Altman type IV sacrococcygeal teratoma|Retrorectal teratoma	http://purl.obolibrary.org/obo/HP_0009793							
HP:0009794	biolink:PhenotypicFeature	Branchial anomaly	Congenital developmental defect arising from the primitive branchial apparatus.	UMLS:C1862066	hp.json	Abnormality of branchial apparatus|Abnormality of branchial arch|Branchial abnormality|Branchial anomalies	http://purl.obolibrary.org/obo/HP_0009794							hposlim_core
HP:0009795	biolink:PhenotypicFeature	Branchial fistula	A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.	SNOMEDCT_US:204268008|UMLS:C0546968	hp.json	Branchial cleft fistula	http://purl.obolibrary.org/obo/HP_0009795							hposlim_core
HP:0009796	biolink:PhenotypicFeature	Branchial cyst	A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.	MSH:D001935|SNOMEDCT_US:42362005|SNOMEDCT_US:59857007|UMLS:C0006131	hp.json	Branchial cysts|Branchial cleft cyst	http://purl.obolibrary.org/obo/HP_0009796							
HP:0009797	biolink:PhenotypicFeature	Cholesteatoma	Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.	MSH:D002781|SNOMEDCT_US:363668000|SNOMEDCT_US:575006|UMLS:C0008373	hp.json		http://purl.obolibrary.org/obo/HP_0009797							
HP:0009798	biolink:PhenotypicFeature	Euthyroid goiter	A goiter that is not associated with functional thyroid abnormalities.	MSH:C562732|SNOMEDCT_US:32251000119106|UMLS:C0302859	hp.json	Euthyroid goitre	http://purl.obolibrary.org/obo/HP_0009798							
HP:0009799	biolink:PhenotypicFeature	Supernumerary spleens	The presence of two or more accessory spleens.	SNOMEDCT_US:10362008|UMLS:C0266631	hp.json	Extra spleen	http://purl.obolibrary.org/obo/HP_0009799							
HP:0009800	biolink:PhenotypicFeature	Maternal diabetes	Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.	MSH:D016640|SNOMEDCT_US:11687002|UMLS:C0085207|UMLS:C4020778	hp.json	Maternal diabetes|gestational diabetes|maternal hyperglycemia	http://purl.obolibrary.org/obo/HP_0009800							
HP:0009802	biolink:PhenotypicFeature	Aplasia of the phalanges of the hand	Absence of one or more of the phalanges of the hand.	UMLS:C4024203|UMLS:C4280393	hp.json	Absent finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009802							
HP:0009803	biolink:PhenotypicFeature	Short phalanx of finger	Short (hypoplastic) phalanx of finger, affecting one or more phalanges.	UMLS:C0877165	hp.json	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							
HP:0009804	biolink:PhenotypicFeature	Tooth agenesis	The absence of one or more teeth from the normal series by a failure to develop	UMLS:C4024202|UMLS:C4083050	hp.json	Decreased tooth count|Reduced number of teeth|Teeth, agenesis|Decreased number of teeth|Fewer teeth than normal|Missing some teeth|Tooth agenesis|Dental agenesis|Failure of development of some teeth	http://purl.obolibrary.org/obo/HP_0009804							
HP:0009805	biolink:PhenotypicFeature	Low-output congestive heart failure	A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.	UMLS:C4024201	hp.json		http://purl.obolibrary.org/obo/HP_0009805							
HP:0009806	biolink:PhenotypicFeature	Nephrogenic diabetes insipidus	A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).	MSH:D018500|SNOMEDCT_US:111395007|UMLS:C0162283	hp.json		http://purl.obolibrary.org/obo/HP_0009806							
HP:0009808	biolink:PhenotypicFeature	Anomaly of the upper limb diaphyses	A structural abnormality of a diaphysis of the arm.	UMLS:C4021389	hp.json	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							
HP:0009809	biolink:PhenotypicFeature	Abnormality of upper limb metaphysis	An anomaly of one or more metaphyses of the arms.	UMLS:C4021388	hp.json	Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs	http://purl.obolibrary.org/obo/HP_0009809							
HP:0009810	biolink:PhenotypicFeature	Abnormality of upper limb joint		UMLS:C4021387	hp.json	Abnormality of the joints of the upper limbs|Abnormality of upper limb joint	http://purl.obolibrary.org/obo/HP_0009810							
HP:0009811	biolink:PhenotypicFeature	Abnormality of the elbow	An anomaly of the joint that connects the upper and the lower arm.	UMLS:C4021386	hp.json	Abnormality of the elbow|Abnormality of the elbows	http://purl.obolibrary.org/obo/HP_0009811							hposlim_core
HP:0009812	biolink:PhenotypicFeature	Amelia involving the upper limbs	Amelia of one or both upper limbs.	UMLS:C4024200	hp.json		http://purl.obolibrary.org/obo/HP_0009812							
HP:0009813	biolink:PhenotypicFeature	Upper limb phocomelia	Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).	SNOMEDCT_US:253926000|UMLS:C0265573	hp.json		http://purl.obolibrary.org/obo/HP_0009813							
HP:0009814	biolink:PhenotypicFeature	Upper limb peromelia	Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.	UMLS:C4024199	hp.json		http://purl.obolibrary.org/obo/HP_0009814							
HP:0009815	biolink:PhenotypicFeature	Aplasia/hypoplasia of the extremities	Absence (due to failure to form) or underdevelopment of the extremities.	UMLS:C0239399	hp.json	Absent/small extremities|Absent/underdeveloped extremities|Short or absent limbs|Shortened limbs	http://purl.obolibrary.org/obo/HP_0009815							
HP:0009816	biolink:PhenotypicFeature	Lower limb undergrowth	Leg shortening because of underdevelopment of one or more bones of the lower extremity.	SNOMEDCT_US:253959002|UMLS:C0345371	hp.json	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							
HP:0009817	biolink:PhenotypicFeature	Aplasia involving bones of the lower limbs		UMLS:C4024198	hp.json	Absent bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0009817							
HP:0009818	biolink:PhenotypicFeature	Amelia involving the lower limbs	Amelia of one or both legs.	UMLS:C4024197	hp.json		http://purl.obolibrary.org/obo/HP_0009818							
HP:0009819	biolink:PhenotypicFeature	Lower limb phocomelia	Phocomelia affecting only the lower limbs.	SNOMEDCT_US:253963009|UMLS:C0265625	hp.json		http://purl.obolibrary.org/obo/HP_0009819							
HP:0009820	biolink:PhenotypicFeature	Lower limb peromelia	Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.	UMLS:C4024196	hp.json		http://purl.obolibrary.org/obo/HP_0009820							
HP:0009821	biolink:PhenotypicFeature	Forearm undergrowth	Forearm shortening because of underdevelopment of one or more bones of the forearm.	UMLS:C1855299	hp.json	Forearm undergrowth|Short forearm bones|Short forearms|Shortened forearm|Hypoplasia involving forearm bones	http://purl.obolibrary.org/obo/HP_0009821							
HP:0009822	biolink:PhenotypicFeature	Aplasia involving forearm bones		UMLS:C4024195	hp.json	Absent forearm bones	http://purl.obolibrary.org/obo/HP_0009822							
HP:0009823	biolink:PhenotypicFeature	Aplasia involving bones of the upper limbs		UMLS:C4024194	hp.json	Absent bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0009823							
HP:0009824	biolink:PhenotypicFeature	Upper limb undergrowth	Arm shortening because of underdevelopment of one or more bones of the upper extremity.	UMLS:C1837406	hp.json	Short arms|Shortening of the arms|Upper limb undergrowth|Hypoplasia involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0009824							
HP:0009825	biolink:PhenotypicFeature	Aplasia involving bones of the extremities		UMLS:C4024193	hp.json	Absent bones of the extremities	http://purl.obolibrary.org/obo/HP_0009825							
HP:0009826	biolink:PhenotypicFeature	Limb undergrowth	Limb shortening because of underdevelopment of one or more bones of the extremities.	UMLS:C0239399	hp.json	Limb undergrowth|Short limb|Short limbs|limb shortening|Hypoplasia involving bones of the extremities	http://purl.obolibrary.org/obo/HP_0009826							
HP:0009827	biolink:PhenotypicFeature	Amelia	Congenital absence (aplasia) of one or more limbs.	MEDDRA:10001926|MSH:D004480|SNOMEDCT_US:62588002|UMLS:C0002447	hp.json		http://purl.obolibrary.org/obo/HP_0009827							hposlim_core
HP:0009828	biolink:PhenotypicFeature	Peromelia	The distal parts of the limbs are missing leading to a stump formation.	UMLS:C4024192	hp.json		http://purl.obolibrary.org/obo/HP_0009828							
HP:0009829	biolink:PhenotypicFeature	Phocomelia	Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).	MEDDRA:10034923|MSH:D004480|SNOMEDCT_US:22841008|UMLS:C0031575	hp.json		http://purl.obolibrary.org/obo/HP_0009829							hposlim_core
HP:0009830	biolink:PhenotypicFeature	Peripheral neuropathy	Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.	MSH:D010523|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C0442874	hp.json	Peripheral nerve damage|Peripheral neuritis|Neuropathy	http://purl.obolibrary.org/obo/HP_0009830							
HP:0009831	biolink:PhenotypicFeature	Mononeuropathy	A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.	MSH:D020422|SNOMEDCT_US:128189008|UMLS:C0494491	hp.json	Single damaged nerve	http://purl.obolibrary.org/obo/HP_0009831							
HP:0009832	biolink:PhenotypicFeature	Abnormal distal phalanx morphology of finger	Any anomaly of distal phalanx of finger.	UMLS:C4021385	hp.json	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							
HP:0009833	biolink:PhenotypicFeature	Abnormal middle phalanx morphology of the hand	An anomaly of middle phalanx of finger.	UMLS:C4024191	hp.json	Abnormality of the middle finger bones of the hand|Abnormality of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833							
HP:0009834	biolink:PhenotypicFeature	Abnormal proximal phalanx morphology of the hand		UMLS:C4024190	hp.json	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	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanges of the hand	Absence or underdevelopment of the distal phalanges.	UMLS:C1861336	hp.json	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							
HP:0009836	biolink:PhenotypicFeature	Broad distal phalanx of finger	Abnormally wide (broad) distal phalanx of finger.	UMLS:C1850630	hp.json	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							
HP:0009837	biolink:PhenotypicFeature	Bullet-shaped distal phalanges of the hand	Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024189	hp.json	Bullet-shaped outermost finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009837							
HP:0009838	biolink:PhenotypicFeature	Curved distal phalanges of the hand		UMLS:C4024188	hp.json	Curved outermost finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009838							
HP:0009839	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanges of the hand		UMLS:C1849547	hp.json	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	biolink:PhenotypicFeature	Patchy sclerosis of distal phalanx of finger	Uneven (irregular) increase in bone density of the distal phalanges of the hand.	UMLS:C4021384	hp.json	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							
HP:0009843	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanges of the hand		UMLS:C1862152	hp.json	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	biolink:PhenotypicFeature	Broad middle phalanx of finger	Increased width of the middle phalanx of finger.	UMLS:C4021383	hp.json	Broad middle finger bones|Broad middle phalanges of finger|Broad middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009844							
HP:0009845	biolink:PhenotypicFeature	Bullet-shaped middle phalanges of the hand	Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024187	hp.json		http://purl.obolibrary.org/obo/HP_0009845							
HP:0009846	biolink:PhenotypicFeature	Curved middle phalanges of the hand		UMLS:C4024186	hp.json	Curved middle finger bonds of the hand	http://purl.obolibrary.org/obo/HP_0009846							
HP:0009847	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanges of the hand		UMLS:C4024185	hp.json		http://purl.obolibrary.org/obo/HP_0009847							
HP:0009848	biolink:PhenotypicFeature	Patchy sclerosis of middle phalanx of finger	Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.	UMLS:C4021382	hp.json	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							
HP:0009849	biolink:PhenotypicFeature	Symphalangism of middle phalanx of finger	Fusion of a middle phalanx of a finger with another bone.	UMLS:C4024184	hp.json	Fused middle finger bone	http://purl.obolibrary.org/obo/HP_0009849							
HP:0009850	biolink:PhenotypicFeature	Triangular shaped middle phalanges of the hand		UMLS:C4024183	hp.json	Triangular shaped middle finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009850							
HP:0009851	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanges of the hand		UMLS:C4024182	hp.json	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	biolink:PhenotypicFeature	Broad proximal phalanges of the hand	Increased width of the proximal phalanges of the finger.	UMLS:C4024181	hp.json	Broad innermost finger bones of the hand|Wide innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009852							
HP:0009853	biolink:PhenotypicFeature	Bullet-shaped proximal phalanges of the hand	Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024180	hp.json	Bullet-shaped innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009853							
HP:0009854	biolink:PhenotypicFeature	Curved proximal phalanges of the hand		UMLS:C4024179	hp.json	Curved innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009854							
HP:0009855	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanges of the hand		UMLS:C1850148	hp.json	Proximal phalanges osteolysis	http://purl.obolibrary.org/obo/HP_0009855							
HP:0009856	biolink:PhenotypicFeature	Patchy sclerosis of proximal phalanx of finger	Uneven increase in bone density of the proximal phalanges of the hand.	UMLS:C4021381	hp.json	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							
HP:0009857	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanges of the hand		UMLS:C4024178	hp.json	Fused innermost hand bones	http://purl.obolibrary.org/obo/HP_0009857							
HP:0009858	biolink:PhenotypicFeature	Triangular shaped proximal phalanges of the hand		UMLS:C4024177	hp.json	Triangular shaped innermost finger bone	http://purl.obolibrary.org/obo/HP_0009858							
HP:0009875	biolink:PhenotypicFeature	Triangular shaped distal phalanges of the hand		UMLS:C4024176	hp.json	Triangular shaped outermost bone of the hand	http://purl.obolibrary.org/obo/HP_0009875							
HP:0009878	biolink:PhenotypicFeature	Cerebellar ataxia associated with quadrupedal gait	The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).	UMLS:C4024175	hp.json		http://purl.obolibrary.org/obo/HP_0009878							
HP:0009879	biolink:PhenotypicFeature	Simplified gyral pattern	An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.	UMLS:C2749675	hp.json	Cortical gyral simplification	http://purl.obolibrary.org/obo/HP_0009879							
HP:0009880	biolink:PhenotypicFeature	Broad distal phalanges of all fingers	Abnormally wide (broad) distal phalanx of finger of all fingers.	UMLS:C4024174	hp.json	Broad outermost hand bones	http://purl.obolibrary.org/obo/HP_0009880							
HP:0009881	biolink:PhenotypicFeature	Aplasia of the distal phalanges of the hand		UMLS:C4024173	hp.json	Absent outermost hand bone|Absent distal phalanges of the hand|Aplasia of outermost hand bone	http://purl.obolibrary.org/obo/HP_0009881							
HP:0009882	biolink:PhenotypicFeature	Short distal phalanx of finger	Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.	UMLS:C1839829	hp.json	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							hposlim_core
HP:0009883	biolink:PhenotypicFeature	Duplication of the distal phalanx of hand	This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C1849343	hp.json	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							
HP:0009884	biolink:PhenotypicFeature	Tapered distal phalanges of finger	A reduction in diameter of the distal phalanx of finger towards the distal end.	UMLS:C1969237	hp.json	Tapered outermost finger bone|Tapered distal phalanges|Tapered distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009884							
HP:0009885	biolink:PhenotypicFeature	obsolete Prenatal short stature			hp.json		http://purl.obolibrary.org/obo/HP_0009885							
HP:0009886	biolink:PhenotypicFeature	Trichorrhexis nodosa	Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.	SNOMEDCT_US:22486004|SNOMEDCT_US:238736006|UMLS:C0263485	hp.json		http://purl.obolibrary.org/obo/HP_0009886							
HP:0009887	biolink:PhenotypicFeature	Abnormality of hair pigmentation	An abnormality of hair pigmentation (color).	UMLS:C4024172	hp.json	Abnormality of hair color|Abnormality of hair pigmentation|Abnormality of hair colour	http://purl.obolibrary.org/obo/HP_0009887							
HP:0009888	biolink:PhenotypicFeature	Abnormality of secondary sexual hair	Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.	UMLS:C4024171	hp.json	Abnormality of secondary sexual hair	http://purl.obolibrary.org/obo/HP_0009888							
HP:0009889	biolink:PhenotypicFeature	Localized hirsutism	Abnormally increased hair growth with a localized distribution.	UMLS:C4024170	hp.json	Localized abnormal hair growth|Localised abnormal hair growth|Localised hirsutism	http://purl.obolibrary.org/obo/HP_0009889							
HP:0009890	biolink:PhenotypicFeature	High anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.	UMLS:C3276036	hp.json	High frontal hairline	http://purl.obolibrary.org/obo/HP_0009890							hposlim_core
HP:0009891	biolink:PhenotypicFeature	Underdeveloped supraorbital ridges	Flatness of the supraorbital portion of the frontal bones.	UMLS:C1861869|UMLS:C4020777	hp.json	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							hposlim_core
HP:0009892	biolink:PhenotypicFeature	Anotia	Complete absence of any auricular structures.	MSH:D065817|SNOMEDCT_US:57436000|UMLS:C0702139|UMLS:C1408788	hp.json	Absent ear|Absent ears|Congenital absence of external ear	http://purl.obolibrary.org/obo/HP_0009892							hposlim_core
HP:0009893	biolink:PhenotypicFeature	Telangiectasia of the ear	The presence of telangiectasia of the ear.	UMLS:C4024169	hp.json		http://purl.obolibrary.org/obo/HP_0009893							hposlim_core
HP:0009894	biolink:PhenotypicFeature	Thickened ears	Increased thickness of the external ear.	UMLS:C4024168	hp.json	Thickened ears	http://purl.obolibrary.org/obo/HP_0009894							hposlim_core
HP:0009895	biolink:PhenotypicFeature	Abnormality of the crus of the helix	An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.	UMLS:C4021380	hp.json	Abnormality of the crus of the ear	http://purl.obolibrary.org/obo/HP_0009895							
HP:0009896	biolink:PhenotypicFeature	Abnormality of the antitragus	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.	UMLS:C4024167	hp.json		http://purl.obolibrary.org/obo/HP_0009896							hposlim_core
HP:0009897	biolink:PhenotypicFeature	Horizontal crus of helix	An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.	UMLS:C4021379	hp.json	Helix, crus, horizontal|Horizontal orientation of the crus of helix|Horizontal orientation of the ear crus	http://purl.obolibrary.org/obo/HP_0009897							hposlim_core
HP:0009898	biolink:PhenotypicFeature	Underdeveloped crus of the helix	Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.	UMLS:C4021378	hp.json	Hypoplasia of the crus of the ear|Underdeveloped crus of the ear	http://purl.obolibrary.org/obo/HP_0009898							hposlim_core
HP:0009899	biolink:PhenotypicFeature	Prominent crus of helix	The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.	UMLS:C4021377	hp.json	Abnormal prominence of the crus of the ear|Helix, crus, prominent|Hyperplastic helix crus|Hypertrophic helix crus	http://purl.obolibrary.org/obo/HP_0009899							hposlim_core
HP:0009900	biolink:PhenotypicFeature	Unilateral deafness	A unilateral absence of sensory perception of sound.	MSH:D046088|SNOMEDCT_US:162342008|UMLS:C2607947	hp.json	Deafness in one ear|Deafness, unilateral	http://purl.obolibrary.org/obo/HP_0009900							
HP:0009901	biolink:PhenotypicFeature	Crumpled ear	Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.	UMLS:C4024166	hp.json	Crumpled ear	http://purl.obolibrary.org/obo/HP_0009901							hposlim_core
HP:0009902	biolink:PhenotypicFeature	Cleft helix	A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.	UMLS:C4021376	hp.json	Notched helix|Notching of the ear helix	http://purl.obolibrary.org/obo/HP_0009902							hposlim_core
HP:0009903	biolink:PhenotypicFeature	Conjunctival nodule	Presence of nodules in the conjunctiva of the eye.	SNOMEDCT_US:428477002|UMLS:C1996949	hp.json		http://purl.obolibrary.org/obo/HP_0009903							hposlim_core
HP:0009904	biolink:PhenotypicFeature	Prominent ear helix	Abnormally prominent ear helix.	UMLS:C4020776|UMLS:C4024165	hp.json	Large helix	http://purl.obolibrary.org/obo/HP_0009904							
HP:0009905	biolink:PhenotypicFeature	Thin ear helix	Decreased thickness of the helix of the ear.	UMLS:C4024164	hp.json		http://purl.obolibrary.org/obo/HP_0009905							hposlim_core
HP:0009906	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the earlobes	Absence or underdevelopment of the ear lobes.	UMLS:C1851792	hp.json	Absent/small ear lobes|Absent/underdeveloped ear lobes	http://purl.obolibrary.org/obo/HP_0009906							
HP:0009907	biolink:PhenotypicFeature	Attached earlobe	Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.	UMLS:C4021375	hp.json	Attached earlobe|Adherent earlobe	http://purl.obolibrary.org/obo/HP_0009907							hposlim_core
HP:0009908	biolink:PhenotypicFeature	Anterior creases of earlobe	Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.	UMLS:C1851897	hp.json	Earlobe crease|Transverse earlobe creases	http://purl.obolibrary.org/obo/HP_0009908							hposlim_core
HP:0009909	biolink:PhenotypicFeature	Uplifted earlobe	An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.	UMLS:C1856117	hp.json	Lobe, uplifted|Uplifted earlobe|Upturned earlobe|Uplifted earlobes|Upturned earlobes|Fleshy upturned lobules	http://purl.obolibrary.org/obo/HP_0009909							hposlim_core
HP:0009910	biolink:PhenotypicFeature	Aplasia of the middle ear ossicles	Absence of the middle ear ossicles, malleus, incus, and stapes.	UMLS:C4021374	hp.json	Absent middle ear bones|Absent middle ear ossicles	http://purl.obolibrary.org/obo/HP_0009910							
HP:0009911	biolink:PhenotypicFeature	Abnormal temporal bone morphology	Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.	UMLS:C4024163	hp.json	Abnormality of the temporal bone	http://purl.obolibrary.org/obo/HP_0009911							hposlim_core
HP:0009912	biolink:PhenotypicFeature	Abnormality of the tragus	An abnormality of the tragus.	UMLS:C4024162	hp.json		http://purl.obolibrary.org/obo/HP_0009912							
HP:0009913	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the tragus	Aplasia or developmental hypoplasia of the tragus.	UMLS:C4024161	hp.json	Absent/small tragus|Absent/underdeveloped tragus	http://purl.obolibrary.org/obo/HP_0009913							
HP:0009914	biolink:PhenotypicFeature	Cyclopia	Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.	MSH:C562573|SNOMEDCT_US:205798005|UMLS:C0266667	hp.json	Cyclops eye|Single central eye	http://purl.obolibrary.org/obo/HP_0009914							hposlim_core
HP:0009915	biolink:PhenotypicFeature	Corneal asymmetry	The presence of a size difference between the left and right cornea.	UMLS:C4021373	hp.json	Asymmetry of the corneas	http://purl.obolibrary.org/obo/HP_0009915							hposlim_core
HP:0009916	biolink:PhenotypicFeature	Anisocoria	Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.	MSH:D015875|SNOMEDCT_US:13045009|UMLS:C0003079	hp.json	Asymmetric pupil sizes|Asymmetry of the pupils|Unequal pupil size|Unequal pupil dilatation	http://purl.obolibrary.org/obo/HP_0009916							hposlim_core
HP:0009917	biolink:PhenotypicFeature	Persistent pupillary membrane	The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.	SNOMEDCT_US:95500008|UMLS:C0344541	hp.json		http://purl.obolibrary.org/obo/HP_0009917							
HP:0009918	biolink:PhenotypicFeature	Ectopia pupillae	A malposition of the pupil owing to a developmental defect of the iris.	MSH:C536185|SNOMEDCT_US:193523008|SNOMEDCT_US:392461003|UMLS:C1271219	hp.json	Displaced pupil|Corectopia	http://purl.obolibrary.org/obo/HP_0009918							hposlim_core
HP:0009919	biolink:PhenotypicFeature	Retinoblastoma	A tumor of the eye originating from cells of the retina.	MSH:D012175|MSH:D019572|NCIT:C7541|SNOMEDCT_US:127002001|SNOMEDCT_US:19906005|SNOMEDCT_US:370967009|UMLS:C0035335|UMLS:C0524801	hp.json	Retina tumor|Retina tumour	http://purl.obolibrary.org/obo/HP_0009919							
HP:0009920	biolink:PhenotypicFeature	Nevus of Ota	A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.	MSH:D009507|SNOMEDCT_US:254817005|SNOMEDCT_US:414929001|UMLS:C0027961	hp.json	Naevus fuscoceruleus ophthalmomaxillaris|Congenital melanosis bulbi|Nevus fuscoceruleus ophthalmomaxillaris|Oculodermal melanocytosis	http://purl.obolibrary.org/obo/HP_0009920							
HP:0009921	biolink:PhenotypicFeature	Duane anomaly	A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction	MSH:D004370|SNOMEDCT_US:60318001|UMLS:C0013261|UMLS:C1846464|UMLS:C4072873	hp.json	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							hposlim_core
HP:0009922	biolink:PhenotypicFeature	Vascular remnant arising from the disc	Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.	UMLS:C4024160	hp.json	Persistence of the hyaloid artery|Persistent hyaloid artery	http://purl.obolibrary.org/obo/HP_0009922							
HP:0009924	biolink:PhenotypicFeature	Aplasia/Hypoplasia involving the nose	Underdevelopment or absence of the nose or parts thereof.	SNOMEDCT_US:204519007|SNOMEDCT_US:93278002|UMLS:C0685684|UMLS:C4024159|UMLS:C4280392	hp.json	Decreased nasal size|Decreased size of nose|Hypoplasia of the nose|Hypotrophic nose	http://purl.obolibrary.org/obo/HP_0009924							
HP:0009926	biolink:PhenotypicFeature	Epiphora	Abnormally increased lacrimation, that is, excessive tearing (watering eye).	MSH:D007766|SNOMEDCT_US:193982009|SNOMEDCT_US:418035005|UMLS:C0152227	hp.json	Increased tears|Tearing|Watery eyes|Increased lacrimation	http://purl.obolibrary.org/obo/HP_0009926							hposlim_core
HP:0009927	biolink:PhenotypicFeature	Aplasia of the nose	Complete absence of all nasal structures.	MSH:C537438|SNOMEDCT_US:111317000|UMLS:C0265740|UMLS:C4280391	hp.json	Absent nose|Failure of development of nose|Nasal underdevelopment|Underdevelopment of nose|Missing nose|Arrhinia	http://purl.obolibrary.org/obo/HP_0009927							hposlim_core
HP:0009928	biolink:PhenotypicFeature	Thick nasal alae	Increase in bulk of the ala nasi.	UMLS:C1844809	hp.json	Ala nasi, thick|Thickening of the alae nasi	http://purl.obolibrary.org/obo/HP_0009928							hposlim_core
HP:0009929	biolink:PhenotypicFeature	Abnormality of the columella	An abnormality of the columella.	UMLS:C4024158	hp.json	Anomaly of the columella|Deformity of the columella|Malformation of the columella	http://purl.obolibrary.org/obo/HP_0009929							
HP:0009930	biolink:PhenotypicFeature	Asymmetry of the nares	Asymmetry or size difference between the left and right nostril.	UMLS:C4024157	hp.json	Asymmetry of nostrils|Crooked nostrils|Unequal nostril shape|Unequal nostril size|Uneven nostril shape|Uneven nostril size	http://purl.obolibrary.org/obo/HP_0009930							hposlim_core
HP:0009931	biolink:PhenotypicFeature	Enlarged naris	Increased aperture of the nostril.	SNOMEDCT_US:399353008|UMLS:C0426440	hp.json	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							hposlim_core
HP:0009932	biolink:PhenotypicFeature	Single naris	The presence of only a single nostril.	SNOMEDCT_US:95266003|UMLS:C0685682	hp.json	Mono nostril|One nostril|Single nostril|Single nare	http://purl.obolibrary.org/obo/HP_0009932							hposlim_core
HP:0009933	biolink:PhenotypicFeature	Narrow naris	Slender, slit-like aperture of the nostril.	SNOMEDCT_US:249336003|SNOMEDCT_US:249339005|UMLS:C0426436|UMLS:C0426439|UMLS:C1849366|UMLS:C4280390	hp.json	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							hposlim_core
HP:0009934	biolink:PhenotypicFeature	Supernumerary naris	The presence of more than two nostrils.	UMLS:C4021372	hp.json	Extra nostril|Accessory nares|Accessory nostril|Supernumerary nares|Supernumerary nostrils	http://purl.obolibrary.org/obo/HP_0009934							hposlim_core
HP:0009935	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the nasal septum	Absence or underdevelopment of the nasal septum.	UMLS:C4024156	hp.json	Underdevelopment of nasal septum|Failure of development of nasal septum|Ageneis of nasal septum	http://purl.obolibrary.org/obo/HP_0009935							
HP:0009936	biolink:PhenotypicFeature	Narrow nasal septum	Abnormally narrow nasal septum.	UMLS:C4024155	hp.json	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							hposlim_core
HP:0009937	biolink:PhenotypicFeature	Facial hirsutism	Excess facial hair.	UMLS:C1850041|UMLS:C2128203	hp.json	Excessive face hair	http://purl.obolibrary.org/obo/HP_0009937							
HP:0009938	biolink:PhenotypicFeature	Sunken cheeks	Lack or loss of the soft tissues between the zygomata and mandible.	UMLS:C4024154	hp.json	Depressed cheeks|Hollow cheeks|Sunken cheeks	http://purl.obolibrary.org/obo/HP_0009938							hposlim_core
HP:0009939	biolink:PhenotypicFeature	Mandibular aplasia	Absence of the mandible.	SNOMEDCT_US:91896009|SNOMEDCT_US:91922000|UMLS:C0685775|UMLS:C0685776|UMLS:C4021371	hp.json	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							
HP:0009940	biolink:PhenotypicFeature	Asymmetry of the mandible	Lack of symmetry between the left and right mandible.	SNOMEDCT_US:235082006|UMLS:C0399518|UMLS:C4082201	hp.json	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							hposlim_core
HP:0009941	biolink:PhenotypicFeature	Asymmetry of the mouth	The presence of an asymmetric mouth.	UMLS:C4024153	hp.json	Asymmetry of the mouth|Crooked mouth|Tilted mouth|Uneven mouth|Canted mouth|Asymmetry of oral cavity	http://purl.obolibrary.org/obo/HP_0009941							hposlim_core
HP:0009942	biolink:PhenotypicFeature	Duplication of thumb phalanx	Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4021370	hp.json	Complete/partial duplication of phalanges of the thumb|Duplicated thumbs|Duplication of phalanx of thumb|Duplicated thumb	http://purl.obolibrary.org/obo/HP_0009942							
HP:0009943	biolink:PhenotypicFeature	Complete duplication of thumb phalanx	A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C3554724	hp.json	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							
HP:0009944	biolink:PhenotypicFeature	Partial duplication of thumb phalanx	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4082168	hp.json	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							
HP:0009945	biolink:PhenotypicFeature	Duplication of phalanx of 2nd finger	This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021369	hp.json	Duplication of the bones of index finger|Partial/complete duplication of phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009945							
HP:0009946	biolink:PhenotypicFeature	Polydactyly affecting the 2nd finger		UMLS:C4024152	hp.json	Extra index finger	http://purl.obolibrary.org/obo/HP_0009946							
HP:0009947	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 2nd finger	Partial or complete duplication of the second proximal phalanx of hand.	UMLS:C4021368	hp.json	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							
HP:0009948	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 2nd finger	Partial or complete duplication of the distal phalanx of index finger.	UMLS:C4021367	hp.json	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							
HP:0009949	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 2nd finger	Partial or complete duplication of the middle phalanx of index finger.	UMLS:C4021366	hp.json	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							
HP:0009950	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 2nd finger	Complete duplication of the distal phalanx of index finger.	UMLS:C4024151	hp.json	Complete duplication of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009950							
HP:0009951	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 2nd finger	Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4021365	hp.json	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							
HP:0009952	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 2nd finger	Complete duplication of the middle phalanx of index finger.	UMLS:C4024150	hp.json	Complete duplication of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009952							
HP:0009953	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 2nd finger	Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024149	hp.json	Partial duplication of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009953							
HP:0009954	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 2nd finger	Complete duplication of the second proximal phalanx of hand.	UMLS:C4024148	hp.json	Complete duplication of the proximal bone of the index finger	http://purl.obolibrary.org/obo/HP_0009954							
HP:0009955	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 2nd finger	Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024147	hp.json	Partial duplication of the proximal bones of the index finger	http://purl.obolibrary.org/obo/HP_0009955							
HP:0009956	biolink:PhenotypicFeature	Partial duplication of the phalanges of the 2nd finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024146	hp.json	Partial duplication of the bones of the index finger	http://purl.obolibrary.org/obo/HP_0009956							
HP:0009957	biolink:PhenotypicFeature	Complete duplication of the phalanges of the 2nd finger	A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C4024145	hp.json	Complete duplication of the bones of the index finger	http://purl.obolibrary.org/obo/HP_0009957							
HP:0009958	biolink:PhenotypicFeature	Polydactyly affecting the 3rd finger		UMLS:C4024144	hp.json	Extra middle finger	http://purl.obolibrary.org/obo/HP_0009958							
HP:0009959	biolink:PhenotypicFeature	Duplication of phalanx of 3rd finger	This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021364	hp.json	Duplication of middle finger bone|Partial/complete duplication of phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009959							
HP:0009960	biolink:PhenotypicFeature	Complete duplication of the phalanges of the 3rd finger	A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C4024143	hp.json	Complete duplication of middle finger bones	http://purl.obolibrary.org/obo/HP_0009960							
HP:0009961	biolink:PhenotypicFeature	Partial duplication of the phalanges of the 3rd finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024142	hp.json	Partial duplication of middle finger bones	http://purl.obolibrary.org/obo/HP_0009961							
HP:0009962	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 3rd finger	Partial or complete duplication of the distal phalanx of middle finger.	UMLS:C4021363	hp.json	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							
HP:0009963	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 3rd finger	Partial or complete duplication of the middle phalanx of middle finger.	UMLS:C4021362	hp.json	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							
HP:0009964	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 3rd finger	Partial or complete duplication of the third proximal phalanx of hand.	UMLS:C4021361	hp.json	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							
HP:0009965	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 3rd finger	Complete duplication of the distal phalanx of middle finger	UMLS:C4024141	hp.json	Complete duplication of the outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009965							
HP:0009966	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 3rd finger	Complete duplication of the middle phalanx of middle finger.	UMLS:C4024140	hp.json	Complete duplication of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009966							
HP:0009967	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 3rd finger	Complete duplication of the third proximal phalanx of hand.	UMLS:C4024139	hp.json	Complete duplication of the innermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009967							
HP:0009968	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 3rd finger	Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4021360	hp.json	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							
HP:0009969	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 3rd finger	Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024138	hp.json	Partial duplication of the middle bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009969							
HP:0009970	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 3rd finger	Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024137	hp.json	Partial duplication of the proximal bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009970							
HP:0009971	biolink:PhenotypicFeature	Polydactyly affecting the 4th finger		UMLS:C4024136	hp.json	Extra ring finger	http://purl.obolibrary.org/obo/HP_0009971							
HP:0009972	biolink:PhenotypicFeature	Duplication of phalanx of 4th finger	This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021359	hp.json	Duplication of bones of the ring finger|Partial/complete duplication of phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009972							
HP:0009973	biolink:PhenotypicFeature	Complete duplication of the phalanges of the 4th finger	A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C4024135	hp.json	Complete duplication of the bones of the ring finger	http://purl.obolibrary.org/obo/HP_0009973							
HP:0009974	biolink:PhenotypicFeature	Partial duplication of the phalanges of the 4th finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024134	hp.json	Partial duplication of the bones of the ring finger	http://purl.obolibrary.org/obo/HP_0009974							
HP:0009975	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 4th finger	Partial or complete duplication of the distal phalanx of ring finger.	UMLS:C4021358	hp.json	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							
HP:0009976	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 4th finger	Partial or complete duplication of the middle phalanx of ring finger.	UMLS:C4021357	hp.json	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							
HP:0009977	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 4th finger	Partial or complete duplication of the fourth proximal phalanx of hand.	UMLS:C4021356	hp.json	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							
HP:0009978	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 4th finger	Complete duplication of the distal phalanx of ring finger.	UMLS:C4024133	hp.json	Complete duplication of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009978							
HP:0009979	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 4th finger	Complete duplication of the middle phalanx of ring finger.	UMLS:C4024132	hp.json	Complete duplication of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009979							
HP:0009980	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 4th finger	Complete duplication of the fourth proximal phalanx of hand.	UMLS:C4024131	hp.json	Complete duplication of the proximal bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009980							
HP:0009981	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 4th finger	Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4021355	hp.json	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							
HP:0009982	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 4th finger	Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024130	hp.json	Partial duplication of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009982							
HP:0009983	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 4th finger	Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024129	hp.json	Partial duplication of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009983							
HP:0009985	biolink:PhenotypicFeature	Duplication of phalanx of 5th finger	This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021354	hp.json	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							
HP:0009986	biolink:PhenotypicFeature	Complete duplication of the phalanges of the 5th finger	A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C4024128	hp.json	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							
HP:0009987	biolink:PhenotypicFeature	Partial duplication of the phalanges of the 5th finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024127	hp.json	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							
HP:0009988	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 5th finger	Partial or complete duplication of the distal phalanx of little finger.	UMLS:C4021353	hp.json	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							
HP:0009989	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 5th finger	Partial or complete duplication of the fifth middle phalanx of hand.	UMLS:C4021352	hp.json	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							
HP:0009990	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 5th finger	Partial or complete duplication of the fifth proximal phalanx of hand.	UMLS:C4021351	hp.json	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							
HP:0009991	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 5th finger	Complete duplication of the distal phalanx of little finger.	UMLS:C4024126	hp.json	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							
HP:0009992	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 5th finger	Complete duplication of the fifth middle phalanx of hand.	UMLS:C4024125	hp.json	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							
HP:0009993	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 5th finger	Complete duplication of the fifth proximal phalanx of hand.	UMLS:C4024124	hp.json	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							
HP:0009994	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 5th finger	Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4021350	hp.json	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							
HP:0009995	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 5th finger	Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024123	hp.json	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							
HP:0009996	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 5th finger	Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.	UMLS:C4024122	hp.json	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							
HP:0009997	biolink:PhenotypicFeature	Duplication of phalanx of hand	This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021349	hp.json	Duplication of finger bones	http://purl.obolibrary.org/obo/HP_0009997							
HP:0009998	biolink:PhenotypicFeature	Complete duplication of phalanx of hand	A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C4024121	hp.json	Complete duplication of hand bones	http://purl.obolibrary.org/obo/HP_0009998							
HP:0009999	biolink:PhenotypicFeature	Partial duplication of the phalanx of hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024120	hp.json	Partial duplication of hand bones	http://purl.obolibrary.org/obo/HP_0009999							
HP:0010000	biolink:PhenotypicFeature	Complete duplication of the proximal phalanges of the hand	A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	UMLS:C4024119	hp.json	Complete duplication of the innermost bones of the hand	http://purl.obolibrary.org/obo/HP_0010000							
HP:0010001	biolink:PhenotypicFeature	Complete duplication of the distal phalanges of the hand	A complete duplication affecting one or more of the distal phalanges of the hand.	UMLS:C4024118	hp.json	Complete duplication of the outermost bones of the hand	http://purl.obolibrary.org/obo/HP_0010001							
HP:0010002	biolink:PhenotypicFeature	Complete duplication of the middle phalanges of the hand	A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.	UMLS:C4024117	hp.json	Complete duplication of the middle bones of the hand	http://purl.obolibrary.org/obo/HP_0010002							
HP:0010003	biolink:PhenotypicFeature	Partial duplication of the proximal phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024116	hp.json	Partial duplication of the innermost bones of the hand	http://purl.obolibrary.org/obo/HP_0010003							
HP:0010004	biolink:PhenotypicFeature	Partial duplication of the distal phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4021348	hp.json	Partial duplication of the outermost bone of the hand|Bifid terminal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010004							
HP:0010005	biolink:PhenotypicFeature	Partial duplication of the middle phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	UMLS:C4024115	hp.json	Partial duplication of the middle bones of hand	http://purl.obolibrary.org/obo/HP_0010005							
HP:0010006	biolink:PhenotypicFeature	Duplication of the proximal phalanx of hand	This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021347	hp.json	Duplication of the innermost bones of hand|Partial/complete duplication of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010006							
HP:0010008	biolink:PhenotypicFeature	Duplication of the middle phalanx of hand	This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	UMLS:C4021346	hp.json	Duplication of the middle bones of hand|Partial/complete duplication of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010008							
HP:0010009	biolink:PhenotypicFeature	Abnormality of the 1st metacarpal	A structural anomaly of the first metacarpal.	UMLS:C4024114	hp.json	Abnormality of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010009							
HP:0010010	biolink:PhenotypicFeature	Abnormality of the 2nd metacarpal	Any abnormality of the second metacarpal bone.	UMLS:C4024113	hp.json	Abnormality of the 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010010							
HP:0010011	biolink:PhenotypicFeature	Abnormality of the 3rd metacarpal	Any abnormality of the third metacarpal bone.	UMLS:C4024112	hp.json	Abnormality of the 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010011							
HP:0010012	biolink:PhenotypicFeature	Abnormality of the 4th metacarpal	Any abnormality of the fourth metacarpal bone.	UMLS:C4024111	hp.json	Abnormality of the 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010012							
HP:0010013	biolink:PhenotypicFeature	Abnormality of the 5th metacarpal	Any abnormality of the fifth metacarpal bone.	UMLS:C4024110	hp.json	Abnormality of the 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0010013							
HP:0010014	biolink:PhenotypicFeature	Abnormality of the epiphysis of the 1st metacarpal	In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.	UMLS:C4024109	hp.json	Abnormality of the end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010014							
HP:0010015	biolink:PhenotypicFeature	Absent epiphysis of the 1st metacarpal		UMLS:C4024108	hp.json	Absent end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010015							
HP:0010016	biolink:PhenotypicFeature	Bracket epiphysis of the 1st metacarpal	An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.	UMLS:C4024107	hp.json	Bracket shaped end part of 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010016							
HP:0010017	biolink:PhenotypicFeature	Cone-shaped epiphysis of the 1st metacarpal	A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.	UMLS:C4024106	hp.json	Cone-shaped end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010017							
HP:0010018	biolink:PhenotypicFeature	Enlarged epiphysis of the 1st metacarpal	Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.	UMLS:C4024105	hp.json	Enlarged end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010018							
HP:0010019	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the 1st metacarpal	Epiphysis of the 1st metacarpal having multiple bony fragments.	UMLS:C4024104	hp.json	Fragmentation of the end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010019							
HP:0010020	biolink:PhenotypicFeature	Irregular epiphysis of the 1st metacarpal	Uneven radiographic opacity of the epiphysis of the 1st metacarpal.	UMLS:C4024103	hp.json	Irregular end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010020							
HP:0010021	biolink:PhenotypicFeature	Ivory epiphysis of the 1st metacarpal	The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4024102	hp.json	Increased bone density of end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010021							
HP:0010022	biolink:PhenotypicFeature	Pseudoepiphysis of the 1st metacarpal	The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.	UMLS:C4024101	hp.json		http://purl.obolibrary.org/obo/HP_0010022							
HP:0010023	biolink:PhenotypicFeature	Small epiphysis of the 1st metacarpal	Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.	UMLS:C4024100	hp.json	Small end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010023							
HP:0010024	biolink:PhenotypicFeature	Epiphyseal stippling of the first metacarpal	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.	UMLS:C4021345	hp.json	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							
HP:0010025	biolink:PhenotypicFeature	Triangular epiphysis of the 1st metacarpal		UMLS:C4024099	hp.json	Triangular end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010025							
HP:0010026	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 1st metacarpal	Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).	UMLS:C4024098	hp.json	Absent/small 1st long bone of hand|Absent/underdeveloped 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010026							
HP:0010027	biolink:PhenotypicFeature	Broad 1st metacarpal	Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	UMLS:C4024097	hp.json	Wide 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010027							
HP:0010028	biolink:PhenotypicFeature	Bullet-shaped 1st metacarpal	The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").	UMLS:C4024096	hp.json	Bullet-shaped 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010028							
HP:0010029	biolink:PhenotypicFeature	Curved 1st metacarpal	A deviation from the normal straight shape of the first metacarpal.	UMLS:C4024095	hp.json	Curved 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010029							
HP:0010030	biolink:PhenotypicFeature	Osteolytic defects of the 1st metacarpal	Dissolution or degeneration of bone tissue of the 1st metacarpal.	UMLS:C4024094	hp.json		http://purl.obolibrary.org/obo/HP_0010030							
HP:0010031	biolink:PhenotypicFeature	Patchy sclerosis of the 1st metacarpal	Uneven increase in bone density within the 1st metacarpal.	UMLS:C4024093	hp.json	Uneven increase in bone density in 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010031							
HP:0010033	biolink:PhenotypicFeature	Triangular shaped 1st metacarpal	This term applies to a triangular shaped 1st metacarpal.	UMLS:C4024092	hp.json	Triangular shaped 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010033							
HP:0010034	biolink:PhenotypicFeature	Short 1st metacarpal	A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.	UMLS:C1849311	hp.json	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							hposlim_core
HP:0010035	biolink:PhenotypicFeature	Aplasia of the 1st metacarpal	Absent first metacarpal (long bone) of the hand.	UMLS:C1838610	hp.json	Absent 1st long bone of hand|Absent first metacarpal	http://purl.obolibrary.org/obo/HP_0010035							
HP:0010036	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 2nd metacarpal	Aplasia or Hypoplasia affecting the 2nd metacarpal.	UMLS:C4024091	hp.json	Absent/small 2nd long bone of hand|Absent/underdeveloped 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010036							
HP:0010037	biolink:PhenotypicFeature	Aplasia of the 2nd metacarpal	Absence of the second long bone of the hand.	UMLS:C4024090	hp.json	Absent 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010037							
HP:0010038	biolink:PhenotypicFeature	Short 2nd metacarpal	Short second metacarpal bone because of developmental hypoplasia.	UMLS:C1969397|UMLS:C4020774	hp.json	Shortened 2nd long bone of hand|Rudimentary 2nd metacarpal|Hypoplastic 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010038							
HP:0010039	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 3rd metacarpal	Aplasia or Hypoplasia affecting the 3rd metacarpal.	UMLS:C4024089	hp.json	Absent/small 3rd long bone of hand|Absent/underdeveloped 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010039							
HP:0010040	biolink:PhenotypicFeature	Aplasia of the 3rd metacarpal	Absence of the third long bone of the hand.	UMLS:C4024088	hp.json	Absent 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010040							
HP:0010041	biolink:PhenotypicFeature	Short 3rd metacarpal	Short third metacarpal bone.	UMLS:C1850631	hp.json	Shortened 3rd long bone of hand|Hypoplastic 3rd metacarpal|Short third metacarpals|Small 3rd metacarpals	http://purl.obolibrary.org/obo/HP_0010041							
HP:0010042	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 4th metacarpal	Aplasia or Hypoplasia affecting the 4th metacarpal.	UMLS:C4024087	hp.json	Absent/small 4th long bone of hand|Absent/underdeveloped 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010042							
HP:0010043	biolink:PhenotypicFeature	Aplasia of the 4th metacarpal	Absence of the fourth long bone of the hand.	UMLS:C4024086	hp.json	Absent 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010043							
HP:0010044	biolink:PhenotypicFeature	Short 4th metacarpal	Short fourth metacarpal bone.	UMLS:C1840309	hp.json	Shortened 4th long bone of hand|Hypoplastic fourth metacarpal|Short 4th metacarpals|Short fourth metacarpals	http://purl.obolibrary.org/obo/HP_0010044							
HP:0010045	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 5th metacarpal	Aplasia or Hypoplasia affecting the 5th metacarpal.	UMLS:C4024085	hp.json	Absent/small 5th long bone of hand|Absent/underdeveloped 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0010045							
HP:0010046	biolink:PhenotypicFeature	Aplasia of the 5th metacarpal	Absence of the fifth long bone of the hand.	UMLS:C1867929	hp.json	Absent 5th long bone of hand|Absent 5th metacarpal	http://purl.obolibrary.org/obo/HP_0010046							
HP:0010047	biolink:PhenotypicFeature	Short 5th metacarpal	Short fifth metacarpal bone.	UMLS:C1861388	hp.json	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							
HP:0010048	biolink:PhenotypicFeature	Aplasia of metacarpal bones	Developmental defect associated with absence of one or more metacarpal bones.	UMLS:C1846473	hp.json	Absent long bone of hand|Absent metacarpal|Absent metacarpals	http://purl.obolibrary.org/obo/HP_0010048							hposlim_core
HP:0010049	biolink:PhenotypicFeature	Short metacarpal	Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.	UMLS:C1837084	hp.json	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							hposlim_core
HP:0010051	biolink:PhenotypicFeature	Deviation of the hallux	Displacement of the big toe from its normal position.	UMLS:C4021344	hp.json	Displacement of big toe|Displacement of the hallux	http://purl.obolibrary.org/obo/HP_0010051							
HP:0010052	biolink:PhenotypicFeature	Abnormal morphology of the proximal phalanx of the hallux	An abnormal shape or form of the proximal phalanx of the big toe.	UMLS:C4024084	hp.json	Abnormal innermost big toe bone|Abnormality of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010052							
HP:0010053	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the hallux		UMLS:C4024083	hp.json	Abnormality of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010053							
HP:0010054	biolink:PhenotypicFeature	Abnormality of the first metatarsal bone	An anomaly of the first metatarsal bone.	UMLS:C4024082	hp.json	Abnormality of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010054							
HP:0010055	biolink:PhenotypicFeature	Broad hallux	Visible increase in width of the hallux without an increase in the dorso-ventral dimension.	UMLS:C1867131	hp.json	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							hposlim_core
HP:0010056	biolink:PhenotypicFeature	Abnormality of the epiphyses of the hallux		UMLS:C4024081	hp.json	Abnormality of the end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010056							
HP:0010057	biolink:PhenotypicFeature	Abnormality of the phalanges of the hallux		UMLS:C4024080	hp.json	Abnormal big toe bones	http://purl.obolibrary.org/obo/HP_0010057							
HP:0010058	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the hallux		UMLS:C4024079	hp.json	Absent/small big toe bone|Absent/underdeveloped big toe bone	http://purl.obolibrary.org/obo/HP_0010058							
HP:0010059	biolink:PhenotypicFeature	Broad hallux phalanx	An increase in width in one or more phalanges of the big toe.	UMLS:C4021343	hp.json	Broad bone of big toe|Wide bone of big toe|Broad phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010059							
HP:0010060	biolink:PhenotypicFeature	Bullet-shaped hallux phalanx	An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021342	hp.json	Bullet-shaped bone of big toe|Bullet-shaped phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010060							
HP:0010061	biolink:PhenotypicFeature	Curved hallux phalanx	A deviation from the normal straight form of one or more phalanges of the big toe.	UMLS:C4021341	hp.json	Curve bones of big toe|Curved phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010061							
HP:0010062	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the hallux		UMLS:C4024078	hp.json		http://purl.obolibrary.org/obo/HP_0010062							
HP:0010063	biolink:PhenotypicFeature	Patchy sclerosis of hallux phalanx	Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021340	hp.json	Uneven increase in bone density in big toe bone|Patchy sclerosis of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010063							
HP:0010064	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the hallux		UMLS:C1836216	hp.json	Fused big toe bones|hallucal symphalangism	http://purl.obolibrary.org/obo/HP_0010064							
HP:0010065	biolink:PhenotypicFeature	Triangular shaped phalanges of the hallux		UMLS:C4024077	hp.json	Triangular shaped bones of big toe	http://purl.obolibrary.org/obo/HP_0010065							
HP:0010066	biolink:PhenotypicFeature	Duplication of phalanx of hallux	Partial or complete duplication of one or more phalanx of big toe.	UMLS:C1860164|UMLS:C4020691	hp.json	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							
HP:0010067	biolink:PhenotypicFeature	Aplasia/hypoplasia of the 1st metatarsal	Absence or underdevelopment of the first metatarsal bone.	UMLS:C4024076	hp.json	Absent/small 1st long bone of foot|Absent/underdeveloped 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010067							
HP:0010068	biolink:PhenotypicFeature	Broad first metatarsal	Increased side-to-side width of the first metatarsal bone.	UMLS:C1855899	hp.json	Wide 1st long bone of foot|Broad 1st metatarsal|Enlarged first metatarsal	http://purl.obolibrary.org/obo/HP_0010068							
HP:0010069	biolink:PhenotypicFeature	Bullet-shaped 1st metatarsal	An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.	UMLS:C4024075	hp.json	Bullet-shaped 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010069							
HP:0010070	biolink:PhenotypicFeature	Curved 1st metatarsal	A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.	UMLS:C4024074	hp.json	Curved 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010070							
HP:0010071	biolink:PhenotypicFeature	Osteolytic defects of the 1st metatarsal	Dissolution or degeneration of bone tissue of the first metatarsal.	UMLS:C4024073	hp.json		http://purl.obolibrary.org/obo/HP_0010071							
HP:0010072	biolink:PhenotypicFeature	Patchy sclerosis of the 1st metatarsal		UMLS:C4024072	hp.json	Uneven increase in bone density of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010072							
HP:0010073	biolink:PhenotypicFeature	Synostosis involving the 1st metatarsal		UMLS:C4024071	hp.json	Fusion involving the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010073							
HP:0010074	biolink:PhenotypicFeature	Triangular shaped 1st metatarsal		UMLS:C4024070	hp.json	Triangular shaped 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010074							
HP:0010075	biolink:PhenotypicFeature	Duplication of the 1st metatarsal	A developmental defect consisting in the duplication of the first metatarsal bone.	UMLS:C1851855	hp.json	Duplicated 1st long bone of foot|Duplicated first metatarsals	http://purl.obolibrary.org/obo/HP_0010075							
HP:0010076	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the hallux		UMLS:C4024069	hp.json	Absent/small outermost big toe bone|Absent/underdeveloped outermost big toe bone	http://purl.obolibrary.org/obo/HP_0010076							
HP:0010077	biolink:PhenotypicFeature	Broad distal phalanx of the hallux	An increase in width of the distal phalanx of the big toe.	UMLS:C4024068	hp.json	Broad outermost bone of big toe|Wide outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010077							
HP:0010078	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the hallux	An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024067	hp.json	Bullet-shaped outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010078							
HP:0010079	biolink:PhenotypicFeature	Curved distal phalanx of the hallux	A deviation from the normal straight form of the distal phalanx of the big toe.	UMLS:C4024066	hp.json	Curved outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010079							
HP:0010080	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the hallux		UMLS:C4024065	hp.json		http://purl.obolibrary.org/obo/HP_0010080							
HP:0010081	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the hallux		UMLS:C4024064	hp.json	Uneven increase in bone density in the outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010081							
HP:0010082	biolink:PhenotypicFeature	Symphalangism affecting the distal phalanx of the hallux		UMLS:C4024063	hp.json	Fused outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010082							
HP:0010083	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the hallux		UMLS:C4024062	hp.json	Triangular shaped outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010083							
HP:0010084	biolink:PhenotypicFeature	Duplication of the distal phalanx of the hallux		UMLS:C4021339	hp.json	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	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the proximal phalanx of the hallux		UMLS:C4024061	hp.json	Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone	http://purl.obolibrary.org/obo/HP_0010085							
HP:0010086	biolink:PhenotypicFeature	Broad proximal phalanx of the hallux	Increased width of proximal phalanx of big toe.	UMLS:C4021338	hp.json	Broad innermost bone of the big toe|Broad proximal phalanx of the big toe	http://purl.obolibrary.org/obo/HP_0010086							
HP:0010087	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the hallux	An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4024060	hp.json	Bullet-shaped innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010087							
HP:0010088	biolink:PhenotypicFeature	Curved proximal phalanx of the hallux	A deviation from the normal straight form of the proximal phalanx of the big toe.	UMLS:C4024059	hp.json	Curved innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010088							
HP:0010089	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the hallux		UMLS:C4024058	hp.json		http://purl.obolibrary.org/obo/HP_0010089							
HP:0010090	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the hallux		UMLS:C4024057	hp.json	Uneven increase in bone density in the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010090							
HP:0010091	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the hallux		UMLS:C4024056	hp.json	Fused innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010091							
HP:0010092	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the hallux		UMLS:C4024055	hp.json	Triangular shaped innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010092							
HP:0010093	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the hallux	Partial or complete duplication of the proximal phalanx of big toe.	UMLS:C4024054	hp.json	Duplication of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010093							
HP:0010094	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the hallux	Complete duplication of the proximal phalanx of big toe.	UMLS:C4024053	hp.json	Complete duplication of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010094							
HP:0010095	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the hallux	Partial duplication of the proximal phalanx of big toe.	UMLS:C4024052	hp.json	Partial duplication of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010095							
HP:0010096	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the hallux		UMLS:C4024051	hp.json	Complete duplication of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010096							
HP:0010097	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the hallux		UMLS:C4021337	hp.json	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	biolink:PhenotypicFeature	Complete duplication of the 1st metatarsal	A developmental defect consisting in the complete duplication of the first metatarsal bone.	UMLS:C4024050	hp.json	Complete duplication of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010098							
HP:0010099	biolink:PhenotypicFeature	Partial duplication of the 1st metatarsal	A developmental defect consisting in the duplication of part of the first metatarsal bone.	UMLS:C4024049	hp.json	Partial duplication of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010099							
HP:0010100	biolink:PhenotypicFeature	Complete duplication of hallux phalanx	Complete duplication of one or more phalanx of big toe.	UMLS:C4021336	hp.json	Complete duplication of big toe bones|Complete duplication of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010100							
HP:0010101	biolink:PhenotypicFeature	Partial duplication of the phalanges of the hallux		UMLS:C1855005	hp.json	Partial duplication of big toe|partial duplication of hallux	http://purl.obolibrary.org/obo/HP_0010101							
HP:0010102	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the hallux		UMLS:C4024048	hp.json	Absent outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010102							
HP:0010103	biolink:PhenotypicFeature	Short distal phalanx of hallux	Underdevelopment (hypoplasia) of the distal phalanx of big toe.	UMLS:C4021335	hp.json	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							
HP:0010104	biolink:PhenotypicFeature	Absent first metatarsal	A developmental defect characterized by the absence of the first metatarsal bone.	UMLS:C1863382	hp.json	Absent 1st long bone of foot|Absent 1st metatarsal|Aplasia of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010104							
HP:0010105	biolink:PhenotypicFeature	Short first metatarsal	Short first metatarsal bone.	UMLS:C1841688	hp.json	Short 1st long bone of foot|First metatarsal hypoplasia|First metatarsals hypoplastic	http://purl.obolibrary.org/obo/HP_0010105							
HP:0010106	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the hallux		UMLS:C4024047	hp.json	Absent innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010106							
HP:0010107	biolink:PhenotypicFeature	Short proximal phalanx of hallux	Underdevelopment (hypoplasia) of the proximal phalanx of big toe.	UMLS:C1862159	hp.json	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							
HP:0010109	biolink:PhenotypicFeature	Short hallux	Underdevelopment (hypoplasia) of the big toe.	UMLS:C1865992	hp.json	Short big toe|Hypoplastic big toes|Hypoplastic hallux|Short halluces|Small hallux	http://purl.obolibrary.org/obo/HP_0010109							
HP:0010110	biolink:PhenotypicFeature	Aplasia of the phalanges of the hallux		UMLS:C4024046	hp.json	Absent bone of big toe	http://purl.obolibrary.org/obo/HP_0010110							
HP:0010111	biolink:PhenotypicFeature	Short phalanx of hallux	Underdevelopment (hypoplasia) of a phalanx of big toe.	UMLS:C4021334	hp.json	Hypoplastic phalanges of the hallux|Short bone of big toe	http://purl.obolibrary.org/obo/HP_0010111							
HP:0010112	biolink:PhenotypicFeature	Mesoaxial foot polydactyly	The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.	UMLS:C4021333	hp.json	Central polydactyly of feet	http://purl.obolibrary.org/obo/HP_0010112							hposlim_core
HP:0010113	biolink:PhenotypicFeature	Absent hallux epiphysis	Failure to form (agenesis) of one or more epiphyses of the big toe.	UMLS:C4020906	hp.json	Absent end part of big toe bone|Absent epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010113							
HP:0010114	biolink:PhenotypicFeature	Bracket epiphyses of the hallux		UMLS:C4024045	hp.json	Bracket shaped end part of big toe bone	http://purl.obolibrary.org/obo/HP_0010114							
HP:0010115	biolink:PhenotypicFeature	Cone-shaped epiphyses of the hallux		UMLS:C4024044	hp.json	Cone-shaped end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010115							
HP:0010116	biolink:PhenotypicFeature	Enlarged epiphyses of the hallux		UMLS:C4024043	hp.json	Enlarged end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010116							
HP:0010117	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the hallux		UMLS:C4024042	hp.json	Fragmentation of the end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010117							
HP:0010118	biolink:PhenotypicFeature	Irregular epiphyses of the hallux		UMLS:C4024041	hp.json	Irregular end part of big toe bone	http://purl.obolibrary.org/obo/HP_0010118							
HP:0010119	biolink:PhenotypicFeature	Ivory epiphyses of the hallux		UMLS:C4024040	hp.json	Increased bone density of end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010119							
HP:0010120	biolink:PhenotypicFeature	Pseudoepiphyses of the hallux		UMLS:C4024039	hp.json		http://purl.obolibrary.org/obo/HP_0010120							
HP:0010121	biolink:PhenotypicFeature	Small epiphyses of the hallux		UMLS:C4024038	hp.json	Small end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010121							
HP:0010122	biolink:PhenotypicFeature	Stippling of the epiphyses of the hallux	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.	UMLS:C4024037	hp.json	Speckled calcifications in the end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010122							
HP:0010123	biolink:PhenotypicFeature	Triangular epiphyses of the hallux		UMLS:C4024036	hp.json	Triangular end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010123							
HP:0010124	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the hallux		UMLS:C4024035	hp.json	Abnormality of the end part of the outermost bone of the big toe bone	http://purl.obolibrary.org/obo/HP_0010124							
HP:0010125	biolink:PhenotypicFeature	Abnormality of the epiphysis of the 1st metatarsal	In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.	UMLS:C4024034	hp.json	Abnormality of the end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010125							
HP:0010126	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the hallux	In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.	UMLS:C4024033	hp.json	Abnormality of the end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010126							
HP:0010127	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the hallux	Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.	UMLS:C4024032	hp.json	Absent end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010127							
HP:0010128	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the hallux	The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.	UMLS:C4024031	hp.json	Bracket shaped end part of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010128							
HP:0010129	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the hallux		UMLS:C4024030	hp.json	Cone-shaped end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010129							
HP:0010130	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the hallux		UMLS:C4024029	hp.json	Enlarged end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010130							
HP:0010131	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the hallux		UMLS:C4024028	hp.json	Fragmentation of the end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010131							
HP:0010132	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the hallux		UMLS:C4024027	hp.json	Irregular end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010132							
HP:0010133	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the hallux		UMLS:C4024026	hp.json	Increased bone density of end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010133							
HP:0010134	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the hallux		UMLS:C4024025	hp.json		http://purl.obolibrary.org/obo/HP_0010134							
HP:0010135	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the hallux		UMLS:C4024024	hp.json	Small end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010135							
HP:0010136	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the hallux	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.	UMLS:C4024023	hp.json	Speckled calcifications in the end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010136							
HP:0010137	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the hallux		UMLS:C4024022	hp.json	Triangular end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010137							
HP:0010138	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the hallux	Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.	UMLS:C4024021	hp.json	Absent end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010138							
HP:0010139	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the hallux	The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.	UMLS:C4024020	hp.json	Bracket shaped end part of the outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010139							
HP:0010140	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the hallux		UMLS:C4024019	hp.json	Cone-shaped end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010140							
HP:0010141	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the hallux		UMLS:C4024018	hp.json	Enlarged end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010141							
HP:0010142	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the hallux		UMLS:C4024017	hp.json	Fragmentation of the end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010142							
HP:0010143	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the hallux		UMLS:C4024016	hp.json	Irregular end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010143							
HP:0010144	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the hallux		UMLS:C4024015	hp.json	Increased bone density of end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010144							
HP:0010145	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the hallux		UMLS:C4024014	hp.json		http://purl.obolibrary.org/obo/HP_0010145							
HP:0010146	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the hallux		UMLS:C4024013	hp.json	Small end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010146							
HP:0010147	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the hallux	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.	UMLS:C4024012	hp.json	Speckled calcifications in the end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010147							
HP:0010148	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the hallux		UMLS:C4024011	hp.json	Triangular end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010148							
HP:0010149	biolink:PhenotypicFeature	Absent epiphysis of the 1st metatarsal	Failure to form (agenesis) of the epiphysis of the 1st metatarsal.	UMLS:C4024010	hp.json	Absent end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010149							
HP:0010150	biolink:PhenotypicFeature	Bracket epiphysis of the 1st metatarsal	The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.	UMLS:C4024009	hp.json	Bracket shaped end part of 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010150							
HP:0010151	biolink:PhenotypicFeature	Cone-shaped epiphysis of the 1st metatarsal	A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.	UMLS:C4024008	hp.json	Cone-shaped end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010151							
HP:0010152	biolink:PhenotypicFeature	Enlarged epiphysis of the 1st metatarsal		UMLS:C4024007	hp.json	Enlarged end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010152							
HP:0010153	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the 1st metatarsal		UMLS:C4024006	hp.json	Fragmentation of the end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010153							
HP:0010154	biolink:PhenotypicFeature	Irregular epiphysis of the 1st metatarsal		UMLS:C4024005	hp.json	Irregular end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010154							
HP:0010155	biolink:PhenotypicFeature	Ivory epiphysis of the 1st metatarsal	The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4024004	hp.json	Increased bone density of end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010155							
HP:0010156	biolink:PhenotypicFeature	Pseudoepiphysis of the 1st metatarsal		UMLS:C4024003	hp.json		http://purl.obolibrary.org/obo/HP_0010156							
HP:0010157	biolink:PhenotypicFeature	Small epiphysis of the 1st metatarsal		UMLS:C4024002	hp.json	Small end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010157							
HP:0010158	biolink:PhenotypicFeature	Stippling of the epiphysis of the 1st metatarsal		UMLS:C4024001	hp.json	Speckled calcifications in the end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010158							
HP:0010159	biolink:PhenotypicFeature	Triangular epiphysis of the 1st metatarsal		UMLS:C4024000	hp.json	Triangular end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010159							
HP:0010160	biolink:PhenotypicFeature	Abnormality of the epiphyses of the toes		UMLS:C4023999	hp.json	Abnormality of the end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010160							
HP:0010161	biolink:PhenotypicFeature	Abnormality of the phalanges of the toes		UMLS:C4023998	hp.json	Abnormality of the long bones of the toes	http://purl.obolibrary.org/obo/HP_0010161							
HP:0010162	biolink:PhenotypicFeature	Absent epiphyses of the toes	Absence of the epiphyses of the phalanges of the toes.	UMLS:C4023997	hp.json	Absent end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010162							
HP:0010163	biolink:PhenotypicFeature	Bracket epiphyses of the toes		UMLS:C4023996	hp.json	Bracket shaped end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010163							
HP:0010164	biolink:PhenotypicFeature	Cone-shaped epiphyses of the toes		UMLS:C4023995	hp.json	Cone-shaped end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010164							
HP:0010165	biolink:PhenotypicFeature	Enlarged epiphyses of the toes		UMLS:C4023994	hp.json	Enlarged end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010165							
HP:0010166	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the toes		UMLS:C4023993	hp.json	Fragmentation of the end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010166							
HP:0010167	biolink:PhenotypicFeature	Irregular epiphyses of the toes		UMLS:C4023992	hp.json	Irregular end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010167							
HP:0010168	biolink:PhenotypicFeature	Ivory epiphyses of the toes		UMLS:C4023991	hp.json	Increased bone density of end part of the toes	http://purl.obolibrary.org/obo/HP_0010168							
HP:0010169	biolink:PhenotypicFeature	Pseudoepiphyses of the toes		UMLS:C4023990	hp.json		http://purl.obolibrary.org/obo/HP_0010169							
HP:0010170	biolink:PhenotypicFeature	Small epiphyses of the toes		UMLS:C4023989	hp.json	Small end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010170							
HP:0010171	biolink:PhenotypicFeature	Epiphyseal stippling of toe phalanges	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.	UMLS:C4021332	hp.json	Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010171							
HP:0010172	biolink:PhenotypicFeature	Triangular epiphyses of the toes		UMLS:C4023988	hp.json	Triangular end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010172							
HP:0010173	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the toes		UMLS:C4023987	hp.json	Absent/small toe bones|Absent/underdeveloped toe bones	http://purl.obolibrary.org/obo/HP_0010173							
HP:0010174	biolink:PhenotypicFeature	Broad phalanx of the toes	Increased width of phalanx of one or more toes.	UMLS:C4023986	hp.json	Wide toe bones	http://purl.obolibrary.org/obo/HP_0010174							
HP:0010175	biolink:PhenotypicFeature	Bullet-shaped toe phalanx	An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021331	hp.json	Bullet-shaped phalanges of the toes|Bullet-shaped toe bone	http://purl.obolibrary.org/obo/HP_0010175							
HP:0010176	biolink:PhenotypicFeature	Curved toe phalanx	A deviation from the normal straight form of one or more toe phalanges.	UMLS:C4021330	hp.json	Curved toe bone|Curved phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010176							
HP:0010177	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the toes		UMLS:C4023985	hp.json		http://purl.obolibrary.org/obo/HP_0010177							
HP:0010178	biolink:PhenotypicFeature	Patchy sclerosis of toe phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.	UMLS:C4021329	hp.json	Uneven increase in bone density in toe bone|Patchy sclerosis of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010178							
HP:0010179	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the toes		UMLS:C4023984	hp.json	Fused toe bones	http://purl.obolibrary.org/obo/HP_0010179							
HP:0010180	biolink:PhenotypicFeature	Triangular shaped phalanges of the toes		UMLS:C4023983	hp.json	Triangular shaped toe bones	http://purl.obolibrary.org/obo/HP_0010180							
HP:0010181	biolink:PhenotypicFeature	Duplication of phalanx of toe	Partial/complete duplication of one or more phalanx of toe.	UMLS:C4021328	hp.json	Duplicated toe bone|Partial/complete duplication of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010181							
HP:0010182	biolink:PhenotypicFeature	Abnormality of the distal phalanges of the toes		UMLS:C4023982	hp.json	Abnormality of the outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0010182							
HP:0010183	biolink:PhenotypicFeature	Abnormality of the middle phalanges of the toes		UMLS:C4023981	hp.json	Abnormal middle bones of toe	http://purl.obolibrary.org/obo/HP_0010183							
HP:0010184	biolink:PhenotypicFeature	Abnormality of toe proximal phalanx	A morphological anomaly of one or more proximal phalanges of one or more toes.	UMLS:C4021327	hp.json	Abnormal innermost toe bone|Abnormality of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010184							
HP:0010185	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanges of the toes	Absence or underdevelopment of the distal phalanges of the toes.	UMLS:C4020773|UMLS:C4021326	hp.json	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							
HP:0010186	biolink:PhenotypicFeature	Broad distal phalanx of the toes	Increased width of the distal phalanx of toe of one or more toes.	UMLS:C4023980	hp.json	Broad outermost bone of the toe|Wide outermost bone of the toe	http://purl.obolibrary.org/obo/HP_0010186							
HP:0010187	biolink:PhenotypicFeature	Bullet-shaped distal toe phalanx	An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021325	hp.json	Bullet-shaped outermost bone of the toe|Bullet-shaped distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010187							
HP:0010188	biolink:PhenotypicFeature	Curved distal toe phalanx	A deviation from the normal straight form of one or more distal toe phalanges.	UMLS:C4021324	hp.json	Curved outermost bone of the toe|Curved distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010188							
HP:0010189	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanges of the toes		UMLS:C4023979	hp.json		http://purl.obolibrary.org/obo/HP_0010189							
HP:0010190	biolink:PhenotypicFeature	Patchy sclerosis of distal toe phalanx	Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021323	hp.json	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							
HP:0010191	biolink:PhenotypicFeature	Symphalangism affecting the distal phalanges of the toes		UMLS:C4023978	hp.json	Fused outermost bones of toes	http://purl.obolibrary.org/obo/HP_0010191							
HP:0010192	biolink:PhenotypicFeature	Triangular shaped distal phalanges of the toes		UMLS:C4023977	hp.json	Triangular shaped outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0010192							
HP:0010193	biolink:PhenotypicFeature	Duplication of distal phalanx of toe	A partial or complete duplication of one or more distal phalanx of toe.	UMLS:C4021322	hp.json	Duplication of outermost bone of toe|Partial/complete duplication of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010193							
HP:0010194	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanges of the toes		UMLS:C4023976	hp.json	Absent/small middle bones of toe|Absent/underdeveloped middle bones of toe	http://purl.obolibrary.org/obo/HP_0010194							
HP:0010195	biolink:PhenotypicFeature	Broad middle phalanges of the toes		UMLS:C4023975	hp.json	Broad middle bones of the toes	http://purl.obolibrary.org/obo/HP_0010195							
HP:0010196	biolink:PhenotypicFeature	Bullet-shaped middle toe phalanx	An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021321	hp.json	Bullet-shaped middle bones of the toes|Bullet-shaped middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010196							
HP:0010197	biolink:PhenotypicFeature	Curved middle toe phalanx	A deviation from the normal straight form of one or more middle toe phalanges.	UMLS:C4021320	hp.json	Curved middle bones of the toes|Curved middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010197							
HP:0010198	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanges of the toes		UMLS:C4023974	hp.json		http://purl.obolibrary.org/obo/HP_0010198							
HP:0010199	biolink:PhenotypicFeature	Patchy sclerosis of middle toe phalanx	Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021319	hp.json	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							
HP:0010200	biolink:PhenotypicFeature	Symphalangism affecting the middle phalanges of the toes		UMLS:C4023973	hp.json	Fused middle bones of toes	http://purl.obolibrary.org/obo/HP_0010200							
HP:0010201	biolink:PhenotypicFeature	Triangular shaped middle phalanges of the toes		UMLS:C4023972	hp.json	Triangular shaped middle bones of toes	http://purl.obolibrary.org/obo/HP_0010201							
HP:0010202	biolink:PhenotypicFeature	Duplication of middle phalanx of toe	Partial or complete duplication of a middle phalanx of toe.	UMLS:C4021318	hp.json	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							
HP:0010203	biolink:PhenotypicFeature	Aplasia/hypoplasia of proximal toe phalanx	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes.	UMLS:C4021317	hp.json	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							
HP:0010204	biolink:PhenotypicFeature	Broad proximal phalanx of toe	An increase in width of one ore more proximal toe phalanges.	UMLS:C4023971	hp.json	Broad innermost toe bone	http://purl.obolibrary.org/obo/HP_0010204							
HP:0010205	biolink:PhenotypicFeature	Bullet-shaped proximal toe phalanx	An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021316	hp.json	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							
HP:0010206	biolink:PhenotypicFeature	Curved proximal toe phalanx	A deviation from the normal straight shape of a proximal phalanx of one or more toes.	UMLS:C4021315	hp.json	Curved innermost toe bones|Curved proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010206							
HP:0010207	biolink:PhenotypicFeature	Osteolytic defect of the proximal toe phalanx	Dissolution or degeneration of bone tissue of the proximal toe phalanx.	UMLS:C4021314	hp.json	Osteolytic defects of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010207							
HP:0010208	biolink:PhenotypicFeature	Patchy sclerosis of proximal toe phalanx	Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021313	hp.json	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							
HP:0010209	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanges of the toes		UMLS:C4023970	hp.json	Fused innermost bones of toes	http://purl.obolibrary.org/obo/HP_0010209							
HP:0010210	biolink:PhenotypicFeature	Triangular shaped proximal phalanges of the toes		UMLS:C4023969	hp.json	Triangular shaped innermost toe bones	http://purl.obolibrary.org/obo/HP_0010210							
HP:0010211	biolink:PhenotypicFeature	Duplication of proximal phalanx of toe	Partial/complete duplication of a proximal phalanx of toe.	UMLS:C4021312	hp.json	Duplication of innermost toe bones|Partial/complete duplication of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010211							
HP:0010212	biolink:PhenotypicFeature	Flexion contracture of the hallux	One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.	UMLS:C4021311	hp.json	Joint contracture of the big toe|Joint contracture of the hallux	http://purl.obolibrary.org/obo/HP_0010212							
HP:0010213	biolink:PhenotypicFeature	Contracture of the tarsometatarsal joint of the hallux	Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.	UMLS:C4023968	hp.json		http://purl.obolibrary.org/obo/HP_0010213							
HP:0010214	biolink:PhenotypicFeature	Contracture of the interphalangeal joint of the hallux	The interphalangeal joint of the big toe cannot be straightened actively or passively.	UMLS:C4023967	hp.json		http://purl.obolibrary.org/obo/HP_0010214							
HP:0010215	biolink:PhenotypicFeature	Contractures of the metatarsophalangeal joint of the hallux	The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.	UMLS:C4023966	hp.json		http://purl.obolibrary.org/obo/HP_0010215							
HP:0010219	biolink:PhenotypicFeature	Structural foot deformity	A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.	UMLS:C4023965	hp.json		http://purl.obolibrary.org/obo/HP_0010219							
HP:0010220	biolink:PhenotypicFeature	Abnormality of the epiphysis of the 2nd metacarpal	Any abnormality of the epiphysis of the second metacarpal bone.	UMLS:C4023964	hp.json	Abnormality of the end part of the 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010220							
HP:0010221	biolink:PhenotypicFeature	obsolete Pseudoepiphysis of the 2nd metacarpal			hp.json		http://purl.obolibrary.org/obo/HP_0010221							
HP:0010222	biolink:PhenotypicFeature	Abnormality of the epiphysis of the 3rd metacarpal	Any abnormality of the epiphysis of the third metacarpal bone.	UMLS:C4023962	hp.json	Abnormality of the end part of the 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010222							
HP:0010223	biolink:PhenotypicFeature	Pseudoepiphysis of the 3rd metacarpal	The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.	UMLS:C4023961	hp.json		http://purl.obolibrary.org/obo/HP_0010223							
HP:0010224	biolink:PhenotypicFeature	Abnormality of the epiphysis of the 4th metacarpal	Any abnormality of the epiphysis of the 4th metacarpal bone.	UMLS:C4023960	hp.json	Abnormality of the end part of the 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010224							
HP:0010225	biolink:PhenotypicFeature	Pseudoepiphysis of the 4th metacarpal	The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.	UMLS:C4023959	hp.json		http://purl.obolibrary.org/obo/HP_0010225							
HP:0010226	biolink:PhenotypicFeature	Abnormality of the epiphysis of the 5th metacarpal	Any abnormality of the epiphysis of the fifth metacarpal bone.	UMLS:C4023958	hp.json	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							
HP:0010227	biolink:PhenotypicFeature	Pseudoepiphysis of the 5th metacarpal	The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.	UMLS:C4023957	hp.json		http://purl.obolibrary.org/obo/HP_0010227							
HP:0010228	biolink:PhenotypicFeature	Absent epiphyses of the phalanges of the hand	Absence of one or more epiphyses of the phalanges of the fingers.	UMLS:C4021310	hp.json	Absent end part of fingers|Absent epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010228							
HP:0010229	biolink:PhenotypicFeature	Bracket epiphyses of the phalanges of the hand	Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4021309	hp.json	Bracket shaped end part of finger bones|Bracket epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010229							
HP:0010230	biolink:PhenotypicFeature	Cone-shaped epiphyses of the phalanges of the hand	A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	UMLS:C1859480	hp.json	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							
HP:0010231	biolink:PhenotypicFeature	Enlarged epiphyses of the phalanges of the hand	Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.	UMLS:C1865036	hp.json	Enlarged end part of finger bones|Enlarged epiphyses of the fingers|Enlarged phalangeal epiphyses	http://purl.obolibrary.org/obo/HP_0010231							
HP:0010232	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the phalanges of the hand	Fragmented appearance of the epiphyses of the phalanges of the fingers.	UMLS:C4021308	hp.json	Fragmentation of end part of finger bones|Fragmentation of the epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010232							
HP:0010233	biolink:PhenotypicFeature	Irregular epiphyses of the phalanges of the hand	Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.	UMLS:C4021307	hp.json	Irregular end part of finger bones|Irregular epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010233							
HP:0010234	biolink:PhenotypicFeature	Ivory epiphyses of the phalanges of the hand	Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C1857651	hp.json	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							
HP:0010235	biolink:PhenotypicFeature	Pseudoepiphyses of the phalanges of the hand	A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4021306	hp.json	Pseudoepiphysis of the fingers	http://purl.obolibrary.org/obo/HP_0010235							
HP:0010236	biolink:PhenotypicFeature	Small epiphyses of the phalanges of the hand	Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.	UMLS:C4021305	hp.json	Small end part of finger bones|Small epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010236							
HP:0010237	biolink:PhenotypicFeature	Epiphyseal stippling of finger phalanges	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.	UMLS:C4021304	hp.json	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							
HP:0010238	biolink:PhenotypicFeature	Triangular epiphyses of the phalanges of the hand	A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.	UMLS:C4021303	hp.json	Triangular end part of finger bones|Delta-shaped epiphyses of the fingers|Triangular epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010238							
HP:0010239	biolink:PhenotypicFeature	Aplasia of the middle phalanx of the hand	Absence of one or more middle phalanx of a finger.	UMLS:C1862096	hp.json	Absent middle bones of hand|Absent middle phalanges|Missing middle phalanges	http://purl.obolibrary.org/obo/HP_0010239							
HP:0010241	biolink:PhenotypicFeature	Short proximal phalanx of finger	Congenital hypoplasia of one or more proximal phalanx of finger.	UMLS:C1860606	hp.json	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							
HP:0010242	biolink:PhenotypicFeature	Aplasia of the proximal phalanges of the hand		UMLS:C4021302	hp.json	Absent innermost bones|Absent proximal phalanges	http://purl.obolibrary.org/obo/HP_0010242							
HP:0010243	biolink:PhenotypicFeature	Abnormality of the epiphyses of the distal phalanx of finger	Any anomaly of distal epiphysis of phalanx of finger.	UMLS:C4023956	hp.json	Abnormality of the end part of the outermost bone of finger	http://purl.obolibrary.org/obo/HP_0010243							
HP:0010244	biolink:PhenotypicFeature	Abnormality of the epiphyses of the middle phalanges of the hand		UMLS:C4023955	hp.json	Abnormality of the end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010244							
HP:0010245	biolink:PhenotypicFeature	Abnormality of the epiphyses of the proximal phalanges of the hand		UMLS:C4023954	hp.json	Abnormality of the end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010245							
HP:0010246	biolink:PhenotypicFeature	Absent epiphyses of the distal phalanges of the hand		UMLS:C4023953	hp.json	Absent end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010246							
HP:0010247	biolink:PhenotypicFeature	Bracket epiphyses of the distal phalanges of the hand	An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4023952	hp.json	Bracket shaped end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010247							
HP:0010248	biolink:PhenotypicFeature	Cone-shaped epiphyses of the distal phalanges of the hand		UMLS:C4023951	hp.json	Cone-shaped end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010248							
HP:0010249	biolink:PhenotypicFeature	Enlarged epiphyses of the distal phalanges of the hand		UMLS:C4023950	hp.json	Enlarged end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010249							
HP:0010250	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the distal phalanges of the hand		UMLS:C4023949	hp.json	Fragmentation of the end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010250							
HP:0010251	biolink:PhenotypicFeature	Irregular epiphyses of the distal phalanges of the hand		UMLS:C4023948	hp.json	Irregular end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010251							
HP:0010252	biolink:PhenotypicFeature	Ivory epiphyses of the distal phalanges of the hand	Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4021301	hp.json	Increased bone density of end part of the outermost hand bones|Eburnated epiphyses of distal phalanges	http://purl.obolibrary.org/obo/HP_0010252							
HP:0010253	biolink:PhenotypicFeature	Pseudoepiphyses of the distal phalanges of the hand	A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4023947	hp.json		http://purl.obolibrary.org/obo/HP_0010253							
HP:0010254	biolink:PhenotypicFeature	Small epiphyses of the distal phalanges of the hand		UMLS:C4023946	hp.json	Small end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010254							
HP:0010255	biolink:PhenotypicFeature	Stippling of the epiphyses of the distal phalanges of the hand		UMLS:C4023945	hp.json	Speckled calcifications in the end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010255							
HP:0010256	biolink:PhenotypicFeature	Triangular epiphyses of the distal phalanges of the hand		UMLS:C4023944	hp.json	Triangular end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010256							
HP:0010257	biolink:PhenotypicFeature	Absent epiphyses of the middle phalanges of the hand		UMLS:C4023943	hp.json	Absent end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010257							
HP:0010258	biolink:PhenotypicFeature	Bracket epiphyses of the middle phalanges of the hand	An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4023942	hp.json	Bracket shaped end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010258							
HP:0010259	biolink:PhenotypicFeature	Cone-shaped epiphyses of the middle phalanges of the hand		UMLS:C1860828	hp.json	Cone-shaped end part of the middle hand bones|Cone-shaped epiphyses of middle phalanges	http://purl.obolibrary.org/obo/HP_0010259							
HP:0010260	biolink:PhenotypicFeature	Enlarged epiphyses of the middle phalanges of the hand		UMLS:C4023941	hp.json	Enlarged end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010260							
HP:0010261	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the middle phalanges of the hand	Fragmented appearance of the epiphyses of the middle phalanges of the hand.	UMLS:C4023940	hp.json	Fragmentation of the end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010261							
HP:0010262	biolink:PhenotypicFeature	Irregular epiphyses of the middle phalanges of the hand		UMLS:C4023939	hp.json	Irregular end part of middle hand bones	http://purl.obolibrary.org/obo/HP_0010262							
HP:0010263	biolink:PhenotypicFeature	Ivory epiphyses of the middle phalanges of the hand	Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4023938	hp.json	Increased bone density of end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010263							
HP:0010264	biolink:PhenotypicFeature	Pseudoepiphyses of the middle phalanges of the hand	A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4023937	hp.json		http://purl.obolibrary.org/obo/HP_0010264							
HP:0010265	biolink:PhenotypicFeature	Small epiphyses of the middle phalanges of the hand		UMLS:C4023936	hp.json	Small end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010265							
HP:0010266	biolink:PhenotypicFeature	Stippling of the epiphyses of the middle phalanges of the hand		UMLS:C4023935	hp.json	Speckled calcifications in the end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010266							
HP:0010267	biolink:PhenotypicFeature	Triangular epiphyses of the middle phalanges of the hand		UMLS:C4023934	hp.json	Triangular end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010267							
HP:0010268	biolink:PhenotypicFeature	Absent epiphyses of the proximal phalanges of the hand		UMLS:C4023933	hp.json	Absent end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010268							
HP:0010269	biolink:PhenotypicFeature	Bracket epiphyses of the proximal phalanges of the hand	An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.	UMLS:C4023932	hp.json	Bracket shaped end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010269							
HP:0010270	biolink:PhenotypicFeature	Cone-shaped epiphyses of the proximal phalanges of the hand		UMLS:C4023931	hp.json	Cone-shaped end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010270							
HP:0010271	biolink:PhenotypicFeature	Enlarged epiphyses of the proximal phalanges of the hand		UMLS:C4023930	hp.json	Enlarged end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010271							
HP:0010272	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the proximal phalanges of the hand		UMLS:C4023929	hp.json	Fragmentation of the end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010272							
HP:0010273	biolink:PhenotypicFeature	Irregular epiphyses of the proximal phalanges of the hand		UMLS:C4023928	hp.json	Irregular end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010273							
HP:0010274	biolink:PhenotypicFeature	Ivory epiphyses of the proximal phalanges of the hand	Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4023927	hp.json	Increased bone density of end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010274							
HP:0010275	biolink:PhenotypicFeature	Pseudoepiphyses of the proximal phalanges of the hand	A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	UMLS:C4023926	hp.json		http://purl.obolibrary.org/obo/HP_0010275							
HP:0010276	biolink:PhenotypicFeature	Small epiphyses of the proximal phalanges of the hand		UMLS:C4023925	hp.json	Small end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010276							
HP:0010277	biolink:PhenotypicFeature	Stippling of the epiphyses of the proximal phalanges of the hand		UMLS:C4023924	hp.json	Speckled calcifications in the end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010277							
HP:0010278	biolink:PhenotypicFeature	Triangular epiphyses of the proximal phalanges of the hand		UMLS:C4023923	hp.json	Triangular end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010278							
HP:0010280	biolink:PhenotypicFeature	Stomatitis	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.	MSH:D013280|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000|UMLS:C0038362|UMLS:C0149704	hp.json	Inflammation of the mouth|Gingivostomatitis	http://purl.obolibrary.org/obo/HP_0010280							hposlim_core
HP:0010281	biolink:PhenotypicFeature	Cleft lower lip	A gap in the lower lip.	UMLS:C1856026	hp.json	Cleft lower lip|Cleft of the lower lip|Lower labial cleft	http://purl.obolibrary.org/obo/HP_0010281							hposlim_core
HP:0010282	biolink:PhenotypicFeature	Thin lower lip vermilion	Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).	UMLS:C2053440	hp.json	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							
HP:0010284	biolink:PhenotypicFeature	Intra-oral hyperpigmentation	Increased pigmentation, either focal or generalized, of the mucosa of the mouth.	SNOMEDCT_US:235038002|UMLS:C0399483|UMLS:C0877541|UMLS:C4280387|UMLS:C4280388|UMLS:C4280389	hp.json	Dark color of gums|Pigmented gums|Dark colour of gums|Hyperpigmentation of oral mucosa|Oral mucosa melanin pigmentation|Oral racial pigmentation|Gingival hyperpigmentation|Gingival melanin pigmentation	http://purl.obolibrary.org/obo/HP_0010284							hposlim_core
HP:0010285	biolink:PhenotypicFeature	Oral synechia	Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.	UMLS:C4023921	hp.json	Oral fibrous bands|Synechiae of the mouth	http://purl.obolibrary.org/obo/HP_0010285							hposlim_core
HP:0010286	biolink:PhenotypicFeature	Abnormal salivary gland morphology	Any abnormality of the salivary glands, the exocrine glands that produce saliva.	MSH:D012466|SNOMEDCT_US:10890000|UMLS:C0036093|UMLS:C0149772	hp.json	Abnormality of the salivary glands|Salivary gland disease	http://purl.obolibrary.org/obo/HP_0010286							hposlim_core
HP:0010287	biolink:PhenotypicFeature	Abnormality of the submandibular glands	Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.	UMLS:C4023920	hp.json	Abnormality of the submaxillary glands	http://purl.obolibrary.org/obo/HP_0010287							
HP:0010288	biolink:PhenotypicFeature	Abnormality of the sublingual glands	Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.	UMLS:C4023919	hp.json		http://purl.obolibrary.org/obo/HP_0010288							
HP:0010289	biolink:PhenotypicFeature	Cleft of alveolar ridge of maxilla	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.	SNOMEDCT_US:445306000|UMLS:C1398533|UMLS:C2919907|UMLS:C4280386	hp.json	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							hposlim_core
HP:0010290	biolink:PhenotypicFeature	Short hard palate	Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).	UMLS:C1398301|UMLS:C4020772|UMLS:C4023918	hp.json	Decreased length of hard palate|Hypoplastic palate|Short palate	http://purl.obolibrary.org/obo/HP_0010290							
HP:0010291	biolink:PhenotypicFeature	Prominent palatine ridges	Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.	UMLS:C4021300	hp.json	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							hposlim_core
HP:0010292	biolink:PhenotypicFeature	Absent uvula	Lack of the uvula.	SNOMEDCT_US:25148007|UMLS:C0266121	hp.json	Absent palatine uvula|Congenital absence of uvula|Missing uvula|Uvula aplasia|Agenesis of uvula	http://purl.obolibrary.org/obo/HP_0010292							hposlim_core
HP:0010293	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the uvula	Underdevelopment or absence of the uvula.	UMLS:C4023917	hp.json	Aplasia/hypoplasia of palatine uvula	http://purl.obolibrary.org/obo/HP_0010293							
HP:0010294	biolink:PhenotypicFeature	Palate fistula	A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.	UMLS:C2032780|UMLS:C4280385	hp.json	Hole in roof of mouth|Palatal hole|Palatal perforation	http://purl.obolibrary.org/obo/HP_0010294							
HP:0010295	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the tongue	Absence or underdevelopment of the tongue.	UMLS:C4023916|UMLS:C4280384	hp.json	Lingual aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0010295							
HP:0010296	biolink:PhenotypicFeature	Ankyloglossia	Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.	MSH:D000072676|SNOMEDCT_US:67787004|UMLS:C0152415	hp.json	Tongue tied|Tongue tie	http://purl.obolibrary.org/obo/HP_0010296							
HP:0010297	biolink:PhenotypicFeature	Bifid tongue	Tongue with a median apical indentation or fork.	SNOMEDCT_US:84557007|UMLS:C0266111|UMLS:C4255098	hp.json	Cleft tongue|Forked tongue|Split tongue|Snake tongue|Bifurcated tongue|Bilobed tongue	http://purl.obolibrary.org/obo/HP_0010297							hposlim_core
HP:0010298	biolink:PhenotypicFeature	Smooth tongue	Glossy appearance of the entire tongue surface.	SNOMEDCT_US:9491003|UMLS:C0155964|UMLS:C4280381|UMLS:C4280382|UMLS:C4280383	hp.json	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							hposlim_core
HP:0010299	biolink:PhenotypicFeature	Abnormal dentin morphology	Any abnormality of dentin.	UMLS:C4021299	hp.json	Abnormal dentin|Abnormality of dentin|Abnormality of dentine|Dentin anomaly	http://purl.obolibrary.org/obo/HP_0010299							hposlim_core
HP:0010300	biolink:PhenotypicFeature	Abnormally low-pitched voice	An abnormally low-pitched voice.	UMLS:C4023915	hp.json		http://purl.obolibrary.org/obo/HP_0010300							
HP:0010301	biolink:PhenotypicFeature	Spinal dysraphism	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.	MSH:D009436|SNOMEDCT_US:253098009|UMLS:C0027794	hp.json	Incomplete closure of the vertebral arch	http://purl.obolibrary.org/obo/HP_0010301							
HP:0010302	biolink:PhenotypicFeature	Spinal cord tumor	A neoplasm affecting the spinal cord.	MSH:D013120|NCIT:C3262|SNOMEDCT_US:126962006|UMLS:C0037930	hp.json	Spinal cord tumor|Tumor of the spinal cord|Spinal cord tumour|Tumour of the spinal cord|Spinal tumor|Spinal tumors|Spinal tumour|Spinal tumours	http://purl.obolibrary.org/obo/HP_0010302							
HP:0010303	biolink:PhenotypicFeature	Abnormal spinal meningeal morphology	Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.	UMLS:C4023914	hp.json	Abnormality of the spinal meninges	http://purl.obolibrary.org/obo/HP_0010303							
HP:0010304	biolink:PhenotypicFeature	Spinal meningeal diverticulum	An outpouching of the spinal meninges.	UMLS:C4023913	hp.json		http://purl.obolibrary.org/obo/HP_0010304							
HP:0010305	biolink:PhenotypicFeature	Absence of the sacrum	Absence (aplasia) of the sacrum.	MSH:C537221|SNOMEDCT_US:205425003|UMLS:C0344490	hp.json	Sacrococcygeal agenesis|Absent sacrum|Sacral agenesis	http://purl.obolibrary.org/obo/HP_0010305							hposlim_core
HP:0010306	biolink:PhenotypicFeature	Short thorax	Reduced inferior to superior extent of the thorax.	SNOMEDCT_US:249670005|UMLS:C0426789	hp.json	Shorter than typical length between neck and abdomen	http://purl.obolibrary.org/obo/HP_0010306							
HP:0010307	biolink:PhenotypicFeature	Stridor	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.	MSH:D012135|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|UMLS:C0237304	hp.json	Noisy breathing	http://purl.obolibrary.org/obo/HP_0010307							
HP:0010308	biolink:PhenotypicFeature	Asternia	The congenital absence of the sternum.	UMLS:C4023912	hp.json	Aplasia of the sternum|Breast bone aplasia	http://purl.obolibrary.org/obo/HP_0010308							
HP:0010309	biolink:PhenotypicFeature	Bifid sternum	The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.	SNOMEDCT_US:54008006|UMLS:C0265696	hp.json	Sternal cleft	http://purl.obolibrary.org/obo/HP_0010309							hposlim_core
HP:0010310	biolink:PhenotypicFeature	Chylothorax	Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.	MSH:D002916|SNOMEDCT_US:83035003|UMLS:C0008733	hp.json		http://purl.obolibrary.org/obo/HP_0010310							
HP:0010311	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the breasts	Absence or underdevelopment of the breasts.	UMLS:C4023911	hp.json	Absent/small breasts|Absent/underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0010311							
HP:0010312	biolink:PhenotypicFeature	Asymmetry of the breasts	The presence of asymmetrical breasts.	MSH:C565299|UMLS:C1854013	hp.json		http://purl.obolibrary.org/obo/HP_0010312							hposlim_core
HP:0010313	biolink:PhenotypicFeature	Breast hypertrophy	The presence of hypertrophy of the breast.	MSH:C536821|SNOMEDCT_US:372281005|SNOMEDCT_US:372283008|SNOMEDCT_US:372285001|UMLS:C0020565|UMLS:C0392533|UMLS:C2225524	hp.json	Breast enlargement|Breasts enlarged|Gigantomastia|Hypertrophy of the breasts|Large breast|Macromastia	http://purl.obolibrary.org/obo/HP_0010313							hposlim_core
HP:0010314	biolink:PhenotypicFeature	Premature thelarche	Premature development of the breasts.	SNOMEDCT_US:102889008|UMLS:C0425772	hp.json	Premature breast development	http://purl.obolibrary.org/obo/HP_0010314							
HP:0010315	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the diaphragm	Absence or underdevelopment of the diaphragm.	UMLS:C4023910	hp.json	Absent/small diaprhagm|Absent/underdeveloped diaprhagm	http://purl.obolibrary.org/obo/HP_0010315							
HP:0010316	biolink:PhenotypicFeature	Ebstein anomaly of the tricuspid valve	Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.	EPCC:06.01.34|ICD-10:Q22.5|MSH:D004437|SNOMEDCT_US:204357006|UMLS:C0013481	hp.json	Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation	http://purl.obolibrary.org/obo/HP_0010316							
HP:0010317	biolink:PhenotypicFeature	Scapular aplasia	Absence of the scapulae.	UMLS:C4021298	hp.json	Absent shoulder blade|Absent scapula	http://purl.obolibrary.org/obo/HP_0010317							hposlim_core
HP:0010318	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the abdominal wall musculature	Absence or underdevelopment of the abdominal musculature.	UMLS:C4023909	hp.json	Absent/small abdominal wall muscles|Absent/underdeveloped abdominal wall muscles	http://purl.obolibrary.org/obo/HP_0010318							
HP:0010319	biolink:PhenotypicFeature	Abnormality of the 2nd toe	An anomaly of the second toe.	UMLS:C4023908	hp.json		http://purl.obolibrary.org/obo/HP_0010319							
HP:0010320	biolink:PhenotypicFeature	Abnormality of the 3rd toe	An anomaly of the third toe.	UMLS:C4023907	hp.json	Abnormality of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010320							
HP:0010321	biolink:PhenotypicFeature	Abnormality of the 4th toe	An anomaly of the fourth toe.	UMLS:C4023906	hp.json	Abnormality of the 4th toe	http://purl.obolibrary.org/obo/HP_0010321							
HP:0010322	biolink:PhenotypicFeature	Abnormality of the 5th toe	An anomaly of the little toe.	UMLS:C4023905	hp.json	Abnormality of the little toe|Abnormality of the pinkie toe|Abnormality of the pinky toe	http://purl.obolibrary.org/obo/HP_0010322							
HP:0010323	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 2nd toe		UMLS:C4023904	hp.json	Abnormality of the end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010323							
HP:0010324	biolink:PhenotypicFeature	Abnormality of phalanx of the 2nd toe	An anomaly of a phalanx of second toe.	UMLS:C4023903	hp.json	Abnormality of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010324							
HP:0010325	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 2nd toe		UMLS:C4023902	hp.json	Absent/small 2nd toe|Absent/underdeveloped 2nd toe	http://purl.obolibrary.org/obo/HP_0010325							
HP:0010326	biolink:PhenotypicFeature	Deviation of the 2nd toe		UMLS:C4021297	hp.json	Displacement of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010326							
HP:0010327	biolink:PhenotypicFeature	Flexion contracture of the 2nd toe	One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.	UMLS:C4021296	hp.json	Joint contractures of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010327							
HP:0010328	biolink:PhenotypicFeature	Polydactyly affecting the 2nd toe		UMLS:C4023901	hp.json		http://purl.obolibrary.org/obo/HP_0010328							
HP:0010329	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 3rd toe		UMLS:C4023900	hp.json	Abnormality of the end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0010329							
HP:0010330	biolink:PhenotypicFeature	Abnormality of the phalanges of the 3rd toe		UMLS:C4023899	hp.json	Abnormality of the bones of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330							
HP:0010331	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 3rd toe		UMLS:C1862698	hp.json	Absent/small 3rd toe|Absent/underdeveloped 3rd toe|Absent/hypoplastic third toe	http://purl.obolibrary.org/obo/HP_0010331							
HP:0010332	biolink:PhenotypicFeature	Deviation of the 3rd toe		UMLS:C4021295	hp.json	Displacement of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010332							
HP:0010333	biolink:PhenotypicFeature	Flexion contracture of 3rd toe	One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.	UMLS:C4021294	hp.json	Joint contractures of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010333							
HP:0010334	biolink:PhenotypicFeature	Polydactyly affecting the 3rd toe		UMLS:C4023898	hp.json		http://purl.obolibrary.org/obo/HP_0010334							
HP:0010335	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 4th toe		UMLS:C4023897	hp.json	Abnormality of the end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0010335							
HP:0010336	biolink:PhenotypicFeature	Abnormality of the phalanges of the 4th toe		UMLS:C4023896	hp.json		http://purl.obolibrary.org/obo/HP_0010336							
HP:0010337	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 4th toe		UMLS:C4023895	hp.json	Absent/small 4th toe|Absent/underdeveloped 4th toe	http://purl.obolibrary.org/obo/HP_0010337							
HP:0010338	biolink:PhenotypicFeature	Deviation of the 4th toe		UMLS:C4021293	hp.json	Displacement of the 4th toe	http://purl.obolibrary.org/obo/HP_0010338							
HP:0010339	biolink:PhenotypicFeature	Flexion contracture of the 4th toe	One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.	UMLS:C4021292	hp.json	Joint contractures of the 4th toe	http://purl.obolibrary.org/obo/HP_0010339							
HP:0010340	biolink:PhenotypicFeature	Polydactyly affecting the 4th toe		UMLS:C4023894	hp.json		http://purl.obolibrary.org/obo/HP_0010340							
HP:0010341	biolink:PhenotypicFeature	Abnormality of the epiphyses of the 5th toe		UMLS:C4023893	hp.json	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	biolink:PhenotypicFeature	Abnormality of the phalanges of the 5th toe		UMLS:C4023892	hp.json	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	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the 5th toe		UMLS:C4023891	hp.json	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	biolink:PhenotypicFeature	Deviation of the 5th toe		UMLS:C4021291	hp.json	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	biolink:PhenotypicFeature	Flexion contracture of the 5th toe	One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.	UMLS:C4021290	hp.json	Joint contractures of the 5th toe	http://purl.obolibrary.org/obo/HP_0010345							
HP:0010347	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 2nd toe		UMLS:C4023890	hp.json	Absent/small bones of 2nd toe|Absent/underdeveloped bones of 2nd toe	http://purl.obolibrary.org/obo/HP_0010347							
HP:0010348	biolink:PhenotypicFeature	Broad phalanges of the 2nd toe		UMLS:C4023889	hp.json	Broad bones of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010348							
HP:0010349	biolink:PhenotypicFeature	Bullet-shaped 2nd toe phalanx	An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021289	hp.json	Bullet-shaped bones of the 2nd toe|Bullet-shaped phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010349							
HP:0010350	biolink:PhenotypicFeature	Curved 2nd toe phalanx	A deviation from the normal straight form of one or more phalanges of the second toe.	UMLS:C4021288	hp.json	Curved bones of the 2nd toe|Curved phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010350							
HP:0010351	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 2nd toe		UMLS:C4023888	hp.json		http://purl.obolibrary.org/obo/HP_0010351							
HP:0010352	biolink:PhenotypicFeature	Patchy sclerosis of 2nd toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021287	hp.json	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							
HP:0010353	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the 2nd toe	Fusion of the interphalangeal joints of the 2nd toe.	UMLS:C4023887	hp.json	Fused bones of 2nd toe	http://purl.obolibrary.org/obo/HP_0010353							
HP:0010354	biolink:PhenotypicFeature	Triangular shaped phalanges of the 2nd toe		UMLS:C4023886	hp.json	Triangular shaped bone of 2nd toe|Triangular shaped bone of second toe	http://purl.obolibrary.org/obo/HP_0010354							
HP:0010355	biolink:PhenotypicFeature	Duplication of the phalanges of the 2nd toe	Partial or complete duplication of a phalanx of second toe.	UMLS:C4021286	hp.json	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							
HP:0010356	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 2nd toe		UMLS:C4023885	hp.json	Abnormality of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356							
HP:0010357	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 2nd toe		UMLS:C4023884	hp.json	Abnormality of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357							
HP:0010358	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 2nd toe		UMLS:C4023883	hp.json	Abnormality of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358							
HP:0010359	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 3rd toe		UMLS:C4023882	hp.json	Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0010359							
HP:0010360	biolink:PhenotypicFeature	Broad phalanges of the 3rd toe		UMLS:C4023881	hp.json	Wide bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0010360							
HP:0010361	biolink:PhenotypicFeature	Bullet-shaped 3rd toe phalanx	An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021285	hp.json	Bullet-shaped bones of 3rd toe|Bullet-shaped phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010361							
HP:0010362	biolink:PhenotypicFeature	Curved 3rd toe phalanx	A deviation from the normal straight form of one or more phalanges of the third toe.	UMLS:C4021284	hp.json	Curved bones of 3rd toe|Curved phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010362							
HP:0010363	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 3rd toe		UMLS:C4021825	hp.json		http://purl.obolibrary.org/obo/HP_0010363							
HP:0010364	biolink:PhenotypicFeature	Patchy sclerosis of 3rd toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021283	hp.json	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							
HP:0010365	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the 3rd toe		UMLS:C4023880	hp.json	Fused bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0010365							
HP:0010366	biolink:PhenotypicFeature	Triangular shaped phalanges of the 3rd toe		UMLS:C4023879	hp.json	Triangular shaped 3rd toe bones	http://purl.obolibrary.org/obo/HP_0010366							
HP:0010367	biolink:PhenotypicFeature	Duplication of phalanx of the 3rd toe	Partial or complete duplication of phalanx of third toe.	UMLS:C4021282	hp.json	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							
HP:0010368	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 3rd toe		UMLS:C4023878	hp.json	Abnormality of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010368							
HP:0010369	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 3rd toe		UMLS:C4023877	hp.json	Abnormality of the middle bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0010369							
HP:0010370	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 3rd toe	An anomaly of the proximal phalanx of third toe.	UMLS:C4023876	hp.json	Abnormality of the innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0010370							
HP:0010371	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 4th toe		UMLS:C4023875	hp.json	Absent/small bones of 4th toe|Absent/underdeveloped bones of 4th toe	http://purl.obolibrary.org/obo/HP_0010371							
HP:0010372	biolink:PhenotypicFeature	Broad phalanges of the 4th toe		UMLS:C4023874	hp.json	Broad bones of the 4th toe	http://purl.obolibrary.org/obo/HP_0010372							
HP:0010373	biolink:PhenotypicFeature	Bullet-shaped 4th toe phalanx	An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021281	hp.json	Bullet-shaped bones of the 4th toe|Bullet-shaped phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010373							
HP:0010374	biolink:PhenotypicFeature	Curved 4th toe phalanx	A deviation from the normal straight form of one or more phalanges of the fourth toe.	UMLS:C4021280	hp.json	Curved bones of 4th toe|Curved phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010374							
HP:0010375	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 4th toe		UMLS:C4023873	hp.json		http://purl.obolibrary.org/obo/HP_0010375							
HP:0010376	biolink:PhenotypicFeature	Patchy sclerosis of 4th toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021279	hp.json	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							
HP:0010377	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the 4th toe		UMLS:C4023872	hp.json	Fused bones of 4th toe	http://purl.obolibrary.org/obo/HP_0010377							
HP:0010378	biolink:PhenotypicFeature	Triangular shaped phalanges of the 4th toe		UMLS:C4023871	hp.json	Triangular shaped bones of 4th toe	http://purl.obolibrary.org/obo/HP_0010378							
HP:0010379	biolink:PhenotypicFeature	Duplication of phalanx of the 4th toe	Partial or complete duplication of phalanx of fourth toe.	UMLS:C4021278	hp.json	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							
HP:0010380	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 4th toe		UMLS:C4023870	hp.json	Abnormality of the outermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0010380							
HP:0010381	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 4th toe		UMLS:C4023869	hp.json	Abnormality of middle 4th toe bone	http://purl.obolibrary.org/obo/HP_0010381							
HP:0010382	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 4th toe		UMLS:C4023868	hp.json	Abnormal innermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0010382							
HP:0010383	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the phalanges of the 5th toe		UMLS:C4023867	hp.json	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	biolink:PhenotypicFeature	Broad phalanges of the 5th toe		UMLS:C4023866	hp.json	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	biolink:PhenotypicFeature	Bullet-shaped 5th toe phalanx	An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4021277	hp.json	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							
HP:0010386	biolink:PhenotypicFeature	Curved 5th toe phalanx	A deviation from the normal straight form of one or more phalanges of the fifth toe.	UMLS:C4021276	hp.json	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							
HP:0010387	biolink:PhenotypicFeature	Osteolytic defects of the phalanges of the 5th toe		UMLS:C4023865	hp.json		http://purl.obolibrary.org/obo/HP_0010387							
HP:0010388	biolink:PhenotypicFeature	Patchy sclerosis of 5th toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4021275	hp.json	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							
HP:0010389	biolink:PhenotypicFeature	Symphalangism affecting the phalanges of the 5th toe		UMLS:C4023864	hp.json	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	biolink:PhenotypicFeature	Triangular shaped phalanges of the 5th toe		UMLS:C4023863	hp.json	Triangular shaped little toe bone|Triangular shaped pinkie toe bone|Triangular shaped pinky toe bone	http://purl.obolibrary.org/obo/HP_0010390							
HP:0010391	biolink:PhenotypicFeature	Duplication of the phalanges of the 5th toe	Partial or complete duplication of one or more phalanx of little toe.	UMLS:C4020903	hp.json	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							
HP:0010392	biolink:PhenotypicFeature	Abnormality of the distal phalanx of the 5th toe		UMLS:C4023862	hp.json	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	biolink:PhenotypicFeature	Abnormality of the middle phalanx of the 5th toe		UMLS:C4023861	hp.json	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	biolink:PhenotypicFeature	Abnormality of the proximal phalanx of the 5th toe		UMLS:C4023860	hp.json	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	biolink:PhenotypicFeature	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe.	UMLS:C4023859	hp.json	Absent/small innermost 2nd toe bone|Absent/underdeveloped innermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010395							
HP:0010396	biolink:PhenotypicFeature	Broad proximal phalanx of the 2nd toe		UMLS:C4023858	hp.json	Broad innermost bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010396							
HP:0010397	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 2nd toe	An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4023857	hp.json	Bullet-shaped innermost bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010397							
HP:0010398	biolink:PhenotypicFeature	Curved proximal phalanx of the 2nd toe	A deviation from the normal straight form of the proximal phalanx of the 2nd toe.	UMLS:C4023856	hp.json	Curved innermost bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010398							
HP:0010399	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 2nd toe		UMLS:C4023855	hp.json		http://purl.obolibrary.org/obo/HP_0010399							
HP:0010400	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 2nd toe		UMLS:C4023854	hp.json	Uneven increase in bone density in the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010400							
HP:0010401	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 2nd toe		UMLS:C4023853	hp.json	Fused innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010401							
HP:0010402	biolink:PhenotypicFeature	Triangular shaped proximal phalanx of the 2nd toe		UMLS:C4023852	hp.json	Triangular shaped innermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010402							
HP:0010403	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 2nd toe	Partial or complete duplication of proximal phalanx of second toe.	UMLS:C4021274	hp.json	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							
HP:0010404	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe		UMLS:C4023851	hp.json	Absent/small middle bone of 2nd toe|Absent/underdeveloped middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010404							
HP:0010405	biolink:PhenotypicFeature	Broad middle phalanx of the 2nd toe		UMLS:C4023850	hp.json	Broad middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010405							
HP:0010406	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 2nd toe	An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4023849	hp.json	Bullet-shaped middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010406							
HP:0010407	biolink:PhenotypicFeature	Curved middle phalanx of the 2nd toe	A deviation from the normal straight form of the middle phalanx of the 2nd toe.	UMLS:C4023848	hp.json	Curved middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010407							
HP:0010408	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 2nd toe		UMLS:C4023847	hp.json		http://purl.obolibrary.org/obo/HP_0010408							
HP:0010409	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 2nd toe		UMLS:C4023846	hp.json	Uneven increase in bone density in the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010409							
HP:0010410	biolink:PhenotypicFeature	Symphalangism affecting the middle phalanx of the 2nd toe		UMLS:C4023845	hp.json	Fused middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010410							
HP:0010411	biolink:PhenotypicFeature	Triangular shaped middle phalanx of the 2nd toe		UMLS:C4023844	hp.json	Triangular shaped middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010411							
HP:0010412	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 2nd toe	Partial or complete duplication of middle phalanx of second toe.	UMLS:C4021273	hp.json	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							
HP:0010413	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe		UMLS:C4023843	hp.json	Absent/small outermost 2nd toe bone|Absent/underdeveloped outermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010413							
HP:0010414	biolink:PhenotypicFeature	Broad distal phalanx of the 2nd toe		UMLS:C4023842	hp.json	Broad outermost bone of the 2nd toe|Wide outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010414							
HP:0010415	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 2nd toe	An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4023841	hp.json	Bullet-shaped outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010415							
HP:0010416	biolink:PhenotypicFeature	Curved distal phalanx of the 2nd toe	A deviation from the normal straight form of the distal phalanx of the 2nd toe.	UMLS:C4023840	hp.json	Curved outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010416							
HP:0010417	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 2nd toe		UMLS:C4023839	hp.json		http://purl.obolibrary.org/obo/HP_0010417							
HP:0010418	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 2nd toe		UMLS:C4023838	hp.json	Uneven increase in bone density in the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010418							
HP:0010419	biolink:PhenotypicFeature	Symphalangism affecting the distal phalanx of the 2nd toe		UMLS:C4023837	hp.json	Fused outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010419							
HP:0010420	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the 2nd toe		UMLS:C4023836	hp.json	Triangular shaped outermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010420							
HP:0010421	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 2nd toe	Partial or complete duplication of the distal phalanx of second toe.	UMLS:C4021272	hp.json	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							
HP:0010422	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 2nd toe	Complete duplication of proximal phalanx of second toe.	UMLS:C4021271	hp.json	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							
HP:0010423	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 2nd toe	Partial duplication of proximal phalanx of second toe.	UMLS:C4021270	hp.json	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							
HP:0010424	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 2nd toe	Complete duplication of the distal phalanx of second toe.	UMLS:C4023835	hp.json	Complete duplication of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010424							
HP:0010425	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 2nd toe	Partial duplication of the distal phalanx of second toe.	UMLS:C4023834	hp.json	Partial duplication of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010425							
HP:0010426	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 2nd toe	Complete duplication of middle phalanx of second toe.	UMLS:C4023833	hp.json	Complete duplication of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010426							
HP:0010427	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 2nd toe	Partial duplication of middle phalanx of second toe.	UMLS:C4023832	hp.json	Partial duplication of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010427							
HP:0010428	biolink:PhenotypicFeature	Partial duplication of phalanx of the 2nd toe	Partial duplication of a phalanx of second toe.	UMLS:C4023831	hp.json	Partial duplication of 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010428							
HP:0010429	biolink:PhenotypicFeature	Complete duplication of the phalanges of the 2nd toe	Complete duplication of a phalanx of second toe.	UMLS:C4023830	hp.json	Complete duplication of the 2nd toe bones	http://purl.obolibrary.org/obo/HP_0010429							
HP:0010430	biolink:PhenotypicFeature	Aplasia of the phalanges of the 2nd toe		UMLS:C4023829	hp.json	Absent 2nd toe bones	http://purl.obolibrary.org/obo/HP_0010430							
HP:0010431	biolink:PhenotypicFeature	Short phalanx of the 2nd toe	Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.	UMLS:C4021269	hp.json	Short 2nd toe bone|Hypoplastic/small phalanges of the 2nd toe|Short phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010431							
HP:0010432	biolink:PhenotypicFeature	Absent distal phalanx of the 2nd toe	Absence of distal phalanx of the second toe as a result of developmental aplasia.	UMLS:C4021268	hp.json	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							
HP:0010433	biolink:PhenotypicFeature	Short distal phalanx of the 2nd toe	Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.	UMLS:C4021267	hp.json	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							
HP:0010434	biolink:PhenotypicFeature	Aplasia of the middle phalanx of the 2nd toe		UMLS:C4023828	hp.json	Absent middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010434							
HP:0010435	biolink:PhenotypicFeature	Short middle phalanx of the 2nd toe	Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.	UMLS:C4021266	hp.json	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							
HP:0010436	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 2nd toe		UMLS:C4023827	hp.json	Absent innermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010436							
HP:0010437	biolink:PhenotypicFeature	Short proximal phalanx of the 2nd toe	Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.	UMLS:C4021265	hp.json	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							
HP:0010438	biolink:PhenotypicFeature	Abnormal ventricular septum morphology	A structural abnormality of the interventricular septum.	Fyler:1815|UMLS:C4021264	hp.json	Abnormal interventricular septum morphology|Abnormality of the ventricular septum|Ventricular septum abnormality	http://purl.obolibrary.org/obo/HP_0010438							
HP:0010440	biolink:PhenotypicFeature	Ectopic accesory toe-like appendage	In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).	UMLS:C4023826	hp.json		http://purl.obolibrary.org/obo/HP_0010440							
HP:0010441	biolink:PhenotypicFeature	Ectopic accessory finger-like appendage	In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).	UMLS:C4023825	hp.json		http://purl.obolibrary.org/obo/HP_0010441							
HP:0010442	biolink:PhenotypicFeature	Polydactyly	A congenital anomaly characterized by the presence of supernumerary fingers or toes.	Fyler:4103|MSH:D017689|SNOMEDCT_US:367506006|UMLS:C0152427	hp.json	More than five fingers or toes on hands or feet	http://purl.obolibrary.org/obo/HP_0010442							
HP:0010443	biolink:PhenotypicFeature	Bifid femur	A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.	UMLS:C4023824	hp.json	Notched thighbone|Split thighbone	http://purl.obolibrary.org/obo/HP_0010443							hposlim_core
HP:0010444	biolink:PhenotypicFeature	Pulmonary insufficiency	The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.	MSH:D011665|SNOMEDCT_US:91434003|UMLS:C0034088	hp.json	Pulmonary incompetence|Puolmonary valve insufficiency	http://purl.obolibrary.org/obo/HP_0010444							
HP:0010445	biolink:PhenotypicFeature	Primum atrial septal defect	An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.	Fyler:1110|MSH:C536112|MSH:C548006|SNOMEDCT_US:253373002|UMLS:C0344735|UMLS:C0741296	hp.json	Atrial septal defect, primum type|Ostium primum atrial septal defect|Primum atrioventricular canal defect|Septum primum defect	http://purl.obolibrary.org/obo/HP_0010445							
HP:0010446	biolink:PhenotypicFeature	Tricuspid stenosis	A narrowing of the orifice of the tricuspid valve of the heart.	EPCC:06.01.92|ICD-10:Q22.4|MSH:D014264|SNOMEDCT_US:49915006|UMLS:C0040963	hp.json		http://purl.obolibrary.org/obo/HP_0010446							
HP:0010447	biolink:PhenotypicFeature	Anal fistula	An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.	MEDDRA:10002156|MSH:D012003|SNOMEDCT_US:72779005|UMLS:C0205929	hp.json	Fistula in ano	http://purl.obolibrary.org/obo/HP_0010447							hposlim_core
HP:0010448	biolink:PhenotypicFeature	Colonic atresia	A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.	MSH:C562562|SNOMEDCT_US:37054000|UMLS:C0266190	hp.json	Atresia of the large intestine|Large intestinal atresia	http://purl.obolibrary.org/obo/HP_0010448							
HP:0010450	biolink:PhenotypicFeature	Esophageal stenosis	An abnormal narrowing of the lumen of the esophagus.	MSH:D004940|SNOMEDCT_US:63305008|UMLS:C0014866	hp.json	Narrowing of the esophagus|Narrowing of the oesophagus	http://purl.obolibrary.org/obo/HP_0010450							
HP:0010451	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the spleen	Absence or underdevelopment of the spleen.	UMLS:C4023823	hp.json	Absent/small spleen|Absent/underdeveloped spleen	http://purl.obolibrary.org/obo/HP_0010451							
HP:0010452	biolink:PhenotypicFeature	Ectopia of the spleen	An abnormal (non-anatomic) location of the spleen.	SNOMEDCT_US:65146007|UMLS:C0266632	hp.json	Abnormal spleen location|Ectopic spleen	http://purl.obolibrary.org/obo/HP_0010452							
HP:0010453	biolink:PhenotypicFeature	Pelvic bone asymmetry	Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.	UMLS:C4021263	hp.json	Pelvic asymmetry|Asymmetric pelvis	http://purl.obolibrary.org/obo/HP_0010453							hposlim_core
HP:0010454	biolink:PhenotypicFeature	Acetabular spurs	The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.	UMLS:C3808270	hp.json		http://purl.obolibrary.org/obo/HP_0010454							hposlim_core
HP:0010455	biolink:PhenotypicFeature	Steep acetabular roof	An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.	UMLS:C3150931	hp.json		http://purl.obolibrary.org/obo/HP_0010455							
HP:0010456	biolink:PhenotypicFeature	Abnormal greater sciatic notch morphology	An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.	UMLS:C4023822	hp.json	Abnormality of greater sciatic notch|Abnormality of the greater sacrosciatic notch|Abnormality of the sacroiliac notch	http://purl.obolibrary.org/obo/HP_0010456							
HP:0010457	biolink:PhenotypicFeature	obsolete Widening of the sacrosciatic notch			hp.json		http://purl.obolibrary.org/obo/HP_0010457							
HP:0010458	biolink:PhenotypicFeature	Female pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.	MSH:D058489|SNOMEDCT_US:8800006|UMLS:C0238394	hp.json		http://purl.obolibrary.org/obo/HP_0010458							
HP:0010459	biolink:PhenotypicFeature	True hermaphroditism	The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.	MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361	hp.json	Testicular and ovarian tissue present	http://purl.obolibrary.org/obo/HP_0010459							
HP:0010460	biolink:PhenotypicFeature	Abnormality of the female genitalia	Abnormality of the female genital system.	UMLS:C4023820	hp.json		http://purl.obolibrary.org/obo/HP_0010460							
HP:0010461	biolink:PhenotypicFeature	Abnormality of the male genitalia	Abnormality of the male genital system.	UMLS:C4023819	hp.json	Abnormal male genitals|Abnormality of the male genitalia	http://purl.obolibrary.org/obo/HP_0010461							
HP:0010462	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the ovary	Aplasia or developmental hypoplasia of the ovary.	UMLS:C4023818	hp.json	Absent/small ovary|Absent/underdeveloped ovary	http://purl.obolibrary.org/obo/HP_0010462							
HP:0010463	biolink:PhenotypicFeature	Aplasia of the ovary	Aplasia, that is failure to develop, of the ovary.	SNOMEDCT_US:12017008|UMLS:C0266368	hp.json	Absent ovary|Aplasia of the ovaries|Bilateral absent ovaries	http://purl.obolibrary.org/obo/HP_0010463							
HP:0010464	biolink:PhenotypicFeature	Streak ovary	A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.	SNOMEDCT_US:70550008|UMLS:C0266371	hp.json		http://purl.obolibrary.org/obo/HP_0010464							
HP:0010465	biolink:PhenotypicFeature	Precocious puberty in females	The onset of puberty before the age of 8 years in girls.	SNOMEDCT_US:19911007|UMLS:C0271616	hp.json		http://purl.obolibrary.org/obo/HP_0010465							
HP:0010468	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the testes	Absence or underdevelopment of the testes.	UMLS:C4023817	hp.json	Absent/small testes|Absent/underdeveloped testes	http://purl.obolibrary.org/obo/HP_0010468							
HP:0010469	biolink:PhenotypicFeature	Absent testis	Testis not palpable in the scrotum or inguinal canal.	UMLS:C4023816	hp.json	Absent testes|Absence of palpable testicules|Aplasia of the testes	http://purl.obolibrary.org/obo/HP_0010469							
HP:0010470	biolink:PhenotypicFeature	Supernumerary testes	The presence of more than two testes.	SNOMEDCT_US:17471001|UMLS:C0266430	hp.json	Extra testes|Polyorchidism	http://purl.obolibrary.org/obo/HP_0010470							
HP:0010471	biolink:PhenotypicFeature	Oligosacchariduria	Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.	UMLS:C4023815	hp.json		http://purl.obolibrary.org/obo/HP_0010471							
HP:0010472	biolink:PhenotypicFeature	Abnormal circulating porphyrin concentration	An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.	UMLS:C4023814	hp.json		http://purl.obolibrary.org/obo/HP_0010472							
HP:0010473	biolink:PhenotypicFeature	Porphyrinuria	Abnormally increased excretion of porphyrins in the urine.	SNOMEDCT_US:44574006|UMLS:C0151861	hp.json		http://purl.obolibrary.org/obo/HP_0010473							
HP:0010474	biolink:PhenotypicFeature	Bladder stones	Buildups of minerals that form in the urinary bladder.	MSH:D001744|SNOMEDCT_US:70650003|UMLS:C0005683	hp.json		http://purl.obolibrary.org/obo/HP_0010474							
HP:0010475	biolink:PhenotypicFeature	Cloacal exstrophy	Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.	SNOMEDCT_US:20815007|UMLS:C0345217	hp.json		http://purl.obolibrary.org/obo/HP_0010475							
HP:0010476	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the bladder	Absence or underdevelopment of the urinary bladder.	UMLS:C4023813	hp.json	Absent/small bladder|Absent/underdeveloped bladder	http://purl.obolibrary.org/obo/HP_0010476							
HP:0010477	biolink:PhenotypicFeature	Aplasia of the bladder	Aplasia (absence) of the urinary bladder.	UMLS:C4023812	hp.json	Absent bladder	http://purl.obolibrary.org/obo/HP_0010477							
HP:0010478	biolink:PhenotypicFeature	Abnormality of the urachus	Abnormality of the urachus.	UMLS:C4023811	hp.json		http://purl.obolibrary.org/obo/HP_0010478							
HP:0010479	biolink:PhenotypicFeature	Patent urachus	Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.	SNOMEDCT_US:398316009|UMLS:C0266357	hp.json	Persistent urachus	http://purl.obolibrary.org/obo/HP_0010479							
HP:0010480	biolink:PhenotypicFeature	Urethral fistula	The presence of an abnormal connection between the urethra and another organ or the skin.	SNOMEDCT_US:14981000|UMLS:C0041970	hp.json		http://purl.obolibrary.org/obo/HP_0010480							
HP:0010481	biolink:PhenotypicFeature	Urethral valve	The presence of an abnormal membrane obstructing the urethra.	SNOMEDCT_US:297163001|UMLS:C0266345	hp.json		http://purl.obolibrary.org/obo/HP_0010481							
HP:0010482	biolink:PhenotypicFeature	Acromelia of the upper limbs	Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.	UMLS:C4023810	hp.json		http://purl.obolibrary.org/obo/HP_0010482							
HP:0010483	biolink:PhenotypicFeature	Amniotic constriction rings of arms	Amniotic constriction rings affecting the arms.	UMLS:C4023809	hp.json		http://purl.obolibrary.org/obo/HP_0010483							
HP:0010484	biolink:PhenotypicFeature	Hypertrophy of the upper limb	Abnormal increase in size of the upper limbs (due to an increase of the size of cells).	SNOMEDCT_US:298745009|UMLS:C0575518	hp.json	Increased size of upper limb	http://purl.obolibrary.org/obo/HP_0010484							
HP:0010485	biolink:PhenotypicFeature	Hyperextensibility at elbow	The ability of the elbow joint to move beyond its normal range of motion.	UMLS:C4023808	hp.json		http://purl.obolibrary.org/obo/HP_0010485							
HP:0010486	biolink:PhenotypicFeature	Abnormality of the hypothenar eminence	An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).	UMLS:C4023807	hp.json		http://purl.obolibrary.org/obo/HP_0010486							
HP:0010487	biolink:PhenotypicFeature	Small hypothenar eminence	Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.	UMLS:C1861395	hp.json	Hypoplasia of the hypothenar eminence|Hypothenar hypoplasia	http://purl.obolibrary.org/obo/HP_0010487							hposlim_core
HP:0010488	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the palmar creases	Absence or underdevelopment of the palmar creases.	UMLS:C4023806	hp.json	Absent/small palm crease|Absent/underdeveloped palm crease	http://purl.obolibrary.org/obo/HP_0010488							
HP:0010489	biolink:PhenotypicFeature	Absent palmar crease	The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).	UMLS:C4021262	hp.json	Absent palm lines|Absence of the palmar creases|Aplasia of the palmar creases	http://purl.obolibrary.org/obo/HP_0010489							hposlim_core
HP:0010490	biolink:PhenotypicFeature	Abnormality of the palmar creases	An abnormality of the creases of the skin of palm of hand.	SNOMEDCT_US:205557000|UMLS:C0221199	hp.json	Abnormality of the palm lines	http://purl.obolibrary.org/obo/HP_0010490							hposlim_core
HP:0010491	biolink:PhenotypicFeature	Digital constriction ring	A narrow segment of significantly reduced circumference of a digit.	UMLS:C4021261	hp.json	Amniotic constriction rings of digits	http://purl.obolibrary.org/obo/HP_0010491							hposlim_core
HP:0010492	biolink:PhenotypicFeature	Osseous finger syndactyly	Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".	SNOMEDCT_US:2560006|UMLS:C0158736	hp.json	Osseous syndactyly of the fingers	http://purl.obolibrary.org/obo/HP_0010492							hposlim_core
HP:0010493	biolink:PhenotypicFeature	Long metacarpals	An abnormally increased length of the metacarpal bones.	UMLS:C4021260	hp.json	Elongated long bone of hand|Increased length of metacarpals	http://purl.obolibrary.org/obo/HP_0010493							hposlim_core
HP:0010494	biolink:PhenotypicFeature	Acromelia of the lower limbs	Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.	UMLS:C4023805	hp.json		http://purl.obolibrary.org/obo/HP_0010494							
HP:0010495	biolink:PhenotypicFeature	Amniotic constriction rings of legs	Amniotic constriction rings affecting the legs.	UMLS:C4023804	hp.json		http://purl.obolibrary.org/obo/HP_0010495							
HP:0010496	biolink:PhenotypicFeature	Hypertrophy of the lower limb	Abnormal increase in size of the lower limbs (due to an increase of the size of cells).	UMLS:C4023803	hp.json		http://purl.obolibrary.org/obo/HP_0010496							
HP:0010497	biolink:PhenotypicFeature	Sirenomelia	A developmental defect in which the legs are fused together.	MEDDRA:10049216|MSH:D004480|SNOMEDCT_US:253191000|SNOMEDCT_US:67254002|SNOMEDCT_US:91089008|UMLS:C0037205	hp.json	Sympodia	http://purl.obolibrary.org/obo/HP_0010497							hposlim_core
HP:0010498	biolink:PhenotypicFeature	Bipartite patella	A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.	SNOMEDCT_US:79214007|UMLS:C0265666	hp.json		http://purl.obolibrary.org/obo/HP_0010498							hposlim_core
HP:0010499	biolink:PhenotypicFeature	Patellar subluxation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.	UMLS:C0857276	hp.json	Partial knee cap dislocation|Subluxation of patella	http://purl.obolibrary.org/obo/HP_0010499							
HP:0010500	biolink:PhenotypicFeature	Hyperextensibility of the knee	The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).	UMLS:C4023802	hp.json		http://purl.obolibrary.org/obo/HP_0010500							
HP:0010501	biolink:PhenotypicFeature	Limitation of knee mobility	An abnormal limitation of knee joint mobility.	UMLS:C4021259	hp.json	Limitation of knee mobility|Limited knee movement	http://purl.obolibrary.org/obo/HP_0010501							
HP:0010502	biolink:PhenotypicFeature	Fibular bowing	A bending or abnormal curvature of the fibula.	UMLS:C4023801	hp.json	Bowed calf bone	http://purl.obolibrary.org/obo/HP_0010502							
HP:0010503	biolink:PhenotypicFeature	Fibular duplication	Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.	UMLS:C3276742	hp.json	Duplicated calf bone	http://purl.obolibrary.org/obo/HP_0010503							hposlim_core
HP:0010504	biolink:PhenotypicFeature	Increased length of the tibia	An abnormal increase in the length of the tibia.	UMLS:C4021864	hp.json	Increased length of shankbone|Increased length of shinbone	http://purl.obolibrary.org/obo/HP_0010504							
HP:0010505	biolink:PhenotypicFeature	Limitation of movement at ankles	An abnormal limitation of the mobility of the ankle joint.	UMLS:C4023800	hp.json		http://purl.obolibrary.org/obo/HP_0010505							
HP:0010506	biolink:PhenotypicFeature	Abnormal plantar dermatoglyphics	An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.	UMLS:C4021258	hp.json	Abnormal prints on feet|Abnormal dermatoglyphics on feet	http://purl.obolibrary.org/obo/HP_0010506							
HP:0010507	biolink:PhenotypicFeature	Foot asymmetry	A difference in size or shape between the left and right foot.	UMLS:C4023799	hp.json		http://purl.obolibrary.org/obo/HP_0010507							
HP:0010508	biolink:PhenotypicFeature	Metatarsus valgus	A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.	MSH:D000070591|UMLS:C4082144	hp.json		http://purl.obolibrary.org/obo/HP_0010508							
HP:0010509	biolink:PhenotypicFeature	Aplasia of the tarsal bones	Absence of the tarsal bones.	UMLS:C4021257	hp.json	Absent ankle bone|Absent tarsals	http://purl.obolibrary.org/obo/HP_0010509							
HP:0010510	biolink:PhenotypicFeature	Hypermobility of toe joints	An ability of the toe joints to move beyond their normal range of motion.	UMLS:C4023798	hp.json		http://purl.obolibrary.org/obo/HP_0010510							
HP:0010511	biolink:PhenotypicFeature	Long toe	Toes that appear disproportionately long compared to the foot.	UMLS:C3150613	hp.json	Increased length of toes|Long toe|Long toes	http://purl.obolibrary.org/obo/HP_0010511							hposlim_core
HP:0010512	biolink:PhenotypicFeature	Adrenal calcification	Calcification within the adrenal glands.	SNOMEDCT_US:12286000|UMLS:C0271750	hp.json		http://purl.obolibrary.org/obo/HP_0010512							
HP:0010513	biolink:PhenotypicFeature	Pituitary calcification	Deposition of calcium salts in the pituitary gland.	UMLS:C4023797	hp.json		http://purl.obolibrary.org/obo/HP_0010513							
HP:0010514	biolink:PhenotypicFeature	Hyperpituitarism	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.	MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506	hp.json		http://purl.obolibrary.org/obo/HP_0010514							
HP:0010515	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the thymus	Absence or underdevelopment of the thymus.	UMLS:C3278004|UMLS:C4023796	hp.json	Absent/small thymus|Absent/underdeveloped thymus|Thymic hypoplasia or aplasia	http://purl.obolibrary.org/obo/HP_0010515							
HP:0010516	biolink:PhenotypicFeature	Thymus hyperplasia	Enlargement of the thymus.	MSH:D013952|UMLS:C0040115	hp.json	Enlarged thymus|Thymic hyperplasia	http://purl.obolibrary.org/obo/HP_0010516							
HP:0010517	biolink:PhenotypicFeature	Ectopic thymus tissue	The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.	UMLS:C4023795	hp.json	Abnormal thymus position	http://purl.obolibrary.org/obo/HP_0010517							
HP:0010518	biolink:PhenotypicFeature	Thyroglossal cyst	An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.	MSH:D013955|SNOMEDCT_US:39462005|UMLS:C0040124	hp.json	Thyroglossal duct cyst	http://purl.obolibrary.org/obo/HP_0010518							hposlim_core
HP:0010519	biolink:PhenotypicFeature	Increased fetal movement	An abnormal increase in quantity or strength of fetal movements.	UMLS:C4021256	hp.json	Foetal hyperkinesia|Increased foetal movement|Fetal hyperkinesia	http://purl.obolibrary.org/obo/HP_0010519							
HP:0010521	biolink:PhenotypicFeature	Gait apraxia	Gait apraxia affecting the ability to make walking movements with the legs.	MSH:D020235|SNOMEDCT_US:30767006|UMLS:C1510417	hp.json		http://purl.obolibrary.org/obo/HP_0010521							
HP:0010522	biolink:PhenotypicFeature	Dyslexia	A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).	MSH:D004410|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006|SNOMEDCT_US:9236007|UMLS:C0476254	hp.json	Reading disability	http://purl.obolibrary.org/obo/HP_0010522							
HP:0010523	biolink:PhenotypicFeature	Alexia	An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.	MSH:D004410|SNOMEDCT_US:9236007|UMLS:C0002018	hp.json	Text blindness|Word blindness	http://purl.obolibrary.org/obo/HP_0010523							
HP:0010524	biolink:PhenotypicFeature	Agnosia	Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.	MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816	hp.json		http://purl.obolibrary.org/obo/HP_0010524							
HP:0010525	biolink:PhenotypicFeature	Finger agnosia	An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.	MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509	hp.json		http://purl.obolibrary.org/obo/HP_0010525							
HP:0010526	biolink:PhenotypicFeature	Dysgraphia	A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.	MSH:D000381|SNOMEDCT_US:88278002|UMLS:C0234144	hp.json		http://purl.obolibrary.org/obo/HP_0010526							
HP:0010527	biolink:PhenotypicFeature	Astereognosia	Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.	MSH:D000377|SNOMEDCT_US:25094008|UMLS:C0234505	hp.json	Astereognosis|Somatosensory agnosia	http://purl.obolibrary.org/obo/HP_0010527							
HP:0010528	biolink:PhenotypicFeature	Prosopagnosia	Inability to recognize faces of familiar persons.	MSH:D020238|SNOMEDCT_US:18358003|UMLS:C0234512	hp.json	Face blindness|Facial agnosia	http://purl.obolibrary.org/obo/HP_0010528							
HP:0010529	biolink:PhenotypicFeature	Echolalia	The tendency to repeat vocalizations made by another person.	MSH:D004454|SNOMEDCT_US:64712007|UMLS:C0013528|UMLS:C4280380	hp.json	Repeated speech|Echoing another person's speech|Echologia|Echophrasia	http://purl.obolibrary.org/obo/HP_0010529							
HP:0010530	biolink:PhenotypicFeature	Palatal myoclonus	Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.	MSH:D009207|SNOMEDCT_US:9366002|UMLS:C0030214	hp.json		http://purl.obolibrary.org/obo/HP_0010530							
HP:0010531	biolink:PhenotypicFeature	Spinal myoclonus	Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.	SNOMEDCT_US:698836007|UMLS:C3697670	hp.json		http://purl.obolibrary.org/obo/HP_0010531							
HP:0010532	biolink:PhenotypicFeature	Paroxysmal vertigo	Paroxysmal episodes of vertigo.	MSH:D014717|SNOMEDCT_US:103290003|UMLS:C0522357	hp.json		http://purl.obolibrary.org/obo/HP_0010532							
HP:0010533	biolink:PhenotypicFeature	Spasmus nutans	The combination of pendular nystagmus, head nodding, and torticollis.	MSH:D013036|SNOMEDCT_US:18191000|UMLS:C0546878	hp.json		http://purl.obolibrary.org/obo/HP_0010533							
HP:0010534	biolink:PhenotypicFeature	Transient global amnesia	A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.	MSH:D020236|SNOMEDCT_US:230736007|UMLS:C0338591	hp.json		http://purl.obolibrary.org/obo/HP_0010534							
HP:0010535	biolink:PhenotypicFeature	Sleep apnea	An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.	MSH:D012891|SNOMEDCT_US:73430006|UMLS:C0037315	hp.json	Pauses in breathing while sleeping|Sleep apnoea	http://purl.obolibrary.org/obo/HP_0010535							
HP:0010536	biolink:PhenotypicFeature	Central sleep apnea	Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.	MSH:D020182|UMLS:C0520680	hp.json	Central sleep apnoea	http://purl.obolibrary.org/obo/HP_0010536							
HP:0010537	biolink:PhenotypicFeature	Wide cranial sutures	An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).	SNOMEDCT_US:268855009|UMLS:C0410935	hp.json	Large cranial suture|Persistent open cranial sutures|Broad cranial sutures|Widened cranial sutures|open cranial sutures	http://purl.obolibrary.org/obo/HP_0010537							hposlim_core
HP:0010538	biolink:PhenotypicFeature	Small sella turcica	An abnormally small sella turcica.	UMLS:C4023794|UMLS:C4072875|UMLS:C4072876	hp.json	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							hposlim_core
HP:0010539	biolink:PhenotypicFeature	Thin calvarium	The presence of an abnormally thin calvarium.	UMLS:C1856231|UMLS:C4280379	hp.json	Thin skull bone|Thin cranial bone	http://purl.obolibrary.org/obo/HP_0010539							hposlim_core
HP:0010540	biolink:PhenotypicFeature	Advanced pneumatization of cranial sinuses	A degree of pneumatization that is increased compared to age-related norms.	UMLS:C4023793	hp.json		http://purl.obolibrary.org/obo/HP_0010540							
HP:0010541	biolink:PhenotypicFeature	Cutis gyrata of scalp	The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.	SNOMEDCT_US:51603000|UMLS:C0263417|UMLS:C4072877|UMLS:C4280378	hp.json	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							
HP:0010542	biolink:PhenotypicFeature	Vestibular nystagmus	Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.	SNOMEDCT_US:46888001|UMLS:C0155379	hp.json		http://purl.obolibrary.org/obo/HP_0010542							
HP:0010543	biolink:PhenotypicFeature	Opsoclonus	Bursts of large-amplitude multidirectional saccades without intersaccadic interval	MSH:D015835|SNOMEDCT_US:194177006|UMLS:C0242567	hp.json		http://purl.obolibrary.org/obo/HP_0010543							
HP:0010544	biolink:PhenotypicFeature	Vertical nystagmus	Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.	MSH:D009759|SNOMEDCT_US:111533001|UMLS:C0271386	hp.json		http://purl.obolibrary.org/obo/HP_0010544							hposlim_core
HP:0010545	biolink:PhenotypicFeature	Downbeat nystagmus	Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.	SNOMEDCT_US:307676006|UMLS:C0585544	hp.json		http://purl.obolibrary.org/obo/HP_0010545							
HP:0010546	biolink:PhenotypicFeature	Muscle fibrillation	Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.	SNOMEDCT_US:41405005|UMLS:C0231531	hp.json	Twitching	http://purl.obolibrary.org/obo/HP_0010546							
HP:0010547	biolink:PhenotypicFeature	Muscle flaccidity	A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.	MSH:D009123|SNOMEDCT_US:186611004|SNOMEDCT_US:397488002|UMLS:C0026825	hp.json		http://purl.obolibrary.org/obo/HP_0010547							
HP:0010548	biolink:PhenotypicFeature	Percussion myotonia	A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).	MSH:D009222|UMLS:C0751359	hp.json	Transient swelling of muscle induced by percussion	http://purl.obolibrary.org/obo/HP_0010548							
HP:0010549	biolink:PhenotypicFeature	Weakness due to upper motor neuron dysfunction	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.	UMLS:C4021255	hp.json	Paralysis due to lesions of the principle motor tracts	http://purl.obolibrary.org/obo/HP_0010549							
HP:0010550	biolink:PhenotypicFeature	Paraplegia	Severe or complete weakness of both lower extremities with sparing of the upper extremities.	MSH:D010264|SNOMEDCT_US:60389000|UMLS:C0030486	hp.json	Leg paralysis	http://purl.obolibrary.org/obo/HP_0010550							
HP:0010551	biolink:PhenotypicFeature	Paraplegia/paraparesis	Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.	UMLS:C4023792	hp.json		http://purl.obolibrary.org/obo/HP_0010551							
HP:0010553	biolink:PhenotypicFeature	Oculogyric crisis	An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.	SNOMEDCT_US:5332004|UMLS:C0085637	hp.json		http://purl.obolibrary.org/obo/HP_0010553							
HP:0010554	biolink:PhenotypicFeature	Cutaneous finger syndactyly	A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.	UMLS:C4021254	hp.json	Webbed fingers|Webbed skin of fingers|Cutaneous syndactyly of fingers|Cutaneous syndactyly of hands	http://purl.obolibrary.org/obo/HP_0010554							hposlim_core
HP:0010557	biolink:PhenotypicFeature	Overlapping fingers	A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.	UMLS:C1446712	hp.json		http://purl.obolibrary.org/obo/HP_0010557							hposlim_core
HP:0010558	biolink:PhenotypicFeature	Abnormality of the clivus	An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.	UMLS:C4023791	hp.json		http://purl.obolibrary.org/obo/HP_0010558							
HP:0010559	biolink:PhenotypicFeature	Vertical clivus	An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).	UMLS:C1844702	hp.json		http://purl.obolibrary.org/obo/HP_0010559							
HP:0010560	biolink:PhenotypicFeature	Undulate clavicles	An abnormally wavy surface or edge of the clavicles.	UMLS:C4021253	hp.json	Wavy collarbone|Wavy clavicles	http://purl.obolibrary.org/obo/HP_0010560							
HP:0010561	biolink:PhenotypicFeature	Undulate ribs	An abnormally wavy surface or edge of the ribs.	UMLS:C1969185	hp.json	Wavy ribs	http://purl.obolibrary.org/obo/HP_0010561							
HP:0010562	biolink:PhenotypicFeature	Keloids		MEDDRA:10023330|MSH:D007627|SNOMEDCT_US:33659008|SNOMEDCT_US:58405006|UMLS:C0022548	hp.json		http://purl.obolibrary.org/obo/HP_0010562							hposlim_core
HP:0010564	biolink:PhenotypicFeature	Bifid epiglottis	A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.	SNOMEDCT_US:232412004|UMLS:C0339864	hp.json		http://purl.obolibrary.org/obo/HP_0010564							
HP:0010565	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the Epiglottis	This term applies if the Epiglottis is absent or hypoplastic.	UMLS:C4023790	hp.json		http://purl.obolibrary.org/obo/HP_0010565							
HP:0010566	biolink:PhenotypicFeature	Hamartoma	A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.	MSH:D006222|SNOMEDCT_US:400006008|SNOMEDCT_US:51398009|UMLS:C0018552	hp.json		http://purl.obolibrary.org/obo/HP_0010566							
HP:0010567	biolink:PhenotypicFeature	Y-shaped metatarsals	Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.	UMLS:C4023789	hp.json	Y-shaped long bone of foot	http://purl.obolibrary.org/obo/HP_0010567							
HP:0010568	biolink:PhenotypicFeature	Hamartoma of the eye	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.	UMLS:C4023788	hp.json		http://purl.obolibrary.org/obo/HP_0010568							
HP:0010569	biolink:PhenotypicFeature	Elevated 7-dehydrocholesterol	Elevated 7-dehydrocholesterol levels.	UMLS:C1849185	hp.json	Elevated levels of cholesta-5,7-dien-3beta-ol	http://purl.obolibrary.org/obo/HP_0010569							
HP:0010570	biolink:PhenotypicFeature	Low maternal serum alpha-fetoprotein	An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.	UMLS:C4023787	hp.json	Low maternal serum alpha-fetoprotein	http://purl.obolibrary.org/obo/HP_0010570							
HP:0010571	biolink:PhenotypicFeature	Elevated levels of phytanic acid	An abnormal elevation of phytanic acid.	UMLS:C4023786	hp.json	Elevated levels of phytanic acid	http://purl.obolibrary.org/obo/HP_0010571							
HP:0010574	biolink:PhenotypicFeature	Abnormality of the epiphysis of the femoral head	Any abnormality of the proximal epiphysis of the femur.	UMLS:C4021252	hp.json	Abnormality of the end part of the innermost thighbone|Abnormality of the proximal femoral epiphysis	http://purl.obolibrary.org/obo/HP_0010574							
HP:0010575	biolink:PhenotypicFeature	Dysplasia of the femoral head	The presence of developmental dysplasia of the femoral head.	UMLS:C4021251|UMLS:C4280377	hp.json	Abnormality of femoral head development|Dysplastic femoral head	http://purl.obolibrary.org/obo/HP_0010575							
HP:0010576	biolink:PhenotypicFeature	Intracranial cystic lesion	A cystic lesion originating within the brain.	UMLS:C4021250	hp.json	Cerebral cystic malformation	http://purl.obolibrary.org/obo/HP_0010576							
HP:0010577	biolink:PhenotypicFeature	Absent epiphyses		UMLS:C4021862	hp.json	Absent end part of bone	http://purl.obolibrary.org/obo/HP_0010577							
HP:0010578	biolink:PhenotypicFeature	Bracket epiphyses		UMLS:C4023785	hp.json	Bracket shaped end part of long bone	http://purl.obolibrary.org/obo/HP_0010578							
HP:0010579	biolink:PhenotypicFeature	Cone-shaped epiphysis	Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.	UMLS:C1865037	hp.json	Cone-shaped end part of bone|Cone-shaped epiphyses	http://purl.obolibrary.org/obo/HP_0010579							
HP:0010580	biolink:PhenotypicFeature	Enlarged epiphyses	Increased size of epiphyses.	UMLS:C1833328	hp.json	Large end part of bone|Large epiphyses|Widened, distorted epiphyses	http://purl.obolibrary.org/obo/HP_0010580							
HP:0010582	biolink:PhenotypicFeature	Irregular epiphyses	An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.	UMLS:C1846449	hp.json	Irregular end part of long bone	http://purl.obolibrary.org/obo/HP_0010582							
HP:0010583	biolink:PhenotypicFeature	Ivory epiphyses	Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	UMLS:C1856911	hp.json	Increased bone density in end part of bone|Epiphyseal sclerosis	http://purl.obolibrary.org/obo/HP_0010583							
HP:0010584	biolink:PhenotypicFeature	Pseudoepiphyses		UMLS:C1841685	hp.json		http://purl.obolibrary.org/obo/HP_0010584							
HP:0010585	biolink:PhenotypicFeature	Small epiphyses	Reduction in the size or volume of epiphyses.	UMLS:C1846803	hp.json	Small end part of bone	http://purl.obolibrary.org/obo/HP_0010585							
HP:0010587	biolink:PhenotypicFeature	Triangular epiphyses		UMLS:C4023784	hp.json	Triangular end part of bone	http://purl.obolibrary.org/obo/HP_0010587							
HP:0010588	biolink:PhenotypicFeature	Premature epimetaphyseal fusion	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	SNOMEDCT_US:89493005|UMLS:C0151628	hp.json	Premature closure of epiphyses	http://purl.obolibrary.org/obo/HP_0010588							
HP:0010590	biolink:PhenotypicFeature	Abnormality of the distal femoral epiphysis	Any abnormality of the distal epiphysis of the femur.	UMLS:C4023783	hp.json	Abnormality of the end part of the outermost thighbone	http://purl.obolibrary.org/obo/HP_0010590							
HP:0010591	biolink:PhenotypicFeature	Abnormality of the proximal tibial epiphysis	Any abnormality of the proximal epiphysis of the tibia.	UMLS:C4023782	hp.json	Abnormality of the end part of innermost shankbone|Abnormality of the end part of innermost shinbone	http://purl.obolibrary.org/obo/HP_0010591							
HP:0010592	biolink:PhenotypicFeature	Abnormality of the distal tibial epiphysis		UMLS:C4023781	hp.json	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	biolink:PhenotypicFeature	Abnormality of fibular epiphyses		UMLS:C4023780	hp.json	Abnormality of the end part of the calf bone	http://purl.obolibrary.org/obo/HP_0010593							
HP:0010594	biolink:PhenotypicFeature	Abnormality of the proximal fibular epiphysis	Any abnormality of the proximal epiphysis of the fibula.	UMLS:C4023779	hp.json	Abnormality of the innermost end part of calf bone	http://purl.obolibrary.org/obo/HP_0010594							
HP:0010595	biolink:PhenotypicFeature	Abnormality of the distal fibular epiphysis	Any abnormality of the distal epiphysis of the fibula.	UMLS:C4023778	hp.json	Abnormality of the outermost end part of calf bone	http://purl.obolibrary.org/obo/HP_0010595							
HP:0010596	biolink:PhenotypicFeature	Abnormality of the proximal radial epiphysis	Any abnormality of the proximal epiphysis of the radius.	UMLS:C4023777	hp.json		http://purl.obolibrary.org/obo/HP_0010596							
HP:0010597	biolink:PhenotypicFeature	Abnormality of the distal radial epiphysis	Any abnormality of the distal epiphysis of the radius.	UMLS:C4023776	hp.json		http://purl.obolibrary.org/obo/HP_0010597							
HP:0010598	biolink:PhenotypicFeature	Abnormality of the proximal humeral epiphysis	Any abnormality of the proximal epiphysis of the humerus.	UMLS:C4023775	hp.json	Abnormality of the end part of the innermost long bone in upper arm	http://purl.obolibrary.org/obo/HP_0010598							
HP:0010599	biolink:PhenotypicFeature	Abnormality of the distal humeral epiphysis	Any abnormality of the distal epiphysis of the humerus.	UMLS:C4023774	hp.json	Abnormality of the end part of the outermost long bone in upper arm	http://purl.obolibrary.org/obo/HP_0010599							
HP:0010600	biolink:PhenotypicFeature	Abnormality of the distal ulnar epiphysis	Any abnormality of the distal epiphysis of the ulna.	UMLS:C4023773	hp.json		http://purl.obolibrary.org/obo/HP_0010600							
HP:0010601	biolink:PhenotypicFeature	Abnormality of the proximal ulnar epiphysis	Any abnormality of the proximal epiphysis of the ulna.	UMLS:C4023772	hp.json		http://purl.obolibrary.org/obo/HP_0010601							
HP:0010602	biolink:PhenotypicFeature	Type 2 muscle fiber predominance	An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).	UMLS:C3277187	hp.json	Type 2 muscle fibre predominance|Type II muscle fibre predominance|Type II muscle fiber predominance	http://purl.obolibrary.org/obo/HP_0010602							
HP:0010603	biolink:PhenotypicFeature	Odontogenic keratocysts of the jaw	A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.	UMLS:C1708604	hp.json	Keratocystic odontogenic tumour|Keratocystic odontogenic tumor|Keratocysts of the jaw	http://purl.obolibrary.org/obo/HP_0010603							
HP:0010604	biolink:PhenotypicFeature	Cyst of the eyelid		SNOMEDCT_US:248514008|SNOMEDCT_US:301913002|SNOMEDCT_US:46210008|UMLS:C0155218|UMLS:C0424844|UMLS:C0578590	hp.json	Lesion of the eyelid|Cyst of the eyelid|Eyelid bump|Eyelid mass	http://purl.obolibrary.org/obo/HP_0010604							
HP:0010605	biolink:PhenotypicFeature	Chalazion	A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.	MSH:D017043|SNOMEDCT_US:1482004|UMLS:C0007933	hp.json	Meibomian gland lipogranuloma	http://purl.obolibrary.org/obo/HP_0010605							
HP:0010606	biolink:PhenotypicFeature	Hordeolum	An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.	MSH:D006726|SNOMEDCT_US:1489008|SNOMEDCT_US:397513003|UMLS:C0019917|UMLS:C4280376	hp.json	Stye of eyelid|Red bump on eyelid	http://purl.obolibrary.org/obo/HP_0010606							
HP:0010607	biolink:PhenotypicFeature	Hordeolum externum	Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.	SNOMEDCT_US:1489008|UMLS:C0019919	hp.json		http://purl.obolibrary.org/obo/HP_0010607							
HP:0010608	biolink:PhenotypicFeature	Hordeolum internum	Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.	SNOMEDCT_US:414521009|UMLS:C0085690|UMLS:C4280375	hp.json	Stye of inner eyelid|Red bump on inner eyelid	http://purl.obolibrary.org/obo/HP_0010608							
HP:0010609	biolink:PhenotypicFeature	Skin tags	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.	SNOMEDCT_US:201091002|SNOMEDCT_US:31069005|SNOMEDCT_US:80801001|UMLS:C0037293	hp.json	Acrochorda	http://purl.obolibrary.org/obo/HP_0010609							
HP:0010610	biolink:PhenotypicFeature	Palmar pits		SNOMEDCT_US:247449001|UMLS:C0423776	hp.json		http://purl.obolibrary.org/obo/HP_0010610							
HP:0010612	biolink:PhenotypicFeature	Plantar pits	The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.	UMLS:C1852301	hp.json		http://purl.obolibrary.org/obo/HP_0010612							
HP:0010614	biolink:PhenotypicFeature	Fibroma	Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.	MSH:D005350|NCIT:C3041|SNOMEDCT_US:112682009|SNOMEDCT_US:424568000|UMLS:C0016045	hp.json		http://purl.obolibrary.org/obo/HP_0010614							
HP:0010615	biolink:PhenotypicFeature	Angiofibromas	Angiofibroma consist of many often dilated vessels.	MSH:D018322|NCIT:C3799|SNOMEDCT_US:302857002|SNOMEDCT_US:60392001|UMLS:C0206731	hp.json		http://purl.obolibrary.org/obo/HP_0010615							
HP:0010616	biolink:PhenotypicFeature	Lung fibroma	The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.	NCIT:C3041|SNOMEDCT_US:707387004|UMLS:C1334444	hp.json		http://purl.obolibrary.org/obo/HP_0010616							
HP:0010617	biolink:PhenotypicFeature	Cardiac fibroma	A fibroma of the heart.	NCIT:C3041|UMLS:C1096654	hp.json		http://purl.obolibrary.org/obo/HP_0010617							
HP:0010618	biolink:PhenotypicFeature	Ovarian fibroma	The presence of a fibroma of the ovary.	MSH:C562391|NCIT:C3041|SNOMEDCT_US:254865006|UMLS:C0149951	hp.json		http://purl.obolibrary.org/obo/HP_0010618							
HP:0010619	biolink:PhenotypicFeature	Fibroadenoma of the breast	A benign biphasic tumor of the breast with epithelial and stromal components.	NCIT:C3744|SNOMEDCT_US:254845004|UMLS:C0178421	hp.json	Breast fibroadenoma|Breast fibroadenomas|Breast fibroadenosis|Fibroadenosis - breast|Fibroadenosis of breast	http://purl.obolibrary.org/obo/HP_0010619							
HP:0010620	biolink:PhenotypicFeature	Malar prominence	Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.	UMLS:C1858732|UMLS:C4280374	hp.json	Malar excess|Malar hyperplasia|Prominent malar region|Hyperplasia of malar bones	http://purl.obolibrary.org/obo/HP_0010620							hposlim_core
HP:0010621	biolink:PhenotypicFeature	Cutaneous syndactyly of toes	A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.	UMLS:C1834737	hp.json	Webbed skin of toes|Cutaneous syndactyly of feet|soft tissue syndactyly of toes	http://purl.obolibrary.org/obo/HP_0010621							hposlim_core
HP:0010622	biolink:PhenotypicFeature	Neoplasm of the skeletal system	A tumor (abnormal growth of tissue) of the skeleton.	NCIT:C3262|SNOMEDCT_US:442868003|UMLS:C2732838|UMLS:C4020771	hp.json	Skeletal tumor|Skeletal tumour|Neoplasia of the skeletal system|Bone neoplasm	http://purl.obolibrary.org/obo/HP_0010622							
HP:0010624	biolink:PhenotypicFeature	Aplastic/hypoplastic toenail	Absence or underdevelopment of the toenail.	UMLS:C1856749	hp.json	Absent/small toenails|Absent/underdeveloped toenails|Aplastic/hypoplastic toenails|Hypoplastic-absent toenails	http://purl.obolibrary.org/obo/HP_0010624							
HP:0010625	biolink:PhenotypicFeature	Anterior pituitary dysgenesis	Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.	MSH:D010903|SNOMEDCT_US:62818001|UMLS:C0032008|UMLS:C4023771	hp.json	Adenohypophysis	http://purl.obolibrary.org/obo/HP_0010625							
HP:0010626	biolink:PhenotypicFeature	Anterior pituitary agenesis	Absence of the anterior pituitary gland resulting from a developmental defect.	UMLS:C4021249	hp.json	Absent pituitary gland|Aplasia of the pituitary gland	http://purl.obolibrary.org/obo/HP_0010626							
HP:0010627	biolink:PhenotypicFeature	Anterior pituitary hypoplasia	Underdevelopment of the anterior pituitary gland.	UMLS:C0948740|UMLS:C1859775	hp.json	Underdeveloped pituitary gland|Hypoplasia of the pituitary gland	http://purl.obolibrary.org/obo/HP_0010627							
HP:0010628	biolink:PhenotypicFeature	Facial palsy	Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.	MSH:D005158|MSH:D020330|SNOMEDCT_US:193093009|SNOMEDCT_US:95666008|UMLS:C0376175|UMLS:C0427055|UMLS:C1858719	hp.json	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							hposlim_core
HP:0010629	biolink:PhenotypicFeature	Abnormal morphology of the cortex of the humerus	Any abnormality affecting the cortex of the humerus.	UMLS:C4023770	hp.json		http://purl.obolibrary.org/obo/HP_0010629							
HP:0010630	biolink:PhenotypicFeature	Abnormality of metatarsal epiphysis	Any abnormality of a metatarsal bone epiphysis.	UMLS:C4021248	hp.json	Abnormality of end part of long bone of foot|Abnormality of the epiphyses of the metatarsals	http://purl.obolibrary.org/obo/HP_0010630							
HP:0010631	biolink:PhenotypicFeature	Abnormality of the epiphyses of the feet	Any abnormality of the epiphyses of the feet.	UMLS:C4023769	hp.json	Abnormality of the end part of the foot bone	http://purl.obolibrary.org/obo/HP_0010631							
HP:0010632	biolink:PhenotypicFeature	Total anosmia	Inability to detect any qualitative olfactory sensation.	UMLS:C4023768	hp.json		http://purl.obolibrary.org/obo/HP_0010632							
HP:0010633	biolink:PhenotypicFeature	Partial anosmia	Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).	UMLS:C4023767	hp.json		http://purl.obolibrary.org/obo/HP_0010633							
HP:0010634	biolink:PhenotypicFeature	Total hyposmia	Reduced ability to detect any qualitative olfactory sensation.	UMLS:C4023766	hp.json		http://purl.obolibrary.org/obo/HP_0010634							
HP:0010635	biolink:PhenotypicFeature	Partial hyposmia	Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).	UMLS:C4023765	hp.json		http://purl.obolibrary.org/obo/HP_0010635							
HP:0010636	biolink:PhenotypicFeature	Schizencephaly	The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.	MSH:D065707|SNOMEDCT_US:253159001|SNOMEDCT_US:38353004|UMLS:C0266484	hp.json		http://purl.obolibrary.org/obo/HP_0010636							
HP:0010637	biolink:PhenotypicFeature	Conjunctival amyloidosis	A form of amyloidosis that affects the conjunctiva.	SNOMEDCT_US:59017008|UMLS:C0268402	hp.json		http://purl.obolibrary.org/obo/HP_0010637							
HP:0010638	biolink:PhenotypicFeature	Elevated alkaline phosphatase of hepatic origin	An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	UMLS:C4023764	hp.json	Elevated ALP of hepatic origin	http://purl.obolibrary.org/obo/HP_0010638							
HP:0010639	biolink:PhenotypicFeature	Elevated alkaline phosphatase of bone origin	An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	UMLS:C1833667	hp.json	Elevated ALP of bone origin|Elevated alkaline phosphatase of bone origin|Increased serum bone-specific alkaline phosphatase	http://purl.obolibrary.org/obo/HP_0010639							
HP:0010640	biolink:PhenotypicFeature	Abnormality of the nasal cavity	Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).	UMLS:C4023763	hp.json		http://purl.obolibrary.org/obo/HP_0010640							
HP:0010641	biolink:PhenotypicFeature	Abnormality of the midnasal cavity	Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.	UMLS:C4021861	hp.json		http://purl.obolibrary.org/obo/HP_0010641							
HP:0010643	biolink:PhenotypicFeature	Midnasal atresia	Absence or abnormal closure of the midnasal cavity.	UMLS:C4023762	hp.json		http://purl.obolibrary.org/obo/HP_0010643							
HP:0010644	biolink:PhenotypicFeature	Midnasal stenosis	Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.	UMLS:C1840238	hp.json	Midnasal atresia or stenosis	http://purl.obolibrary.org/obo/HP_0010644							
HP:0010645	biolink:PhenotypicFeature	Aplasia of the distal phalanges of the toes	Absence of the distal phalanges of the toes.	UMLS:C4023761	hp.json	Absent outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0010645							
HP:0010646	biolink:PhenotypicFeature	Cervical spine instability	An abnormal lack of stability of the cervical spine.	SNOMEDCT_US:202821008|UMLS:C0410652	hp.json		http://purl.obolibrary.org/obo/HP_0010646							
HP:0010647	biolink:PhenotypicFeature	Abnormal elasticity of skin	Any abnormal increase or reduction in skin elasticity.	UMLS:C4023760	hp.json		http://purl.obolibrary.org/obo/HP_0010647							
HP:0010648	biolink:PhenotypicFeature	Dermal translucency	An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.	UMLS:C1836646	hp.json	Translucent skin	http://purl.obolibrary.org/obo/HP_0010648							hposlim_core
HP:0010649	biolink:PhenotypicFeature	Flat nasal alae	An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).	UMLS:C4023759	hp.json	Depressed nasal alae|Flat nasal alar cartilage	http://purl.obolibrary.org/obo/HP_0010649							
HP:0010650	biolink:PhenotypicFeature	Hypoplasia of the premaxilla	An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.	UMLS:C4020770|UMLS:C4072878	hp.json	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							hposlim_core
HP:0010651	biolink:PhenotypicFeature	Abnormal meningeal morphology	An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.	UMLS:C4023758	hp.json	Abnormality of the meninges	http://purl.obolibrary.org/obo/HP_0010651							
HP:0010652	biolink:PhenotypicFeature	Abnormal dura mater morphology	An abnormality of the Dura mater.	UMLS:C4023757	hp.json	Abnormality of the dura mater	http://purl.obolibrary.org/obo/HP_0010652							
HP:0010653	biolink:PhenotypicFeature	Abnormality of the falx cerebri	An abnormality of the Falx cerebri.	UMLS:C4021247	hp.json	Abnormality of the cerebral falx	http://purl.obolibrary.org/obo/HP_0010653							
HP:0010654	biolink:PhenotypicFeature	Aplasia of the falx cerebri	A developmental defect characterized by aplasia of the Falx cerebri.	UMLS:C4023756	hp.json	Absent cerebral falx	http://purl.obolibrary.org/obo/HP_0010654							
HP:0010655	biolink:PhenotypicFeature	Epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.	SNOMEDCT_US:360507004|UMLS:C1859126	hp.json	Speckled calcifications in end part of bone|Epiphyseal punctate calcifications|Stippled epiphyses|Stippling of the epiphyses	http://purl.obolibrary.org/obo/HP_0010655							
HP:0010656	biolink:PhenotypicFeature	Abnormal epiphyseal ossification	An abnormality of the formation and mineralization of an epiphysis.	UMLS:C4021246	hp.json	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							
HP:0010657	biolink:PhenotypicFeature	Patchy reduction of bone mineral density	Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4023755	hp.json		http://purl.obolibrary.org/obo/HP_0010657							
HP:0010658	biolink:PhenotypicFeature	Patchy changes of bone mineral density	Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).	UMLS:C4023754	hp.json		http://purl.obolibrary.org/obo/HP_0010658							
HP:0010659	biolink:PhenotypicFeature	Patchy variation in bone mineral density	Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.	UMLS:C4021245	hp.json	Patchy increased and decreased bone mineral density	http://purl.obolibrary.org/obo/HP_0010659							
HP:0010660	biolink:PhenotypicFeature	Abnormal hand bone ossification	An abnormality of the formation and mineralization of any bone of the skeleton of hand.	UMLS:C4021244	hp.json	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							
HP:0010661	biolink:PhenotypicFeature	Absence of the third cerebral ventricle	A developmental defect characterized by the absence of the third ventricle.	UMLS:C4023753	hp.json		http://purl.obolibrary.org/obo/HP_0010661							
HP:0010662	biolink:PhenotypicFeature	Abnormality of the diencephalon	An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.	UMLS:C4023752	hp.json		http://purl.obolibrary.org/obo/HP_0010662							
HP:0010663	biolink:PhenotypicFeature	Abnormality of thalamus morphology	An abnormality of the thalamus.	UMLS:C4021243	hp.json	Abnormal shape of thalamus|Abnormality of the thalamus	http://purl.obolibrary.org/obo/HP_0010663							
HP:0010664	biolink:PhenotypicFeature	Fusion of the left and right thalami	A developmental defect characterized by fusion of the left and right halves of the thalamus.	UMLS:C1834930|UMLS:C4020769	hp.json	Fused thalami|Undivided thalami|Fusion of thamali	http://purl.obolibrary.org/obo/HP_0010664							
HP:0010665	biolink:PhenotypicFeature	Bilateral coxa valga	The presence of bilateral coxa valga.	UMLS:C3810018	hp.json		http://purl.obolibrary.org/obo/HP_0010665							
HP:0010666	biolink:PhenotypicFeature	Hypoplasia of the anterior nasal spine	Underdevelopment of the anterior nasal spine of maxilla.	UMLS:C4023751|UMLS:C4280372|UMLS:C4280373	hp.json	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							
HP:0010667	biolink:PhenotypicFeature	Aplasia of the maxilla	A congenital defect characterized by absence of the Maxilla.	UMLS:C4023750|UMLS:C4280371	hp.json	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							
HP:0010668	biolink:PhenotypicFeature	Abnormality of the zygomatic bone	An abnormality of the zygomatic bone.	UMLS:C4023749	hp.json	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							
HP:0010669	biolink:PhenotypicFeature	Hypoplasia of the zygomatic bone	Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.	UMLS:C4021242|UMLS:C4072879|UMLS:C4280368|UMLS:C4280369|UMLS:C4280370	hp.json	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							
HP:0010672	biolink:PhenotypicFeature	Abnormality of the third metatarsal bone	An abnormality of the third metatarsal bone.	UMLS:C4023748	hp.json	Abnormality of the 3rd long bone of foot	http://purl.obolibrary.org/obo/HP_0010672							
HP:0010674	biolink:PhenotypicFeature	Abnormality of the curvature of the vertebral column	The presence of an abnormal curvature of the vertebral column.	UMLS:C4023747	hp.json	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							
HP:0010675	biolink:PhenotypicFeature	Abnormal foot bone ossification	An abnormality of the formation and mineralization of any bone of the skeleton of foot.	UMLS:C4020768|UMLS:C4021241|UMLS:C4280367	hp.json	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							
HP:0010676	biolink:PhenotypicFeature	Mechanical ileus		SNOMEDCT_US:46420000|UMLS:C0400843	hp.json		http://purl.obolibrary.org/obo/HP_0010676							
HP:0010677	biolink:PhenotypicFeature	Enuresis nocturna	Enuresis occurring during sleeping hours.	MSH:D053206|SNOMEDCT_US:8009008|UMLS:C0270327	hp.json	Nocturnal enuresis	http://purl.obolibrary.org/obo/HP_0010677							
HP:0010678	biolink:PhenotypicFeature	Enuresis diurna	Enuresis occurring during waking hours of the day.	UMLS:C4023746	hp.json		http://purl.obolibrary.org/obo/HP_0010678							
HP:0010679	biolink:PhenotypicFeature	Elevated tissue non-specific alkaline phosphatase	An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	UMLS:C4021240	hp.json	Elevated tissue non-specific ALP|Elevated alkaline phosphatase, liver/bone/kidney	http://purl.obolibrary.org/obo/HP_0010679							
HP:0010680	biolink:PhenotypicFeature	Elevated alkaline phosphatase of renal origin	An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	UMLS:C4023745	hp.json	Elevated ALP of renal origin	http://purl.obolibrary.org/obo/HP_0010680							
HP:0010681	biolink:PhenotypicFeature	Elevated intestinal alkaline phosphatase	An abnormally increased level of alkaline phosphatase, intestinal type in the blood.	UMLS:C4023744	hp.json	Elevated intestinal ALP	http://purl.obolibrary.org/obo/HP_0010681							
HP:0010682	biolink:PhenotypicFeature	Elevated placental alkaline phosphatase	An abnormally increased level of alkaline phosphatase, placental type in the blood.	UMLS:C4023743	hp.json	Elevated placental ALP	http://purl.obolibrary.org/obo/HP_0010682							
HP:0010683	biolink:PhenotypicFeature	Low tissue non-specific alkaline phosphatase	An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	UMLS:C4023742	hp.json	Low tissue non-specific ALP	http://purl.obolibrary.org/obo/HP_0010683							
HP:0010684	biolink:PhenotypicFeature	Low alkaline phosphatase of bone origin	An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.	UMLS:C4023741	hp.json	Low ALP of bone origin	http://purl.obolibrary.org/obo/HP_0010684							
HP:0010685	biolink:PhenotypicFeature	Low alkaline phosphatase of renal origin	An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.	UMLS:C4023740	hp.json	Low ALP of renal origin	http://purl.obolibrary.org/obo/HP_0010685							
HP:0010686	biolink:PhenotypicFeature	Low alkaline phosphatase of hepatic origin	An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.	UMLS:C4023739	hp.json	Low ALP of hepatic origin	http://purl.obolibrary.org/obo/HP_0010686							
HP:0010687	biolink:PhenotypicFeature	Low intestinal alkaline phosphatase	An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.	UMLS:C4023738	hp.json	Low intestinal ALP	http://purl.obolibrary.org/obo/HP_0010687							
HP:0010688	biolink:PhenotypicFeature	Low placental alkaline phosphatase	An abnormally reduced level of alkaline phosphatase, placental type in the blood.	UMLS:C4023737	hp.json	Low placental ALP	http://purl.obolibrary.org/obo/HP_0010688							
HP:0010689	biolink:PhenotypicFeature	Mirror image polydactyly	A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes.	MSH:C535689|SNOMEDCT_US:715440003|UMLS:C1851100	hp.json	Mirror image duplication of digits	http://purl.obolibrary.org/obo/HP_0010689							
HP:0010690	biolink:PhenotypicFeature	Mirror image hand polydactyly	Mirror image duplication of digits affecting the hands only.	UMLS:C4021239	hp.json	Mirror image dupliction of fingers	http://purl.obolibrary.org/obo/HP_0010690							hposlim_core
HP:0010691	biolink:PhenotypicFeature	Mirror image foot polydactyly	Mirror image duplication of digits affecting the feet.	UMLS:C4021238	hp.json	Mirror image dupliction of toes	http://purl.obolibrary.org/obo/HP_0010691							
HP:0010692	biolink:PhenotypicFeature	2-5 finger syndactyly	Syndactyly with fusion of fingers two to five.	UMLS:C4023736	hp.json	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							
HP:0010693	biolink:PhenotypicFeature	Pulverulent cataract	A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.	MSH:C563426|UMLS:C1833118	hp.json	Pulverulent cataract	http://purl.obolibrary.org/obo/HP_0010693							
HP:0010694	biolink:PhenotypicFeature	Lamellar pulverulent cataract	A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.	UMLS:C4023735	hp.json		http://purl.obolibrary.org/obo/HP_0010694							
HP:0010695	biolink:PhenotypicFeature	Sutural cataract	A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.	UMLS:C4023734	hp.json		http://purl.obolibrary.org/obo/HP_0010695							
HP:0010696	biolink:PhenotypicFeature	Polar cataract	A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.	UMLS:C2025392	hp.json		http://purl.obolibrary.org/obo/HP_0010696							
HP:0010697	biolink:PhenotypicFeature	Anterior pyramidal cataract	A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.	UMLS:C1392099	hp.json	Pyramidal cataract	http://purl.obolibrary.org/obo/HP_0010697							
HP:0010698	biolink:PhenotypicFeature	Nuclear pulverulent cataract	A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.	UMLS:C4021237	hp.json	Central pulverulent cataract|Coppock-like cataract|Pulverulent nuclear cataract|cataracta pulverulenta centralis	http://purl.obolibrary.org/obo/HP_0010698							
HP:0010699	biolink:PhenotypicFeature	Triangular nuclear cataract	A nuclear cataract with a triangular form.	UMLS:C4023733	hp.json		http://purl.obolibrary.org/obo/HP_0010699							
HP:0010700	biolink:PhenotypicFeature	obsolete Total cataract			hp.json		http://purl.obolibrary.org/obo/HP_0010700							
HP:0010701	biolink:PhenotypicFeature	Abnormal immunoglobulin level	An abnormal deviation from normal levels of immunoglobulins in blood.	UMLS:C1855755	hp.json	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							
HP:0010702	biolink:PhenotypicFeature	Increased circulating antibody level	An increased level of gamma globulin (immunoglobulin) in the blood.	MSH:D006942|SNOMEDCT_US:127388009|SNOMEDCT_US:129646001|UMLS:C0020455|UMLS:C0151669|UMLS:C0541985|UMLS:C1306857|UMLS:C2048011	hp.json	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							
HP:0010704	biolink:PhenotypicFeature	1-2 finger syndactyly	Syndactyly with fusion of fingers one and two.	UMLS:C4023732	hp.json	Webbed 1st-2nd finger|Webbed thumb and index finger	http://purl.obolibrary.org/obo/HP_0010704							
HP:0010705	biolink:PhenotypicFeature	4-5 finger syndactyly	Syndactyly with fusion of fingers four and five.	UMLS:C4023731	hp.json	Webbed 4th-5th finger	http://purl.obolibrary.org/obo/HP_0010705							
HP:0010706	biolink:PhenotypicFeature	1-3 finger syndactyly	Syndactyly with fusion of fingers one to three.	UMLS:C4023730	hp.json	Webbed 1st-3rd finger	http://purl.obolibrary.org/obo/HP_0010706							
HP:0010707	biolink:PhenotypicFeature	1-4 finger syndactyly	Syndactyly with fusion of fingers one to four.	UMLS:C4023729	hp.json	Webbed 1st-4th finger	http://purl.obolibrary.org/obo/HP_0010707							
HP:0010708	biolink:PhenotypicFeature	1-5 finger syndactyly	Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).	UMLS:C4023728	hp.json	Webbed 1st-5th fingers|Webbed 1-5 fingers	http://purl.obolibrary.org/obo/HP_0010708							
HP:0010709	biolink:PhenotypicFeature	2-4 finger syndactyly	Syndactyly with fusion of the fingers two to four.	UMLS:C4021236	hp.json	Webbed index through ring fingers|Syndactyly of second to fourth fingers	http://purl.obolibrary.org/obo/HP_0010709							
HP:0010710	biolink:PhenotypicFeature	3-5 finger syndactyly	Syndactyly with fusion of fingers three to five.	UMLS:C4023727	hp.json	Webbed third, fourth and fifth toes	http://purl.obolibrary.org/obo/HP_0010710							
HP:0010711	biolink:PhenotypicFeature	1-2 toe syndactyly	Syndactyly with fusion of toes one and two.	UMLS:C4023726	hp.json	Webbed first and second toes|Webbed 1st-2nd toes	http://purl.obolibrary.org/obo/HP_0010711							
HP:0010712	biolink:PhenotypicFeature	1-4 toe syndactyly	Syndactyly with fusion of toes one to four.	UMLS:C4023725	hp.json	Webbed first through fourth toes	http://purl.obolibrary.org/obo/HP_0010712							
HP:0010713	biolink:PhenotypicFeature	1-5 toe syndactyly	Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).	UMLS:C4021235	hp.json	Webbed 1st-5th toes|Syndactyly of all toes	http://purl.obolibrary.org/obo/HP_0010713							
HP:0010714	biolink:PhenotypicFeature	2-4 toe syndactyly	Syndactyly with fusion of toes two to four.	UMLS:C4021234	hp.json	Webbed 2nd-4th toes|Syndactyly of toes 2, 3 and 4|Syndactyly toes 2-4	http://purl.obolibrary.org/obo/HP_0010714							
HP:0010715	biolink:PhenotypicFeature	2-5 toe syndactyly	Syndactyly with fusion of toes two to five.	UMLS:C4023724	hp.json	Webbed 2nd-5th toes	http://purl.obolibrary.org/obo/HP_0010715							
HP:0010716	biolink:PhenotypicFeature	3-5 toe syndactyly	Syndactyly with fusion of toes three to five.	UMLS:C4023723	hp.json	Webbed 3rd-5th toes	http://purl.obolibrary.org/obo/HP_0010716							
HP:0010717	biolink:PhenotypicFeature	Osseous syndactyly of toes	Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".	SNOMEDCT_US:32113001|SNOMEDCT_US:38859008|UMLS:C0158738	hp.json	Osseous syndactyly of the toes	http://purl.obolibrary.org/obo/HP_0010717							hposlim_core
HP:0010719	biolink:PhenotypicFeature	Abnormality of hair texture	An abnormality of the texture of the hair.	UMLS:C4023722|UMLS:C4072880|UMLS:C4072881|UMLS:C4073290	hp.json	Abnormality of hair texture|Abnormality of hair consistency|Abnormality of hair curl pattern|Abnormality of hair volume	http://purl.obolibrary.org/obo/HP_0010719							
HP:0010720	biolink:PhenotypicFeature	Abnormal hair pattern	An abnormality of the distribution of hair growth.	UMLS:C4023721	hp.json	Abnormal distribution of hair|Abnormal hair pattern	http://purl.obolibrary.org/obo/HP_0010720							
HP:0010721	biolink:PhenotypicFeature	Abnormal hair whorl	An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).	UMLS:C3280303	hp.json	Abnormal hair whorl|Abnormal hair whorls|Abnormal whorl of hair	http://purl.obolibrary.org/obo/HP_0010721							
HP:0010722	biolink:PhenotypicFeature	Asymmetry of the ears	An asymmetriy, i.e., difference in size, shape or position between the left and right ear.	UMLS:C1168239	hp.json	Asymmetric ears	http://purl.obolibrary.org/obo/HP_0010722							hposlim_core
HP:0010723	biolink:PhenotypicFeature	Cystic lesions of the pinnae		UMLS:C4023720	hp.json		http://purl.obolibrary.org/obo/HP_0010723							
HP:0010724	biolink:PhenotypicFeature	Advanced pneumatization of the mastoid process	An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.	UMLS:C4021828	hp.json		http://purl.obolibrary.org/obo/HP_0010724							hposlim_core
HP:0010726	biolink:PhenotypicFeature	Prominent corneal nerve fibers	Abnormal prominence of the corneal nerve fibers.	UMLS:C4021233	hp.json	Prominent corneal nerve fibres|Visible corneal nerve fibres|Visible corneal nerve fibers	http://purl.obolibrary.org/obo/HP_0010726							
HP:0010727	biolink:PhenotypicFeature	Spontaneous rupture of the globe	Rupture of the eyeball not due to trauma.	UMLS:C4023719	hp.json		http://purl.obolibrary.org/obo/HP_0010727							hposlim_core
HP:0010728	biolink:PhenotypicFeature	Aplasia of the retina	A developmental defect characterized by absence of the retina.	UMLS:C4023718	hp.json	Absent retina	http://purl.obolibrary.org/obo/HP_0010728							
HP:0010729	biolink:PhenotypicFeature	Cherry red spot of the macula	Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.	UMLS:C2216370	hp.json	Macular cherry red spot	http://purl.obolibrary.org/obo/HP_0010729							
HP:0010730	biolink:PhenotypicFeature	Double eyebrow	This may present as a partial or complete duplication of the eyebrows.	SNOMEDCT_US:253209004|UMLS:C0431449	hp.json	Double eyebrow|Duplication of eyebrow	http://purl.obolibrary.org/obo/HP_0010730							hposlim_core
HP:0010731	biolink:PhenotypicFeature	Extension of eyebrows towards upper eyelid	The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.	UMLS:C4023717	hp.json	Extension of eyebrows towards upper eyelid	http://purl.obolibrary.org/obo/HP_0010731							
HP:0010732	biolink:PhenotypicFeature	Nodular changes affecting the eyelids	Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.	UMLS:C4023716	hp.json	Eyelid nodules	http://purl.obolibrary.org/obo/HP_0010732							
HP:0010733	biolink:PhenotypicFeature	Naevus flammeus of the eyelid	Naevus flammeus localised in the skin of the eyelid.	UMLS:C1854409	hp.json	Port-wine stain on eyelid	http://purl.obolibrary.org/obo/HP_0010733							
HP:0010734	biolink:PhenotypicFeature	Fibrous dysplasia of the bones	Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).	MSH:D005357|SNOMEDCT_US:10623005|UMLS:C0016063	hp.json		http://purl.obolibrary.org/obo/HP_0010734							
HP:0010735	biolink:PhenotypicFeature	Polyostotic fibrous dysplasia	Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.	MSH:D005359|SNOMEDCT_US:36517007|UMLS:C0016065	hp.json		http://purl.obolibrary.org/obo/HP_0010735							
HP:0010736	biolink:PhenotypicFeature	Monostotic fibrous dysplasia	Fibrous dysplasia of the bones were lesions are localized in only one bone.	MSH:D005358|SNOMEDCT_US:89859004|UMLS:C0016064	hp.json		http://purl.obolibrary.org/obo/HP_0010736							
HP:0010739	biolink:PhenotypicFeature	Osteopoikilosis	Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.	MSH:D010023|SNOMEDCT_US:9147009|UMLS:C0029455	hp.json		http://purl.obolibrary.org/obo/HP_0010739							
HP:0010740	biolink:PhenotypicFeature	Osteopathia striata	A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.	SNOMEDCT_US:82663009|UMLS:C0265513	hp.json		http://purl.obolibrary.org/obo/HP_0010740							
HP:0010741	biolink:PhenotypicFeature	Pedal edema	An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.	SNOMEDCT_US:102572006|UMLS:C0235886|UMLS:C0239340	hp.json	Fluid accumulation in lower limbs|Lower leg swelling|Leg oedema|Oedema of the lower limbs|Pedal oedema|Peripheral oedema of lower extremity|Dependant oedema|Edema of the lower limbs|Leg edema|Peripheral edema of lower extremity|Dependant edema	http://purl.obolibrary.org/obo/HP_0010741							
HP:0010742	biolink:PhenotypicFeature	Edema of the upper limbs	An abnormal accumulation of fluid beneath the skin of the arms.	SNOMEDCT_US:102558002|UMLS:C0522035	hp.json	Fluid accumulation in upper limbs|Oedema of the upper limbs	http://purl.obolibrary.org/obo/HP_0010742							
HP:0010743	biolink:PhenotypicFeature	Short metatarsal	Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.	UMLS:C1849020	hp.json	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							hposlim_core
HP:0010744	biolink:PhenotypicFeature	Absent metatarsal bone	A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.	UMLS:C4021232	hp.json	Absent long bone of foot|Aplasia of the metatarsal bones	http://purl.obolibrary.org/obo/HP_0010744							
HP:0010745	biolink:PhenotypicFeature	Aplasia of the phalanges of the toes	Absence of a digit or of one or more phalanges of a toe.	UMLS:C4021231	hp.json	Absent bones of the toes|Aphalangia of the toes	http://purl.obolibrary.org/obo/HP_0010745							
HP:0010746	biolink:PhenotypicFeature	Hypoplasia of the phalanges of the toes		UMLS:C4023715	hp.json	Small toe bones	http://purl.obolibrary.org/obo/HP_0010746							
HP:0010747	biolink:PhenotypicFeature	Medial flaring of the eyebrow	An abnormal distribution of eyebrow hair growth in the medial direction.	UMLS:C1844562	hp.json		http://purl.obolibrary.org/obo/HP_0010747							hposlim_core
HP:0010748	biolink:PhenotypicFeature	Ectopic lacrimal punctum	Positioning of a lacrimal punctum other than at the medial margins of the eyelid.	UMLS:C4021230	hp.json	Abnormal position of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0010748							hposlim_core
HP:0010749	biolink:PhenotypicFeature	Blepharochalasis	Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.	SNOMEDCT_US:47704002|UMLS:C0005742	hp.json	Saggy upper eyelid skin	http://purl.obolibrary.org/obo/HP_0010749							hposlim_core
HP:0010750	biolink:PhenotypicFeature	Dermatochalasis	Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.	SNOMEDCT_US:246815009|UMLS:C0423124|UMLS:C2674149	hp.json	Baggy eyes|Droopy eyelid skin|Extra eyelid skin|Redundant eyelid skin|Hooding of eyelids|Eyelid dermatochalasia	http://purl.obolibrary.org/obo/HP_0010750							
HP:0010751	biolink:PhenotypicFeature	Dimple chin	A persistent midline depression of the skin over the fat pad of the chin.	UMLS:C1849227	hp.json	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							hposlim_core
HP:0010752	biolink:PhenotypicFeature	Cleft mandible	Midline deficiency of the mandible and some or all overlying tissues.	SNOMEDCT_US:92822004|UMLS:C0685786	hp.json	Cleft lower jaw|Mandibular cleft	http://purl.obolibrary.org/obo/HP_0010752							hposlim_core
HP:0010753	biolink:PhenotypicFeature	Midline defect of mandible		UMLS:C4023714	hp.json	Midline cleft of mandible	http://purl.obolibrary.org/obo/HP_0010753							
HP:0010754	biolink:PhenotypicFeature	Abnormality of the temporomandibular joint	An anomaly of the temporomandibular joint.	SNOMEDCT_US:248401009|SNOMEDCT_US:75630004|UMLS:C0266941|UMLS:C0424721|UMLS:C1865318|UMLS:C4280366	hp.json	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							
HP:0010755	biolink:PhenotypicFeature	Asymmetry of the maxilla	Asymmetry between the left and right sides of the maxilla.	SNOMEDCT_US:235083001|UMLS:C0399519	hp.json	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							hposlim_core
HP:0010756	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the premaxilla	Absence or underdevelopment of the premaxilla.	UMLS:C4023713	hp.json	Aplasia/hypoplasia of the intermaxillary bone|Aplasia/hypoplasia of the primary palate bone	http://purl.obolibrary.org/obo/HP_0010756							
HP:0010757	biolink:PhenotypicFeature	Aplasia of the premaxilla	Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.	UMLS:C4023712	hp.json	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							
HP:0010758	biolink:PhenotypicFeature	Abnormality of the premaxilla	An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.	UMLS:C4023711	hp.json	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							
HP:0010759	biolink:PhenotypicFeature	Prominence of the premaxilla	Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.	UMLS:C2749369	hp.json	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							hposlim_core
HP:0010760	biolink:PhenotypicFeature	Absent toe	Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.	UMLS:C3553754	hp.json	Absent toe|Absent toes|Aplasia of toe|Aplasia of the toes	http://purl.obolibrary.org/obo/HP_0010760							hposlim_core
HP:0010761	biolink:PhenotypicFeature	Broad columella	Increased width of the columella.	UMLS:C1851059|UMLS:C4280365	hp.json	Columella, broad|Columella, wide|Fullness of columella|Increased width of columella|Hyperplasia of columella	http://purl.obolibrary.org/obo/HP_0010761							hposlim_core
HP:0010762	biolink:PhenotypicFeature	Chordoma	A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.	MSH:D002817|NCIT:C2947|SNOMEDCT_US:50007008|UMLS:C0008487	hp.json		http://purl.obolibrary.org/obo/HP_0010762							
HP:0010763	biolink:PhenotypicFeature	Low insertion of columella	Insertion of the posterior columella below the nasal base.	UMLS:C4021229|UMLS:C4280364	hp.json	Ala higher than columella|Columella, low insertion	http://purl.obolibrary.org/obo/HP_0010763							hposlim_core
HP:0010764	biolink:PhenotypicFeature	Short eyelashes	Decreased length of the eyelashes (subjective).	UMLS:C2748682	hp.json	Decreased length of eyelashes|Short eyelashes	http://purl.obolibrary.org/obo/HP_0010764							
HP:0010765	biolink:PhenotypicFeature	Palmar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand.	UMLS:C4023710	hp.json		http://purl.obolibrary.org/obo/HP_0010765							
HP:0010766	biolink:PhenotypicFeature	Ectopic calcification	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.	UMLS:C3806226	hp.json		http://purl.obolibrary.org/obo/HP_0010766							
HP:0010767	biolink:PhenotypicFeature	Sacrococcygeal pilonidal abnormality	The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.	UMLS:C4023709	hp.json		http://purl.obolibrary.org/obo/HP_0010767							
HP:0010769	biolink:PhenotypicFeature	Pilonidal sinus	A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.	MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925	hp.json	Pilonidal cyst	http://purl.obolibrary.org/obo/HP_0010769							hposlim_core
HP:0010770	biolink:PhenotypicFeature	Pilonidal fistula		MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925	hp.json		http://purl.obolibrary.org/obo/HP_0010770							
HP:0010771	biolink:PhenotypicFeature	Pilonidal abscess	A hair-containing cyst or sinus usually in the coccygeal region.	SNOMEDCT_US:85224001|UMLS:C3537055	hp.json	Sacrococcygeal fistula	http://purl.obolibrary.org/obo/HP_0010771							
HP:0010772	biolink:PhenotypicFeature	Anomalous pulmonary venous return	A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.	MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400	hp.json		http://purl.obolibrary.org/obo/HP_0010772							
HP:0010773	biolink:PhenotypicFeature	Partial anomalous pulmonary venous return	A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.	Fyler:2030|SNOMEDCT_US:68237008|UMLS:C0158634	hp.json	Partial anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0010773							
HP:0010774	biolink:PhenotypicFeature	Cor triatriatum	The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).	Fyler:3031|ICD-10:Q24.2|UMLS:C4023708	hp.json	Triatrial heart	http://purl.obolibrary.org/obo/HP_0010774							
HP:0010775	biolink:PhenotypicFeature	Vascular ring	A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.	Fyler:2760|SNOMEDCT_US:110409004|SNOMEDCT_US:66403007|UMLS:C0221214	hp.json	Vascular ring of aorta	http://purl.obolibrary.org/obo/HP_0010775							
HP:0010776	biolink:PhenotypicFeature	Tracheobronchmegaly	Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.	UMLS:C4023707	hp.json		http://purl.obolibrary.org/obo/HP_0010776							
HP:0010777	biolink:PhenotypicFeature	Bronchomegaly	Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.	UMLS:C4023706	hp.json		http://purl.obolibrary.org/obo/HP_0010777							
HP:0010778	biolink:PhenotypicFeature	Tracheomegaly	Marked widening of the trachea.	UMLS:C4023705	hp.json		http://purl.obolibrary.org/obo/HP_0010778							
HP:0010779	biolink:PhenotypicFeature	Large pelvis bone	The presence of an abnormally large pelvis.	UMLS:C4019074|UMLS:C4072882	hp.json	Large pelvis|Large pelvis bone	http://purl.obolibrary.org/obo/HP_0010779							hposlim_core
HP:0010780	biolink:PhenotypicFeature	Hyperacusis	Over-sensitivity to certain frequency ranges of sound.	MSH:D012001|SNOMEDCT_US:194399009|SNOMEDCT_US:25289003|UMLS:C0034880	hp.json	Sensitivity to noise|Loudness intolerance	http://purl.obolibrary.org/obo/HP_0010780							hposlim_core
HP:0010781	biolink:PhenotypicFeature	Skin dimple	Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.	SNOMEDCT_US:301854006|UMLS:C0578531	hp.json	Skin dimples	http://purl.obolibrary.org/obo/HP_0010781							
HP:0010782	biolink:PhenotypicFeature	Shoulder dimple	A subtype of skin dimples occurring in the shoulder region.	UMLS:C4023704	hp.json	Bi-acromial dimples|Shoulder dimples|Acromial dimple	http://purl.obolibrary.org/obo/HP_0010782							
HP:0010783	biolink:PhenotypicFeature	Erythema	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.	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	hp.json	Redness of skin or mucous membrane	http://purl.obolibrary.org/obo/HP_0010783							hposlim_core
HP:0010784	biolink:PhenotypicFeature	Uterine neoplasm	A tumor (abnormal growth of tissue) of the uterus.	MSH:D014594|NCIT:C3262|SNOMEDCT_US:126908007|UMLS:C0042138	hp.json	Uterine cancer|Uterine tumor|Uterine tumour|Uterine neoplasia	http://purl.obolibrary.org/obo/HP_0010784							
HP:0010785	biolink:PhenotypicFeature	Gonadal neoplasm	A tumor (abnormal growth of tissue) of a gonad.	NCIT:C3262|UMLS:C4021228	hp.json	Gonadal neoplasia	http://purl.obolibrary.org/obo/HP_0010785							
HP:0010786	biolink:PhenotypicFeature	Urinary tract neoplasm	The presence of a neoplasm of the urinary system.	MSH:D014571|NCIT:C3262|SNOMEDCT_US:126879004|SNOMEDCT_US:254913005|UMLS:C0042076	hp.json	Urinary tract neoplasia	http://purl.obolibrary.org/obo/HP_0010786							
HP:0010787	biolink:PhenotypicFeature	Genital neoplasm	A tumor (abnormal growth of tissue) of the genital system.	NCIT:C3262|UMLS:C0679347|UMLS:C4020767	hp.json	Genital tumor|Genital tumour|Genital neoplasia	http://purl.obolibrary.org/obo/HP_0010787							
HP:0010788	biolink:PhenotypicFeature	Testicular neoplasm	The presence of a neoplasm of the testis.	MSH:D013736|NCIT:C3262|SNOMEDCT_US:126900000|UMLS:C0039590	hp.json	Testicular cancer|Testicular tumor|Testicular tumour|Testicular neoplasia	http://purl.obolibrary.org/obo/HP_0010788							
HP:0010789	biolink:PhenotypicFeature	Abnormality of the Leydig cells		UMLS:C4023703	hp.json		http://purl.obolibrary.org/obo/HP_0010789							
HP:0010790	biolink:PhenotypicFeature	Hyoplasia of the Leydig cells	Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.	UMLS:C4023702	hp.json		http://purl.obolibrary.org/obo/HP_0010790							
HP:0010791	biolink:PhenotypicFeature	Hyperplasia of the Leydig cells	Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.	SNOMEDCT_US:76085008|UMLS:C0023600	hp.json		http://purl.obolibrary.org/obo/HP_0010791							
HP:0010793	biolink:PhenotypicFeature	Bifid nail	A digit with two nails, with at least some soft tissue between them.	SNOMEDCT_US:110992006|UMLS:C0544857	hp.json	Notched nail|duplicated nail	http://purl.obolibrary.org/obo/HP_0010793							hposlim_core
HP:0010794	biolink:PhenotypicFeature	Impaired visuospatial constructive cognition	Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).	UMLS:C4023701	hp.json		http://purl.obolibrary.org/obo/HP_0010794							
HP:0010795	biolink:PhenotypicFeature	Cerebellar glioma	A glioma affecting the cerebellum.	UMLS:C4023700	hp.json		http://purl.obolibrary.org/obo/HP_0010795							
HP:0010796	biolink:PhenotypicFeature	Brainstem glioma	A glioma affecting the brainstem.	SNOMEDCT_US:444545003|UMLS:C0677865	hp.json		http://purl.obolibrary.org/obo/HP_0010796							
HP:0010797	biolink:PhenotypicFeature	Hemangioblastoma	A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.	MSH:D018325|NCIT:C3801|SNOMEDCT_US:81201000|UMLS:C0206734	hp.json	Haemangioblastoma	http://purl.obolibrary.org/obo/HP_0010797							
HP:0010798	biolink:PhenotypicFeature	Lip freckle	Increased focal pigmentation of the vermilion of the lips.	SNOMEDCT_US:239136007|UMLS:C0406814	hp.json	Lip freckle|Ephelis of lip|Labial lentigo|Lip lentigo	http://purl.obolibrary.org/obo/HP_0010798							hposlim_core
HP:0010799	biolink:PhenotypicFeature	Pinealoma	A neoplasm of the pineal gland.	MSH:D010871|NCIT:C3328|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941	hp.json		http://purl.obolibrary.org/obo/HP_0010799							
HP:0010800	biolink:PhenotypicFeature	Absent cupid's bow	Lack of paramedian peaks and median notch of the upper lip vermilion.	UMLS:C2053435	hp.json	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							hposlim_core
HP:0010801	biolink:PhenotypicFeature	Underdeveloped nasolabial fold	Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).	UMLS:C4021227	hp.json	Flat nasolabial fold|Nasolabial crease, hypoplastic|Nasolabial crease, underdeveloped|Nasolabial fold, hypoplastic|Shallow nasolabial fold	http://purl.obolibrary.org/obo/HP_0010801							hposlim_core
HP:0010802	biolink:PhenotypicFeature	Perioral hyperpigmentation	Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.	UMLS:C4023699	hp.json	Darkening of skin around the mouth|Increased pigmentation around the mouth	http://purl.obolibrary.org/obo/HP_0010802							
HP:0010803	biolink:PhenotypicFeature	Everted upper lip vermilion	Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.	UMLS:C3275452|UMLS:C4023698|UMLS:C4280363	hp.json	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							hposlim_core
HP:0010804	biolink:PhenotypicFeature	Tented upper lip vermilion	Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.	UMLS:C1839767|UMLS:C1850072|UMLS:C1853383	hp.json	Tented mouth|Tented upper lip|Inverted V-shaped upper lip	http://purl.obolibrary.org/obo/HP_0010804							hposlim_core
HP:0010805	biolink:PhenotypicFeature	Upturned corners of mouth	Oral commissures positioned superior to the midline labial fissure.	UMLS:C3553471	hp.json	Upturned corners of mouth|Upturned mouth|Upturned oral commisures	http://purl.obolibrary.org/obo/HP_0010805							hposlim_core
HP:0010806	biolink:PhenotypicFeature	U-Shaped upper lip vermilion	Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.	UMLS:C1856202	hp.json	Carp-like mouth|Carp-shaped mouth|Fish mouth|Large, carp-shaped mouth|Wide, carp-shaped mouth	http://purl.obolibrary.org/obo/HP_0010806							
HP:0010807	biolink:PhenotypicFeature	Open bite	Visible space between the dental arches in occlusion.	MSH:D024343|SNOMEDCT_US:35580009|UMLS:C0266061	hp.json	Absence of overlap of upper and lower teeth|Open bite|Open bite between upper and lower teeth	http://purl.obolibrary.org/obo/HP_0010807							hposlim_core
HP:0010808	biolink:PhenotypicFeature	Protruding tongue	Tongue extending beyond the alveolar ridges or teeth at rest.	SNOMEDCT_US:249872000|SNOMEDCT_US:285503005|UMLS:C0241442	hp.json	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							hposlim_core
HP:0010809	biolink:PhenotypicFeature	Broad uvula	Increased width of the uvula (subjective finding).	UMLS:C3693299	hp.json	Wide uvula	http://purl.obolibrary.org/obo/HP_0010809							hposlim_core
HP:0010810	biolink:PhenotypicFeature	Long uvula	Increased length of the uvula.	UMLS:C4023697|UMLS:C4280362	hp.json	Hyperplasia of uvula|Long palatine uvula|Elongated uvula	http://purl.obolibrary.org/obo/HP_0010810							hposlim_core
HP:0010811	biolink:PhenotypicFeature	Narrow uvula	Decreased width of the uvula.	UMLS:C4023696	hp.json	Narrow palatine uvula|Thin uvula	http://purl.obolibrary.org/obo/HP_0010811							hposlim_core
HP:0010812	biolink:PhenotypicFeature	Short uvula	Decreased length of the uvula.	UMLS:C1401781	hp.json	Hypoplastic uvula|Short palatine uvula|Blunt uvula	http://purl.obolibrary.org/obo/HP_0010812							
HP:0010813	biolink:PhenotypicFeature	Abnormal number of hair whorls	More than two clockwise hair whorls.	UMLS:C4023695	hp.json	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							hposlim_core
HP:0010814	biolink:PhenotypicFeature	Abnormal position of hair whorl	Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.	UMLS:C4023694	hp.json	Abnormal location of hair swirl|Abnormal position of hair whorl	http://purl.obolibrary.org/obo/HP_0010814							hposlim_core
HP:0010815	biolink:PhenotypicFeature	Nevus sebaceous	A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.	MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|UMLS:C3854181	hp.json	Naevus sebaceous|Organoid nevus|Sebaceous mole|Sebaceous naevus|Sebaceous nevus	http://purl.obolibrary.org/obo/HP_0010815							
HP:0010816	biolink:PhenotypicFeature	Epidermal nevus	Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.	MSH:C580062|SNOMEDCT_US:239107007|SNOMEDCT_US:25201003|UMLS:C0334082	hp.json	Epidermal nevi	http://purl.obolibrary.org/obo/HP_0010816							
HP:0010817	biolink:PhenotypicFeature	Linear nevus sebaceous	A type of nevus sebaceous with a linear form, raised borders and yellowish color.	MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|UMLS:C3854181	hp.json		http://purl.obolibrary.org/obo/HP_0010817							
HP:0010818	biolink:PhenotypicFeature	Generalized tonic seizure	A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.	UMLS:C1836508	hp.json	Generalized tonic seizures|Generalised tonic seizure|Generalised tonic seizures|Generalised hypertonic seizure|Generalized hypertonic seizure|Hypertonic seizures	http://purl.obolibrary.org/obo/HP_0010818							
HP:0010819	biolink:PhenotypicFeature	Atonic seizure	Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.	SNOMEDCT_US:189198006|SNOMEDCT_US:42365007|UMLS:C0270846|UMLS:C1836509	hp.json	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							
HP:0010820	biolink:PhenotypicFeature	Focal emotional seizure with crying	Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.	UMLS:C4023693	hp.json	Dacrystic seizures|Dacrystic seizure	http://purl.obolibrary.org/obo/HP_0010820							
HP:0010821	biolink:PhenotypicFeature	Focal emotional seizure with laughing	Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.	MSH:D004828|SNOMEDCT_US:89525009|UMLS:C0270820	hp.json	Gelastic seizures|Gelastic seizure	http://purl.obolibrary.org/obo/HP_0010821							
HP:0010822	biolink:PhenotypicFeature	Scintillating scotoma	A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.	MSH:D012607|SNOMEDCT_US:2228002|UMLS:C0235068	hp.json		http://purl.obolibrary.org/obo/HP_0010822							
HP:0010823	biolink:PhenotypicFeature	Ridged cranial sutures	An overlap of the bony plates of the skull in an infant, with or without early closure.	UMLS:C4023692	hp.json	Cranial suture ridges	http://purl.obolibrary.org/obo/HP_0010823							hposlim_core
HP:0010824	biolink:PhenotypicFeature	Abnormal fifth cranial nerve morphology	Any structural abormality of the fifth cranial nerve.	UMLS:C4021226	hp.json	Abnormal trigeminal nerve morphology|Abnormality of the fifth cranial nerve|Abnormality of the nervus trigeminus	http://purl.obolibrary.org/obo/HP_0010824							
HP:0010825	biolink:PhenotypicFeature	Abnormality of the eleventh cranial nerve	Abnormality of the eleventh cranial nerve.	UMLS:C4021225	hp.json	Abnormality of cranial nerve XI|Abnormality of the accessory nerve	http://purl.obolibrary.org/obo/HP_0010825							
HP:0010826	biolink:PhenotypicFeature	Abnormality of the twelfth cranial nerve	Abnormality of the twelfth cranial nerve.	UMLS:C4021224	hp.json	Abnormality of cranial nerve 12|Abnormality of cranial nerve xii|Abnormality of the hypoglossal nerve	http://purl.obolibrary.org/obo/HP_0010826							
HP:0010827	biolink:PhenotypicFeature	Abnormality of the seventh cranial nerve	Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.	UMLS:C4021223	hp.json	Abnormality of the facial nerve	http://purl.obolibrary.org/obo/HP_0010827							
HP:0010828	biolink:PhenotypicFeature	Hemifacial spasm	Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.	MSH:D019569|SNOMEDCT_US:13753008|UMLS:C0278152	hp.json	Spasms on one side of the face|Hemifacial spasms	http://purl.obolibrary.org/obo/HP_0010828							
HP:0010829	biolink:PhenotypicFeature	Impaired temperature sensation	A reduced ability to discriminate between different temperatures.	UMLS:C4021222	hp.json	Abnormality of temperature sensation|Impaired temperature sensation|Loss of temperature sensation|Impaired thermal sensitivity	http://purl.obolibrary.org/obo/HP_0010829							
HP:0010830	biolink:PhenotypicFeature	Impaired tactile sensation	A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.	UMLS:C4021221	hp.json	Impaired touch sensation|Abnormal thigmesthesia|Loss of tactile sensation	http://purl.obolibrary.org/obo/HP_0010830							
HP:0010831	biolink:PhenotypicFeature	Impaired proprioception	A loss or impairment of the sensation of the relative position of parts of the body and joint position.	UMLS:C1856691	hp.json	Abnormality of proprioception	http://purl.obolibrary.org/obo/HP_0010831							
HP:0010832	biolink:PhenotypicFeature	Abnormality of pain sensation	Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.	UMLS:C4023691	hp.json		http://purl.obolibrary.org/obo/HP_0010832							
HP:0010833	biolink:PhenotypicFeature	Spontaneous pain sensation	Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.	UMLS:C4023690	hp.json		http://purl.obolibrary.org/obo/HP_0010833							
HP:0010834	biolink:PhenotypicFeature	Trophic changes related to pain	Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.	UMLS:C4021220	hp.json	Trophic changes	http://purl.obolibrary.org/obo/HP_0010834							
HP:0010835	biolink:PhenotypicFeature	Dissociated sensory loss	A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.	SNOMEDCT_US:87275002|UMLS:C0278136	hp.json		http://purl.obolibrary.org/obo/HP_0010835							
HP:0010836	biolink:PhenotypicFeature	Abnormal circulating copper concentration	An abnormal concentration of copper.	UMLS:C4020766|UMLS:C4023689	hp.json	Abnormal copper levels	http://purl.obolibrary.org/obo/HP_0010836							
HP:0010837	biolink:PhenotypicFeature	Decreased circulating ceruloplasmin concentration	Decreased concentration of ceruloplasmin in the blood.	UMLS:C0240997	hp.json	Decreased serum ceruloplasmin|Hypoceruloplasminaemia|Decreased serum ceruloplasminA|Hypoceruloplasminemia	http://purl.obolibrary.org/obo/HP_0010837							
HP:0010838	biolink:PhenotypicFeature	High nonceruloplasmin-bound serum copper	An increased concentration of non ceruloplasmin bound copper in the blood.	UMLS:C1848459	hp.json		http://purl.obolibrary.org/obo/HP_0010838							
HP:0010839	biolink:PhenotypicFeature	Increased urinary copper concentration	An increased concentration of copper in the urine.	UMLS:C4023688	hp.json	Increased urinary copper concentration	http://purl.obolibrary.org/obo/HP_0010839							
HP:0010841	biolink:PhenotypicFeature	Multifocal epileptiform discharges	An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).	UMLS:C4021219	hp.json	Multifocal EEG abnormality	http://purl.obolibrary.org/obo/HP_0010841							
HP:0010843	biolink:PhenotypicFeature	EEG with focal slow activity	Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).	UMLS:C4021218	hp.json	EEG: focal slow activity|EEG: localised slow activity|EEG: localized slow activity	http://purl.obolibrary.org/obo/HP_0010843							
HP:0010844	biolink:PhenotypicFeature	EEG with multifocal slow activity	Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4023687	hp.json		http://purl.obolibrary.org/obo/HP_0010844							
HP:0010845	biolink:PhenotypicFeature	EEG with generalized slow activity	Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4021217	hp.json	EEG with generalised slow activity|EEG: generalised slow activity|EEG: generalized slow activity	http://purl.obolibrary.org/obo/HP_0010845							
HP:0010846	biolink:PhenotypicFeature	EEG with persistent abnormal rhythmic activity		UMLS:C4021216	hp.json	EEG: persistent abnormal rhythmic activity	http://purl.obolibrary.org/obo/HP_0010846							
HP:0010847	biolink:PhenotypicFeature	EEG with spike-wave complexes (<2.5 Hz)	The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).	UMLS:C4023686	hp.json		http://purl.obolibrary.org/obo/HP_0010847							
HP:0010848	biolink:PhenotypicFeature	EEG with spike-wave complexes (2.5-3.5 Hz)	The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).	UMLS:C4023685	hp.json		http://purl.obolibrary.org/obo/HP_0010848							
HP:0010849	biolink:PhenotypicFeature	EEG with spike-wave complexes (>3.5 Hz)	The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).	UMLS:C4020765|UMLS:C4023684	hp.json	EEG with 3-4-Hz spike waves	http://purl.obolibrary.org/obo/HP_0010849							
HP:0010850	biolink:PhenotypicFeature	EEG with spike-wave complexes	Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4023683	hp.json		http://purl.obolibrary.org/obo/HP_0010850							
HP:0010851	biolink:PhenotypicFeature	EEG with burst suppression	The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.	UMLS:C1969156	hp.json		http://purl.obolibrary.org/obo/HP_0010851							
HP:0010852	biolink:PhenotypicFeature	EEG with photoparoxysmal response	EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.	UMLS:C3552821	hp.json	Photoparoxysmal response on EEG	http://purl.obolibrary.org/obo/HP_0010852							
HP:0010853	biolink:PhenotypicFeature	EEG with periodic lateralized epileptiform discharges	Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).	UMLS:C4021215	hp.json	EEG: periodic lateralized epileptiform discharges	http://purl.obolibrary.org/obo/HP_0010853							
HP:0010854	biolink:PhenotypicFeature	EEG with generalized low amplitude activity	An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4021214	hp.json	EEG with generalised low amplitude activity|EEG: generalised low amplitude activity	http://purl.obolibrary.org/obo/HP_0010854							
HP:0010855	biolink:PhenotypicFeature	EEG with localized low amplitude activity	An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4021213	hp.json	EEG with localised low amplitude activity|EEG: localised low amplitude activity	http://purl.obolibrary.org/obo/HP_0010855							
HP:0010856	biolink:PhenotypicFeature	EEG with periodic complexes	Periodically occurring generalized periodic complexes.	UMLS:C4021212	hp.json	EEG: periodic complexes|Radermecker complexes	http://purl.obolibrary.org/obo/HP_0010856							
HP:0010857	biolink:PhenotypicFeature	EEG with periodic abnormalities	Periodically recurring abnormalities in the EEG.	UMLS:C4021211	hp.json	EEG: periodic abnormalities	http://purl.obolibrary.org/obo/HP_0010857							
HP:0010858	biolink:PhenotypicFeature	EEG with hyperventilation-induced epileptiform discharges	Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4023682	hp.json		http://purl.obolibrary.org/obo/HP_0010858							
HP:0010859	biolink:PhenotypicFeature	Frank breech presentation	A kind of breech presentation in which the hips are flexed and the knees are extended.	MSH:D001946|SNOMEDCT_US:18559007|UMLS:C0233286	hp.json		http://purl.obolibrary.org/obo/HP_0010859							
HP:0010860	biolink:PhenotypicFeature	Complete breech presentation	A kind of breech presentation in which the hips are flexed and the knees are flexed.	MSH:D001946|SNOMEDCT_US:49168004|UMLS:C0233283	hp.json		http://purl.obolibrary.org/obo/HP_0010860							
HP:0010861	biolink:PhenotypicFeature	Incomplete breech presentation	A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.	MSH:D001946|SNOMEDCT_US:38049006|UMLS:C0426146	hp.json		http://purl.obolibrary.org/obo/HP_0010861							
HP:0010862	biolink:PhenotypicFeature	Delayed fine motor development	A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.	UMLS:C4023681	hp.json		http://purl.obolibrary.org/obo/HP_0010862							
HP:0010863	biolink:PhenotypicFeature	Receptive language delay	A delay in the acquisition of the ability to understand the speech of others.	SNOMEDCT_US:229736005|UMLS:C0454642	hp.json		http://purl.obolibrary.org/obo/HP_0010863							
HP:0010864	biolink:PhenotypicFeature	Intellectual disability, severe	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.	SNOMEDCT_US:40700009|UMLS:C0036857	hp.json	Early and severe mental retardation|Intellectual disability, severe|Mental retardation, severe|Severe mental retardation	http://purl.obolibrary.org/obo/HP_0010864							
HP:0010865	biolink:PhenotypicFeature	Oppositional defiant disorder	An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.	MSH:D019958|SNOMEDCT_US:18941000|UMLS:C0029121	hp.json		http://purl.obolibrary.org/obo/HP_0010865							
HP:0010866	biolink:PhenotypicFeature	Abdominal wall defect	An incomplete closure of the abdominal wall.	UMLS:C0238577	hp.json	Abdominal wall defect|Congenital anterior abdominal wall defect	http://purl.obolibrary.org/obo/HP_0010866							
HP:0010867	biolink:PhenotypicFeature	Dyssynergia	A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.	MSH:D001259|SNOMEDCT_US:20262006|SNOMEDCT_US:39384006|UMLS:C0004134	hp.json		http://purl.obolibrary.org/obo/HP_0010867							
HP:0010868	biolink:PhenotypicFeature	Ocular dyssynergia	A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.	UMLS:C4023680	hp.json		http://purl.obolibrary.org/obo/HP_0010868							
HP:0010869	biolink:PhenotypicFeature	Asynergia	A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.	SNOMEDCT_US:77743009|UMLS:C0234355	hp.json		http://purl.obolibrary.org/obo/HP_0010869							
HP:0010871	biolink:PhenotypicFeature	Sensory ataxia	Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.	MSH:D001259|SNOMEDCT_US:445458007|SNOMEDCT_US:69131009|UMLS:C0037921|UMLS:C0240991	hp.json	Afferent ataxia|Ataxia, sensory|Spinal ataxia	http://purl.obolibrary.org/obo/HP_0010871							
HP:0010872	biolink:PhenotypicFeature	T-wave inversion	An inversion of the T-wave (which is normally positive).	SNOMEDCT_US:59931005|UMLS:C0520888	hp.json	EKG: T-wave inversion	http://purl.obolibrary.org/obo/HP_0010872							
HP:0010873	biolink:PhenotypicFeature	Cervical spinal cord atrophy	Atrophy of the cervical segment of the spinal cord.	UMLS:C0742191	hp.json		http://purl.obolibrary.org/obo/HP_0010873							
HP:0010874	biolink:PhenotypicFeature	Tendon xanthomatosis	The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).	SNOMEDCT_US:69880002|UMLS:C0221253	hp.json	Tendon xanthomas	http://purl.obolibrary.org/obo/HP_0010874							
HP:0010875	biolink:PhenotypicFeature	Chaddock reflex	A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.	SNOMEDCT_US:413813004|UMLS:C1531651	hp.json		http://purl.obolibrary.org/obo/HP_0010875							
HP:0010876	biolink:PhenotypicFeature	Abnormal circulating protein concentration	An abnormal level of a circulating protein in the blood.	UMLS:C4020763|UMLS:C4020764|UMLS:C4023679	hp.json	Blood protein disease|Abnormal circulating protein level|Abnormality of circulating protein level|Serum protein abnormality	http://purl.obolibrary.org/obo/HP_0010876							
HP:0010877	biolink:PhenotypicFeature	Monocular strabismus	A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.	UMLS:C4023678	hp.json	Unilateral strabismus	http://purl.obolibrary.org/obo/HP_0010877							
HP:0010878	biolink:PhenotypicFeature	Fetal cystic hygroma	The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.	MSH:C537852|UMLS:C0948242	hp.json	Foetal cystic hygroma	http://purl.obolibrary.org/obo/HP_0010878							
HP:0010879	biolink:PhenotypicFeature	Postnatal cystic hygroma		UMLS:C4023677	hp.json		http://purl.obolibrary.org/obo/HP_0010879							
HP:0010880	biolink:PhenotypicFeature	Increased nuchal translucency	The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).	UMLS:C4023676	hp.json		http://purl.obolibrary.org/obo/HP_0010880							
HP:0010881	biolink:PhenotypicFeature	Abnormality of the umbilical cord	An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.	SNOMEDCT_US:90009001|UMLS:C0266785	hp.json	Umbilical cord issue	http://purl.obolibrary.org/obo/HP_0010881							
HP:0010882	biolink:PhenotypicFeature	Pulmonary valve atresia	A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.	Fyler:1001|MSH:D018633|SNOMEDCT_US:204342004|SNOMEDCT_US:448564004|UMLS:C0242855	hp.json		http://purl.obolibrary.org/obo/HP_0010882							
HP:0010883	biolink:PhenotypicFeature	Aortic valve atresia	A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.	SNOMEDCT_US:51442005|UMLS:C0265843	hp.json	Aortic atresia	http://purl.obolibrary.org/obo/HP_0010883							
HP:0010884	biolink:PhenotypicFeature	Acromelia	Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.	UMLS:C4023675	hp.json		http://purl.obolibrary.org/obo/HP_0010884							hposlim_core
HP:0010885	biolink:PhenotypicFeature	Avascular necrosis	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.	MSH:D010020|SNOMEDCT_US:240196003|SNOMEDCT_US:398199007|SNOMEDCT_US:72756009|UMLS:C0029445|UMLS:C0085660|UMLS:C0520474|UMLS:C0877326	hp.json	Death of bone due to decreased blood supply|Ischaemic bone necrosis|Aseptic bone necrosis|Aseptic necrosis|Bone infarction|Ischemic bone necrosis|Osteochondronecrosis|Osteonecrosis	http://purl.obolibrary.org/obo/HP_0010885							
HP:0010886	biolink:PhenotypicFeature	Osteochondritis Dissecans	A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.	MSH:D010008|SNOMEDCT_US:82562007|UMLS:C0029421	hp.json	Osteochondrosis dissecans	http://purl.obolibrary.org/obo/HP_0010886							
HP:0010888	biolink:PhenotypicFeature	Morbus Koehler	Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.	UMLS:C4023674	hp.json		http://purl.obolibrary.org/obo/HP_0010888							
HP:0010889	biolink:PhenotypicFeature	Morbus Kienboeck	Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.	MSH:D010020|SNOMEDCT_US:360466009|SNOMEDCT_US:367356000|SNOMEDCT_US:84062004|UMLS:C0022682	hp.json	Kienboeck's disease|Kienböck's disease|Lunatomalacia	http://purl.obolibrary.org/obo/HP_0010889							
HP:0010890	biolink:PhenotypicFeature	Morbus Osgood-Schlatter	Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.	MSH:D055034|SNOMEDCT_US:72047008|SNOMEDCT_US:79353000|UMLS:C0029376	hp.json	Osgood Schlatter disease	http://purl.obolibrary.org/obo/HP_0010890							
HP:0010891	biolink:PhenotypicFeature	Morbus Scheuermann	A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).	MSH:D012544|SNOMEDCT_US:53406005|UMLS:C0036310	hp.json	Calve disease|Juvenile Osteochondrosis of the spine|Scheuermann disease|Scheuermann kyphosis|Sherman's Disease	http://purl.obolibrary.org/obo/HP_0010891							
HP:0010892	biolink:PhenotypicFeature	Abnormal circulating branched chain amino acid concentration	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.	UMLS:C4023673	hp.json		http://purl.obolibrary.org/obo/HP_0010892							
HP:0010893	biolink:PhenotypicFeature	Abnormal circulating phenylalanine concentration	Any deviation from the normal concentration of phenylalanine in the blood circulation.	UMLS:C4023672	hp.json	Abnormality of phenylalanine metabolism	http://purl.obolibrary.org/obo/HP_0010893							
HP:0010894	biolink:PhenotypicFeature	Abnormal circulating serine family amino acid concentration	Any deviation from the normal concentration of a serine family amino acid in the blood circulation.	UMLS:C4023671	hp.json	Abnormality of serine family amino acid metabolism	http://purl.obolibrary.org/obo/HP_0010894							
HP:0010895	biolink:PhenotypicFeature	Abnormal circulating glycine concentration	Any deviation from the normal concentration of glycine in the blood circulation.	UMLS:C4023670	hp.json		http://purl.obolibrary.org/obo/HP_0010895							
HP:0010896	biolink:PhenotypicFeature	Hypersarcosinemia	An elevated plasma concentration of sarcosine.	MSH:C537236|SNOMEDCT_US:64852002|UMLS:C0268563	hp.json	High plasma sarcosine levels	http://purl.obolibrary.org/obo/HP_0010896							
HP:0010897	biolink:PhenotypicFeature	Hypersarcosinuria	An elevated urinary concentration of sarcosine.	UMLS:C4023669	hp.json	High urine sarcosine levels	http://purl.obolibrary.org/obo/HP_0010897							
HP:0010898	biolink:PhenotypicFeature	Abnormal circulating sarcosine concentration	An deviation from the normal concentration of sarcosine in the blood circulation.	UMLS:C4023668	hp.json		http://purl.obolibrary.org/obo/HP_0010898							
HP:0010899	biolink:PhenotypicFeature	Abnormal circulating aspartate family amino acid concentration	Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.	UMLS:C4023667	hp.json		http://purl.obolibrary.org/obo/HP_0010899							
HP:0010900	biolink:PhenotypicFeature	Abnormal circulating threonine concentration	Any deviation from the normal concentration of threonine in the blood circulation.	UMLS:C4023666	hp.json	Abnormality of threonine metabolism	http://purl.obolibrary.org/obo/HP_0010900							
HP:0010901	biolink:PhenotypicFeature	Abnormal circulating methionine concentration	Any deviation from the normal concentration of methionine in the blood circulation.	UMLS:C4023665	hp.json	Abnormality of methionine metabolism	http://purl.obolibrary.org/obo/HP_0010901							
HP:0010902	biolink:PhenotypicFeature	Abnormal circulating glutamine family amino acid concentration	Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.	UMLS:C4023664	hp.json		http://purl.obolibrary.org/obo/HP_0010902							
HP:0010903	biolink:PhenotypicFeature	Abnormal circulating glutamine concentration	Any deviation from the normal concentration of glutamine in the blood circulation.	UMLS:C4023663	hp.json		http://purl.obolibrary.org/obo/HP_0010903							
HP:0010904	biolink:PhenotypicFeature	Abnormal circulating histidine concentration	An abnormality of a histidine metabolic process.	UMLS:C4023662	hp.json	Abnormality of histidine metabolism	http://purl.obolibrary.org/obo/HP_0010904							
HP:0010905	biolink:PhenotypicFeature	obsolete Abnormality of histidine metabolism			hp.json		http://purl.obolibrary.org/obo/HP_0010905							
HP:0010906	biolink:PhenotypicFeature	Hyperhistidinemia	An increased concentration of histidine in the blood.	MSH:C538320|SNOMEDCT_US:124628005|SNOMEDCT_US:410058007|UMLS:C0220992	hp.json	High blood histidine level|Histidinemia	http://purl.obolibrary.org/obo/HP_0010906							
HP:0010907	biolink:PhenotypicFeature	Abnormal circulating proline concentration	Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.	UMLS:C4023661	hp.json		http://purl.obolibrary.org/obo/HP_0010907							
HP:0010908	biolink:PhenotypicFeature	Abnormal circulating lysine concentration	Any deviation from the normal concentration of lysine in the blood circulation.	UMLS:C4023660	hp.json	Abnormality of lysine metabolism	http://purl.obolibrary.org/obo/HP_0010908							
HP:0010909	biolink:PhenotypicFeature	Abnormal circulating arginine concentration	Any deviation from the normal concentration of arginine in the blood circulation.	UMLS:C4023659	hp.json	Abnormality of arginine metabolism	http://purl.obolibrary.org/obo/HP_0010909							
HP:0010910	biolink:PhenotypicFeature	Hypervalinemia	An increased concentration of valine in the blood.	MSH:C536524|SNOMEDCT_US:47719001|UMLS:C0268573	hp.json	High blood valine concentration	http://purl.obolibrary.org/obo/HP_0010910							
HP:0010911	biolink:PhenotypicFeature	Hyperleucinemia	An increased concentration of leucine in the blood.	SNOMEDCT_US:24013007|UMLS:C0268576	hp.json	High blood leucine concentration	http://purl.obolibrary.org/obo/HP_0010911							
HP:0010912	biolink:PhenotypicFeature	Abnormal circulating isoleucine concentration	Any deviation from the normal concentration of isoleucine in the blood circulation.	UMLS:C4023658	hp.json		http://purl.obolibrary.org/obo/HP_0010912							
HP:0010913	biolink:PhenotypicFeature	Hyperisoleucinemia	An increased concentration of isoleucine in the blood.	UMLS:C4023657	hp.json	High blood isoleucine concentration	http://purl.obolibrary.org/obo/HP_0010913							
HP:0010914	biolink:PhenotypicFeature	Abnormal circulating valine concentration	Any deviation from the normal circulation of valine in the blood circulation.	UMLS:C4023656	hp.json	Abnormality of valine metabolism	http://purl.obolibrary.org/obo/HP_0010914							
HP:0010915	biolink:PhenotypicFeature	Abnormal circulating pyruvate family amino acid concentration	An abnormality of a pyruvate family amino acid metabolic process.	UMLS:C4023655	hp.json	Abnormality of pyruvate family amino acid metabolism	http://purl.obolibrary.org/obo/HP_0010915							
HP:0010916	biolink:PhenotypicFeature	Abnormal circulating alanine concentration	An abnormality of an alanine metabolic process.	UMLS:C4023654	hp.json	Abnormality of alanine metabolism	http://purl.obolibrary.org/obo/HP_0010916							
HP:0010917	biolink:PhenotypicFeature	Abnormal circulating tyrosine concentration	Any deviation from the normal concentration of tyrosine in the blood circulation.	UMLS:C4023653	hp.json		http://purl.obolibrary.org/obo/HP_0010917							
HP:0010918	biolink:PhenotypicFeature	Abnormal circulating cysteine concentration	An abnormality of a cysteine metabolic process.	UMLS:C4023652	hp.json		http://purl.obolibrary.org/obo/HP_0010918							
HP:0010919	biolink:PhenotypicFeature	Abnormal circulating homocysteine concentration	An abnormality of a homocysteine metabolic process.	UMLS:C4023651	hp.json		http://purl.obolibrary.org/obo/HP_0010919							
HP:0010920	biolink:PhenotypicFeature	Zonular cataract	Zonular cataracts are defined to be cataracts that affect specific regions of the lens.	MSH:C535342|UMLS:C1861821	hp.json		http://purl.obolibrary.org/obo/HP_0010920							
HP:0010921	biolink:PhenotypicFeature	Coralliform cataract	A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.	UMLS:C1392104	hp.json		http://purl.obolibrary.org/obo/HP_0010921							
HP:0010922	biolink:PhenotypicFeature	Membranous cataract	A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.	MSH:D002386|UMLS:C0524524	hp.json		http://purl.obolibrary.org/obo/HP_0010922							
HP:0010923	biolink:PhenotypicFeature	Anterior subcapsular cataract	A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.	SNOMEDCT_US:315352000|UMLS:C1112768	hp.json		http://purl.obolibrary.org/obo/HP_0010923							
HP:0010924	biolink:PhenotypicFeature	Posterior cortical cataract	A cataract that affects the posterior part of the cortex of the lens.	UMLS:C4023650	hp.json		http://purl.obolibrary.org/obo/HP_0010924							
HP:0010925	biolink:PhenotypicFeature	Nuclear punctate cataract		UMLS:C4023649	hp.json		http://purl.obolibrary.org/obo/HP_0010925							
HP:0010926	biolink:PhenotypicFeature	Aculeiform cataract	A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.	MSH:C566162|UMLS:C1861832	hp.json	Fasciculiform cataract|Frosted cataract|Needle-shaped cataract	http://purl.obolibrary.org/obo/HP_0010926							
HP:0010927	biolink:PhenotypicFeature	Abnormal blood inorganic cation concentration	An abnormality of divalent inorganic cation homeostasis.	UMLS:C4023648	hp.json	Abnormality of divalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010927							
HP:0010928	biolink:PhenotypicFeature	obsolete Increased urinary orotic acid concentration			hp.json		http://purl.obolibrary.org/obo/HP_0010928							
HP:0010929	biolink:PhenotypicFeature	Abnormal blood cation concentration	An abnormality of cation homeostasis.	UMLS:C4023646	hp.json	Abnormality of cation homeostasis	http://purl.obolibrary.org/obo/HP_0010929							
HP:0010930	biolink:PhenotypicFeature	Abnormal blood monovalent inorganic cation concentration	An abnormality of monovalent inorganic cation homeostasis.	UMLS:C4023645	hp.json	Abnormality of monovalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010930							
HP:0010931	biolink:PhenotypicFeature	Abnormal blood sodium concentration	An abnormal concentration of sodium.	UMLS:C4023644	hp.json	Abnormal blood Na+ levels|Abnormal circulating Na concentration|Abnormality of sodium homeostasis	http://purl.obolibrary.org/obo/HP_0010931							
HP:0010932	biolink:PhenotypicFeature	Abnormal circulating nucleobase concentration	An abnormality of a nucleobase metabolic process.	UMLS:C4020762|UMLS:C4023643	hp.json	Abnormal nucleoside levels	http://purl.obolibrary.org/obo/HP_0010932							
HP:0010933	biolink:PhenotypicFeature	Hyperxanthinemia	An increased level of xanthine in the blood circulation.	UMLS:C4023642	hp.json		http://purl.obolibrary.org/obo/HP_0010933							
HP:0010934	biolink:PhenotypicFeature	Xanthinuria	An increased concentration of xanthine in the urine.	SNOMEDCT_US:190919008|SNOMEDCT_US:54627004|UMLS:C0220988	hp.json	Increased urinary xanthine	http://purl.obolibrary.org/obo/HP_0010934							
HP:0010935	biolink:PhenotypicFeature	Abnormality of the upper urinary tract	An abnormality of the upper urinary tract.	UMLS:C4023641	hp.json	Abnormality of the upper urinary tract	http://purl.obolibrary.org/obo/HP_0010935							
HP:0010936	biolink:PhenotypicFeature	Abnormality of the lower urinary tract	An abnormality of the lower urinary tract.	UMLS:C4023640	hp.json		http://purl.obolibrary.org/obo/HP_0010936							
HP:0010937	biolink:PhenotypicFeature	Abnormality of the nasal skeleton	An abnormality of the nasal skeleton.	UMLS:C4023639|UMLS:C4280361	hp.json	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							
HP:0010938	biolink:PhenotypicFeature	Abnormality of the external nose	An abnormality of the external nose.	UMLS:C2164724|UMLS:C4023638|UMLS:C4280360	hp.json	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							
HP:0010939	biolink:PhenotypicFeature	Abnormality of the nasal bone	An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.	UMLS:C4023637	hp.json	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							
HP:0010940	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the nasal bone	Absence or underdevelopment of the nasal bone.	UMLS:C4023636	hp.json		http://purl.obolibrary.org/obo/HP_0010940							
HP:0010941	biolink:PhenotypicFeature	Aplasia of the nasal bone	Absence of the nasal bone.	MSH:C562753|SNOMEDCT_US:91900007|UMLS:C0339850|UMLS:C0339851|UMLS:C4023635	hp.json	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							
HP:0010942	biolink:PhenotypicFeature	Echogenic intracardiac focus	A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.	UMLS:C4023634	hp.json		http://purl.obolibrary.org/obo/HP_0010942							
HP:0010943	biolink:PhenotypicFeature	Echogenic fetal bowel	Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.	MSH:D058535|UMLS:C2936423	hp.json	Echogenic foetal bowel|Echogenic bowel	http://purl.obolibrary.org/obo/HP_0010943							
HP:0010944	biolink:PhenotypicFeature	Abnormal renal pelvis morphology	An abnormality of the renal pelvis.	UMLS:C4023633	hp.json	Abnormality of the renal pelvis	http://purl.obolibrary.org/obo/HP_0010944							
HP:0010945	biolink:PhenotypicFeature	Fetal pyelectasis	Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.	MSH:D058536|SNOMEDCT_US:430035004|UMLS:C2317073	hp.json	Foetal pyelectasis|Foetal renal pelvic dilatation|Mild foetal hydronephrosis|Fetal renal pelvic dilatation|Mild fetal hydronephrosis	http://purl.obolibrary.org/obo/HP_0010945							
HP:0010946	biolink:PhenotypicFeature	Dilatation of the renal pelvis	The presence of dilatation of the renal pelvis.	UMLS:C1868864	hp.json		http://purl.obolibrary.org/obo/HP_0010946							
HP:0010947	biolink:PhenotypicFeature	Abnormality of ductus venosus blood flow	A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.	UMLS:C4023632	hp.json		http://purl.obolibrary.org/obo/HP_0010947							
HP:0010948	biolink:PhenotypicFeature	Abnormality of the fetal cardiovascular system	An abnormality of the fetal circulation system or fetal echocardiogram.	UMLS:C4021210	hp.json	Abnormality of the foetal cardiovascular system|Abnormality of the foetal circulation system|Abnormality of the fetal circulation system	http://purl.obolibrary.org/obo/HP_0010948							
HP:0010949	biolink:PhenotypicFeature	Abnormality of umbilical vein blood flow	A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.	UMLS:C4023631	hp.json		http://purl.obolibrary.org/obo/HP_0010949							
HP:0010950	biolink:PhenotypicFeature	Abnormal fourth ventricle morphology	An abnormality of the fourth ventricle.	UMLS:C4023630	hp.json	Abnormality of the fourth ventricle	http://purl.obolibrary.org/obo/HP_0010950							
HP:0010951	biolink:PhenotypicFeature	Abnormal third ventricle morphology	An abnormality of the third ventricle.	UMLS:C4023629	hp.json	Abnormality of the third ventricle	http://purl.obolibrary.org/obo/HP_0010951							
HP:0010952	biolink:PhenotypicFeature	Mild fetal ventriculomegaly	A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).	UMLS:C4023628	hp.json	Mild foetal ventriculomegaly	http://purl.obolibrary.org/obo/HP_0010952							
HP:0010953	biolink:PhenotypicFeature	Noncommunicating hydrocephalus	A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.	MSH:D006849|SNOMEDCT_US:230746009|SNOMEDCT_US:82346000|UMLS:C0549423	hp.json		http://purl.obolibrary.org/obo/HP_0010953							
HP:0010954	biolink:PhenotypicFeature	Hypoplastic right heart	Underdevelopment of the right-sided structures of the heart.	SNOMEDCT_US:268180007|SNOMEDCT_US:39589002|UMLS:C0265856|UMLS:C0344963	hp.json	Underdeveloped right heart|Hypoplastic right heart syndrome	http://purl.obolibrary.org/obo/HP_0010954							
HP:0010955	biolink:PhenotypicFeature	Dilatation of the bladder	The presence of a dilated urinary bladder.	UMLS:C0549253	hp.json		http://purl.obolibrary.org/obo/HP_0010955							
HP:0010956	biolink:PhenotypicFeature	Fetal megacystis	Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.	MSH:C536139|UMLS:C2931117	hp.json	Foetal megacystis	http://purl.obolibrary.org/obo/HP_0010956							
HP:0010957	biolink:PhenotypicFeature	Congenital posterior urethral valve	A developmental defect resulting in an obstructing membrane in the posterior male urethra.	SNOMEDCT_US:253900005|UMLS:C0238506	hp.json	Posterior urethral valve|Posterior urethral valves	http://purl.obolibrary.org/obo/HP_0010957							
HP:0010958	biolink:PhenotypicFeature	Bilateral renal agenesis	A bilateral form of agenesis of the kidney.	MSH:C536482|SNOMEDCT_US:41962002|UMLS:C1609433	hp.json		http://purl.obolibrary.org/obo/HP_0010958							
HP:0010959	biolink:PhenotypicFeature	Congenital cystic adenomatoid malformation of the lung	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.	MSH:D015615|SNOMEDCT_US:111318005|UMLS:C0010668	hp.json	CCAM|Congenital cystic disease of the lung|Cystic adenomatoid lung disease	http://purl.obolibrary.org/obo/HP_0010959							
HP:0010960	biolink:PhenotypicFeature	Bronchopulmonary sequestration	The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.	MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288	hp.json		http://purl.obolibrary.org/obo/HP_0010960							
HP:0010961	biolink:PhenotypicFeature	Intralobar sequestration	A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.	UMLS:C4023627	hp.json		http://purl.obolibrary.org/obo/HP_0010961							
HP:0010962	biolink:PhenotypicFeature	Extralobar sequestration	A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.	UMLS:C4023626	hp.json		http://purl.obolibrary.org/obo/HP_0010962							
HP:0010963	biolink:PhenotypicFeature	Absence of stomach bubble on fetal sonography	By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.	UMLS:C4023625	hp.json	Absence of stomach bubble on foetal sonography	http://purl.obolibrary.org/obo/HP_0010963							
HP:0010964	biolink:PhenotypicFeature	Abnormal circulating long-chain fatty-acid concentration	Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.	UMLS:C4023624	hp.json		http://purl.obolibrary.org/obo/HP_0010964							
HP:0010965	biolink:PhenotypicFeature	Abnormal circulating phytanic acid concentration	Any deviation from the normal concentration of phytanic acid in the blood circulation.	UMLS:C4023623	hp.json	Abnormal circulating phytanic acid level	http://purl.obolibrary.org/obo/HP_0010965							
HP:0010966	biolink:PhenotypicFeature	Abnormal circulating fatty-acid anion concentration	Any deviation from the normal concentration of a fatty acid anion in the blood circulation.	UMLS:C4021209	hp.json	Abnormality of fatty acid anion	http://purl.obolibrary.org/obo/HP_0010966							
HP:0010967	biolink:PhenotypicFeature	Abnormal circulating carnitine concentration	Any deviation from the normal concentration of carnitine in the blood circulation.	UMLS:C4020761|UMLS:C4021855	hp.json	Carnitine levels abnormal	http://purl.obolibrary.org/obo/HP_0010967							
HP:0010968	biolink:PhenotypicFeature	Abnormality of liposaccharide metabolism	An abnormality of liposaccharide metabolism.	UMLS:C4023622	hp.json		http://purl.obolibrary.org/obo/HP_0010968							
HP:0010969	biolink:PhenotypicFeature	Abnormality of glycolipid metabolism	An abnormality of glycolipid metabolism.	UMLS:C4023621	hp.json		http://purl.obolibrary.org/obo/HP_0010969							
HP:0010970	biolink:PhenotypicFeature	Blood group antigen abnormality	An abnormality of an erythrocyte cell surface molecule.	UMLS:C4023620	hp.json		http://purl.obolibrary.org/obo/HP_0010970							
HP:0010971	biolink:PhenotypicFeature	Absence of Lutheran antigen on erythrocytes	Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.	UMLS:C4023619	hp.json		http://purl.obolibrary.org/obo/HP_0010971							
HP:0010972	biolink:PhenotypicFeature	Anemia of inadequate production	A kind of anemia characterized by inadequate production of erythrocytes.	SNOMEDCT_US:70730006|UMLS:C0392708|UMLS:C0678199	hp.json	Anaemia of inadequate production|Dyserythropoietic anaemia|Anemia, dyserythropoietic|Defective erythropoiesis|Dyserythropoietic anemia|Ineffective erythropoiesis	http://purl.obolibrary.org/obo/HP_0010972							
HP:0010974	biolink:PhenotypicFeature	Abnormal myeloid leukocyte morphology	An abnormality of myeloid leukocytes.	UMLS:C4023618	hp.json	Abnormality of myeloid leukocytes	http://purl.obolibrary.org/obo/HP_0010974							
HP:0010975	biolink:PhenotypicFeature	Abnormal B cell count	A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.	UMLS:C4021208	hp.json	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							
HP:0010976	biolink:PhenotypicFeature	B lymphocytopenia	An abnormal decrease from the normal count of B cells.	UMLS:C1855067	hp.json	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							
HP:0010977	biolink:PhenotypicFeature	Abnormal phagocytosis	An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.	UMLS:C4023617	hp.json		http://purl.obolibrary.org/obo/HP_0010977							
HP:0010978	biolink:PhenotypicFeature	Abnormality of immune system physiology	A functional abnormality of the immune system.	UMLS:C4023616	hp.json		http://purl.obolibrary.org/obo/HP_0010978							
HP:0010979	biolink:PhenotypicFeature	Abnormality of lipoprotein cholesterol concentration	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.	UMLS:C4023615	hp.json	Abnormality of the level of lipoprotein cholesterol	http://purl.obolibrary.org/obo/HP_0010979							
HP:0010980	biolink:PhenotypicFeature	Hyperlipoproteinemia	An abnormal increase in the level of lipoprotein cholesterol in the blood.	MSH:D006951|SNOMEDCT_US:3744001|UMLS:C0020476	hp.json		http://purl.obolibrary.org/obo/HP_0010980							
HP:0010981	biolink:PhenotypicFeature	Hypolipoproteinemia	An abnormal decrease in the level of lipoprotein cholesterol in the blood.	MSH:D007009|SNOMEDCT_US:267436001|SNOMEDCT_US:363140000|UMLS:C0020623	hp.json	Lack of fat in blood	http://purl.obolibrary.org/obo/HP_0010981							
HP:0010982	biolink:PhenotypicFeature	Polygenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.	MSH:D020412|UMLS:C1148552	hp.json		http://purl.obolibrary.org/obo/HP_0010982							
HP:0010983	biolink:PhenotypicFeature	Oligogenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.	MSH:D020412|UMLS:C1136026	hp.json		http://purl.obolibrary.org/obo/HP_0010983							
HP:0010984	biolink:PhenotypicFeature	Digenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of two gene loci.	UMLS:C4023614	hp.json		http://purl.obolibrary.org/obo/HP_0010984							
HP:0010985	biolink:PhenotypicFeature	Gonosomal inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.	UMLS:C4023613	hp.json		http://purl.obolibrary.org/obo/HP_0010985							
HP:0010987	biolink:PhenotypicFeature	Abnormal cellular immune system morphology	An abnormality of the morphology or counts of the cells that make up the immune system.	UMLS:C4023612	hp.json		http://purl.obolibrary.org/obo/HP_0010987							
HP:0010988	biolink:PhenotypicFeature	Abnormality of the extrinsic pathway	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.	UMLS:C4023611	hp.json		http://purl.obolibrary.org/obo/HP_0010988							
HP:0010989	biolink:PhenotypicFeature	Abnormality of the intrinsic pathway	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.	UMLS:C4023610	hp.json		http://purl.obolibrary.org/obo/HP_0010989							
HP:0010990	biolink:PhenotypicFeature	Abnormality of the common coagulation pathway	An abnormality of blood coagulation, common pathway.	UMLS:C4023609	hp.json		http://purl.obolibrary.org/obo/HP_0010990							
HP:0010991	biolink:PhenotypicFeature	Abnormal morphology of the abdominal musculature	An abnormality of the abdominal musculature.	UMLS:C4023608	hp.json	Abnormality of the abdominal musculature	http://purl.obolibrary.org/obo/HP_0010991							
HP:0010992	biolink:PhenotypicFeature	Stress urinary incontinence	Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.	MSH:D014550|SNOMEDCT_US:22220005|UMLS:C0042025	hp.json		http://purl.obolibrary.org/obo/HP_0010992							
HP:0010993	biolink:PhenotypicFeature	Abnormality of the cerebral subcortex	An abnormality of the cerebral subcortex.	UMLS:C4021207	hp.json	Abnormality of the cerebral medulla	http://purl.obolibrary.org/obo/HP_0010993							
HP:0010994	biolink:PhenotypicFeature	Abnormal corpus striatum morphology	Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.	UMLS:C4023607	hp.json	Abnormality of the neostriatum|Abnormality of the striate nucleus|Abnormality of the striatum	http://purl.obolibrary.org/obo/HP_0010994							
HP:0010995	biolink:PhenotypicFeature	Abnormal circulating dicarboxylic acid concentration	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.	UMLS:C4023606	hp.json		http://purl.obolibrary.org/obo/HP_0010995							
HP:0010996	biolink:PhenotypicFeature	Abnormal circulating monocarboxylic acid cocentration	Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.	UMLS:C4023605	hp.json		http://purl.obolibrary.org/obo/HP_0010996							
HP:0010997	biolink:PhenotypicFeature	Chromosomal breakage induced by ionizing radiation	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.	UMLS:C4021206	hp.json	Chromosomal breakage induced by ionising radiation|Increased cellular radiosensitivity|Radiation-induced chromosome instability	http://purl.obolibrary.org/obo/HP_0010997							
HP:0010998	biolink:PhenotypicFeature	Increased susceptibility to spontaneous sister chromatid exchange	An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.	UMLS:C4023604	hp.json		http://purl.obolibrary.org/obo/HP_0010998							
HP:0010999	biolink:PhenotypicFeature	Aplasia of the optic tract		UMLS:C4023603	hp.json	Absent optic tract	http://purl.obolibrary.org/obo/HP_0010999							
HP:0011000	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the optic tract		UMLS:C4023602	hp.json	Absent/small optic tract|Absent/underdeveloped optic tract	http://purl.obolibrary.org/obo/HP_0011000							
HP:0011001	biolink:PhenotypicFeature	Increased bone mineral density	An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.	MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464	hp.json	Increased bone density|Increased bone mineral density|Osteosclerosis|Osteosclerosis of bones	http://purl.obolibrary.org/obo/HP_0011001							
HP:0011002	biolink:PhenotypicFeature	Osteopetrosis	Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.	MSH:D010022|SNOMEDCT_US:1926006|SNOMEDCT_US:367489004|UMLS:C0029454	hp.json	Harder, denser, fracture-prone bones|Albers-Schoenberg disease|Albers-Schonberg disease|Albers-Schönberg disease|Marble bone disease	http://purl.obolibrary.org/obo/HP_0011002							
HP:0011003	biolink:PhenotypicFeature	High myopia	A severe form of myopia with greater than -6.00 diopters.	SNOMEDCT_US:34187009|UMLS:C0271183	hp.json	Severe near sightedness|Severely close sighted|Severely near sighted|Severe myopia|Severe myopia (> -6.00 diopters)	http://purl.obolibrary.org/obo/HP_0011003							hposlim_core
HP:0011004	biolink:PhenotypicFeature	Abnormal systemic arterial morphology	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.	Fyler:2600|SNOMEDCT_US:234119001|UMLS:C0151489|UMLS:C4021205	hp.json	Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality|Arterial abnormalities	http://purl.obolibrary.org/obo/HP_0011004							
HP:0011005	biolink:PhenotypicFeature	Mixed cirrhosis	A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.	UMLS:C1392669	hp.json		http://purl.obolibrary.org/obo/HP_0011005							
HP:0011006	biolink:PhenotypicFeature	Abnormal morphology of the musculature of the neck	An abnormality of the neck musculature.	UMLS:C4023601	hp.json	Abnormality of the musculature of the neck|Neck muscle issue|Abnormality of cervical musculature	http://purl.obolibrary.org/obo/HP_0011006							
HP:0011008	biolink:PhenotypicFeature	Temporal pattern	The speed at which disease manifestations appear and develop.	UMLS:C4021204	hp.json	Speed of onset	http://purl.obolibrary.org/obo/HP_0011008							
HP:0011009	biolink:PhenotypicFeature	Acute	Sudden appearance of disease manifestations over a short period of time.	SNOMEDCT_US:272118002|UMLS:C0205178	hp.json	Acute onset	http://purl.obolibrary.org/obo/HP_0011009							
HP:0011010	biolink:PhenotypicFeature	Chronic	Slow, creeping onset, slow progress and long continuance of disease manifestations.	SNOMEDCT_US:90734009|UMLS:C0205191	hp.json	Chronic	http://purl.obolibrary.org/obo/HP_0011010							
HP:0011011	biolink:PhenotypicFeature	Subacute	Somewhat rapid onset and change of disease manifestations.	SNOMEDCT_US:19939008|UMLS:C0205365	hp.json		http://purl.obolibrary.org/obo/HP_0011011							
HP:0011012	biolink:PhenotypicFeature	Abnormal circulating polysaccharide concentration	A deviation from the normal concentration of a polysaccharide in the blood circulation.	UMLS:C4023600	hp.json		http://purl.obolibrary.org/obo/HP_0011012							
HP:0011013	biolink:PhenotypicFeature	Abnormal circulating carbohydrate concentration	A deviation from the normal concentration of a carbohydrate in the blood circulation.	UMLS:C4023599	hp.json		http://purl.obolibrary.org/obo/HP_0011013							
HP:0011014	biolink:PhenotypicFeature	Abnormal glucose homeostasis	Abnormality of glucose homeostasis.	UMLS:C4023598	hp.json		http://purl.obolibrary.org/obo/HP_0011014							
HP:0011015	biolink:PhenotypicFeature	Abnormal blood glucose concentration	An abnormality of the concentration of glucose in the blood.	UMLS:C4023597	hp.json	Abnormality of blood glucose concentration	http://purl.obolibrary.org/obo/HP_0011015							
HP:0011016	biolink:PhenotypicFeature	Abnormality of urine glucose concentration	An abnormality of the concentration of glucose in the urine.	UMLS:C4023596	hp.json		http://purl.obolibrary.org/obo/HP_0011016							
HP:0011017	biolink:PhenotypicFeature	Abnormal cellular physiology	An abnormality in a cellular process.	UMLS:C4023595	hp.json	Abnormality of cell physiology	http://purl.obolibrary.org/obo/HP_0011017							
HP:0011018	biolink:PhenotypicFeature	Abnormality of the cell cycle	An abnormality of the cell cycle.	UMLS:C4023594	hp.json	Abnormality of the cell cycle	http://purl.obolibrary.org/obo/HP_0011018							
HP:0011019	biolink:PhenotypicFeature	Abnormality of chromosome condensation	An abnormality of chromosome condensation.	UMLS:C4023593	hp.json		http://purl.obolibrary.org/obo/HP_0011019							
HP:0011020	biolink:PhenotypicFeature	Abnormality of mucopolysaccharide metabolism	An abnormality of the metabolism of mucopolysaccharide.	UMLS:C4023592	hp.json		http://purl.obolibrary.org/obo/HP_0011020							
HP:0011021	biolink:PhenotypicFeature	Abnormality of circulating enzyme level		UMLS:C4023591	hp.json		http://purl.obolibrary.org/obo/HP_0011021							
HP:0011022	biolink:PhenotypicFeature	Abnormal circulating unsaturated fatty acid concentration	A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.	UMLS:C4023590	hp.json		http://purl.obolibrary.org/obo/HP_0011022							
HP:0011023	biolink:PhenotypicFeature	Abnormal circulating prostaglandin circulation	Any deviation from the normal concentration of a prostaglandin in the blood circulation.	UMLS:C4023589	hp.json		http://purl.obolibrary.org/obo/HP_0011023							
HP:0011024	biolink:PhenotypicFeature	Abnormality of the gastrointestinal tract	An abnormality of the gastrointestinal tract.	MSH:D004066|MSH:D005767|SNOMEDCT_US:119292006|SNOMEDCT_US:25374005|SNOMEDCT_US:53619000|UMLS:C0012242|UMLS:C0017178|UMLS:C4023588	hp.json	Abnormality of the GI tract|Abnormality of the gastrointestinal tract|Digestive system disease|Gastrointestinal disease	http://purl.obolibrary.org/obo/HP_0011024							
HP:0011025	biolink:PhenotypicFeature	Abnormal cardiovascular system physiology	Abnormal functionality of the cardiovascular system.	UMLS:C4023587	hp.json	Abnormality of cardiovascular system physiology	http://purl.obolibrary.org/obo/HP_0011025							
HP:0011026	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the vagina	Aplasia or developmental hypoplasia of the vagina.	UMLS:C4023586	hp.json	Absent/small vagina|Absent/underdeveloped vagina	http://purl.obolibrary.org/obo/HP_0011026							
HP:0011027	biolink:PhenotypicFeature	Abnormal fallopian tube morphology	An abnormality of the fallopian tube.	UMLS:C0281842	hp.json	Abnormality of the fallopian tube	http://purl.obolibrary.org/obo/HP_0011027							
HP:0011028	biolink:PhenotypicFeature	Abnormality of blood circulation	An abnormality of blood circulation.	UMLS:C4020760|UMLS:C4023585	hp.json	Blood circulation disorder	http://purl.obolibrary.org/obo/HP_0011028							
HP:0011029	biolink:PhenotypicFeature	Internal hemorrhage	The presence of hemorrhage within the body.	UMLS:C1390214	hp.json	Internal bleeding|Internal haemorrhage	http://purl.obolibrary.org/obo/HP_0011029							
HP:0011030	biolink:PhenotypicFeature	Abnormal blood transition element cation concentration	An abnormality of the homeostasis (concentration) of transition element cation.	UMLS:C4023584	hp.json	Abnormality of transition element cation homeostasis	http://purl.obolibrary.org/obo/HP_0011030							
HP:0011031	biolink:PhenotypicFeature	Abnormality of iron homeostasis	An abnormality of the homeostasis (concentration) of iron cation.	UMLS:C4023583	hp.json		http://purl.obolibrary.org/obo/HP_0011031							
HP:0011032	biolink:PhenotypicFeature	Abnormality of fluid regulation	An abnormality of the regulation of body fluids.	SNOMEDCT_US:1860003|SNOMEDCT_US:190902006|UMLS:C2364164	hp.json	Abnormality of fluid regulation|Fluid imbalance	http://purl.obolibrary.org/obo/HP_0011032							
HP:0011033	biolink:PhenotypicFeature	Impairment of fructose metabolism	An impairment of a fructose metabolic process.	UMLS:C4023581	hp.json		http://purl.obolibrary.org/obo/HP_0011033							
HP:0011034	biolink:PhenotypicFeature	Amyloidosis	The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.	MSH:D000686|SNOMEDCT_US:17602002|UMLS:C0002726	hp.json	Amyloid disease	http://purl.obolibrary.org/obo/HP_0011034							
HP:0011035	biolink:PhenotypicFeature	Abnormal renal cortex morphology	An abnormality of the cortex of the kidney.	UMLS:C4023580	hp.json	Abnormality of renal cortex morphology	http://purl.obolibrary.org/obo/HP_0011035							
HP:0011036	biolink:PhenotypicFeature	Abnormality of renal excretion	An altered ability of the kidneys to void urine and/or specific substances.	MP:0005555|UMLS:C4023579	hp.json		http://purl.obolibrary.org/obo/HP_0011036							
HP:0011037	biolink:PhenotypicFeature	Decreased urine output	A decreased rate of urine production.	UMLS:C3887784	hp.json		http://purl.obolibrary.org/obo/HP_0011037							
HP:0011038	biolink:PhenotypicFeature	Abnormal renal resorption	An abnormality of renal absorption.	UMLS:C4023578	hp.json	Abnormality of renal resorption	http://purl.obolibrary.org/obo/HP_0011038							
HP:0011039	biolink:PhenotypicFeature	Abnormality of the helix	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.	UMLS:C1856660	hp.json	Abnormal helices|Helix abnormal	http://purl.obolibrary.org/obo/HP_0011039							hposlim_core
HP:0011040	biolink:PhenotypicFeature	Abnormality of the intrahepatic bile duct	An abnormality of the intrahepatic bile duct.	UMLS:C4023577	hp.json		http://purl.obolibrary.org/obo/HP_0011040							
HP:0011041	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cervical spine	Aplasia or developmental hypoplasia of the cervical vertebral column.	UMLS:C4023576	hp.json	Absent/small cervical spine|Absent/underdeveloped cervical spine	http://purl.obolibrary.org/obo/HP_0011041							
HP:0011042	biolink:PhenotypicFeature	Abnormal blood potassium concentration	An abnormal concentration of potassium.	UMLS:C4023575	hp.json	Abnormal blood K concentration|Abnormality of potassium homeostasis	http://purl.obolibrary.org/obo/HP_0011042							
HP:0011043	biolink:PhenotypicFeature	Abnormality of circulating adrenocorticotropin level	An abnormal concentration of corticotropin in the blood.	UMLS:C4023574	hp.json	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							
HP:0011044	biolink:PhenotypicFeature	Abnormal number of permanent teeth	The presence of an altered number of of permanent teeth.	UMLS:C4023573	hp.json	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							
HP:0011045	biolink:PhenotypicFeature	Agenesis of permanent maxillary central incisor	Agenesis of upper secondary incisor.	UMLS:C4023572|UMLS:C4280358|UMLS:C4280359	hp.json	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							
HP:0011046	biolink:PhenotypicFeature	Agenesis of primary maxillary central incisor	Agenesis of upper central primary incisor.	UMLS:C4023571|UMLS:C4280357	hp.json	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							
HP:0011047	biolink:PhenotypicFeature	Agenesis of primary mandibular central incisor	Agenesis of lower primary incisor.	UMLS:C4023570|UMLS:C4280355|UMLS:C4280356	hp.json	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							
HP:0011048	biolink:PhenotypicFeature	Agenesis of permanent mandibular central incisor	Agenesis of lower secondary incisor.	UMLS:C4023569|UMLS:C4280354	hp.json	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							
HP:0011049	biolink:PhenotypicFeature	Agenesis of primary maxillary lateral incisor	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.	UMLS:C4023568|UMLS:C4280353	hp.json	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							
HP:0011050	biolink:PhenotypicFeature	Agenesis of permanent maxillary lateral incisor	Agenesis of one or more upper lateral secondary incisor.	UMLS:C4023567|UMLS:C4280352	hp.json	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							
HP:0011051	biolink:PhenotypicFeature	Agenesis of premolar	Agenesis of premolar tooth.	UMLS:C4023566|UMLS:C4280351	hp.json	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							
HP:0011052	biolink:PhenotypicFeature	Agenesis of maxillary premolar	Agenesis of maxillary premolar.	UMLS:C4023565|UMLS:C4280350	hp.json	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							
HP:0011053	biolink:PhenotypicFeature	Agenesis of mandibular premolar	Agenesis of mandibular premolar.	UMLS:C4023564|UMLS:C4280349	hp.json	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							
HP:0011054	biolink:PhenotypicFeature	Agenesis of molar	Agenesis of molar tooth.	UMLS:C4021203|UMLS:C4280348	hp.json	Absent molars|Absence of molar|Missing molar|Failure of development of molar	http://purl.obolibrary.org/obo/HP_0011054							
HP:0011055	biolink:PhenotypicFeature	Agenesis of permanent molar	Agenesis of secondary molar tooth.	UMLS:C4023563|UMLS:C4280347	hp.json	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							
HP:0011056	biolink:PhenotypicFeature	Agenesis of first permanent molar tooth	Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.	UMLS:C4023562|UMLS:C4280346	hp.json	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							
HP:0011057	biolink:PhenotypicFeature	Agenesis of second permanent molar	Agenesis of either mandibular second permanent molar or maxillary second permanent molar.	UMLS:C4023561|UMLS:C4280257	hp.json	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							
HP:0011058	biolink:PhenotypicFeature	Generalized periodontitis	A generalized form of periodontitis.	UMLS:C4023560|UMLS:C4280345	hp.json	Widespread gum disease|Generalised gum disease|Generalised periodontal disease|Generalised periodontitis|Generalized gum disease|Generalized periodontal disease	http://purl.obolibrary.org/obo/HP_0011058							
HP:0011059	biolink:PhenotypicFeature	Localized periodontitis	A localized form of periodontitis.	UMLS:C4023559|UMLS:C4280344	hp.json	Limited area of gum disease|Localized gum disease|Localised gum disease|Localised periodontal disease|Localised periodontitis|Localized periodontal disease	http://purl.obolibrary.org/obo/HP_0011059							
HP:0011060	biolink:PhenotypicFeature	Dentinogenesis imperfecta limited to primary teeth	Developmental dysplasia of dentin affecting only the primary dentition.	MSH:D003805|SNOMEDCT_US:109492001|UMLS:C0011430|UMLS:C4023558	hp.json	Dentinogenesis imperfecta of baby teeth	http://purl.obolibrary.org/obo/HP_0011060							
HP:0011061	biolink:PhenotypicFeature	Abnormality of dental structure	An abnormality of the structure or composition of the teeth.	UMLS:C4023557	hp.json	Abnormality of tooth part|Abnormality of tooth structure	http://purl.obolibrary.org/obo/HP_0011061							
HP:0011062	biolink:PhenotypicFeature	Misalignment of incisors	Misaligned incisor.	UMLS:C4023556|UMLS:C4280343	hp.json	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							
HP:0011063	biolink:PhenotypicFeature	Abnormal incisor morphology	An abnormality of morphology of the incisor tooth.	UMLS:C4023555	hp.json	Abnormality of shape of incisor|Abnormality of incisor morphology	http://purl.obolibrary.org/obo/HP_0011063							
HP:0011064	biolink:PhenotypicFeature	Abnormal number of incisors	The presence of an altered number of the incisor teeth.	UMLS:C4023554	hp.json	Abnormal number of front teeth|Abnormal number of incisors	http://purl.obolibrary.org/obo/HP_0011064							
HP:0011065	biolink:PhenotypicFeature	Conical incisor	An abnormal conical morphology of the incisor tooth.	UMLS:C1856136|UMLS:C4020759|UMLS:C4280341|UMLS:C4280342	hp.json	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							
HP:0011067	biolink:PhenotypicFeature	Mesiodens	A supernumerary tooth in the midline between the maxillary central incisors.	MSH:D014096|SNOMEDCT_US:17802000|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457|UMLS:C0266030|UMLS:C4280340	hp.json	Extra tooth|Extra tooth in the midline|Median supernumary tooth|Midline supernumary tooth|Mesiodentes	http://purl.obolibrary.org/obo/HP_0011067							
HP:0011068	biolink:PhenotypicFeature	Odontoma	The presence of an odontoma.	MSH:D009810|SNOMEDCT_US:79074005|UMLS:C0028882	hp.json	Odontomas	http://purl.obolibrary.org/obo/HP_0011068							
HP:0011069	biolink:PhenotypicFeature	Supernumerary tooth	The presence of one or more teeth additional to the normal number.	MSH:D014096|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457	hp.json	Extra teeth|Increased number of teeth|Increased tooth count|Supplemental teeth|More teeth than normal|Hyperdontia|Supernumerary teeth|Supplemental dentition|Tooth, supernumerary|Supernumary dentition|Supernumary teeth	http://purl.obolibrary.org/obo/HP_0011069							hposlim_core
HP:0011070	biolink:PhenotypicFeature	Abnormal molar morphology	An abnormality of morphology of molar tooth.	UMLS:C4023553	hp.json	Abnormal shape of molar tooth|Abnormality of molar morphology	http://purl.obolibrary.org/obo/HP_0011070							
HP:0011071	biolink:PhenotypicFeature	Abnormality of permanent molar morphology	An abnormality of morphology of permanent molar.	UMLS:C4023552	hp.json	Abnormality of shape of adult molar|Abnormality of shape of permanent molar	http://purl.obolibrary.org/obo/HP_0011071							
HP:0011072	biolink:PhenotypicFeature	Rootless teeth		MSH:C538215|SNOMEDCT_US:109493006|UMLS:C0399379|UMLS:C4082200	hp.json	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	biolink:PhenotypicFeature	Abnormality of dental color	A developmental defect of tooth color.	UMLS:C4023551	hp.json	Abnormality of dental color|Abnormality of tooth color|Abnormality of tooth shade|Abnormality of dental colour|Abnormality of tooth colour|Abnormality of dental shade	http://purl.obolibrary.org/obo/HP_0011073							
HP:0011074	biolink:PhenotypicFeature	Localized hypoplasia of dental enamel	A localized form of developmental hypoplasia of the dental enamel.	UMLS:C4023550|UMLS:C4280339	hp.json	Localised hypoplasia of dental enamel|Localised hypoplasia of tooth enamel|Localised dysplasia of tooth enamel|Localized hypoplasia of tooth enamel|Localized dysplasia of tooth enamel	http://purl.obolibrary.org/obo/HP_0011074							
HP:0011075	biolink:PhenotypicFeature	Green teeth	A green staining of teeth.	UMLS:C4023549	hp.json	Green colored teeth|Green teeth|Green coloured teeth|Green tooth shade	http://purl.obolibrary.org/obo/HP_0011075							
HP:0011076	biolink:PhenotypicFeature	Abnormality of premolar	An abnormality of premolar tooth.	UMLS:C4023548	hp.json	Abnormality of premolar|Abnormality of bicuspid	http://purl.obolibrary.org/obo/HP_0011076							
HP:0011077	biolink:PhenotypicFeature	Abnormality of molar	An abnormality of molar tooth.	UMLS:C4023547	hp.json	Abnormality of molar	http://purl.obolibrary.org/obo/HP_0011077							
HP:0011078	biolink:PhenotypicFeature	Abnormality of canine	An abnormality of canine tooth.	UMLS:C4023546	hp.json	Abnormality of canine|Abnormality of eye tooth	http://purl.obolibrary.org/obo/HP_0011078							
HP:0011079	biolink:PhenotypicFeature	Impacted tooth	A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).	MSH:D014095|SNOMEDCT_US:129263008|SNOMEDCT_US:235104008|UMLS:C0040456|UMLS:C4280338	hp.json	Buried tooth|Impacted tooth|Retained tooth	http://purl.obolibrary.org/obo/HP_0011079							hposlim_core
HP:0011080	biolink:PhenotypicFeature	Abnormal premolar morphology	An abnormality of morphology of premolar tooth.	UMLS:C4023545	hp.json	Abnormality of shape of premolar|Abnormality of bicuspid morphology|Abnormality of premolar morphology|Abnormality of shape of bicuspid	http://purl.obolibrary.org/obo/HP_0011080							
HP:0011081	biolink:PhenotypicFeature	Incisor macrodontia	Increased size of the incisor tooth.	UMLS:C4023544|UMLS:C4280337	hp.json	Increased size of incisor|Large incisor|Increased width of incisor|Hyperplasia of incisor|Hypertrophy of incisor	http://purl.obolibrary.org/obo/HP_0011081							
HP:0011082	biolink:PhenotypicFeature	Conical primary incisor	An abnormal conical morphology of the primary incisor.	UMLS:C4023543	hp.json	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							
HP:0011083	biolink:PhenotypicFeature	Conical maxillary incisor	An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.	UMLS:C4023542	hp.json	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							
HP:0011084	biolink:PhenotypicFeature	Hypocalcification of dental enamel	A form of hypomineralization of enamel characterized by reduced calcification.	UMLS:C4023541	hp.json	Decreased enamel calcification|Poorly calcified tooth enamel	http://purl.obolibrary.org/obo/HP_0011084							
HP:0011085	biolink:PhenotypicFeature	Hypomature dental enamel	A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.	UMLS:C4023540|UMLS:C4280266|UMLS:C4280336	hp.json	Soft teeth|Soft tooth enamel|Immature tooth enamel	http://purl.obolibrary.org/obo/HP_0011085							
HP:0011086	biolink:PhenotypicFeature	Dentinogenesis imperfecta of primary and permanent teeth	Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.	UMLS:C4023539	hp.json	Dentinogenesis imperfecta of adult and baby teeth|Dentinogenesis imperfecta of both sets of teeth	http://purl.obolibrary.org/obo/HP_0011086							
HP:0011087	biolink:PhenotypicFeature	Talon cusp	Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).	SNOMEDCT_US:234955005|SNOMEDCT_US:63691004|UMLS:C0266034|UMLS:C0399357|UMLS:C4280335	hp.json	Extra cusp on inside of front tooth|Dens evaginatus|Talon cusps	http://purl.obolibrary.org/obo/HP_0011087							hposlim_core
HP:0011088	biolink:PhenotypicFeature	Dens in dente	An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.	MSH:D003719|SNOMEDCT_US:55197001|UMLS:C0011320	hp.json	Tooth within a tooth|Dens invaginatus	http://purl.obolibrary.org/obo/HP_0011088							
HP:0011089	biolink:PhenotypicFeature	Double tooth	Fusion of two adjacent teeth.	MSH:D005671|SNOMEDCT_US:1744008|UMLS:C0016873	hp.json	Conjoined teeth|Double tooth|Teeth, double|Twinning tooth	http://purl.obolibrary.org/obo/HP_0011089							
HP:0011090	biolink:PhenotypicFeature	Fused teeth	The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.	MSH:D005671|SNOMEDCT_US:1744008|UMLS:C0016873	hp.json	Fused teeth|Fusion of teeth|Joined teeth	http://purl.obolibrary.org/obo/HP_0011090							hposlim_core
HP:0011091	biolink:PhenotypicFeature	Gemination	The development of two teeth from a single tooth bud, leading to a larger fused tooth.	SNOMEDCT_US:40273006|UMLS:C0266033	hp.json	Splitting of crown of tooth|Gemination of tooth	http://purl.obolibrary.org/obo/HP_0011091							
HP:0011092	biolink:PhenotypicFeature	Mulberry molar	Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.	SNOMEDCT_US:109436001|UMLS:C0266024	hp.json	Syphilitic permanent first molar	http://purl.obolibrary.org/obo/HP_0011092							
HP:0011093	biolink:PhenotypicFeature	Molarization of premolar	Increased size and molar morphology of premolar tooth.	UMLS:C1404304|UMLS:C4280334	hp.json	Molar shape of premolar|Enlarged premolar|Increased size of premolar|Molar shape of bicuspid|Molarization of bicuspid	http://purl.obolibrary.org/obo/HP_0011093							
HP:0011094	biolink:PhenotypicFeature	Increased overbite	Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.	MSH:D057887|SNOMEDCT_US:10816007|SNOMEDCT_US:251293001|SNOMEDCT_US:60476005|SNOMEDCT_US:63783001|UMLS:C0266063|UMLS:C0266067|UMLS:C1305740	hp.json	Overbite|Deep bite|Deep overbite|Scissors bite|Increased overlap of upper and lower incisors|Supraocclusion	http://purl.obolibrary.org/obo/HP_0011094							
HP:0011095	biolink:PhenotypicFeature	Overjet	An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.	MSH:D057887|SNOMEDCT_US:251292006|SNOMEDCT_US:70305005|UMLS:C0596028	hp.json	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							
HP:0011096	biolink:PhenotypicFeature	Peripheral demyelination	A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	UMLS:C0878575	hp.json	Demyelination	http://purl.obolibrary.org/obo/HP_0011096							
HP:0011097	biolink:PhenotypicFeature	Epileptic spasm	A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages	MSH:D013036|SNOMEDCT_US:28055006|UMLS:C0037769|UMLS:C1527366	hp.json	Epileptic spasms|Salaam convulsions|Salaam seizures|Salaam convulsion|Salaam seizure|West syndrome	http://purl.obolibrary.org/obo/HP_0011097							
HP:0011098	biolink:PhenotypicFeature	Speech apraxia	A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.	MSH:D001072|SNOMEDCT_US:361276003|SNOMEDCT_US:361277007|SNOMEDCT_US:74227009|UMLS:C0264611|UMLS:C0349391	hp.json	Apraxia of speech|Verbal dyspraxia	http://purl.obolibrary.org/obo/HP_0011098							
HP:0011099	biolink:PhenotypicFeature	Spastic hemiparesis	Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.	MSH:D006429|SNOMEDCT_US:79633009|UMLS:C0154694	hp.json	Spastic hemiplegia	http://purl.obolibrary.org/obo/HP_0011099							
HP:0011100	biolink:PhenotypicFeature	Intestinal atresia	An abnormal closure, or atresia of the tubular structure of the intestine.	MSH:D007409|UMLS:C0021828	hp.json		http://purl.obolibrary.org/obo/HP_0011100							
HP:0011102	biolink:PhenotypicFeature	Ileal atresia	An abnormal closure, or atresia of the tubular structure of the ileum.	SNOMEDCT_US:25896009|UMLS:C0266176	hp.json		http://purl.obolibrary.org/obo/HP_0011102							
HP:0011103	biolink:PhenotypicFeature	Abnormal left ventricular outflow tract morphology	An abnormality of the outflow tract of the left ventricle.	SNOMEDCT_US:253545000|UMLS:C0344916	hp.json	Abnormality of the left ventricular outflow tract	http://purl.obolibrary.org/obo/HP_0011103							
HP:0011104	biolink:PhenotypicFeature	Abnormality of blood volume homeostasis	An abnormality in the amount of volume occupied by intravascular blood.	UMLS:C4023537	hp.json		http://purl.obolibrary.org/obo/HP_0011104							
HP:0011105	biolink:PhenotypicFeature	Hypervolemia	An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.	SNOMEDCT_US:21639008|UMLS:C0546817	hp.json	Fluid overload in blood	http://purl.obolibrary.org/obo/HP_0011105							
HP:0011106	biolink:PhenotypicFeature	Hypovolemia	An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.	MSH:D020896|SNOMEDCT_US:28560003|UMLS:C0546884	hp.json	Depleted blood volume	http://purl.obolibrary.org/obo/HP_0011106							
HP:0011107	biolink:PhenotypicFeature	Recurrent aphthous stomatitis	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	MSH:D013281|SNOMEDCT_US:110426005|SNOMEDCT_US:398870000|SNOMEDCT_US:426965005|SNOMEDCT_US:427617000|UMLS:C0038363|UMLS:C2937365	hp.json	Recurrent canker sores|Recurrent oral aphthae|Aphthous stomatitis|Buccal aphthous ulcers|Recurrent aphthous ulcers	http://purl.obolibrary.org/obo/HP_0011107							
HP:0011108	biolink:PhenotypicFeature	Recurrent sinusitis	A recurrent form of sinusitis.	SNOMEDCT_US:195788001|UMLS:C0581354|UMLS:C4280333	hp.json	Recurrent sinus disease|Sinusitis, recurrent	http://purl.obolibrary.org/obo/HP_0011108							
HP:0011109	biolink:PhenotypicFeature	Chronic sinusitis	A chronic form of sinusitis.	SNOMEDCT_US:40055000|UMLS:C0149516|UMLS:C0748720	hp.json	Chronic sinus disease|Sinusitis, chronic	http://purl.obolibrary.org/obo/HP_0011109							
HP:0011110	biolink:PhenotypicFeature	Recurrent tonsillitis	Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.	MSH:D014069|SNOMEDCT_US:90176007|UMLS:C0040425	hp.json	IRecurrent inflammation of tonsils	http://purl.obolibrary.org/obo/HP_0011110							
HP:0011111	biolink:PhenotypicFeature	Abnormality of immune serum protein physiology	An abnormality of the concentration or function of circulating immune proteins.	UMLS:C4023536	hp.json		http://purl.obolibrary.org/obo/HP_0011111							
HP:0011112	biolink:PhenotypicFeature	Abnormality of serum cytokine level	Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.	MP:0010210|UMLS:C4023535	hp.json		http://purl.obolibrary.org/obo/HP_0011112							
HP:0011113	biolink:PhenotypicFeature	Abnormality of cytokine secretion	An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).	MP:0003009|UMLS:C4023534	hp.json		http://purl.obolibrary.org/obo/HP_0011113							
HP:0011114	biolink:PhenotypicFeature	Defective production of NFKB1-dependent cytokines	An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.	UMLS:C4023533	hp.json		http://purl.obolibrary.org/obo/HP_0011114							
HP:0011115	biolink:PhenotypicFeature	Abnormality of chemokine secretion	An abnormality in the production or cellular release of a chemokine (a class of cytokines).	UMLS:C4023532	hp.json		http://purl.obolibrary.org/obo/HP_0011115							
HP:0011116	biolink:PhenotypicFeature	Abnormality of interferon secretion	An abnormality in the production or cellular release of interferons (a class of cytokines).	UMLS:C4023531	hp.json		http://purl.obolibrary.org/obo/HP_0011116							
HP:0011117	biolink:PhenotypicFeature	Abnormality of interleukin secretion	An abnormality in the production or cellular release of interleukins (a class of cytokines).	UMLS:C4023530	hp.json	Abnormality of IL secretion	http://purl.obolibrary.org/obo/HP_0011117							
HP:0011118	biolink:PhenotypicFeature	Abnormality of tumor necrosis factor secretion	An abnormality in the production or cellular release of tumor necrosis factor.	MP:0008556|UMLS:C4023529	hp.json	Abnormality of tumour necrosis factor secretion|Abnormality of cachectin secretion|Abnormality of cachexin secretion	http://purl.obolibrary.org/obo/HP_0011118							
HP:0011119	biolink:PhenotypicFeature	Abnormality of the nasal dorsum	An abnormality of the nasal dorsum, also known as the nasal ridge.	UMLS:C4021202|UMLS:C4280332	hp.json	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							
HP:0011120	biolink:PhenotypicFeature	Concave nasal ridge	Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.	SNOMEDCT_US:710234009|UMLS:C0264169	hp.json	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							hposlim_core
HP:0011121	biolink:PhenotypicFeature	Abnormality of skin morphology	Any morphological abnormality of the skin.	Fyler:4133|UMLS:C4023528	hp.json	Abnormal skin structure|Abnormal skin morphology	http://purl.obolibrary.org/obo/HP_0011121							
HP:0011122	biolink:PhenotypicFeature	Abnormality of skin physiology	Any abnormality of the physiological function of the skin.	UMLS:C4023527	hp.json	Abnormality of skin physiology	http://purl.obolibrary.org/obo/HP_0011122							
HP:0011123	biolink:PhenotypicFeature	Inflammatory abnormality of the skin	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.	MP:0004947|MSH:D003872|SNOMEDCT_US:703938007|UMLS:C0011603|UMLS:C3875321	hp.json	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							
HP:0011124	biolink:PhenotypicFeature	Abnormal epidermal morphology	An abnormality of the morphology of the epidermis.	UMLS:C4023526	hp.json	Abnormality of epidermal morphology	http://purl.obolibrary.org/obo/HP_0011124							
HP:0011125	biolink:PhenotypicFeature	Abnormality of dermal melanosomes	An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).	UMLS:C4023525	hp.json		http://purl.obolibrary.org/obo/HP_0011125							
HP:0011126	biolink:PhenotypicFeature	Nephroptosis	A significant descent of the kidney as the patient moves from the supine to the erect position.	UMLS:C1384594	hp.json	Floating kidney|Renal ptosis	http://purl.obolibrary.org/obo/HP_0011126							
HP:0011127	biolink:PhenotypicFeature	Perioral eczema	A type of eczema that occurs in the lips and perioral area.	UMLS:C1396126	hp.json	Eczema around the mouth	http://purl.obolibrary.org/obo/HP_0011127							
HP:0011128	biolink:PhenotypicFeature	Acute esophageal necrosis	A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.	UMLS:C4023524	hp.json		http://purl.obolibrary.org/obo/HP_0011128							
HP:0011129	biolink:PhenotypicFeature	Bilateral fetal pyelectasis	A bilateral form of fetal pyelectasis.	UMLS:C4023523	hp.json	Bilateral foetal pyelectasia|Bilateral foetal pyelectasis|Bilateral fetal pyelectasia	http://purl.obolibrary.org/obo/HP_0011129							
HP:0011130	biolink:PhenotypicFeature	Abnormal renal calyx morphology	Any abnormality of the morphology of the major calices or minor calices of the kidney.	UMLS:C4023522	hp.json	Abnormality of renal calyx morphology	http://purl.obolibrary.org/obo/HP_0011130							
HP:0011131	biolink:PhenotypicFeature	Perianal rash	The presence of a rash (change of color and texture) of the perianal skin.	UMLS:C0240705	hp.json		http://purl.obolibrary.org/obo/HP_0011131							
HP:0011132	biolink:PhenotypicFeature	Chronic furunculosis	A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.	UMLS:C4023521	hp.json		http://purl.obolibrary.org/obo/HP_0011132							
HP:0011133	biolink:PhenotypicFeature	Increased sensitivity to ionizing radiation	An abnormally increased sensitivity to the effects of ionizing radiation.	UMLS:C4021850	hp.json	Increased sensitivity to ionising radiation	http://purl.obolibrary.org/obo/HP_0011133							
HP:0011134	biolink:PhenotypicFeature	Low-grade fever	Mild fever that does not exceed 38.5 degrees centigrade.	SNOMEDCT_US:304213008|UMLS:C0239574	hp.json	Low-grade fever|Mild fever	http://purl.obolibrary.org/obo/HP_0011134							
HP:0011135	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the sweat glands	Absence or developmental hypoplasia of the sweat glands.	UMLS:C4023520	hp.json	Absent/small sweat glands|Absent/underdeveloped sweat glands	http://purl.obolibrary.org/obo/HP_0011135							
HP:0011136	biolink:PhenotypicFeature	Aplasia of the sweat glands	Absence of the sweat glands.	UMLS:C2677485	hp.json	Absent sweat glands|Lack of sweat glands	http://purl.obolibrary.org/obo/HP_0011136							
HP:0011137	biolink:PhenotypicFeature	Non-pruritic urticaria	Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.	UMLS:C4023519	hp.json	Non-itchy hives	http://purl.obolibrary.org/obo/HP_0011137							
HP:0011138	biolink:PhenotypicFeature	Abnormality of skin adnexa morphology	An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.	UMLS:C4023518	hp.json	Abnormal skin appendage	http://purl.obolibrary.org/obo/HP_0011138							
HP:0011139	biolink:PhenotypicFeature	Gastric duplication	Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.	UMLS:C4021201	hp.json	Gastric duplication cyst	http://purl.obolibrary.org/obo/HP_0011139							
HP:0011140	biolink:PhenotypicFeature	Gastrointestinal duplication	A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.	SNOMEDCT_US:33257003|UMLS:C0266019	hp.json	GI duplication	http://purl.obolibrary.org/obo/HP_0011140							
HP:0011141	biolink:PhenotypicFeature	Age-related cataract	A type of cataract (opacification of the lens) that forms during the course of aging.	SNOMEDCT_US:39450006|UMLS:C0036646	hp.json	Clouding of the lens of the eye with age	http://purl.obolibrary.org/obo/HP_0011141							
HP:0011142	biolink:PhenotypicFeature	Age-related nuclear cataract	A type of age-related cataract that primarily affects the nucleus of the lens.	MSH:C563333|UMLS:C1832423	hp.json		http://purl.obolibrary.org/obo/HP_0011142							
HP:0011143	biolink:PhenotypicFeature	Age-related cortical cataract	A type of age-related cataract that primarily affects the cortex of the lens.	UMLS:C2880562	hp.json		http://purl.obolibrary.org/obo/HP_0011143							
HP:0011144	biolink:PhenotypicFeature	Age-related posterior subcapsular cataract	A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.	UMLS:C4023517	hp.json		http://purl.obolibrary.org/obo/HP_0011144							
HP:0011145	biolink:PhenotypicFeature	Symptomatic seizures	A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.	UMLS:C4023516	hp.json		http://purl.obolibrary.org/obo/HP_0011145							
HP:0011146	biolink:PhenotypicFeature	Dialeptic seizure	A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.		hp.json	Behavioural arrest seizure with impairment of awareness irrespective of onset|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							
HP:0011147	biolink:PhenotypicFeature	Typical absence seizure	A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.	MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|UMLS:C0014553	hp.json	Typical absence seizures|Typical absence	http://purl.obolibrary.org/obo/HP_0011147							
HP:0011148	biolink:PhenotypicFeature	obsolete Absence seizures with special features			hp.json		http://purl.obolibrary.org/obo/HP_0011148							
HP:0011149	biolink:PhenotypicFeature	Absence seizure with eyelid myoclonia	An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.	UMLS:C4023513	hp.json	Absence seizures with eyelid myoclonia	http://purl.obolibrary.org/obo/HP_0011149							
HP:0011150	biolink:PhenotypicFeature	Myoclonic absence seizure	Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.	UMLS:C4023512	hp.json	Myoclonic absences|Myoclonic absence	http://purl.obolibrary.org/obo/HP_0011150							
HP:0011151	biolink:PhenotypicFeature	Atypical absence status epilepticus	Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.	UMLS:C4023511	hp.json	Obtundation status	http://purl.obolibrary.org/obo/HP_0011151							
HP:0011152	biolink:PhenotypicFeature	Early onset absence seizures	Typical absence seizures starting before the age of 4 years.	UMLS:C4023510	hp.json	Early onset petit mal seizures	http://purl.obolibrary.org/obo/HP_0011152							
HP:0011153	biolink:PhenotypicFeature	Focal motor seizure	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.	MSH:D020938|SNOMEDCT_US:128612007|SNOMEDCT_US:82401000|UMLS:C0016399	hp.json	Focal motor seizures|Partial motor seizures|Localised motor seizure|Localised motor seizures|Localized motor seizure|Localized motor seizures|Partial motor seizure|Segmental motor seizure	http://purl.obolibrary.org/obo/HP_0011153							
HP:0011154	biolink:PhenotypicFeature	Focal autonomic seizure	An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.	UMLS:C4023509	hp.json	Focal autonomic seizures	http://purl.obolibrary.org/obo/HP_0011154							
HP:0011155	biolink:PhenotypicFeature	obsolete Focal autonomic seizures with altered responsiveness			hp.json		http://purl.obolibrary.org/obo/HP_0011155							
HP:0011156	biolink:PhenotypicFeature	obsolete Focal autonomic seizures without altered responsiveness			hp.json		http://purl.obolibrary.org/obo/HP_0011156							
HP:0011157	biolink:PhenotypicFeature	Focal sensory seizure	A focal sensory seizure is a type seizure beginning with a subjective sensation.	MSH:D004827|SNOMEDCT_US:18618006|UMLS:C0236018	hp.json	Focal sensory seizures|Partial sensory seizure|Sensory aura	http://purl.obolibrary.org/obo/HP_0011157							
HP:0011158	biolink:PhenotypicFeature	Focal sensory seizure with auditory features	A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.	UMLS:C1838063	hp.json	Auditory aura|Focal auditory seizure|Focal sensory auditory seizure|Partial auditory seizure	http://purl.obolibrary.org/obo/HP_0011158							
HP:0011159	biolink:PhenotypicFeature	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.	UMLS:C4023506	hp.json	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							
HP:0011160	biolink:PhenotypicFeature	Focal sensory seizure with gustatory features	A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.	MSH:D006212|SNOMEDCT_US:29139005|UMLS:C0233766	hp.json	Taste hallucinations|Gustatory auras|Focal gustatory seizure|Focal sensory gustatory seizure|Gustatory aura|Partial gustatory seizure	http://purl.obolibrary.org/obo/HP_0011160							
HP:0011161	biolink:PhenotypicFeature	Focal sensory seizure with olfactory features	Seizures characterized by olfactory phenomena as its first clinical manifestation.	UMLS:C4023504	hp.json	Olfactory auras|Focal olfactory seizure|Olfactory aura|Partial olfactory seizure	http://purl.obolibrary.org/obo/HP_0011161							
HP:0011162	biolink:PhenotypicFeature	obsolete Psychic auras			hp.json		http://purl.obolibrary.org/obo/HP_0011162							
HP:0011163	biolink:PhenotypicFeature	Focal sensory seizure with somatosensory features	A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.	UMLS:C4023502	hp.json	Somatosensory auras|Focal somatosensory seizure|Partial somatosensory seizure|Somatosensory aura	http://purl.obolibrary.org/obo/HP_0011163							
HP:0011164	biolink:PhenotypicFeature	obsolete Vegetative auras			hp.json		http://purl.obolibrary.org/obo/HP_0011164							
HP:0011165	biolink:PhenotypicFeature	Focal sensory seizure with visual features	A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.	UMLS:C1850765	hp.json	Visual auras|Focal visual seizure|Partial visual seizure|Visual aura|Simple partial occipital seizures	http://purl.obolibrary.org/obo/HP_0011165							
HP:0011166	biolink:PhenotypicFeature	Focal myoclonic seizure	A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.	UMLS:C4023501	hp.json	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							
HP:0011167	biolink:PhenotypicFeature	Focal tonic seizure	A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.	MSH:D020938|UMLS:C0752324	hp.json	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							
HP:0011168	biolink:PhenotypicFeature	Focal seizure with eyelid myoclonia	Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.	UMLS:C4023500	hp.json	Eyelid myoclonias	http://purl.obolibrary.org/obo/HP_0011168							
HP:0011169	biolink:PhenotypicFeature	Generalized clonic seizure	Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.	UMLS:C4023499	hp.json	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							
HP:0011170	biolink:PhenotypicFeature	Generalized myoclonic-atonic seizure	A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.	MSH:D004831|SNOMEDCT_US:230421008|UMLS:C0393702	hp.json	Myoclonic atonic seizures|Generalised myoclonic-atonic seizure|Myoclonic-astatic seizure	http://purl.obolibrary.org/obo/HP_0011170							
HP:0011171	biolink:PhenotypicFeature	Simple febrile seizure	A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.	MSH:D003294|SNOMEDCT_US:432354000|UMLS:C0149886	hp.json	Simple febrile seizures|Simple febrile convulsion|Simple fever fit	http://purl.obolibrary.org/obo/HP_0011171							
HP:0011172	biolink:PhenotypicFeature	Complex febrile seizure	A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.	MSH:D003294|SNOMEDCT_US:433083002|UMLS:C0751057	hp.json	Complex febrile seizures|Complex febrile convulsion|Complex fever fit	http://purl.obolibrary.org/obo/HP_0011172							
HP:0011173	biolink:PhenotypicFeature	Focal behavior arrest seizure	A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.	UMLS:C4023498	hp.json	Hypokinetic seizures|Focal behaviour arrest seizure|Partial seizure with behaviour arrest|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							
HP:0011174	biolink:PhenotypicFeature	Focal hyperkinetic seizure	A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.	UMLS:C4023497	hp.json	Hyperkinetic seizures|Localised hyperkinetic seizure|Localized hyperkinetic seizure|Partial hyperkinetic seizure|Segmental hyperkinetic seizure	http://purl.obolibrary.org/obo/HP_0011174							
HP:0011175	biolink:PhenotypicFeature	Focal motor seizure with version	A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.	MSH:D020938|SNOMEDCT_US:246530009|UMLS:C0422846	hp.json	Versive seizures|Versive seizure	http://purl.obolibrary.org/obo/HP_0011175							
HP:0011176	biolink:PhenotypicFeature	EEG with constitutional variants	An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.	UMLS:C4023496	hp.json		http://purl.obolibrary.org/obo/HP_0011176							
HP:0011177	biolink:PhenotypicFeature	EEG with 4-5/second background activity	EEG background activity at 4-5/second.	UMLS:C4023495	hp.json		http://purl.obolibrary.org/obo/HP_0011177							
HP:0011178	biolink:PhenotypicFeature	Alpha-EEG	EEG dominated by diffuse alpha-waves (8-13Hz).	UMLS:C4023494	hp.json		http://purl.obolibrary.org/obo/HP_0011178							
HP:0011179	biolink:PhenotypicFeature	Beta-EEG	EEG dominated by diffuse beta-waves (>13 Hz).	UMLS:C4023493	hp.json	Beta wave electroencephalography	http://purl.obolibrary.org/obo/HP_0011179							
HP:0011180	biolink:PhenotypicFeature	Partial beta-EEG	EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).	UMLS:C4023492	hp.json		http://purl.obolibrary.org/obo/HP_0011180							
HP:0011181	biolink:PhenotypicFeature	Low voltage EEG	EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).	UMLS:C1851759	hp.json		http://purl.obolibrary.org/obo/HP_0011181							
HP:0011182	biolink:PhenotypicFeature	Interictal epileptiform activity	Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.	UMLS:C4023491	hp.json	Epileptiform EEG discharges	http://purl.obolibrary.org/obo/HP_0011182							
HP:0011183	biolink:PhenotypicFeature	EEG with hyperventilation-induced focal epileptiform discharges	Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4023490	hp.json		http://purl.obolibrary.org/obo/HP_0011183							
HP:0011184	biolink:PhenotypicFeature	EEG with hyperventilation-induced generalized epileptiform discharges	Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4023489	hp.json	EEG with hyperventilation-induced generalised epileptiform discharges	http://purl.obolibrary.org/obo/HP_0011184							
HP:0011185	biolink:PhenotypicFeature	EEG with focal epileptiform discharges	EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	UMLS:C4021199	hp.json	Focal EEG Abnormality	http://purl.obolibrary.org/obo/HP_0011185							
HP:0011186	biolink:PhenotypicFeature	Focal epileptiform discharges with limited propagation to contralateral hemisphere	Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.	UMLS:C4023488	hp.json		http://purl.obolibrary.org/obo/HP_0011186							
HP:0011187	biolink:PhenotypicFeature	Focal EEG discharges with propagation to ipsilateral hemisphere	Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.	UMLS:C4023487	hp.json		http://purl.obolibrary.org/obo/HP_0011187							
HP:0011188	biolink:PhenotypicFeature	Focal EEG discharges with secondary generalization	Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.	UMLS:C4023486	hp.json	Focal EEG discharges with secondary generalisation	http://purl.obolibrary.org/obo/HP_0011188							
HP:0011189	biolink:PhenotypicFeature	Bilateral multifocal epileptiform discharges	Epileptiform discharges being identified at multiple locations in both hemispheres.	UMLS:C4023485	hp.json		http://purl.obolibrary.org/obo/HP_0011189							
HP:0011190	biolink:PhenotypicFeature	Uni- and bilateral multifocal epileptiform discharges	Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.	UMLS:C4023484	hp.json		http://purl.obolibrary.org/obo/HP_0011190							
HP:0011191	biolink:PhenotypicFeature	Unilateral multifocal epileptiform discharges	Epileptiform discharges being identified at multiple locations in one hemisphere.	UMLS:C4023483	hp.json		http://purl.obolibrary.org/obo/HP_0011191							
HP:0011192	biolink:PhenotypicFeature	Polymorphic focal epileptiform discharges	Focal epileptiform discharges of different shapes and frequencies.	UMLS:C4023482	hp.json		http://purl.obolibrary.org/obo/HP_0011192							
HP:0011193	biolink:PhenotypicFeature	EEG with focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec.	UMLS:C4023481	hp.json		http://purl.obolibrary.org/obo/HP_0011193							
HP:0011194	biolink:PhenotypicFeature	EEG with series of focal spikes	Focal spikes occurring for several seconds.	UMLS:C4023480	hp.json		http://purl.obolibrary.org/obo/HP_0011194							
HP:0011195	biolink:PhenotypicFeature	EEG with focal sharp slow waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023479	hp.json		http://purl.obolibrary.org/obo/HP_0011195							
HP:0011196	biolink:PhenotypicFeature	EEG with focal sharp waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec.	UMLS:C4023478	hp.json		http://purl.obolibrary.org/obo/HP_0011196							
HP:0011197	biolink:PhenotypicFeature	EEG with focal spike waves	EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4023477	hp.json		http://purl.obolibrary.org/obo/HP_0011197							
HP:0011198	biolink:PhenotypicFeature	EEG with generalized epileptiform discharges	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.	UMLS:C4023476	hp.json	EEG with generalised epileptiform discharges	http://purl.obolibrary.org/obo/HP_0011198							
HP:0011199	biolink:PhenotypicFeature	EEG with generalized sharp slow waves	EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023475	hp.json	EEG with generalised sharp slow waves	http://purl.obolibrary.org/obo/HP_0011199							
HP:0011200	biolink:PhenotypicFeature	EEG with generalized polymorphic epileptiform discharges	Generalized epileptiform discharges of different shapes and frequencies.	UMLS:C4023474	hp.json	EEG with generalised polymorphic epileptiform discharges	http://purl.obolibrary.org/obo/HP_0011200							
HP:0011201	biolink:PhenotypicFeature	EEG with changes in voltage	EEG with abnormal amplitude.	UMLS:C4023473	hp.json		http://purl.obolibrary.org/obo/HP_0011201							
HP:0011202	biolink:PhenotypicFeature	EEG with diffuse acceleration	EEG frequency is abnormally increased.	UMLS:C4023472	hp.json		http://purl.obolibrary.org/obo/HP_0011202							
HP:0011203	biolink:PhenotypicFeature	EEG with abnormally slow frequencies	EEG with abnormally slow frequencies.	UMLS:C4023471	hp.json		http://purl.obolibrary.org/obo/HP_0011203							
HP:0011204	biolink:PhenotypicFeature	EEG with continuous slow activity	EEG showing diffuse slowing without interruption.	UMLS:C4023470	hp.json		http://purl.obolibrary.org/obo/HP_0011204							
HP:0011205	biolink:PhenotypicFeature	EEG with intermittent slow activity	Non-continuous diffuse slowing of electroencephalographic patterns.	UMLS:C4023469	hp.json		http://purl.obolibrary.org/obo/HP_0011205							
HP:0011206	biolink:PhenotypicFeature	EEG with generalized slow activity grade 1	Slowing at frequencies between 7.5 and 8.5 Hz.	UMLS:C4023468	hp.json	EEG with generalised slow activity grade 1	http://purl.obolibrary.org/obo/HP_0011206							
HP:0011207	biolink:PhenotypicFeature	EEG with generalized slow activity grade 2	Generalized slowing of EEG activity at frequencies between 4-7 Hz.	UMLS:C4023467	hp.json	EEG with generalised slow activity grade 2	http://purl.obolibrary.org/obo/HP_0011207							
HP:0011208	biolink:PhenotypicFeature	EEG with generalized slow activity grade 3	Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.	UMLS:C4023466	hp.json	EEG with generalised slow activity grade 3	http://purl.obolibrary.org/obo/HP_0011208							
HP:0011209	biolink:PhenotypicFeature	EEG with generalized slow activity grade 4	EEG without electrical activity.	UMLS:C4021198	hp.json	EEG with generalised slow activity grade 4|Flat line EEG	http://purl.obolibrary.org/obo/HP_0011209							
HP:0011210	biolink:PhenotypicFeature	EEG with occipital slowing	Slowing in occipital areas of the scalp EEG.	UMLS:C4023465	hp.json		http://purl.obolibrary.org/obo/HP_0011210							
HP:0011211	biolink:PhenotypicFeature	EEG with photoparoxysmal response grade I	Occurrence of epileptiform discharges in occipital regions during photic stimulation.	UMLS:C4023464	hp.json		http://purl.obolibrary.org/obo/HP_0011211							
HP:0011212	biolink:PhenotypicFeature	EEG with photoparoxysmal response grade II	Occurence of epileptiform discharges in occipital and central regions during photic stimulation.	UMLS:C4023463	hp.json		http://purl.obolibrary.org/obo/HP_0011212							
HP:0011213	biolink:PhenotypicFeature	EEG with photoparoxysmal response grade III	Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.	UMLS:C4023462	hp.json		http://purl.obolibrary.org/obo/HP_0011213							
HP:0011214	biolink:PhenotypicFeature	EEG with photoparoxysmal response grade IV	Occurrence of generalized epileptiform discharges during photic stimulation.	UMLS:C4023461	hp.json		http://purl.obolibrary.org/obo/HP_0011214							
HP:0011215	biolink:PhenotypicFeature	Hemihypsarrhythmia	Hypsarrhythmia occurring in one hemisphere.	UMLS:C4023460	hp.json		http://purl.obolibrary.org/obo/HP_0011215							
HP:0011217	biolink:PhenotypicFeature	Abnormal shape of the occiput	An abnormal shape of occiput.	UMLS:C4023459	hp.json	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							
HP:0011218	biolink:PhenotypicFeature	Abnormal shape of the frontal region	An abnormal shape of the frontal part of the head.	UMLS:C4023458	hp.json	Abnormal shape of the forehead|Abnormal morphology of the frontal region|Dysmorphic forehead|Dysmorphic frontal region	http://purl.obolibrary.org/obo/HP_0011218							
HP:0011219	biolink:PhenotypicFeature	Short face	Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).	UMLS:C4023457	hp.json	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							hposlim_core
HP:0011220	biolink:PhenotypicFeature	Prominent forehead	Forward prominence of the entire forehead, due to protrusion of the frontal bone.	UMLS:C1837260|UMLS:C1867446	hp.json	Prominent forehead|Pronounced forehead|Protruding forehead|Bulging forehead|Prominence of frontal region	http://purl.obolibrary.org/obo/HP_0011220							hposlim_core
HP:0011221	biolink:PhenotypicFeature	Vertical forehead creases	Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.	UMLS:C4023456	hp.json	Frontal creases of face|Vertical forehead creases|Vertical forehead wrinkles|Vertical forehead rhytids	http://purl.obolibrary.org/obo/HP_0011221							hposlim_core
HP:0011222	biolink:PhenotypicFeature	Depressed glabella	Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.	UMLS:C4023455	hp.json	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							
HP:0011223	biolink:PhenotypicFeature	Metopic depression	Linear vertical groove in the midline of the forehead, extending from hairline to glabella.	UMLS:C4023454	hp.json	Depression of frontal cranial suture|Depression of metopic cranial suture|Frontal suture depression	http://purl.obolibrary.org/obo/HP_0011223							hposlim_core
HP:0011224	biolink:PhenotypicFeature	Ablepharon	Absent eyelids.	SNOMEDCT_US:13401001|SNOMEDCT_US:708541009|UMLS:C0266574|UMLS:C4020757	hp.json	Absent eyelids|Missing eyelids|Ablepharon of eyelid|Agenesis of eyelids|Aplasia of the eyelids	http://purl.obolibrary.org/obo/HP_0011224							hposlim_core
HP:0011225	biolink:PhenotypicFeature	Epiblepharon	Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.	SNOMEDCT_US:253212001|UMLS:C0344503	hp.json		http://purl.obolibrary.org/obo/HP_0011225							hposlim_core
HP:0011226	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the eyelid	Absence or underdevelopment of the eyelid.	UMLS:C4023453	hp.json	Failure of development of eyelid|Hypotrophic eyelid	http://purl.obolibrary.org/obo/HP_0011226							
HP:0011227	biolink:PhenotypicFeature	Elevated circulating C-reactive protein concentration	An abnormal elevation of the C-reactive protein level in the blood circulation.	UMLS:C0742906|UMLS:C4023452	hp.json	Elevated C-reactive protein level|Elevated CRP	http://purl.obolibrary.org/obo/HP_0011227							
HP:0011228	biolink:PhenotypicFeature	Horizontal eyebrow	An eyebrow that extends straight across the brow, without curve.	UMLS:C3277019	hp.json	Lack of eyebrow arch|Lack of eyebrow curvature|Flat eyebrow|Horizontal eyebrow|Straight eyebrow|Straight eyebrows	http://purl.obolibrary.org/obo/HP_0011228							hposlim_core
HP:0011229	biolink:PhenotypicFeature	Broad eyebrow	Regional increase in the width (height) of the eyebrow.	UMLS:C1856121	hp.json	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							hposlim_core
HP:0011230	biolink:PhenotypicFeature	Laterally extended eyebrow	An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.	UMLS:C4023451	hp.json	Laterally extended eyebrows|Increased lateral length of eyebrow|Laterally elongated eyebrow	http://purl.obolibrary.org/obo/HP_0011230							
HP:0011231	biolink:PhenotypicFeature	Prominent eyelashes	Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.	UMLS:C1835802|UMLS:C4023450	hp.json	Prominent eyelashes|Thick eyelashes	http://purl.obolibrary.org/obo/HP_0011231							
HP:0011232	biolink:PhenotypicFeature	Infra-orbital fold	Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.	UMLS:C4023449	hp.json	Infraorbital fold|Dennie-Morgan fold	http://purl.obolibrary.org/obo/HP_0011232							hposlim_core
HP:0011233	biolink:PhenotypicFeature	Antihelical shelf	Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.	UMLS:C4021197	hp.json	Conchal shelf	http://purl.obolibrary.org/obo/HP_0011233							
HP:0011234	biolink:PhenotypicFeature	Absent antihelix	No discernible ridge between concha and triangular fossa and helix.	UMLS:C4023448	hp.json		http://purl.obolibrary.org/obo/HP_0011234							
HP:0011235	biolink:PhenotypicFeature	Additional crus of antihelix	Supernumerary ridge or crus of the ear arising from the antihelix.	UMLS:C4023447	hp.json		http://purl.obolibrary.org/obo/HP_0011235							
HP:0011236	biolink:PhenotypicFeature	Angulated antihelix	Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.	UMLS:C4023446	hp.json		http://purl.obolibrary.org/obo/HP_0011236							
HP:0011237	biolink:PhenotypicFeature	Broad inferior crus of antihelix	Increased width of the inferred cross-section of the inferior crus.	UMLS:C4021196	hp.json	Antihelix, inferior crus, broad	http://purl.obolibrary.org/obo/HP_0011237							
HP:0011238	biolink:PhenotypicFeature	Prominent inferior crus of antihelix	Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.	UMLS:C4021195	hp.json	Antihelix, inferior crus, prominent|Hyperplastic inferior crus of antihelix|Hypertrophic inferior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011238							
HP:0011239	biolink:PhenotypicFeature	Underdeveloped inferior crus of antihelix	Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.	UMLS:C4021194	hp.json	Antihelix, inferior crus, underdeveloped|Hypoplastic inferior crus of antihelix|Hypotrophic inferior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011239							
HP:0011240	biolink:PhenotypicFeature	Prominent stem of antihelix	Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.	UMLS:C4020910	hp.json	Hyperplastic antihelix stem|Hypertrophic antihelix stem	http://purl.obolibrary.org/obo/HP_0011240							
HP:0011241	biolink:PhenotypicFeature	Serpiginous stem of antihelix	Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.	UMLS:C4021193	hp.json	Antihelix, stem, serpiginous	http://purl.obolibrary.org/obo/HP_0011241							
HP:0011242	biolink:PhenotypicFeature	Underdeveloped stem of antihelix	Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.	UMLS:C4021192	hp.json	Antihelix, stem, underdeveloped	http://purl.obolibrary.org/obo/HP_0011242							
HP:0011243	biolink:PhenotypicFeature	Abnormality of inferior crus of antihelix	An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.	UMLS:C4021191	hp.json	Abnormality of anterior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011243							
HP:0011244	biolink:PhenotypicFeature	Abnormality of stem of antihelix	An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.	UMLS:C4023445	hp.json		http://purl.obolibrary.org/obo/HP_0011244							
HP:0011245	biolink:PhenotypicFeature	Abnormality of superior crus of antihelix	An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.	UMLS:C4021190	hp.json	Abnormality of posterior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011245							
HP:0011246	biolink:PhenotypicFeature	Underdeveloped superior crus of antihelix	Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.	UMLS:C4021189	hp.json	Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011246							
HP:0011247	biolink:PhenotypicFeature	Prominent superior crus of antihelix	Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.	UMLS:C4021188	hp.json	Hyperplastic superior crus of antihelix|Hypertrophic superior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011247							
HP:0011248	biolink:PhenotypicFeature	Everted antitragus	Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).	UMLS:C4023444	hp.json		http://purl.obolibrary.org/obo/HP_0011248							
HP:0011249	biolink:PhenotypicFeature	Absent antitragus	Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	UMLS:C4023443	hp.json		http://purl.obolibrary.org/obo/HP_0011249							
HP:0011250	biolink:PhenotypicFeature	Bifid antitragus	Double rather than single peak of the antitragus.	UMLS:C4021187	hp.json	Double antitragus	http://purl.obolibrary.org/obo/HP_0011250							
HP:0011251	biolink:PhenotypicFeature	Underdeveloped antitragus	Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	UMLS:C4021186	hp.json	Hypoplastic antitragus|Hypotrophic antitragus|Small antitragus	http://purl.obolibrary.org/obo/HP_0011251							
HP:0011252	biolink:PhenotypicFeature	Cryptotia	Invagination of the superior part of the auricle under a fold of temporal skin.	SNOMEDCT_US:429967001|UMLS:C2315717	hp.json	Buried ear|Hidden ear	http://purl.obolibrary.org/obo/HP_0011252							hposlim_core
HP:0011253	biolink:PhenotypicFeature	Type I cryptotia	A type of cryptotia associated with reduction in size of the antihelix and superior crus.	UMLS:C4023442	hp.json	Type 1 cryptotia	http://purl.obolibrary.org/obo/HP_0011253							
HP:0011254	biolink:PhenotypicFeature	Type II cryptotia	A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.	UMLS:C4023441	hp.json	Type 2 cryptotia	http://purl.obolibrary.org/obo/HP_0011254							
HP:0011255	biolink:PhenotypicFeature	Absent crus of helix	Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.	UMLS:C4021185	hp.json	Helix, crus, absent	http://purl.obolibrary.org/obo/HP_0011255							
HP:0011256	biolink:PhenotypicFeature	Crus of helix connected to antihelix	Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.	UMLS:C4021184	hp.json	Helix, crus, connected to antihelix	http://purl.obolibrary.org/obo/HP_0011256							
HP:0011257	biolink:PhenotypicFeature	Serpiginous crus of helix	Curving course of the crus of the helix, approaching or joining the antitragus.	UMLS:C4021183	hp.json	Helix, crus, serpiginous	http://purl.obolibrary.org/obo/HP_0011257							
HP:0011258	biolink:PhenotypicFeature	Tragal bridge of crus of helix	The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.	UMLS:C4021182	hp.json	Helix, crus, tragal bridge	http://purl.obolibrary.org/obo/HP_0011258							
HP:0011259	biolink:PhenotypicFeature	Expanded terminal portion of crus of helix	Widening, rather than tapering, of the crus at its posterior border near the antihelix.	UMLS:C4021181	hp.json	Helix, crus, expanded terminal portion	http://purl.obolibrary.org/obo/HP_0011259							
HP:0011260	biolink:PhenotypicFeature	Darwin notch of helix	Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.	UMLS:C4021180	hp.json	Helix, Darwin notch	http://purl.obolibrary.org/obo/HP_0011260							
HP:0011261	biolink:PhenotypicFeature	Darwin tubercle of helix	Small expansion of the helical fold at the junction of the superior and descending portions of the helix.	UMLS:C4021179	hp.json	Helix, Darwin tubercle	http://purl.obolibrary.org/obo/HP_0011261							
HP:0011262	biolink:PhenotypicFeature	Crimped helix	Linear, circumferential indentation in the convexity of the outer surface of the helix.	UMLS:C4021178	hp.json	Helix, crimped|Indented helix	http://purl.obolibrary.org/obo/HP_0011262							
HP:0011263	biolink:PhenotypicFeature	Forward facing earlobe	Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.	UMLS:C4021177	hp.json	Forward facing earlobe|Lobe, forward facing	http://purl.obolibrary.org/obo/HP_0011263							
HP:0011264	biolink:PhenotypicFeature	Discontinuous ascending root of helix	Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.	UMLS:C4021176	hp.json	Helix, discontinuous ascending root	http://purl.obolibrary.org/obo/HP_0011264							
HP:0011265	biolink:PhenotypicFeature	Cleft earlobe	Discontinuity in the convexity of the inferior margin of the lobe.	UMLS:C4023440	hp.json	Cleft earlobe	http://purl.obolibrary.org/obo/HP_0011265							hposlim_core
HP:0011266	biolink:PhenotypicFeature	Microtia, first degree	Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.	UMLS:C4021175	hp.json	First-degree microtia	http://purl.obolibrary.org/obo/HP_0011266							
HP:0011267	biolink:PhenotypicFeature	Microtia, third degree	Presence of some auricular structures, but none of these structures conform to recognized ear components.	UMLS:C4021174|UMLS:C4280331	hp.json	Abnormal shape/structure of ear|Third-degree microtia	http://purl.obolibrary.org/obo/HP_0011267							
HP:0011268	biolink:PhenotypicFeature	Absent tragus	Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.	UMLS:C4023439	hp.json		http://purl.obolibrary.org/obo/HP_0011268							hposlim_core
HP:0011269	biolink:PhenotypicFeature	Bifid tragus	Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.	UMLS:C4021173	hp.json	Notched tragus|Tragus, bifid	http://purl.obolibrary.org/obo/HP_0011269							
HP:0011270	biolink:PhenotypicFeature	Duplicated tragus	A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.	UMLS:C4021172	hp.json	Accesory tragus|Tragus, duplicated	http://purl.obolibrary.org/obo/HP_0011270							
HP:0011271	biolink:PhenotypicFeature	Prominent tragus	Increase posterolateral protrusion of the tragus.	UMLS:C4021171	hp.json	Enlarged tragus|Hyperplastic tragus|Hypertrophic tragus|Large tragus|Tragus, prominent	http://purl.obolibrary.org/obo/HP_0011271							hposlim_core
HP:0011272	biolink:PhenotypicFeature	Underdeveloped tragus	Decreased posterolateral protrusion of the tragus.	UMLS:C4013429	hp.json	Hypoplastic tragus|Hypotrophic tragus|Small tragus	http://purl.obolibrary.org/obo/HP_0011272							
HP:0011273	biolink:PhenotypicFeature	Anisocytosis	Abnormally increased variability in the size of erythrocytes.	SNOMEDCT_US:165475005|SNOMEDCT_US:57241006|UMLS:C0221278	hp.json	Unequal size of red blood cells	http://purl.obolibrary.org/obo/HP_0011273							
HP:0011274	biolink:PhenotypicFeature	Recurrent mycobacterial infections	Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.	UMLS:C4023438	hp.json		http://purl.obolibrary.org/obo/HP_0011274							
HP:0011275	biolink:PhenotypicFeature	Recurrent mycobacterium avium complex infections	Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.	UMLS:C1737260	hp.json		http://purl.obolibrary.org/obo/HP_0011275							
HP:0011276	biolink:PhenotypicFeature	Vascular skin abnormality		MSH:D017445|SNOMEDCT_US:11263005|UMLS:C0162819|UMLS:C1842892	hp.json	Skin vascular malformation|Vascular abnormalities restricted to skin	http://purl.obolibrary.org/obo/HP_0011276							
HP:0011277	biolink:PhenotypicFeature	Abnormality of the urinary system physiology		UMLS:C4023437	hp.json		http://purl.obolibrary.org/obo/HP_0011277							
HP:0011278	biolink:PhenotypicFeature	Intrapulmonary sequestration	A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.	UMLS:C4023436	hp.json		http://purl.obolibrary.org/obo/HP_0011278							
HP:0011279	biolink:PhenotypicFeature	Abnormality of urine bicarbonate concentration	An abnormality of the concentration of hydrogencarbonate in the urine.	UMLS:C4023435	hp.json	Abnormality of urine HCO3 concentration	http://purl.obolibrary.org/obo/HP_0011279							
HP:0011280	biolink:PhenotypicFeature	Abnormality of urine calcium concentration	An abnormality of calcium concentration in the urine.	UMLS:C4023434	hp.json	Abnormality of urine Ca concentration|Abnormality of urine Ca2+ concentration	http://purl.obolibrary.org/obo/HP_0011280							
HP:0011281	biolink:PhenotypicFeature	Abnormality of urine catecholamine concentration	An abnormal level of urinary catecholamine concentration.	MP:0011478|UMLS:C4023433	hp.json		http://purl.obolibrary.org/obo/HP_0011281							
HP:0011282	biolink:PhenotypicFeature	Abnormality of hindbrain morphology	An abnormality of the hindbrain, also known as the rhombencephalon.	UMLS:C4021170	hp.json	Abnormal shape of hindbrain|Abnormality of the hindbrain	http://purl.obolibrary.org/obo/HP_0011282							
HP:0011283	biolink:PhenotypicFeature	Abnormal metencephalon morphology	An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.	UMLS:C4023432	hp.json	Abnormality of the metencephalon	http://purl.obolibrary.org/obo/HP_0011283							
HP:0011284	biolink:PhenotypicFeature	Short-segment aganglionic megacolon	A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.	UMLS:C4023431	hp.json		http://purl.obolibrary.org/obo/HP_0011284							
HP:0011285	biolink:PhenotypicFeature	Long-segment aganglionic megacolon	A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.	UMLS:C4023430	hp.json		http://purl.obolibrary.org/obo/HP_0011285							
HP:0011286	biolink:PhenotypicFeature	Total colonic aganglionosis	A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.	MSH:D006627|SNOMEDCT_US:253780003|SNOMEDCT_US:360441005|UMLS:C0085758	hp.json		http://purl.obolibrary.org/obo/HP_0011286							
HP:0011287	biolink:PhenotypicFeature	EEG with occipital sharp slow waves	EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023429	hp.json		http://purl.obolibrary.org/obo/HP_0011287							
HP:0011288	biolink:PhenotypicFeature	EEG with parietal sharp slow waves	EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023428	hp.json		http://purl.obolibrary.org/obo/HP_0011288							
HP:0011289	biolink:PhenotypicFeature	EEG with temporal sharp slow waves	EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023427	hp.json		http://purl.obolibrary.org/obo/HP_0011289							
HP:0011290	biolink:PhenotypicFeature	EEG with frontal sharp slow waves	EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023426	hp.json		http://purl.obolibrary.org/obo/HP_0011290							
HP:0011291	biolink:PhenotypicFeature	EEG with central sharp slow waves	EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	UMLS:C4023425	hp.json		http://purl.obolibrary.org/obo/HP_0011291							
HP:0011292	biolink:PhenotypicFeature	EEG with occipital sharp waves	EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.	UMLS:C2206521	hp.json		http://purl.obolibrary.org/obo/HP_0011292							
HP:0011293	biolink:PhenotypicFeature	EEG with central sharp waves	EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.	UMLS:C2207327	hp.json		http://purl.obolibrary.org/obo/HP_0011293							
HP:0011294	biolink:PhenotypicFeature	EEG with frontal sharp waves	EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.	UMLS:C2206518	hp.json		http://purl.obolibrary.org/obo/HP_0011294							
HP:0011295	biolink:PhenotypicFeature	EEG with parietal sharp waves	EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.	UMLS:C2206520	hp.json		http://purl.obolibrary.org/obo/HP_0011295							
HP:0011296	biolink:PhenotypicFeature	EEG with temporal sharp waves	EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.	UMLS:C2206519	hp.json		http://purl.obolibrary.org/obo/HP_0011296							
HP:0011297	biolink:PhenotypicFeature	Abnormal digit morphology	A morphological abnormality of a digit, i.e., of a finger or toe.	UMLS:C3550704	hp.json	Abnormality of fingers or toes|Abnormality of digit|Digital anomalies	http://purl.obolibrary.org/obo/HP_0011297							hposlim_core
HP:0011298	biolink:PhenotypicFeature	Prominent digit pad	A soft tissue prominence of the ventral aspects of the fingertips or toe tips.	UMLS:C4023424	hp.json	Prominent digit pad	http://purl.obolibrary.org/obo/HP_0011298							
HP:0011299	biolink:PhenotypicFeature	Partial absence of finger	The absence of a phalangeal segment of a finger.	UMLS:C4023423	hp.json	Partial absence of finger	http://purl.obolibrary.org/obo/HP_0011299							hposlim_core
HP:0011300	biolink:PhenotypicFeature	Broad fingertip	Increased width of the distal segment of a finger.	UMLS:C1968816	hp.json	Broad fingertip|Broad fingertips	http://purl.obolibrary.org/obo/HP_0011300							hposlim_core
HP:0011301	biolink:PhenotypicFeature	Absent foot	The total absence of the foot, with no bony elements distal to the tibia or fibula.	SNOMEDCT_US:371197005|UMLS:C0265624	hp.json	Absent foot|Aplasia of the foot|Apodia	http://purl.obolibrary.org/obo/HP_0011301							hposlim_core
HP:0011302	biolink:PhenotypicFeature	Long palm	For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.	UMLS:C4023422	hp.json	Long palm	http://purl.obolibrary.org/obo/HP_0011302							hposlim_core
HP:0011303	biolink:PhenotypicFeature	Convex contour of sole	The contour of the foot in lateral profile has a convex shape.	UMLS:C4023421	hp.json		http://purl.obolibrary.org/obo/HP_0011303							
HP:0011304	biolink:PhenotypicFeature	Broad thumb	Increased thumb width without increased dorso-ventral dimension.	SNOMEDCT_US:249773003|UMLS:C0426891	hp.json	Broad thumb|Broad thumbs|Wide/broad thumb|Broad phalanges of the thumb|Wide/broad thumb phalanges	http://purl.obolibrary.org/obo/HP_0011304							hposlim_core
HP:0011305	biolink:PhenotypicFeature	Partial absence of toe	The absence of a phalangeal segment of a toe or hallux.	UMLS:C4021169	hp.json	Partial absence of toe|Hypophalangy of toes	http://purl.obolibrary.org/obo/HP_0011305							
HP:0011307	biolink:PhenotypicFeature	Splayed toes	Divergence of digits along the anteroposterior axis (in the plane of the sole).	UMLS:C2117390	hp.json	Splayed toes	http://purl.obolibrary.org/obo/HP_0011307							
HP:0011308	biolink:PhenotypicFeature	Slender toe	Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.	UMLS:C4021168	hp.json	Narrow toe|Slender toe	http://purl.obolibrary.org/obo/HP_0011308							
HP:0011309	biolink:PhenotypicFeature	Tapered toe	The gradual reduction in girth of the toe from proximal to distal.	UMLS:C4021167	hp.json	Tapered toe|Tapering toes	http://purl.obolibrary.org/obo/HP_0011309							
HP:0011310	biolink:PhenotypicFeature	Bridged palmar crease	A crease that connects the proximal and distal transverse palmar creases.	UMLS:C4021166	hp.json	Bridged palm line|Transitional palmar crease	http://purl.obolibrary.org/obo/HP_0011310							
HP:0011311	biolink:PhenotypicFeature	Sydney crease	Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.	UMLS:C4023420	hp.json		http://purl.obolibrary.org/obo/HP_0011311							
HP:0011312	biolink:PhenotypicFeature	Fused nails	A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.	UMLS:C4023419	hp.json	Fused nails	http://purl.obolibrary.org/obo/HP_0011312							
HP:0011313	biolink:PhenotypicFeature	Narrow nail	Decreased width of nail.	UMLS:C4021829	hp.json	Narrow nail	http://purl.obolibrary.org/obo/HP_0011313							
HP:0011314	biolink:PhenotypicFeature	Abnormality of long bone morphology	An abnormality of size or shape of the long bones.	UMLS:C4021165	hp.json	Abnormal shape of long bone|Abnormality of the tubular bones	http://purl.obolibrary.org/obo/HP_0011314							
HP:0011315	biolink:PhenotypicFeature	Unicoronal synostosis	Synostosis affecting only one of the coronal sutures.	UMLS:C4020756|UMLS:C4023418	hp.json	Unilateral coronal suture craniosynostosis|Unilateral coronal suture synostosis|Unilateral coronal craniosynostosis	http://purl.obolibrary.org/obo/HP_0011315							
HP:0011316	biolink:PhenotypicFeature	Left unicoronal synostosis	Synostosis affecting only the left coronal suture.	UMLS:C4023417	hp.json		http://purl.obolibrary.org/obo/HP_0011316							
HP:0011317	biolink:PhenotypicFeature	Right unicoronal synostosis	Unicoronal synostosis affecting only the right coronal suture.	UMLS:C4023416	hp.json		http://purl.obolibrary.org/obo/HP_0011317							
HP:0011318	biolink:PhenotypicFeature	Bicoronal synostosis	Synostosis affecting the right and the left coronal suture.	UMLS:C4021164	hp.json	Bilateral coronal craniosynostosis|Bilateral coronal suture craniosynostosis|Bilateral coronal suture synostosis	http://purl.obolibrary.org/obo/HP_0011318							hposlim_core
HP:0011319	biolink:PhenotypicFeature	Bilambdoid synostosis	Premature synostosis of both lambdoid sutures.	UMLS:C4021163	hp.json	Bilateral lambdoid craniosynostosis|Bilateral lambdoid suture synostosis	http://purl.obolibrary.org/obo/HP_0011319							hposlim_core
HP:0011320	biolink:PhenotypicFeature	Unilambdoid synostosis	Premature synostosis of only one lambdoid suture.	UMLS:C4021162	hp.json	Unilateral lambdoid craniosynostosis|Unilateral lambdoid suture synostosis	http://purl.obolibrary.org/obo/HP_0011320							hposlim_core
HP:0011321	biolink:PhenotypicFeature	Left unilambdoid synostosis	Premature synostosis of only the left lambdoid suture.	UMLS:C4023415	hp.json		http://purl.obolibrary.org/obo/HP_0011321							
HP:0011322	biolink:PhenotypicFeature	Right unilambdoid synostosis	Premature synostosis of only the right lambdoid suture.	UMLS:C4023414	hp.json		http://purl.obolibrary.org/obo/HP_0011322							
HP:0011323	biolink:PhenotypicFeature	Cleft of chin	Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.	UMLS:C1849227	hp.json	Cleft of chin|Midline defect of chin	http://purl.obolibrary.org/obo/HP_0011323							
HP:0011324	biolink:PhenotypicFeature	Multiple suture craniosynostosis	Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.	UMLS:C4021161	hp.json	Multisutural craniosynostosis	http://purl.obolibrary.org/obo/HP_0011324							
HP:0011325	biolink:PhenotypicFeature	Pansynostosis	Craniosynostosis of all calvarial sutures.	UMLS:C4021827	hp.json	Sysnostosis of all cranial sutures	http://purl.obolibrary.org/obo/HP_0011325							
HP:0011326	biolink:PhenotypicFeature	Anterior plagiocephaly	Asymmetry of the anterior part of the skull.	SNOMEDCT_US:254020001|UMLS:C0432124|UMLS:C4023413|UMLS:C4280328|UMLS:C4280329|UMLS:C4280330	hp.json	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							
HP:0011327	biolink:PhenotypicFeature	Posterior plagiocephaly	Asymmetry of the posterior part of the skull.	UMLS:C4021160	hp.json	Deformational posterior plagiocephaly|Occipital plagiocephaly	http://purl.obolibrary.org/obo/HP_0011327							
HP:0011328	biolink:PhenotypicFeature	Abnormality of fontanelles	An abnormality of the fontanelle.	UMLS:C4020755	hp.json	Anomaly of the fontanelles	http://purl.obolibrary.org/obo/HP_0011328							hposlim_core
HP:0011329	biolink:PhenotypicFeature	Abnormality of cranial sutures	Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.	UMLS:C4023412	hp.json	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							
HP:0011330	biolink:PhenotypicFeature	Metopic synostosis	Premature fusion of the metopic suture.	MSH:C562951|MSH:D003398|SNOMEDCT_US:109409003|UMLS:C0432122|UMLS:C1860819	hp.json	Metopic craniosynostosis|Metopic suture craniosynostosis	http://purl.obolibrary.org/obo/HP_0011330							hposlim_core
HP:0011331	biolink:PhenotypicFeature	Hemifacial atrophy	Unilateral atrophy of facial tissues, including muscles, bones and skin.	MSH:D005150|SNOMEDCT_US:718224004|SNOMEDCT_US:95834000|UMLS:C0015458	hp.json	Atrophy of half of face|Atrophy of one side of the face|Facial hemiatrophy	http://purl.obolibrary.org/obo/HP_0011331							hposlim_core
HP:0011332	biolink:PhenotypicFeature	Hemifacial hypoplasia	Unilateral underdevelopment of the facial tissues, including muscles and bones.	MSH:D006053|SNOMEDCT_US:254025006|UMLS:C3495417|UMLS:C4023411	hp.json	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							
HP:0011333	biolink:PhenotypicFeature	Asymmetric crying face	Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.	MSH:C535349|SNOMEDCT_US:51409009|UMLS:C0431406|UMLS:C4280327	hp.json	Asymmetric crying face|Partial unilateral facial paresis|Hypoplasia of depressor angula oris muscle	http://purl.obolibrary.org/obo/HP_0011333							
HP:0011334	biolink:PhenotypicFeature	Facial shape deformation		UMLS:C4021159	hp.json	Facial shape deformation|Distortion of facial shape|Facial shape compression	http://purl.obolibrary.org/obo/HP_0011334							
HP:0011335	biolink:PhenotypicFeature	Frontal hirsutism	Excessive amount of hair growth on forehead.	UMLS:C1839830	hp.json	Hairy forehead|Hirsute forehead	http://purl.obolibrary.org/obo/HP_0011335							
HP:0011336	biolink:PhenotypicFeature	Bitemporal forceps marks	Bilateral temporal scarlike defects, which are said to resemble forceps marks.	UMLS:C4020754|UMLS:C4023409	hp.json	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							
HP:0011337	biolink:PhenotypicFeature	Abnormality of mouth size		UMLS:C4023408	hp.json	Abnormality of mouth size|Anomaly of mouth size	http://purl.obolibrary.org/obo/HP_0011337							
HP:0011338	biolink:PhenotypicFeature	Abnormality of mouth shape	An abnormality of the outline, configuration, or contour of the mouth.	Fyler:4874|UMLS:C4023407	hp.json	Abnormality of mouth shape|Anomaly of mouth shape|Unusual mouth shape	http://purl.obolibrary.org/obo/HP_0011338							
HP:0011339	biolink:PhenotypicFeature	Abnormality of upper lip vermillion	An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.	UMLS:C4023406	hp.json	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							
HP:0011340	biolink:PhenotypicFeature	Incomplete cleft of the upper lip	A subtle unilateral cleft of the upper lip, which may appear as a small indentation.	UMLS:C4021158	hp.json	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							
HP:0011341	biolink:PhenotypicFeature	Long upper lip	Increased width of the upper lip.	UMLS:C3151495	hp.json	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							
HP:0011342	biolink:PhenotypicFeature	Mild global developmental delay	A mild delay in the achievement of motor or mental milestones in the domains of development of a child.	UMLS:C2229182|UMLS:C4012968	hp.json	Global developmental delay, mild|Psychomotor retardation, mild	http://purl.obolibrary.org/obo/HP_0011342							
HP:0011343	biolink:PhenotypicFeature	Moderate global developmental delay	A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.	UMLS:C2237142	hp.json	Global developmental delay, moderate|Psychomotor retardation, moderate	http://purl.obolibrary.org/obo/HP_0011343							
HP:0011344	biolink:PhenotypicFeature	Severe global developmental delay	A severe delay in the achievement of motor or mental milestones in the domains of development of a child.	UMLS:C1837397|UMLS:C1854919	hp.json	Global developmental delay, severe|Severe psychomotor retardation	http://purl.obolibrary.org/obo/HP_0011344							
HP:0011345	biolink:PhenotypicFeature	Moderate expressive language delay	A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	SNOMEDCT_US:62211000119103|UMLS:C3532933	hp.json		http://purl.obolibrary.org/obo/HP_0011345							
HP:0011346	biolink:PhenotypicFeature	Mild expressive language delay	A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	SNOMEDCT_US:62231000119108|UMLS:C3532934	hp.json		http://purl.obolibrary.org/obo/HP_0011346							
HP:0011347	biolink:PhenotypicFeature	Abnormality of ocular abduction	An abnormality involving the movement of the eye outwards.	UMLS:C4023405	hp.json		http://purl.obolibrary.org/obo/HP_0011347							
HP:0011348	biolink:PhenotypicFeature	Abnormal sixth cranial nerve morphology	Any structural abnormality of the abducens nerve.	UMLS:C4023404	hp.json	Abnormal abducens nerve morphology|Abnormality of the sixth cranial nerve	http://purl.obolibrary.org/obo/HP_0011348							
HP:0011349	biolink:PhenotypicFeature	obsolete Abducens palsy			hp.json		http://purl.obolibrary.org/obo/HP_0011349							
HP:0011350	biolink:PhenotypicFeature	Mild receptive language delay	A mild delay in the acquisition of the ability to understand the speech of others.	SNOMEDCT_US:89501000119108|UMLS:C3532948	hp.json		http://purl.obolibrary.org/obo/HP_0011350							
HP:0011351	biolink:PhenotypicFeature	Moderate receptive language delay	A moderate delay in the acquisition of the ability to understand the speech of others.	SNOMEDCT_US:89381000119107|UMLS:C3532946	hp.json		http://purl.obolibrary.org/obo/HP_0011351							
HP:0011352	biolink:PhenotypicFeature	Severe receptive language delay	A severe delay in the acquisition of the ability to understand the speech of others.	SNOMEDCT_US:89391000119105|UMLS:C3532947	hp.json		http://purl.obolibrary.org/obo/HP_0011352							
HP:0011353	biolink:PhenotypicFeature	Arterial intimal fibrosis	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.	UMLS:C4020753|UMLS:C4023403	hp.json	Intimal fibrosis	http://purl.obolibrary.org/obo/HP_0011353							
HP:0011354	biolink:PhenotypicFeature	Generalized abnormality of skin	An abnormality of the skin that is not localized to any one particular region.	UMLS:C4021157	hp.json	Generalised abnormality of skin|Generalized abnormality of skin	http://purl.obolibrary.org/obo/HP_0011354							
HP:0011355	biolink:PhenotypicFeature	Localized skin lesion	A lesion of the skin that is located in a specific region rather than being generalized.	UMLS:C0850826	hp.json	Localized skin lesion|Localised skin lesion	http://purl.obolibrary.org/obo/HP_0011355							
HP:0011356	biolink:PhenotypicFeature	Regional abnormality of skin	An abnormality of the skin that is restricted to a particular body region.	UMLS:C4023402	hp.json		http://purl.obolibrary.org/obo/HP_0011356							
HP:0011357	biolink:PhenotypicFeature	obsolete Abnormality of hair density			hp.json		http://purl.obolibrary.org/obo/HP_0011357							
HP:0011358	biolink:PhenotypicFeature	Generalized hypopigmentation of hair	Reduced pigmentation of hair diffusely.	UMLS:C4023400	hp.json	Generalised hypopigmentation of hair	http://purl.obolibrary.org/obo/HP_0011358							
HP:0011359	biolink:PhenotypicFeature	Dry hair	Hair that lacks the lustre (shine or gleam) of normal hair.	SNOMEDCT_US:79395009|UMLS:C0277960	hp.json	Dry hair	http://purl.obolibrary.org/obo/HP_0011359							
HP:0011360	biolink:PhenotypicFeature	Acquired abnormal hair pattern	An abnormality of the distribution of hair growth that is acquired during the course of life.	UMLS:C4023399	hp.json	Acquired abnormal hair pattern	http://purl.obolibrary.org/obo/HP_0011360							
HP:0011361	biolink:PhenotypicFeature	Congenital abnormal hair pattern	A congenital abnormality of the distribution of hair growth.	UMLS:C4023398	hp.json	Abnormal hair pattern since birth	http://purl.obolibrary.org/obo/HP_0011361							
HP:0011362	biolink:PhenotypicFeature	Abnormal hair quantity	An abnormal amount of hair.	UMLS:C4023397|UMLS:C4023401	hp.json	Abnormal hair quantity|Abnormality of hair density	http://purl.obolibrary.org/obo/HP_0011362							
HP:0011363	biolink:PhenotypicFeature	Abnormality of hair growth rate	Hair whose growth rate deviates from the norm.	UMLS:C4023396	hp.json	Abnormality of hair growth rate|Abnormality of pace of hair growth|Abnormality of speed of hair growth	http://purl.obolibrary.org/obo/HP_0011363							
HP:0011364	biolink:PhenotypicFeature	White hair	Hypopigmented hair that appears white.	SNOMEDCT_US:297993006|UMLS:C0239804	hp.json	White hair	http://purl.obolibrary.org/obo/HP_0011364							
HP:0011365	biolink:PhenotypicFeature	Patchy hypopigmentation of hair	Reduced pigmentation of hair in patches.	UMLS:C4023395	hp.json		http://purl.obolibrary.org/obo/HP_0011365							
HP:0011367	biolink:PhenotypicFeature	Yellow nails	Yellowish discoloration of the nails.	SNOMEDCT_US:45342007|UMLS:C1768507	hp.json	Yellow nails	http://purl.obolibrary.org/obo/HP_0011367							
HP:0011368	biolink:PhenotypicFeature	Epidermal thickening	Thickening of the epidermal layer of the skin.	UMLS:C0494876|UMLS:C4020752	hp.json	Abnormality of keratinization	http://purl.obolibrary.org/obo/HP_0011368							
HP:0011369	biolink:PhenotypicFeature	Mongolian blue spot	Congenital deep dermal melanosis in the sacral area.	MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985	hp.json		http://purl.obolibrary.org/obo/HP_0011369							
HP:0011370	biolink:PhenotypicFeature	Recurrent cutaneous fungal infections	Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.	UMLS:C4023394	hp.json		http://purl.obolibrary.org/obo/HP_0011370							
HP:0011371	biolink:PhenotypicFeature	Recurrent viral skin infections	Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.	UMLS:C4023393	hp.json	Recurrent viral skin infections	http://purl.obolibrary.org/obo/HP_0011371							
HP:0011372	biolink:PhenotypicFeature	Aplasia of the inner ear	Absence of the inner ear due to a developmental defect.	SNOMEDCT_US:71973003|UMLS:C0266604	hp.json	Absent inner ear|Aplasia of the labyrinth|Labyrinthine aplasia|Michel deformity	http://purl.obolibrary.org/obo/HP_0011372							
HP:0011373	biolink:PhenotypicFeature	Incomplete partition of the cochlea	Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.	UMLS:C4023392	hp.json		http://purl.obolibrary.org/obo/HP_0011373							
HP:0011374	biolink:PhenotypicFeature	Incomplete partition of the cochlea type I	Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.	UMLS:C4023391	hp.json		http://purl.obolibrary.org/obo/HP_0011374							
HP:0011375	biolink:PhenotypicFeature	Cochlear aplasia	Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.	UMLS:C4023390	hp.json	Absent cochlea	http://purl.obolibrary.org/obo/HP_0011375							
HP:0011376	biolink:PhenotypicFeature	Morphological abnormality of the vestibule of the inner ear	A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.	UMLS:C0542259	hp.json	Vestibular abnormality	http://purl.obolibrary.org/obo/HP_0011376							
HP:0011377	biolink:PhenotypicFeature	Aplasia of the vestibule	Complete absence of the vestibule of the inner ear.	UMLS:C4023389	hp.json	Absent vestibule	http://purl.obolibrary.org/obo/HP_0011377							
HP:0011378	biolink:PhenotypicFeature	Hypoplasia of the vestibule of the inner ear	Underdevelopment of the vestibule of the inner ear.	UMLS:C4023388	hp.json		http://purl.obolibrary.org/obo/HP_0011378							
HP:0011379	biolink:PhenotypicFeature	Dilated vestibule of the inner ear	Dilatation of the vestibule of the inner ear.	UMLS:C4023387	hp.json		http://purl.obolibrary.org/obo/HP_0011379							
HP:0011380	biolink:PhenotypicFeature	Morphological abnormality of the semicircular canal	An abnormality of the morphology of the semicircular canal.	UMLS:C4023386	hp.json		http://purl.obolibrary.org/obo/HP_0011380							
HP:0011381	biolink:PhenotypicFeature	Aplasia of the semicircular canal	Absence of the semicircular canal.	UMLS:C4023385	hp.json	Absent semicircular canal	http://purl.obolibrary.org/obo/HP_0011381							
HP:0011382	biolink:PhenotypicFeature	Hypoplasia of the semicircular canal	Underdevelopment of the semicircular canal.	UMLS:C3552156	hp.json	Small semicircular canal|Hypoplasia of the semicircular canals	http://purl.obolibrary.org/obo/HP_0011382							
HP:0011383	biolink:PhenotypicFeature	Enlarged semicircular canal	Increased size of the semicircular canal.	UMLS:C4021156	hp.json	Dilated semicircular canal	http://purl.obolibrary.org/obo/HP_0011383							
HP:0011384	biolink:PhenotypicFeature	Abnormality of the internal auditory canal	An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.	UMLS:C4021155	hp.json	Abnormality of the internal acoustic meatus	http://purl.obolibrary.org/obo/HP_0011384							
HP:0011385	biolink:PhenotypicFeature	Absent internal auditory canal	Aplasia of the internal auditory canal.	UMLS:C4023384	hp.json		http://purl.obolibrary.org/obo/HP_0011385							
HP:0011386	biolink:PhenotypicFeature	Narrow internal auditory canal	Reduction in diameter of the internal auditory canal.	UMLS:C4023383	hp.json		http://purl.obolibrary.org/obo/HP_0011386							
HP:0011387	biolink:PhenotypicFeature	Enlarged vestibular aqueduct	Increased size of the vestibular aqueduct.	MSH:C566366|UMLS:C1863752	hp.json	Dilated vestibular aqueduct|Widened vestibular aqueduct	http://purl.obolibrary.org/obo/HP_0011387							
HP:0011388	biolink:PhenotypicFeature	Enlarged cochlear aqueduct	Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.	UMLS:C4021154	hp.json	Dilated cochlear aqueduct	http://purl.obolibrary.org/obo/HP_0011388							
HP:0011389	biolink:PhenotypicFeature	Functional abnormality of the inner ear	An abnormality of the function of the inner ear.	UMLS:C4023382	hp.json	Functional abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0011389							
HP:0011390	biolink:PhenotypicFeature	Morphological abnormality of the inner ear	A structural anomaly of the internal part of the ear.	UMLS:C4023381	hp.json		http://purl.obolibrary.org/obo/HP_0011390							
HP:0011391	biolink:PhenotypicFeature	Morphological abnormality of the nerves of the inner ear		UMLS:C4023380	hp.json		http://purl.obolibrary.org/obo/HP_0011391							
HP:0011392	biolink:PhenotypicFeature	Abnormality of the vestibular nerve		UMLS:C4023379	hp.json		http://purl.obolibrary.org/obo/HP_0011392							
HP:0011393	biolink:PhenotypicFeature	Aplasia of the vestibular nerve.	Absence of the vestibular nerve	UMLS:C4020751|UMLS:C4021153	hp.json	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							
HP:0011394	biolink:PhenotypicFeature	Hypoplasia of the vestibular nerve	Underdevelopment of the vestibular nerve.	UMLS:C4020750	hp.json	Hypoplasia of the eighth cranial nerve|Thin vestibular nerve|Hypoplasia of cranial nerve VIII	http://purl.obolibrary.org/obo/HP_0011394							
HP:0011395	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cochlea	Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.	UMLS:C4023378	hp.json	Absent/small cochlea|Absent/underdeveloped cochlea	http://purl.obolibrary.org/obo/HP_0011395							
HP:0011396	biolink:PhenotypicFeature	Abnormality of the cochlear nerve		UMLS:C4023377	hp.json		http://purl.obolibrary.org/obo/HP_0011396							
HP:0011397	biolink:PhenotypicFeature	Abnormality of the dorsal column of the spinal cord	An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.	UMLS:C4023376	hp.json		http://purl.obolibrary.org/obo/HP_0011397							
HP:0011398	biolink:PhenotypicFeature	obsolete Central hypotonia			hp.json		http://purl.obolibrary.org/obo/HP_0011398							
HP:0011399	biolink:PhenotypicFeature	Tibialis atrophy	Atrophy of the tibialis muscle.	UMLS:C4023375	hp.json	Tibialis muscle degeneration	http://purl.obolibrary.org/obo/HP_0011399							
HP:0011400	biolink:PhenotypicFeature	Abnormal CNS myelination	An abnormality of myelination of nerves in the central nervous system.	UMLS:C4021152	hp.json	Abnormal formation of myelin sheaths	http://purl.obolibrary.org/obo/HP_0011400							
HP:0011401	biolink:PhenotypicFeature	Delayed peripheral myelination	Delayed myelination in the peripheral nervous system.	UMLS:C4023374	hp.json		http://purl.obolibrary.org/obo/HP_0011401							
HP:0011402	biolink:PhenotypicFeature	Demyelinating sensory neuropathy	Demyelination of peripheral sensory nerves.	UMLS:C4023373	hp.json		http://purl.obolibrary.org/obo/HP_0011402							
HP:0011403	biolink:PhenotypicFeature	Abnormal umbilical cord blood vessels		UMLS:C4023372	hp.json		http://purl.obolibrary.org/obo/HP_0011403							
HP:0011404	biolink:PhenotypicFeature	Lethal short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.	UMLS:C4021151	hp.json	Lethal short-trunk dwarfism	http://purl.obolibrary.org/obo/HP_0011404							
HP:0011405	biolink:PhenotypicFeature	Childhood onset short-limb short stature		UMLS:C1867487	hp.json	Short-limb dwarfism identifiable during childhood	http://purl.obolibrary.org/obo/HP_0011405							
HP:0011406	biolink:PhenotypicFeature	Infancy onset short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.	UMLS:C1846061	hp.json	Short-trunk dwarfism, identifiable in infancy	http://purl.obolibrary.org/obo/HP_0011406							
HP:0011407	biolink:PhenotypicFeature	Proportionate tall stature		UMLS:C4023371	hp.json		http://purl.obolibrary.org/obo/HP_0011407							
HP:0011408	biolink:PhenotypicFeature	Moderate intrauterine growth retardation	Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.	UMLS:C4023370	hp.json		http://purl.obolibrary.org/obo/HP_0011408							
HP:0011409	biolink:PhenotypicFeature	Abnormal placental membrane morphology	Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.	UMLS:C4023369	hp.json	Abnormality of placental membranes	http://purl.obolibrary.org/obo/HP_0011409							
HP:0011410	biolink:PhenotypicFeature	Caesarian section	Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).	SNOMEDCT_US:200144004|UMLS:C1384674	hp.json	Caesarian section	http://purl.obolibrary.org/obo/HP_0011410							
HP:0011411	biolink:PhenotypicFeature	Forceps delivery		UMLS:C0341808	hp.json	Forceps delivery	http://purl.obolibrary.org/obo/HP_0011411							
HP:0011412	biolink:PhenotypicFeature	Ventouse delivery	Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.	MSH:D014620|SNOMEDCT_US:10761101000119105|SNOMEDCT_US:61586001|UMLS:C0042225|UMLS:C1456852|UMLS:C2825567	hp.json	Vacuum extraction|Vacuum-assisted vaginal delivery	http://purl.obolibrary.org/obo/HP_0011412							
HP:0011413	biolink:PhenotypicFeature	Shoulder dystocia	Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.	SNOMEDCT_US:89700002|UMLS:C0269825	hp.json		http://purl.obolibrary.org/obo/HP_0011413							
HP:0011414	biolink:PhenotypicFeature	Hydropic placenta	An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.	SNOMEDCT_US:75094005|UMLS:C0270254	hp.json	Hydrops of the placenta	http://purl.obolibrary.org/obo/HP_0011414							
HP:0011415	biolink:PhenotypicFeature	Calcified placenta		SNOMEDCT_US:249174002|UMLS:C0426234	hp.json		http://purl.obolibrary.org/obo/HP_0011415							
HP:0011416	biolink:PhenotypicFeature	Placental infarction		SNOMEDCT_US:268585006|UMLS:C0554393	hp.json	Placental thromboembolism	http://purl.obolibrary.org/obo/HP_0011416							
HP:0011417	biolink:PhenotypicFeature	Long umbilical cord	Increased length of the umbilical cord.	SNOMEDCT_US:237261008|UMLS:C0405028	hp.json	Long umbilical cord	http://purl.obolibrary.org/obo/HP_0011417							
HP:0011418	biolink:PhenotypicFeature	Abnormal insertion of umbilical cord		MSH:D055949|SNOMEDCT_US:79668009|UMLS:C0269852	hp.json	Vasa previa	http://purl.obolibrary.org/obo/HP_0011418							
HP:0011419	biolink:PhenotypicFeature	Placental abruption	Separation of the placenta from the uterus wall before delivery.	MSH:D000037|SNOMEDCT_US:405736009|SNOMEDCT_US:415105001|UMLS:C0000832	hp.json	Abruptio placentae	http://purl.obolibrary.org/obo/HP_0011419							
HP:0011420	biolink:PhenotypicFeature	Age of death	The age group when the cessation of life happens.	UMLS:C1546180	hp.json		http://purl.obolibrary.org/obo/HP_0011420							
HP:0011421	biolink:PhenotypicFeature	Death in adolescence	Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).	UMLS:C4023368	hp.json	Death in adolescence	http://purl.obolibrary.org/obo/HP_0011421							
HP:0011422	biolink:PhenotypicFeature	Abnormal blood chloride concentration	An abnormality of chloride homeostasis or concentration in the body.	UMLS:C4023367	hp.json	Abnormal blood Cl concentration|Abnormal blood Cl- concentration|Abnormality of chloride homeostasis	http://purl.obolibrary.org/obo/HP_0011422							
HP:0011423	biolink:PhenotypicFeature	Hyperchloremia	An abnormally increased chloride concentration in the blood.	SNOMEDCT_US:74450001|UMLS:C0085679	hp.json		http://purl.obolibrary.org/obo/HP_0011423							
HP:0011424	biolink:PhenotypicFeature	Increased serum zinc	An increased consentration of zinc in the blood.	UMLS:C0854520|UMLS:C0856208	hp.json	Hyperzincemia	http://purl.obolibrary.org/obo/HP_0011424							
HP:0011425	biolink:PhenotypicFeature	Fetal ultrasound soft marker	An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.	UMLS:C4023366	hp.json	Foetal ultrasound soft marker	http://purl.obolibrary.org/obo/HP_0011425							
HP:0011426	biolink:PhenotypicFeature	Fetal choroid plexus cysts	Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).	SNOMEDCT_US:462165005|UMLS:C3532166	hp.json	Foetal choroid plexus cysts	http://purl.obolibrary.org/obo/HP_0011426							
HP:0011427	biolink:PhenotypicFeature	Enlarged fetal cisterna magna	The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).	UMLS:C4023365	hp.json	Enlarged foetal cisterna magna	http://purl.obolibrary.org/obo/HP_0011427							
HP:0011428	biolink:PhenotypicFeature	Short fetal femur length	A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).	UMLS:C0743924	hp.json	Short fetal thigh bone length|Short foetal femur length|Short foetal thigh bone length	http://purl.obolibrary.org/obo/HP_0011428							
HP:0011429	biolink:PhenotypicFeature	Short fetal humerus length	A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).	UMLS:C4023364	hp.json	Short fetal long bone in upper arm length|Short foetal humerus length|Short foetal long bone in upper arm length	http://purl.obolibrary.org/obo/HP_0011429							
HP:0011430	biolink:PhenotypicFeature	Hypoplasia of fetal nasal bone	On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).	UMLS:C4023363	hp.json	Underdeveloped fetal nose bone|Hypoplasia of foetal nasal bone|Underdeveloped foetal nose bone	http://purl.obolibrary.org/obo/HP_0011430							
HP:0011431	biolink:PhenotypicFeature	Fetal fifth finger clinodactyly	Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).	UMLS:C4023362|UMLS:C4280326	hp.json	Fetal little finger curvature|Fetal pinkie finger curvature|Fetal pinky finger curvature|Foetal little finger curvature|Foetal pinkie finger curvature|Foetal pinky finger curvature|Foetal fifth finger clinodactyly	http://purl.obolibrary.org/obo/HP_0011431							
HP:0011432	biolink:PhenotypicFeature	High maternal serum alpha-fetoprotein	An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.	UMLS:C4023361	hp.json		http://purl.obolibrary.org/obo/HP_0011432							
HP:0011433	biolink:PhenotypicFeature	High maternal serum chorionic gonadotropin	An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.	UMLS:C4021150	hp.json	High maternal serum hCG	http://purl.obolibrary.org/obo/HP_0011433							
HP:0011434	biolink:PhenotypicFeature	Low maternal serum chorionic gonadotropin	An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.	UMLS:C4021149	hp.json	Low maternal serum hCG	http://purl.obolibrary.org/obo/HP_0011434							
HP:0011435	biolink:PhenotypicFeature	Low maternal serum PAPP-A	An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.	UMLS:C4023360	hp.json		http://purl.obolibrary.org/obo/HP_0011435							
HP:0011436	biolink:PhenotypicFeature	Abnormal maternal serum screening	An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.	UMLS:C4023359	hp.json		http://purl.obolibrary.org/obo/HP_0011436							
HP:0011437	biolink:PhenotypicFeature	Maternal autoimmune disease	A medical history of a fetus or child born to a mother with an autoimmune disease.	UMLS:C4023358	hp.json		http://purl.obolibrary.org/obo/HP_0011437							
HP:0011438	biolink:PhenotypicFeature	Maternal teratogenic exposure	A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.	UMLS:C4023357	hp.json		http://purl.obolibrary.org/obo/HP_0011438							
HP:0011439	biolink:PhenotypicFeature	Anesthetic-induced rhabdomylosis	Rhabdomyolysis induced by anesthesia.	UMLS:C4023356	hp.json		http://purl.obolibrary.org/obo/HP_0011439							
HP:0011440	biolink:PhenotypicFeature	Alcohol-induced rhabdomyolysis	Rhabdomyolysis induced by intake of alcohol.	UMLS:C4023355	hp.json		http://purl.obolibrary.org/obo/HP_0011440							
HP:0011441	biolink:PhenotypicFeature	Abnormality of the medulla oblongata	An abnormality of the medulla oblongata, the lower half of the brainstem.	UMLS:C4021148	hp.json	Abnormality of the myencephalon	http://purl.obolibrary.org/obo/HP_0011441							
HP:0011442	biolink:PhenotypicFeature	Abnormal central motor function	An anomaly of the control or production of movement in the central nervous system.	UMLS:C4023354	hp.json	Abnormality of central motor function	http://purl.obolibrary.org/obo/HP_0011442							
HP:0011443	biolink:PhenotypicFeature	Abnormality of coordination		UMLS:C4023353	hp.json	Abnormality of coordination|Coordination issue	http://purl.obolibrary.org/obo/HP_0011443							
HP:0011444	biolink:PhenotypicFeature	Decorticate rigidity	A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.	MSH:D003655|SNOMEDCT_US:36423000|UMLS:C0231521	hp.json		http://purl.obolibrary.org/obo/HP_0011444							
HP:0011445	biolink:PhenotypicFeature	Athetoid cerebral palsy	A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.	MSH:D002547|SNOMEDCT_US:230780007|SNOMEDCT_US:75019001|UMLS:C0270742	hp.json	Dyskinetic cerebral palsy	http://purl.obolibrary.org/obo/HP_0011445							
HP:0011446	biolink:PhenotypicFeature	Abnormality of higher mental function	Cognitive, psychiatric or memory anomaly.	UMLS:C4023352	hp.json		http://purl.obolibrary.org/obo/HP_0011446							
HP:0011447	biolink:PhenotypicFeature	Hyposegmentation of neutrophil nuclei	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.	MSH:D010381|SNOMEDCT_US:85559002|UMLS:C0030779|UMLS:C4023351	hp.json	Hyposegmentation of neutrophil nuclei in peripheral blood|Pelger-Huet anomaly	http://purl.obolibrary.org/obo/HP_0011447							
HP:0011448	biolink:PhenotypicFeature	Ankle clonus	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.	SNOMEDCT_US:39055007|UMLS:C0238651	hp.json	Abnormal rhythmic movements of ankle	http://purl.obolibrary.org/obo/HP_0011448							
HP:0011449	biolink:PhenotypicFeature	Knee clonus	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.	SNOMEDCT_US:54360005|UMLS:C0520823	hp.json	Patellar clonus	http://purl.obolibrary.org/obo/HP_0011449							
HP:0011450	biolink:PhenotypicFeature	Unusual CNS infection	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.	MSH:D002494|SNOMEDCT_US:128117002|UMLS:C0007684	hp.json	Central nervous system infection	http://purl.obolibrary.org/obo/HP_0011450							
HP:0011451	biolink:PhenotypicFeature	Primary microcephaly	Head circumference below 2 standard deviations below the mean for age and gender at birth.	UMLS:C2677180|UMLS:C4020749	hp.json	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 microcephaly|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							
HP:0011452	biolink:PhenotypicFeature	Functional abnormality of the middle ear	An abnormality of the function of the middle ear.	UMLS:C4021846	hp.json	Functional abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0011452							
HP:0011453	biolink:PhenotypicFeature	Abnormality of the incus	An abnormality of the incus, an ossicle in the middle ear.	UMLS:C4023350	hp.json		http://purl.obolibrary.org/obo/HP_0011453							
HP:0011454	biolink:PhenotypicFeature	Abnormality of the malleus	An abnormality of the malleus, an ossicle in the middle ear.	UMLS:C4023349	hp.json		http://purl.obolibrary.org/obo/HP_0011454							
HP:0011455	biolink:PhenotypicFeature	Absent malleus	Aplasia of the malleus.	SNOMEDCT_US:300169003|UMLS:C0576900	hp.json		http://purl.obolibrary.org/obo/HP_0011455							
HP:0011456	biolink:PhenotypicFeature	Absent stapes	Aplasia of the stapes.	SNOMEDCT_US:300178009|UMLS:C0576909	hp.json		http://purl.obolibrary.org/obo/HP_0011456							
HP:0011457	biolink:PhenotypicFeature	Loss of eyelashes	This term refers to the loss of eyelashes that were previously present.	SNOMEDCT_US:34887006|UMLS:C0271321	hp.json	Eyelashes fell out|Loss of eyelashes|Missing eyelashes|Ciliary Madarosis|Milphosis	http://purl.obolibrary.org/obo/HP_0011457							
HP:0011458	biolink:PhenotypicFeature	Abdominal symptom	A subjective manifestation of disease localized to the abdomen.	UMLS:C0740651	hp.json		http://purl.obolibrary.org/obo/HP_0011458							
HP:0011459	biolink:PhenotypicFeature	Esophageal carcinoma	The presence of a carcinoma of the esophagus.	SNOMEDCT_US:372138000|UMLS:C0152018	hp.json		http://purl.obolibrary.org/obo/HP_0011459							
HP:0011460	biolink:PhenotypicFeature	Embryonal onset	Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).	UMLS:C4023348	hp.json		http://purl.obolibrary.org/obo/HP_0011460							
HP:0011461	biolink:PhenotypicFeature	Fetal onset	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).	UMLS:C4023347	hp.json	Foetal onset	http://purl.obolibrary.org/obo/HP_0011461							
HP:0011462	biolink:PhenotypicFeature	Young adult onset	Onset of disease at the age of between 16 and 40 years.	UMLS:C3554568	hp.json		http://purl.obolibrary.org/obo/HP_0011462							
HP:0011463	biolink:PhenotypicFeature	Childhood onset	Onset of disease at the age of between 1 and 5 years.	UMLS:C1837352	hp.json	Symptoms begin in childhood	http://purl.obolibrary.org/obo/HP_0011463							
HP:0011464	biolink:PhenotypicFeature	Aganglionosis of the small intestine	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.	UMLS:C4023346	hp.json		http://purl.obolibrary.org/obo/HP_0011464							
HP:0011465	biolink:PhenotypicFeature	Duodenal aganglionosis	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.	UMLS:C4023345	hp.json		http://purl.obolibrary.org/obo/HP_0011465							
HP:0011466	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the gallbladder	Absence or underdevelopment of the gallbladder.	UMLS:C4023344	hp.json	Absent/small gallbladder|Absent/underdeveloped gallbladder	http://purl.obolibrary.org/obo/HP_0011466							
HP:0011467	biolink:PhenotypicFeature	Absent gallbladder	A developmental defect in which the gallbladder fails to form.	MSH:C562564|SNOMEDCT_US:86507001|UMLS:C0266251	hp.json	Absent gallbladder|Agenesis of the gallbladder|Aplasia of the gallbladder	http://purl.obolibrary.org/obo/HP_0011467							
HP:0011468	biolink:PhenotypicFeature	Facial tics	Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.	SNOMEDCT_US:230335009|SNOMEDCT_US:32402008|UMLS:C0278151|UMLS:C0338467|UMLS:C0858722|UMLS:C4280324|UMLS:C4280325	hp.json	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							
HP:0011469	biolink:PhenotypicFeature	Nasal regurgitation	Regurgitation of milk through the nose.	SNOMEDCT_US:85023004|UMLS:C0232608	hp.json		http://purl.obolibrary.org/obo/HP_0011469							
HP:0011470	biolink:PhenotypicFeature	Nasogastric tube feeding in infancy	Feeding problem necessitating nasogastric tube feeding.	UMLS:C4023343	hp.json		http://purl.obolibrary.org/obo/HP_0011470							
HP:0011471	biolink:PhenotypicFeature	Gastrostomy tube feeding in infancy	Feeding problem necessitating gastrostomy tube feeding.	UMLS:C4020748|UMLS:C4023342	hp.json	PEG-fed in infancy	http://purl.obolibrary.org/obo/HP_0011471							
HP:0011472	biolink:PhenotypicFeature	Abnormality of small intestinal villus morphology		UMLS:C4023341	hp.json	Abnormal shape of small intestinal villus	http://purl.obolibrary.org/obo/HP_0011472							
HP:0011473	biolink:PhenotypicFeature	Villous atrophy	The enteric villi are atrophic or absent.	SNOMEDCT_US:275403002|SNOMEDCT_US:75581001|UMLS:C0267456|UMLS:C0554101|UMLS:C1833058|UMLS:C1859541|UMLS:C2677378|UMLS:C4020747	hp.json	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							hposlim_core
HP:0011474	biolink:PhenotypicFeature	Childhood onset sensorineural hearing impairment	Sensorineural hearing impairment with childhood onset.	UMLS:C4023340	hp.json		http://purl.obolibrary.org/obo/HP_0011474							
HP:0011475	biolink:PhenotypicFeature	Persistent stapedial artery	Persistence of the stapedial artery, which normally regresses during embryonic life.	UMLS:C4023339	hp.json		http://purl.obolibrary.org/obo/HP_0011475							
HP:0011476	biolink:PhenotypicFeature	Profound sensorineural hearing impairment	Complete loss of hearing related to a sensorineural defect.	UMLS:C4023338	hp.json		http://purl.obolibrary.org/obo/HP_0011476							
HP:0011477	biolink:PhenotypicFeature	Upbeat nystagmus	In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.	SNOMEDCT_US:307677002|UMLS:C0585545	hp.json		http://purl.obolibrary.org/obo/HP_0011477							
HP:0011478	biolink:PhenotypicFeature	True anophthalmia	Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.	UMLS:C2675590	hp.json	Completely missing eyeball|Complete anophthalmia|Total anophthalmia	http://purl.obolibrary.org/obo/HP_0011478							
HP:0011479	biolink:PhenotypicFeature	Abnormal lacrimal punctum morphology	An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.	UMLS:C4023337	hp.json	Abnormality of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0011479							
HP:0011480	biolink:PhenotypicFeature	Unilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of one eye.	UMLS:C3640024|UMLS:C4280323	hp.json	Abnormally small eyeball on one side|Unilateral nanophthalmos	http://purl.obolibrary.org/obo/HP_0011480							
HP:0011481	biolink:PhenotypicFeature	Abnormal lacrimal duct morphology	An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.	UMLS:C1858567	hp.json	Abnormality of the lacrimal canaliculus|Abnormality of the lacrimal duct	http://purl.obolibrary.org/obo/HP_0011481							
HP:0011482	biolink:PhenotypicFeature	Abnormal lacrimal gland morphology	Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.	UMLS:C4023336	hp.json	Abnormality of the lacrimal gland	http://purl.obolibrary.org/obo/HP_0011482							
HP:0011483	biolink:PhenotypicFeature	Anterior synechiae of the anterior chamber	Adhesions between the iris and the cornea.	SNOMEDCT_US:70992005|UMLS:C0152252	hp.json	Anterior synechiae|Cornea-iris adhesion|Iridocorneal synechia	http://purl.obolibrary.org/obo/HP_0011483							
HP:0011484	biolink:PhenotypicFeature	Posterior synechiae of the anterior chamber	Adhesions between the iris and the lens.	SNOMEDCT_US:111512005|UMLS:C0152253	hp.json	Iridolenticular adhesions|Posterior synechiae	http://purl.obolibrary.org/obo/HP_0011484							
HP:0011485	biolink:PhenotypicFeature	Corneolenticular adhesion	Developmental abnormality in which the lens and cornea are not separated.	UMLS:C4023334	hp.json		http://purl.obolibrary.org/obo/HP_0011485							
HP:0011486	biolink:PhenotypicFeature	Abnormality of corneal thickness	An abnormal anteroposterior thickness of the cornea.	UMLS:C4023333	hp.json		http://purl.obolibrary.org/obo/HP_0011486							
HP:0011487	biolink:PhenotypicFeature	Increased corneal thickness	A increased anteroposterior thickness of the cornea.	UMLS:C3810451	hp.json		http://purl.obolibrary.org/obo/HP_0011487							
HP:0011488	biolink:PhenotypicFeature	Abnormal corneal endothelium morphology	Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.	UMLS:C4023332	hp.json	Abnormality of corneal endothelium	http://purl.obolibrary.org/obo/HP_0011488							
HP:0011489	biolink:PhenotypicFeature	Abnormal migration of corneal endothelium	Abnormal migration of corneal endothelium.	UMLS:C4023331	hp.json		http://purl.obolibrary.org/obo/HP_0011489							
HP:0011490	biolink:PhenotypicFeature	Abnormal Descemet membrane morphology	Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.	UMLS:C4023330	hp.json	Abnormality of Descemet's membrane	http://purl.obolibrary.org/obo/HP_0011490							
HP:0011491	biolink:PhenotypicFeature	Reduced number of corneal endothelial cells	A reduction in the number of corneal endothelial cells.	UMLS:C4023329	hp.json		http://purl.obolibrary.org/obo/HP_0011491							
HP:0011492	biolink:PhenotypicFeature	Abnormality of corneal stroma	An abnormality of the stroma of cornea, also known as the substantia propria of cornea.	UMLS:C4023328	hp.json		http://purl.obolibrary.org/obo/HP_0011492							
HP:0011493	biolink:PhenotypicFeature	Central opacification of the cornea	Reduced transparency of the central portion of the corneal stroma.	UMLS:C4023327	hp.json		http://purl.obolibrary.org/obo/HP_0011493							
HP:0011494	biolink:PhenotypicFeature	Generalized opacification of the cornea	Generalized reduced transparency of the stroma of the cornea.	UMLS:C4021147	hp.json	Generalised opacification of the cornea	http://purl.obolibrary.org/obo/HP_0011494							
HP:0011495	biolink:PhenotypicFeature	Abnormal corneal epithelium morphology	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.	UMLS:C4023326	hp.json	Abnormality of corneal epithelium	http://purl.obolibrary.org/obo/HP_0011495							
HP:0011496	biolink:PhenotypicFeature	Corneal neovascularization	Ingrowth of new blood vessels into the cornea.	MSH:D016510|SNOMEDCT_US:19161004|UMLS:C0085109	hp.json	New blood vessel formation in cornea|Corneal neovascularisation|Corneal vascularization|Limbal neovascularization|Corneal pannus	http://purl.obolibrary.org/obo/HP_0011496							
HP:0011497	biolink:PhenotypicFeature	Iris neovascularization	New growth of vessels on the surface of the iris.	SNOMEDCT_US:51995000|UMLS:C0154916	hp.json	New blood vessel formation in iris|Neovascularization of the iris	http://purl.obolibrary.org/obo/HP_0011497							
HP:0011498	biolink:PhenotypicFeature	obsolete Partial aniridia			hp.json		http://purl.obolibrary.org/obo/HP_0011498							
HP:0011499	biolink:PhenotypicFeature	Mydriasis	Abnormal dilatation of the iris.	MSH:D015878|SNOMEDCT_US:37125009|UMLS:C0026961	hp.json	Dilated pupil	http://purl.obolibrary.org/obo/HP_0011499							hposlim_core
HP:0011500	biolink:PhenotypicFeature	Polycoria	Multiple pupils.	SNOMEDCT_US:204159004|UMLS:C0344544	hp.json	Multiple pupils	http://purl.obolibrary.org/obo/HP_0011500							
HP:0011501	biolink:PhenotypicFeature	Anterior lenticonus	A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.	SNOMEDCT_US:95480008|UMLS:C0344262	hp.json		http://purl.obolibrary.org/obo/HP_0011501							
HP:0011502	biolink:PhenotypicFeature	Posterior lenticonus	A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.	SNOMEDCT_US:95482000|UMLS:C0344263	hp.json		http://purl.obolibrary.org/obo/HP_0011502							
HP:0011503	biolink:PhenotypicFeature	Aplasia of the fovea	Congenital absence of the fovea.	UMLS:C4023324	hp.json	Absent fovea	http://purl.obolibrary.org/obo/HP_0011503							
HP:0011504	biolink:PhenotypicFeature	Bull's eye maculopathy	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.	MSH:C537833|SNOMEDCT_US:312958000|SNOMEDCT_US:424169002|UMLS:C0730330|UMLS:C1828210	hp.json	Chloroquine retinopathy	http://purl.obolibrary.org/obo/HP_0011504							
HP:0011505	biolink:PhenotypicFeature	Cystoid macular edema	Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.	MSH:D008269|SNOMEDCT_US:193387007|UMLS:C0024440	hp.json	Cystoid macular oedema	http://purl.obolibrary.org/obo/HP_0011505							
HP:0011506	biolink:PhenotypicFeature	Choroidal neovascularization	Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.	UMLS:C4023323	hp.json		http://purl.obolibrary.org/obo/HP_0011506							
HP:0011507	biolink:PhenotypicFeature	Macular flecks	Pale often indistinct lesions of the macula.	UMLS:C4023322	hp.json		http://purl.obolibrary.org/obo/HP_0011507							
HP:0011508	biolink:PhenotypicFeature	Macular hole	A macular hole is a small break in the macula, located in the center of the retina.	MSH:D012167|SNOMEDCT_US:232006002|UMLS:C0024441	hp.json		http://purl.obolibrary.org/obo/HP_0011508							
HP:0011509	biolink:PhenotypicFeature	Macular hyperpigmentation	Increased amount of pigmentation in the macula lutea.	UMLS:C0745109	hp.json		http://purl.obolibrary.org/obo/HP_0011509							
HP:0011510	biolink:PhenotypicFeature	Drusen	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.	SNOMEDCT_US:18695008|UMLS:C1260959	hp.json		http://purl.obolibrary.org/obo/HP_0011510							
HP:0011511	biolink:PhenotypicFeature	Macular schisis	Splitting of the retina in the macular region.	UMLS:C4023321	hp.json		http://purl.obolibrary.org/obo/HP_0011511							
HP:0011512	biolink:PhenotypicFeature	Hyperpigmentation of the fundus	Increased pigmentation of the fundus	UMLS:C4021146	hp.json	Hyperpigmented fundi|Hyperpigmented fundus	http://purl.obolibrary.org/obo/HP_0011512							
HP:0011513	biolink:PhenotypicFeature	Retinal cavernous angioma	A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.	SNOMEDCT_US:312937006|UMLS:C0730304	hp.json		http://purl.obolibrary.org/obo/HP_0011513							
HP:0011514	biolink:PhenotypicFeature	Abnormality of binocular vision	An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.	UMLS:C4023320	hp.json		http://purl.obolibrary.org/obo/HP_0011514							
HP:0011515	biolink:PhenotypicFeature	Abnormal stereopsis	Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.	UMLS:C4023319	hp.json		http://purl.obolibrary.org/obo/HP_0011515							
HP:0011516	biolink:PhenotypicFeature	Achromatopsia	A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.	MSH:C536021|SNOMEDCT_US:102450007|UMLS:C0302129	hp.json	Rod monochromacy|Rod monochromatism	http://purl.obolibrary.org/obo/HP_0011516							
HP:0011517	biolink:PhenotypicFeature	Cone monochromacy	The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.	UMLS:C4023318	hp.json		http://purl.obolibrary.org/obo/HP_0011517							
HP:0011518	biolink:PhenotypicFeature	Dichromacy	Individuals affected by dichromacy possess only two types of cones, instead of three.	UMLS:C4023317	hp.json		http://purl.obolibrary.org/obo/HP_0011518							
HP:0011519	biolink:PhenotypicFeature	Anomalous trichromacy	Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.	UMLS:C4023316	hp.json		http://purl.obolibrary.org/obo/HP_0011519							
HP:0011520	biolink:PhenotypicFeature	Deuteranomaly	A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016	hp.json	Green-weak|Deuteranomoly	http://purl.obolibrary.org/obo/HP_0011520							
HP:0011521	biolink:PhenotypicFeature	Deuteranopia	Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016	hp.json	Green-blind	http://purl.obolibrary.org/obo/HP_0011521							
HP:0011522	biolink:PhenotypicFeature	Protanopia	Blue and green cones only; no functional red cones.	MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015	hp.json	Red-blind	http://purl.obolibrary.org/obo/HP_0011522							
HP:0011523	biolink:PhenotypicFeature	Iris cyst	An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.	SNOMEDCT_US:37761009|UMLS:C0271119	hp.json		http://purl.obolibrary.org/obo/HP_0011523							
HP:0011524	biolink:PhenotypicFeature	Iris melanoma	Malignant tumor of melanocytes affecting the iris.	NCIT:C3224|SNOMEDCT_US:255012009|UMLS:C0346373	hp.json		http://purl.obolibrary.org/obo/HP_0011524							
HP:0011525	biolink:PhenotypicFeature	Iris nevus	A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.	SNOMEDCT_US:95711003|UMLS:C0346376	hp.json	Eye freckle	http://purl.obolibrary.org/obo/HP_0011525							
HP:0011526	biolink:PhenotypicFeature	Abnormality of lens shape	An abnormal shape of the lens.	UMLS:C4023314	hp.json	Abnormality of lens shape	http://purl.obolibrary.org/obo/HP_0011526							
HP:0011527	biolink:PhenotypicFeature	Lentiglobus	Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.	SNOMEDCT_US:419281007|UMLS:C1622439|UMLS:C4280322	hp.json	Bulging of eye lens	http://purl.obolibrary.org/obo/HP_0011527							hposlim_core
HP:0011528	biolink:PhenotypicFeature	Solitary congenital hypertrophy of retinal pigment epithelium	Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.	UMLS:C4021145	hp.json	Single isolated CHRPE|Single isolated congenital hypertrophy of retinal pigment epithelium	http://purl.obolibrary.org/obo/HP_0011528							
HP:0011529	biolink:PhenotypicFeature	Multiple bilateral congenital hypertrophy of retinal pigment epithelium	Sharply demarcated hyperpigmentation which is congenital.	UMLS:C4021144	hp.json	Multiple bilateral CHRPE	http://purl.obolibrary.org/obo/HP_0011529							
HP:0011530	biolink:PhenotypicFeature	Retinal hole	A small break in the retina.	MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|UMLS:C0035321	hp.json	Retinal holes	http://purl.obolibrary.org/obo/HP_0011530							
HP:0011531	biolink:PhenotypicFeature	Vitritis	Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.	SNOMEDCT_US:95802009|UMLS:C0235812	hp.json	Hyalitis|Vitreitis	http://purl.obolibrary.org/obo/HP_0011531							hposlim_core
HP:0011532	biolink:PhenotypicFeature	Subretinal exudate	A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.	SNOMEDCT_US:247156002|UMLS:C0423431	hp.json		http://purl.obolibrary.org/obo/HP_0011532							
HP:0011533	biolink:PhenotypicFeature	Snowflake vitreoretinal degeneration	The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.	MSH:C536677|UMLS:C1860405	hp.json	Snowflake retinal degeneration	http://purl.obolibrary.org/obo/HP_0011533							
HP:0011534	biolink:PhenotypicFeature	Abnormal spatial orientation of the cardiac segments	Abnormality of the spatial relationship of the cardiac segments to other components of the heart.	UMLS:C4023313	hp.json		http://purl.obolibrary.org/obo/HP_0011534							
HP:0011535	biolink:PhenotypicFeature	Abnormal atrial arrangement	Abnormality of the spatial relationship of the atria to other components of the heart.	SNOMEDCT_US:445898001|UMLS:C2959688	hp.json	Abnormal location of heart atrium	http://purl.obolibrary.org/obo/HP_0011535							
HP:0011536	biolink:PhenotypicFeature	Right atrial isomerism	Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.	MSH:D059446|UMLS:C3178806	hp.json		http://purl.obolibrary.org/obo/HP_0011536							
HP:0011537	biolink:PhenotypicFeature	Left atrial isomerism	In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.	EPCC:03.01.05|ICD-10:Q20.6|MSH:D059446|UMLS:C3178807	hp.json		http://purl.obolibrary.org/obo/HP_0011537							
HP:0011538	biolink:PhenotypicFeature	Atrial situs inversus	Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.	EPCC:03.01.03|Fyler:0150|Fyler:150|ICD-10:Q89.3|UMLS:C4023312	hp.json		http://purl.obolibrary.org/obo/HP_0011538							
HP:0011539	biolink:PhenotypicFeature	Atrial situs ambiguous	Common atrium without defining morphologic features.	SNOMEDCT_US:448681000|UMLS:C3164429	hp.json	Atrial heterotaxy|Atrial situs ambiguus	http://purl.obolibrary.org/obo/HP_0011539							
HP:0011540	biolink:PhenotypicFeature	Congenitally corrected transposition of the great arteries	The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.	EPCC:01.01.03|ICD-10:Q20.5|MSH:C535426|SNOMEDCT_US:56743000|SNOMEDCT_US:83799000|UMLS:C0232301|UMLS:C0344616	hp.json	L-transposition|Ventricular inversion	http://purl.obolibrary.org/obo/HP_0011540							
HP:0011541	biolink:PhenotypicFeature	Criss-cross atrioventricular valves	Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.	UMLS:C4023310	hp.json		http://purl.obolibrary.org/obo/HP_0011541							
HP:0011542	biolink:PhenotypicFeature	Criss-cross atrioventricular valves with superior-inferior ventricles	Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.	UMLS:C4023309	hp.json		http://purl.obolibrary.org/obo/HP_0011542							
HP:0011543	biolink:PhenotypicFeature	Superior-inferior ventricles without criss-cross atrioventricular valves		Fyler:0184|Fyler:184|UMLS:C4023308	hp.json		http://purl.obolibrary.org/obo/HP_0011543							
HP:0011544	biolink:PhenotypicFeature	L-looping of the right ventricle		UMLS:C4023307	hp.json		http://purl.obolibrary.org/obo/HP_0011544							
HP:0011545	biolink:PhenotypicFeature	Abnormal connection of the cardiac segments	A deviance in the normal connections between two cardiac segements.	UMLS:C4023306	hp.json	Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments	http://purl.obolibrary.org/obo/HP_0011545							
HP:0011546	biolink:PhenotypicFeature	Abnormal atrioventricular connection	An abnormality of the circulatory connection between atria and ventricles.	SNOMEDCT_US:253274005|UMLS:C0344612	hp.json	Abnormal atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011546							
HP:0011547	biolink:PhenotypicFeature	Absent left sided atrioventricular connection	A defect where there is no connection between the left atrium and left ventricle.	SNOMEDCT_US:253290005|UMLS:C0344629	hp.json	Absent left sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011547							
HP:0011548	biolink:PhenotypicFeature	Absent right sided atrioventricular connection	A defect where there is no connection between the right atrium and right ventricle.	SNOMEDCT_US:253285007|UMLS:C0344624	hp.json	Absent right sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011548							
HP:0011549	biolink:PhenotypicFeature	Univentricular heart with absent left sided atrioventricular connection		UMLS:C4023305	hp.json	Univentricular heart with absent left sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011549							
HP:0011550	biolink:PhenotypicFeature	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection		UMLS:C4023304	hp.json		http://purl.obolibrary.org/obo/HP_0011550							
HP:0011551	biolink:PhenotypicFeature	Right sided atrium to left ventricle and absent left sided atrioventricular connection		UMLS:C4023303	hp.json	Right sided atrium to left ventricle and absent left sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011551							
HP:0011552	biolink:PhenotypicFeature	Ambiguous atrioventricular connection	With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).	SNOMEDCT_US:253278008|UMLS:C0344617	hp.json	Ambiguous atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011552							
HP:0011553	biolink:PhenotypicFeature	Discordant atrioventricular connection	Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.	SNOMEDCT_US:253277003|UMLS:C0344615	hp.json	Discordant atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011553							
HP:0011554	biolink:PhenotypicFeature	Double inlet atrioventricular connection	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.	EPCC:01.01.14|ICD-10:Q20.4|UMLS:C4023302	hp.json	Double inlet atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011554							
HP:0011555	biolink:PhenotypicFeature	Double inlet left ventricle	The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.	EPCC:01.04.04|ICD-10:Q20.4|SNOMEDCT_US:253283000|UMLS:C0344622	hp.json		http://purl.obolibrary.org/obo/HP_0011555							
HP:0011556	biolink:PhenotypicFeature	Double inlet right ventricle	The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.	EPCC:01.04.03|ICD-10:Q20.4|SNOMEDCT_US:253282005|UMLS:C0344621	hp.json		http://purl.obolibrary.org/obo/HP_0011556							
HP:0011557	biolink:PhenotypicFeature	Double inlet to single ventricle of indeterminate morphology	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.	UMLS:C4023301	hp.json		http://purl.obolibrary.org/obo/HP_0011557							
HP:0011558	biolink:PhenotypicFeature	Double inlet to single ventricle with common atrioventricular orifice		UMLS:C4023300	hp.json		http://purl.obolibrary.org/obo/HP_0011558							
HP:0011559	biolink:PhenotypicFeature	Double inlet to single ventricle with two atrioventricular valves		UMLS:C4023299	hp.json		http://purl.obolibrary.org/obo/HP_0011559							
HP:0011560	biolink:PhenotypicFeature	Mitral atresia	A congenital defect with failure to open of the mitral valve orifice.	EPCC:06.02.01|Fyler:0310|Fyler:310|ICD-10:Q23.2|SNOMEDCT_US:23063005|UMLS:C0344760	hp.json	Mitral valve atresia	http://purl.obolibrary.org/obo/HP_0011560							
HP:0011561	biolink:PhenotypicFeature	Overriding atrioventricular valve	An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.	UMLS:C4023298	hp.json		http://purl.obolibrary.org/obo/HP_0011561							
HP:0011562	biolink:PhenotypicFeature	Straddling atrioventricular valve	Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.	UMLS:C4023297	hp.json		http://purl.obolibrary.org/obo/HP_0011562							
HP:0011563	biolink:PhenotypicFeature	Abnormal ventriculoarterial connection	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.	UMLS:C4023296	hp.json	Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection	http://purl.obolibrary.org/obo/HP_0011563							
HP:0011564	biolink:PhenotypicFeature	Mitral valve arcade	Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.	UMLS:C4021143	hp.json	Hammock mitral valve	http://purl.obolibrary.org/obo/HP_0011564							
HP:0011565	biolink:PhenotypicFeature	Common atrium	Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.	Fyler:1140|ICD-10:Q21.2|SNOMEDCT_US:253276007|UMLS:C0392482	hp.json	Single atrium	http://purl.obolibrary.org/obo/HP_0011565							
HP:0011566	biolink:PhenotypicFeature	Cor triatriatum dexter	A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.	Fyler:2854|SNOMEDCT_US:274947007|UMLS:C0344697	hp.json	Cor triatriatum dextrum	http://purl.obolibrary.org/obo/HP_0011566							
HP:0011567	biolink:PhenotypicFeature	Sinus venosus atrial septal defect	An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.	Fyler:2010|ICD-10:Q21.1|MSH:C548009|SNOMEDCT_US:95268002|UMLS:C0344730	hp.json		http://purl.obolibrary.org/obo/HP_0011567							
HP:0011568	biolink:PhenotypicFeature	Double orifice mitral valve	The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.	SNOMEDCT_US:253402005|UMLS:C0344770	hp.json		http://purl.obolibrary.org/obo/HP_0011568							
HP:0011569	biolink:PhenotypicFeature	Cleft anterior mitral valve leaflet	Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.	UMLS:C4023295	hp.json		http://purl.obolibrary.org/obo/HP_0011569							
HP:0011570	biolink:PhenotypicFeature	Congenital mitral stenosis	Mitral stenosis with congenital onset.	SNOMEDCT_US:82458004|UMLS:C0158618	hp.json		http://purl.obolibrary.org/obo/HP_0011570							
HP:0011571	biolink:PhenotypicFeature	Parachute mitral valve	Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.	SNOMEDCT_US:204362007|UMLS:C0546965	hp.json		http://purl.obolibrary.org/obo/HP_0011571							
HP:0011572	biolink:PhenotypicFeature	Supramitral ring	A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.	UMLS:C4021142	hp.json	Membranous supravalvular mitral stenosis|Supravalvular mitral ring	http://purl.obolibrary.org/obo/HP_0011572							
HP:0011573	biolink:PhenotypicFeature	Hypoplastic tricuspid valve	Congenital defect characterized by underdevelopment of the tricuspid valve.	Fyler:1720|UMLS:C4023294	hp.json	Tricuspid valve hypoplasia|Underdeveloped tricuspid valve	http://purl.obolibrary.org/obo/HP_0011573							
HP:0011574	biolink:PhenotypicFeature	Imperforate atrioventricular valve	An atrioventricular valve that has failed to open (atretic).	UMLS:C4023293	hp.json	Unopened atrioventricular valve	http://purl.obolibrary.org/obo/HP_0011574							
HP:0011575	biolink:PhenotypicFeature	Imperforate tricuspid valve	A tricuspid valve that has failed to open.	UMLS:C4023292	hp.json	Unopened tricuspid valve	http://purl.obolibrary.org/obo/HP_0011575							
HP:0011576	biolink:PhenotypicFeature	Intermediate atrioventricular canal defect	A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.	Fyler:1121|UMLS:C4023291	hp.json	Intermediate atrioventricular septal defect	http://purl.obolibrary.org/obo/HP_0011576							
HP:0011577	biolink:PhenotypicFeature	Partial atrioventricular canal defect	A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.	SNOMEDCT_US:718216009|UMLS:C4023290	hp.json		http://purl.obolibrary.org/obo/HP_0011577							
HP:0011578	biolink:PhenotypicFeature	Transitional atrioventricular canal defect	A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.	UMLS:C4023289	hp.json		http://purl.obolibrary.org/obo/HP_0011578							
HP:0011579	biolink:PhenotypicFeature	Unbalanced atrioventricular canal defect	Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).	UMLS:C3280940	hp.json	Unbalanced atrioventricular septal defect	http://purl.obolibrary.org/obo/HP_0011579							
HP:0011580	biolink:PhenotypicFeature	Short chordae tendineae of the mitral valve	Abnormally short chordae tendineae of the mitral valve.	UMLS:C4023288	hp.json		http://purl.obolibrary.org/obo/HP_0011580							
HP:0011581	biolink:PhenotypicFeature	Double outlet left ventricle	A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.	Fyler:0650|Fyler:650|ICD-10:Q20.2|SNOMEDCT_US:7368005|UMLS:C0265809	hp.json		http://purl.obolibrary.org/obo/HP_0011581							
HP:0011582	biolink:PhenotypicFeature	Abdominal ectopia cordis	Displacement of the heart outside the thoracic cavity and into the abdomen.	UMLS:C4023287	hp.json		http://purl.obolibrary.org/obo/HP_0011582							
HP:0011583	biolink:PhenotypicFeature	Cervical ectopia cordis	A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.	UMLS:C4023286	hp.json		http://purl.obolibrary.org/obo/HP_0011583							
HP:0011584	biolink:PhenotypicFeature	Thoracocervical ectopia cordis	A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.	UMLS:C4023285	hp.json		http://purl.obolibrary.org/obo/HP_0011584							
HP:0011585	biolink:PhenotypicFeature	Thoracic ectopia cordis	Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.	UMLS:C4023284	hp.json		http://purl.obolibrary.org/obo/HP_0011585							
HP:0011586	biolink:PhenotypicFeature	Thoracoabdominal ectopia cordis	Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.	UMLS:C4023283	hp.json		http://purl.obolibrary.org/obo/HP_0011586							
HP:0011587	biolink:PhenotypicFeature	Abnormal branching pattern of the aortic arch	A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.	UMLS:C4023282	hp.json		http://purl.obolibrary.org/obo/HP_0011587							
HP:0011588	biolink:PhenotypicFeature	Cervical aortic arch	The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.	SNOMEDCT_US:253657003|UMLS:C0345065	hp.json		http://purl.obolibrary.org/obo/HP_0011588							
HP:0011589	biolink:PhenotypicFeature	Common origin of the right brachiocephalic artery and left common carotid artery	The left common carotid artery has a common origin with the innominate artery.	SNOMEDCT_US:460890003|UMLS:C3532020|UMLS:C4020746|UMLS:C4021141	hp.json	Common brachiocephalic trunk|Bovine arch|Ovine arch	http://purl.obolibrary.org/obo/HP_0011589							
HP:0011590	biolink:PhenotypicFeature	Double aortic arch	A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).	Fyler:2761|SNOMEDCT_US:10451007|UMLS:C0265883	hp.json		http://purl.obolibrary.org/obo/HP_0011590							
HP:0011591	biolink:PhenotypicFeature	Left aortic arch with cervical origin of the right subclavian artery		UMLS:C4023281	hp.json		http://purl.obolibrary.org/obo/HP_0011591							
HP:0011592	biolink:PhenotypicFeature	Left aortic arch with isolated subclavian artery	The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.	UMLS:C4023280	hp.json		http://purl.obolibrary.org/obo/HP_0011592							
HP:0011593	biolink:PhenotypicFeature	Left aortic arch with retroesophageal diverticulum of Kommerell	A patent ductus arteriosus or ductal ligament completes the ring.	SNOMEDCT_US:74561007|UMLS:C0265885	hp.json	Kommerell diverticulum	http://purl.obolibrary.org/obo/HP_0011593							
HP:0011594	biolink:PhenotypicFeature	Right aortic arch with retroesophageal diverticulum of Kommerell	Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.	UMLS:C4023279	hp.json		http://purl.obolibrary.org/obo/HP_0011594							
HP:0011595	biolink:PhenotypicFeature	Left aortic arch with retroesophageal right subclavian artery	Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.	UMLS:C4023278	hp.json		http://purl.obolibrary.org/obo/HP_0011595							
HP:0011596	biolink:PhenotypicFeature	Left aortic arch with right descending aorta and right ductus arteriosus	The ring may be completed by the ductal ligament.	UMLS:C4023277	hp.json		http://purl.obolibrary.org/obo/HP_0011596							
HP:0011597	biolink:PhenotypicFeature	Right aortic arch with left descending aorta and left ductus arteriosus		UMLS:C4023276	hp.json		http://purl.obolibrary.org/obo/HP_0011597							
HP:0011598	biolink:PhenotypicFeature	Right aortic arch with retroesophageal left subclavian artery		UMLS:C4021140	hp.json	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	biolink:PhenotypicFeature	Mesocardia	Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.	Fyler:0140|Fyler:140|SNOMEDCT_US:16567006|UMLS:C0265865	hp.json		http://purl.obolibrary.org/obo/HP_0011599							
HP:0011600	biolink:PhenotypicFeature	Abnormal direction of ventricular apex	Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.	UMLS:C4023275	hp.json		http://purl.obolibrary.org/obo/HP_0011600							
HP:0011601	biolink:PhenotypicFeature	Rightward direction of ventricular apex	Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.	UMLS:C4023274	hp.json		http://purl.obolibrary.org/obo/HP_0011601							
HP:0011602	biolink:PhenotypicFeature	Midline direction of ventricular apex	Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.	UMLS:C4023273	hp.json		http://purl.obolibrary.org/obo/HP_0011602							
HP:0011603	biolink:PhenotypicFeature	Congenital malformation of the great arteries	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.	UMLS:C0478012	hp.json		http://purl.obolibrary.org/obo/HP_0011603							
HP:0011604	biolink:PhenotypicFeature	Aortopulmonary window	A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.	Fyler:0560|Fyler:560|MSH:D001028|SNOMEDCT_US:17024001|UMLS:C0003516	hp.json		http://purl.obolibrary.org/obo/HP_0011604							
HP:0011605	biolink:PhenotypicFeature	Congenitally corrected transposition of the great arteries with ventricular septal defect	A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.	UMLS:C4023272	hp.json	CCTGA|ccTGA	http://purl.obolibrary.org/obo/HP_0011605							
HP:0011606	biolink:PhenotypicFeature	obsolete Transposition of the great arteries with intact ventricular septum			hp.json		http://purl.obolibrary.org/obo/HP_0011606							
HP:0011607	biolink:PhenotypicFeature	obsolete Transposition of the great arteries with ventricular septal defect			hp.json		http://purl.obolibrary.org/obo/HP_0011607							
HP:0011608	biolink:PhenotypicFeature	Type II truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.	Fyler:0520|Fyler:520|UMLS:C4021137	hp.json	Persistent truncus arteriosus type II|Type 2 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011608							
HP:0011609	biolink:PhenotypicFeature	Type III truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.	Fyler:0530|Fyler:530|UMLS:C4021136	hp.json	Persistent truncus arteriosus type III|Type 3 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011609							
HP:0011610	biolink:PhenotypicFeature	Type IV truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.	Fyler:0540|Fyler:540|UMLS:C4021135	hp.json	Persistent truncus arteriosus type IV|Type 4 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011610							
HP:0011611	biolink:PhenotypicFeature	Interrupted aortic arch	Non-continuity of the arch of aorta with an atretic point or absent segment.	Fyler:1241|Fyler:1250|SNOMEDCT_US:218728005|UMLS:C0152419	hp.json	Atretic transverse aortic arch|Aortic arch obstruction	http://purl.obolibrary.org/obo/HP_0011611							
HP:0011612	biolink:PhenotypicFeature	Interrupted aortic arch type A	Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.	SNOMEDCT_US:253681005|UMLS:C0345092	hp.json		http://purl.obolibrary.org/obo/HP_0011612							
HP:0011613	biolink:PhenotypicFeature	Interrupted aortic arch type B	Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.	Fyler:1252|SNOMEDCT_US:253682003|UMLS:C0345093	hp.json	Interrupted aortic arch, type b	http://purl.obolibrary.org/obo/HP_0011613							
HP:0011614	biolink:PhenotypicFeature	Interrupted aortic arch type C	Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.	SNOMEDCT_US:253683008|UMLS:C0345094	hp.json		http://purl.obolibrary.org/obo/HP_0011614							
HP:0011615	biolink:PhenotypicFeature	Abnormal pulmonary situs morphology	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.	UMLS:C4023271	hp.json	Abnormality of pulmonary situs	http://purl.obolibrary.org/obo/HP_0011615							
HP:0011616	biolink:PhenotypicFeature	Pulmonary situs inversus	Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.	UMLS:C4023270	hp.json		http://purl.obolibrary.org/obo/HP_0011616							
HP:0011617	biolink:PhenotypicFeature	Pulmonary situs ambiguus	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.	UMLS:C4023269	hp.json		http://purl.obolibrary.org/obo/HP_0011617							
HP:0011618	biolink:PhenotypicFeature	Pulmonary situs ambiguus with bilateral morphologic right lungs	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.	UMLS:C4023268	hp.json		http://purl.obolibrary.org/obo/HP_0011618							
HP:0011619	biolink:PhenotypicFeature	Pulmonary situs ambiguus with bilateral morphologic left lungs	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.	UMLS:C4023267	hp.json		http://purl.obolibrary.org/obo/HP_0011619							
HP:0011620	biolink:PhenotypicFeature	Abnormality of abdominal situs	An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.	UMLS:C4023266	hp.json		http://purl.obolibrary.org/obo/HP_0011620							
HP:0011621	biolink:PhenotypicFeature	Gerbode ventricular septal defect	A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.	SNOMEDCT_US:41893002|UMLS:C0265812|UMLS:C4023265	hp.json	Left ventricular - right atrial communication	http://purl.obolibrary.org/obo/HP_0011621							
HP:0011622	biolink:PhenotypicFeature	Inlet ventricular septal defect	A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.	Fyler:1340	hp.json	Atrioventricular canal type ventricular septal defect|Type 3 ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011622							
HP:0011623	biolink:PhenotypicFeature	Muscular ventricular septal defect	The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.	Fyler:1320|SNOMEDCT_US:94706008|UMLS:C0685707	hp.json	Type 4 ventricular septal defect|Ventricular septal defect, muscular	http://purl.obolibrary.org/obo/HP_0011623							
HP:0011624	biolink:PhenotypicFeature	Apical muscular ventricular septal defect	A muscular ventricular septal defect located at the apex of the heart.	UMLS:C4023264	hp.json		http://purl.obolibrary.org/obo/HP_0011624							
HP:0011625	biolink:PhenotypicFeature	Multiple muscular ventricular septal defects	A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.	UMLS:C4023263	hp.json	Swiss cheese ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011625							
HP:0011626	biolink:PhenotypicFeature	Scimitar anomaly	Right pulmonary venous return to the inferior vena cava.	ICD-10:Q26.8|MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400	hp.json	Pulmonary venolobar syndrome|Scimitar syndrome	http://purl.obolibrary.org/obo/HP_0011626							
HP:0011627	biolink:PhenotypicFeature	Aorto-ventricular tunnel	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.	UMLS:C4023262	hp.json		http://purl.obolibrary.org/obo/HP_0011627							
HP:0011628	biolink:PhenotypicFeature	Congenital defect of the pericardium	A developmental defect of the pericardium with congenital onset.	UMLS:C4023261	hp.json		http://purl.obolibrary.org/obo/HP_0011628							
HP:0011629	biolink:PhenotypicFeature	Total absence of the pericardium	No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.	Fyler:1910|SNOMEDCT_US:253732001|UMLS:C0345140	hp.json	Absent pericardium|Congenital absence of the pericardium	http://purl.obolibrary.org/obo/HP_0011629							
HP:0011630	biolink:PhenotypicFeature	Complete diaphragmatic absence of pericardium	No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.	UMLS:C4023259	hp.json		http://purl.obolibrary.org/obo/HP_0011630							
HP:0011631	biolink:PhenotypicFeature	Complete right sided absence of pericardium	No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.	UMLS:C4023258	hp.json		http://purl.obolibrary.org/obo/HP_0011631							
HP:0011632	biolink:PhenotypicFeature	Partial right sided absence of pericardium	A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.	UMLS:C4023257	hp.json		http://purl.obolibrary.org/obo/HP_0011632							
HP:0011633	biolink:PhenotypicFeature	Complete left sided absence of pericardium	A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.	UMLS:C4023256	hp.json	Absent lining around of left side of heart	http://purl.obolibrary.org/obo/HP_0011633							
HP:0011634	biolink:PhenotypicFeature	Partial left sided absence of pericardium	A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.	UMLS:C4023255	hp.json		http://purl.obolibrary.org/obo/HP_0011634							
HP:0011635	biolink:PhenotypicFeature	Partial diaphragmatic absence of pericardium	Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.	UMLS:C4023254	hp.json		http://purl.obolibrary.org/obo/HP_0011635							
HP:0011636	biolink:PhenotypicFeature	Abnormal coronary artery origin	Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.	UMLS:C4023253	hp.json		http://purl.obolibrary.org/obo/HP_0011636							
HP:0011637	biolink:PhenotypicFeature	Anomalous origin of coronary artery from the pulmonary artery	A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.	UMLS:C4023252	hp.json		http://purl.obolibrary.org/obo/HP_0011637							
HP:0011638	biolink:PhenotypicFeature	Anomalous origin of left coronary artery from the pulmonary artery	Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.	Fyler:3101|SNOMEDCT_US:450301003|UMLS:C3472166	hp.json	ALCAPA|Anomalous left coronary artery from the pulmonary artery|Bland-Garland-White syndrome	http://purl.obolibrary.org/obo/HP_0011638							
HP:0011639	biolink:PhenotypicFeature	Anomalous origin of right coronary artery from the pulmonary artery	Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.	SNOMEDCT_US:450300002|UMLS:C3472165	hp.json		http://purl.obolibrary.org/obo/HP_0011639							
HP:0011640	biolink:PhenotypicFeature	Single coronary artery origin	The presence of a single coronary artery ostium from which both coronary arteries arise.	UMLS:C4023251	hp.json		http://purl.obolibrary.org/obo/HP_0011640							
HP:0011641	biolink:PhenotypicFeature	Coronary artery fistula	A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.	Fyler:2230|SNOMEDCT_US:373093003|UMLS:C0265898	hp.json	Coronary fistula	http://purl.obolibrary.org/obo/HP_0011641							
HP:0011642	biolink:PhenotypicFeature	Abnormal coronary sinus morphology	An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.	Fyler:2840|SNOMEDCT_US:253323000|UMLS:C0344680	hp.json	Abnormality of the coronary sinus	http://purl.obolibrary.org/obo/HP_0011642							
HP:0011643	biolink:PhenotypicFeature	Coronary sinus atrial septal defect	An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.	ICD-10:Q21.1|UMLS:C2063331	hp.json		http://purl.obolibrary.org/obo/HP_0011643							
HP:0011644	biolink:PhenotypicFeature	Coronary sinus diverticulum	A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.	SNOMEDCT_US:447661004|UMLS:C3163894	hp.json	Diverticulum of the coronary sinus	http://purl.obolibrary.org/obo/HP_0011644							
HP:0011645	biolink:PhenotypicFeature	Dilatation of the sinus of Valsalva	Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.	Fyler:2316|SNOMEDCT_US:54160000|UMLS:C2239253	hp.json	Aortic sinus aneurysm|Aneurysm of the aortic sinus|Sinus of Valsalva aneurysm	http://purl.obolibrary.org/obo/HP_0011645							
HP:0011646	biolink:PhenotypicFeature	Juxtaductal coarctation of the aorta	Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.	UMLS:C4023250	hp.json		http://purl.obolibrary.org/obo/HP_0011646							
HP:0011647	biolink:PhenotypicFeature	Postductal coarctation of the aorta	Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.	SNOMEDCT_US:72242008|UMLS:C0265879	hp.json	Postductal aortic coarctation	http://purl.obolibrary.org/obo/HP_0011647							
HP:0011648	biolink:PhenotypicFeature	Patent ductus arteriosus after birth at term	Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.	UMLS:C4023249	hp.json		http://purl.obolibrary.org/obo/HP_0011648							
HP:0011649	biolink:PhenotypicFeature	Patent ductus arteriosus after premature birth	Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.	UMLS:C4023248	hp.json		http://purl.obolibrary.org/obo/HP_0011649							
HP:0011650	biolink:PhenotypicFeature	Bilateral ductus arteriosus	The presence of both a left and a right ductus arteriosus.	SNOMEDCT_US:461093009|UMLS:C0431501	hp.json	Bilateral ductus botalli	http://purl.obolibrary.org/obo/HP_0011650							
HP:0011651	biolink:PhenotypicFeature	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is 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.	SNOMEDCT_US:448516008|UMLS:C3165091	hp.json	DORV with doubly committed VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011651							
HP:0011652	biolink:PhenotypicFeature	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	Fyler:0604|Fyler:604|UMLS:C4023247	hp.json	DORV with doubly committed VSD|Double outlet right ventricle, doubly committed ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011652							
HP:0011653	biolink:PhenotypicFeature	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	UMLS:C4023246	hp.json	DORV with non-committed VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011653							
HP:0011654	biolink:PhenotypicFeature	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	Fyler:0603|Fyler:603|UMLS:C4023245	hp.json	DORV with non-committed VSD without pulmonary stenosis|Double outlet right ventricle, noncommitted ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011654							
HP:0011655	biolink:PhenotypicFeature	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	UMLS:C4023244	hp.json	DORV with subaortic VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011655							
HP:0011656	biolink:PhenotypicFeature	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	UMLS:C4023243	hp.json	DORV with subaortic VSD without pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011656							
HP:0011657	biolink:PhenotypicFeature	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	UMLS:C4023242	hp.json	DORV with subpulmonary VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011657							
HP:0011658	biolink:PhenotypicFeature	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	UMLS:C4023241	hp.json	DORV with subpulmonary VSD without pulmonary stenosis|Taussig-Bing anomaly	http://purl.obolibrary.org/obo/HP_0011658							
HP:0011659	biolink:PhenotypicFeature	Tetralogy of Fallot with absent pulmonary valve	Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.	SNOMEDCT_US:399228007|UMLS:C1302264	hp.json	Tetralogy of Fallot with absent pulmonary valve syndrome	http://purl.obolibrary.org/obo/HP_0011659							
HP:0011660	biolink:PhenotypicFeature	Anomalous origin of one pulmonary artery from ascending aorta	Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.	Fyler:0550|Fyler:550|UMLS:C4021134	hp.json	Hemitruncus	http://purl.obolibrary.org/obo/HP_0011660							
HP:0011661	biolink:PhenotypicFeature	Anomalous origin of left pulmonary artery from ascending aorta	The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.	SNOMEDCT_US:253637002|UMLS:C0345040	hp.json		http://purl.obolibrary.org/obo/HP_0011661							
HP:0011662	biolink:PhenotypicFeature	Tricuspid atresia	Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.	EPCC:06.01.01|Fyler:0400|Fyler:400|ICD-10:Q22.4|MSH:D018785|SNOMEDCT_US:253455004|SNOMEDCT_US:63042009|UMLS:C0243002	hp.json	Tricuspid valve atresia	http://purl.obolibrary.org/obo/HP_0011662							
HP:0011663	biolink:PhenotypicFeature	Right ventricular cardiomyopathy	Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.	UMLS:C2063326	hp.json	Cardiomyopathy, right ventricular|Cardiomyopathy, esp. right ventricular	http://purl.obolibrary.org/obo/HP_0011663							
HP:0011664	biolink:PhenotypicFeature	Left ventricular noncompaction cardiomyopathy	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.	UMLS:C4021133	hp.json	Left ventricular non-compaction cardiomyopathy	http://purl.obolibrary.org/obo/HP_0011664							
HP:0011665	biolink:PhenotypicFeature	Takotsubo cardiomyopathy	Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.	MSH:D054549|SNOMEDCT_US:441541008|UMLS:C1739395	hp.json	Broken-heart syndrome	http://purl.obolibrary.org/obo/HP_0011665							
HP:0011666	biolink:PhenotypicFeature	Absent right superior vena cava	Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.	SNOMEDCT_US:253308005|UMLS:C0344656	hp.json		http://purl.obolibrary.org/obo/HP_0011666							
HP:0011667	biolink:PhenotypicFeature	Bilateral superior vena cava with bridging vein		UMLS:C4023240	hp.json		http://purl.obolibrary.org/obo/HP_0011667							
HP:0011668	biolink:PhenotypicFeature	Bilateral superior vena cava with no bridging vein		UMLS:C4023239	hp.json		http://purl.obolibrary.org/obo/HP_0011668							
HP:0011669	biolink:PhenotypicFeature	Left superior vena cava draining directly to the left atrium	A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.	UMLS:C4023238	hp.json		http://purl.obolibrary.org/obo/HP_0011669							
HP:0011670	biolink:PhenotypicFeature	Left superior vena cava draining to coronary sinus	A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.	ICD-10:Q26.1|UMLS:C2677768	hp.json		http://purl.obolibrary.org/obo/HP_0011670							
HP:0011671	biolink:PhenotypicFeature	Interrupted inferior vena cava with azygous continuation	Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.	ICD-10:26.8|UMLS:C4023237	hp.json		http://purl.obolibrary.org/obo/HP_0011671							
HP:0011672	biolink:PhenotypicFeature	Cardiac myxoma	A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.	NCIT:C6577|SNOMEDCT_US:426191007|UMLS:C1960546	hp.json		http://purl.obolibrary.org/obo/HP_0011672							
HP:0011673	biolink:PhenotypicFeature	Cardiac hemangioma	Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.	NCIT:C3085|UMLS:C1707298	hp.json		http://purl.obolibrary.org/obo/HP_0011673							
HP:0011674	biolink:PhenotypicFeature	Cardiac teratoma	A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The 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.	NCIT:C3403|UMLS:C1112387	hp.json		http://purl.obolibrary.org/obo/HP_0011674							
HP:0011675	biolink:PhenotypicFeature	Arrhythmia	Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.	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	hp.json	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							
HP:0011676	biolink:PhenotypicFeature	Tetralogy of Fallot with absent subarterial conus		UMLS:C4023236	hp.json		http://purl.obolibrary.org/obo/HP_0011676							
HP:0011677	biolink:PhenotypicFeature	Tetralogy of Fallot with atrioventricular canal defect		UMLS:C4023235	hp.json		http://purl.obolibrary.org/obo/HP_0011677							
HP:0011678	biolink:PhenotypicFeature	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).	UMLS:C4023234	hp.json		http://purl.obolibrary.org/obo/HP_0011678							
HP:0011679	biolink:PhenotypicFeature	Tetralogy of Fallot with pulmonary stenosis	The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.	SNOMEDCT_US:253512000|UMLS:C0344881	hp.json		http://purl.obolibrary.org/obo/HP_0011679							
HP:0011680	biolink:PhenotypicFeature	Single ventricle of indeterminate morphology		UMLS:C4023233	hp.json		http://purl.obolibrary.org/obo/HP_0011680							
HP:0011681	biolink:PhenotypicFeature	Subarterial ventricular septal defect	A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.	Fyler:1330|SNOMEDCT_US:448876006|UMLS:C3165130	hp.json	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							
HP:0011682	biolink:PhenotypicFeature	Perimembranous ventricular septal defect	A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.	Fyler:1310|SNOMEDCT_US:109428005|UMLS:C0344925	hp.json	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							
HP:0011683	biolink:PhenotypicFeature	Restrictive ventricular septal defect	Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.	SNOMEDCT_US:253551005|UMLS:C0344924	hp.json		http://purl.obolibrary.org/obo/HP_0011683							
HP:0011684	biolink:PhenotypicFeature	Non-restrictive ventricular septal defect	Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.	SNOMEDCT_US:373131000|UMLS:C1298817	hp.json		http://purl.obolibrary.org/obo/HP_0011684							
HP:0011685	biolink:PhenotypicFeature	Infra-aortic superior vena cava	The superior vena cava passes below the aortic arch.	UMLS:C4023232	hp.json		http://purl.obolibrary.org/obo/HP_0011685							
HP:0011686	biolink:PhenotypicFeature	Abnormal coronary artery course	An abnormal path of a coronary artery.	SNOMEDCT_US:253714001|UMLS:C0345122	hp.json	Anomalous coronary artery course	http://purl.obolibrary.org/obo/HP_0011686							
HP:0011687	biolink:PhenotypicFeature	AV nodal tachycardia	A type of supraventricular tachycardia that originates in the atrioventricular node.	UMLS:C0857265	hp.json	AV nodal tachycardia|Atrioventricular nodal tachycardia	http://purl.obolibrary.org/obo/HP_0011687							
HP:0011688	biolink:PhenotypicFeature	Supraventricular tachycardia with an accessory connection mediated pathway	Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.	UMLS:C4021132	hp.json	Supraventricular tachycardia with an accessory connexion mediated pathway|Atrioventricular re-entry tachycardia	http://purl.obolibrary.org/obo/HP_0011688							
HP:0011689	biolink:PhenotypicFeature	Supraventricular tachycardia with a concealed accessory connection	Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.	UMLS:C4023231	hp.json	Supraventricular tachycardia with a concealed accessory connexion	http://purl.obolibrary.org/obo/HP_0011689							
HP:0011690	biolink:PhenotypicFeature	Permanent junctional reciprocating tachycardia	An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.	SNOMEDCT_US:233904005|UMLS:C0340483	hp.json		http://purl.obolibrary.org/obo/HP_0011690							
HP:0011691	biolink:PhenotypicFeature	Supraventricular tachycardia with a concealed accessory pathway on the left free wall		UMLS:C4023230	hp.json		http://purl.obolibrary.org/obo/HP_0011691							
HP:0011692	biolink:PhenotypicFeature	Supraventricular tachycardia with a concealed accessory pathway on the right free wall		UMLS:C4023229	hp.json		http://purl.obolibrary.org/obo/HP_0011692							
HP:0011693	biolink:PhenotypicFeature	Supraventricular tachycardia with a concealed accessory pathway on the septum		UMLS:C4023228	hp.json		http://purl.obolibrary.org/obo/HP_0011693							
HP:0011694	biolink:PhenotypicFeature	Supraventricular tachycardia with a manifest accessory pathway		UMLS:C4023227	hp.json		http://purl.obolibrary.org/obo/HP_0011694							
HP:0011695	biolink:PhenotypicFeature	Cerebellar hemorrhage	Hemorrhage into the parenchyma of the cerebellum.	SNOMEDCT_US:75038005|UMLS:C0149854	hp.json	Cerebellar haemorrhage	http://purl.obolibrary.org/obo/HP_0011695							
HP:0011696	biolink:PhenotypicFeature	Supraventricular tachycardia with a manifest accessory pathway on the left free wall		UMLS:C4023226	hp.json		http://purl.obolibrary.org/obo/HP_0011696							
HP:0011697	biolink:PhenotypicFeature	Supraventricular tachycardia with a manifest accessory pathway on the right free wall		UMLS:C4023225	hp.json		http://purl.obolibrary.org/obo/HP_0011697							
HP:0011698	biolink:PhenotypicFeature	Supraventricular tachycardia with a manifest accessory pathway on the septum		UMLS:C4023224	hp.json		http://purl.obolibrary.org/obo/HP_0011698							
HP:0011699	biolink:PhenotypicFeature	Atrial reentry tachycardia		UMLS:C4023223	hp.json		http://purl.obolibrary.org/obo/HP_0011699							
HP:0011700	biolink:PhenotypicFeature	Automatic atrial tachycardia	Chronic supraventricular tachycardia predominantly seen in childhood.	MSH:D013612|SNOMEDCT_US:233892002|UMLS:C0039234	hp.json		http://purl.obolibrary.org/obo/HP_0011700							
HP:0011701	biolink:PhenotypicFeature	Multifocal atrial tachycardia	Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.	SNOMEDCT_US:49982000|UMLS:C0221158	hp.json	Chaotic atrial tachycardia|Ectopic atrial tachycardia	http://purl.obolibrary.org/obo/HP_0011701							
HP:0011702	biolink:PhenotypicFeature	Abnormal electrophysiology of sinoatrial node origin	An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.	Fyler:7010|UMLS:C4023222	hp.json		http://purl.obolibrary.org/obo/HP_0011702							
HP:0011703	biolink:PhenotypicFeature	Sinus tachycardia	Heart rate of greater than 100 beats per minute.	MSH:D013616|SNOMEDCT_US:11092001|UMLS:C0039239	hp.json	Sinus tach|Sinus tachy	http://purl.obolibrary.org/obo/HP_0011703							
HP:0011704	biolink:PhenotypicFeature	Sick sinus syndrome	An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.	MSH:D012804|SNOMEDCT_US:36083008|UMLS:C0037052	hp.json	Sinoatrial node disease	http://purl.obolibrary.org/obo/HP_0011704							
HP:0011705	biolink:PhenotypicFeature	First degree atrioventricular block	Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.	SNOMEDCT_US:270492004|UMLS:C0085614	hp.json		http://purl.obolibrary.org/obo/HP_0011705							
HP:0011706	biolink:PhenotypicFeature	Second degree atrioventricular block	An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.	SNOMEDCT_US:195042002|UMLS:C0264906	hp.json		http://purl.obolibrary.org/obo/HP_0011706							
HP:0011707	biolink:PhenotypicFeature	Mobitz I atrioventricular block	Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).	SNOMEDCT_US:54016002|UMLS:C0264907	hp.json	Mobitz type 1 atrioventricular block|Wenckebach block	http://purl.obolibrary.org/obo/HP_0011707							
HP:0011708	biolink:PhenotypicFeature	Mobitz II atrioventricular block	A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.	SNOMEDCT_US:28189009|UMLS:C0155700	hp.json	Mobitz type 2 atrioventricular block	http://purl.obolibrary.org/obo/HP_0011708							
HP:0011709	biolink:PhenotypicFeature	Atrioventricular dissociation	Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.	MSH:D006327|SNOMEDCT_US:50799005|UMLS:C0004331	hp.json		http://purl.obolibrary.org/obo/HP_0011709							
HP:0011710	biolink:PhenotypicFeature	Bundle branch block	Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.	MSH:D002037|SNOMEDCT_US:6374002|UMLS:C0006384	hp.json	Bundle-branch block	http://purl.obolibrary.org/obo/HP_0011710							
HP:0011711	biolink:PhenotypicFeature	Left anterior fascicular block	Conduction block in the anterior division of the left bundle branch of the bundle of His.	SNOMEDCT_US:37760005|UMLS:C0264912	hp.json	Left anterior hemiblock	http://purl.obolibrary.org/obo/HP_0011711							
HP:0011712	biolink:PhenotypicFeature	Right bundle branch block	A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.	MSH:D002037|SNOMEDCT_US:59118001|UMLS:C0085615	hp.json	Right bundle-branch block	http://purl.obolibrary.org/obo/HP_0011712							
HP:0011713	biolink:PhenotypicFeature	Left bundle branch block	A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.	MSH:D002037|SNOMEDCT_US:63467002|UMLS:C0023211	hp.json		http://purl.obolibrary.org/obo/HP_0011713							
HP:0011714	biolink:PhenotypicFeature	Libman-Sacks lesions	Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.	UMLS:C4023221	hp.json		http://purl.obolibrary.org/obo/HP_0011714							
HP:0011715	biolink:PhenotypicFeature	Trifascicular block	Abnormal conduction in all three divisions of the intraventricular conducting tissue.	SNOMEDCT_US:86014007|UMLS:C0155707	hp.json		http://purl.obolibrary.org/obo/HP_0011715							
HP:0011716	biolink:PhenotypicFeature	Junctional ectopic tachycardia	Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.	MSH:D013613|SNOMEDCT_US:233901002|SNOMEDCT_US:419166005|UMLS:C0039235	hp.json		http://purl.obolibrary.org/obo/HP_0011716							
HP:0011717	biolink:PhenotypicFeature	Atrioventricular reentrant tachycardia	Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.	UMLS:C4023220	hp.json	AV nodal reentry tachycardia	http://purl.obolibrary.org/obo/HP_0011717							
HP:0011718	biolink:PhenotypicFeature	Abnormality of the pulmonary veins	An abnormality of the pulmonary veins.	SNOMEDCT_US:111322000|SNOMEDCT_US:128585006|SNOMEDCT_US:199113001|UMLS:C0265914	hp.json	Abnormality of lung veins	http://purl.obolibrary.org/obo/HP_0011718							
HP:0011719	biolink:PhenotypicFeature	Supracardiac total anomalous pulmonary venous connection	Type 1 total anomalous pulmonary venous connection.	Fyler:0910|Fyler:910|UMLS:C4021131	hp.json	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							
HP:0011720	biolink:PhenotypicFeature	Cardiac total anomalous pulmonary venous connection	Type 2 total anomalous pulmonary venous connection.	Fyler:0920|Fyler:0930|Fyler:920|Fyler:930|UMLS:C4021130	hp.json	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							
HP:0011721	biolink:PhenotypicFeature	Infracardiac total anomalous pulmonary venous connection	Type 3 total anomalous pulmonary venous connection.	UMLS:C4021129	hp.json	Infracardiac total anomalous pulmonary venous connexion|Type 3 total anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0011721							
HP:0011722	biolink:PhenotypicFeature	Mixed total anomalous pulmonary venous connection	Type 4 total anomalous pulmonary venous connection.	Fyler:0950|Fyler:950|UMLS:C4021128	hp.json	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							
HP:0011723	biolink:PhenotypicFeature	Congenital malformation of the right heart	Defect or defects of the morphogenesis of the right heart identifiable at birth.	UMLS:C4023219	hp.json		http://purl.obolibrary.org/obo/HP_0011723							
HP:0011724	biolink:PhenotypicFeature	Uhl's anomaly	Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.	MSH:C536932|SNOMEDCT_US:2829000|UMLS:C0265857	hp.json		http://purl.obolibrary.org/obo/HP_0011724							
HP:0011725	biolink:PhenotypicFeature	Chaotic multifocal atrial tachycardia		UMLS:C4023218	hp.json		http://purl.obolibrary.org/obo/HP_0011725							
HP:0011726	biolink:PhenotypicFeature	Persistent fetal circulation	Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.	MSH:D010547|SNOMEDCT_US:206597007|SNOMEDCT_US:233815004|SNOMEDCT_US:35604006|UMLS:C0031190	hp.json	Persistent foetal circulation	http://purl.obolibrary.org/obo/HP_0011726							
HP:0011727	biolink:PhenotypicFeature	Peroneal muscle weakness	Weakness of the peroneal muscles.	UMLS:C0240733	hp.json	Fibularis muscle weakness	http://purl.obolibrary.org/obo/HP_0011727							
HP:0011728	biolink:PhenotypicFeature	Elbow clonus	Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.	UMLS:C4023217	hp.json		http://purl.obolibrary.org/obo/HP_0011728							
HP:0011729	biolink:PhenotypicFeature	Abnormality of joint mobility	An abnormality in the range and ease of motion of joints across their normal range.	UMLS:C4023216	hp.json		http://purl.obolibrary.org/obo/HP_0011729							
HP:0011730	biolink:PhenotypicFeature	Abnormal central sensory function	An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.	UMLS:C4023215	hp.json	Abnormality of central sensory function	http://purl.obolibrary.org/obo/HP_0011730							
HP:0011731	biolink:PhenotypicFeature	Abnormality of circulating cortisol level	An abnormality of the concentration of cortisol in the blood.	UMLS:C4023214	hp.json		http://purl.obolibrary.org/obo/HP_0011731							
HP:0011732	biolink:PhenotypicFeature	Abnormality of adrenal morphology	Any structural anomaly of the adrenal glands.	UMLS:C4023213	hp.json		http://purl.obolibrary.org/obo/HP_0011732							
HP:0011733	biolink:PhenotypicFeature	Abnormality of adrenal physiology	A functional abnormality of the adrenal glands.	UMLS:C4023212	hp.json		http://purl.obolibrary.org/obo/HP_0011733							
HP:0011734	biolink:PhenotypicFeature	Central adrenal insufficiency	A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.	UMLS:C0948387	hp.json	Secondary adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011734							
HP:0011735	biolink:PhenotypicFeature	Adrenocorticotropin deficient adrenal insufficiency	Adrenal insufficiency secondary to a defect in ACTH production.	UMLS:C4023211	hp.json	ACTH deficient adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011735							
HP:0011736	biolink:PhenotypicFeature	Primary hyperaldosteronism	A form of hyperaldosteronism caused by a defect within the adrenal gland.	MSH:D006929|SNOMEDCT_US:190507007|SNOMEDCT_US:258117004|UMLS:C1384514	hp.json		http://purl.obolibrary.org/obo/HP_0011736							
HP:0011737	biolink:PhenotypicFeature	Corticotropin-releasing hormone deficient adrenal insufficiency	Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.	UMLS:C4021127	hp.json	CRH deficient adrenal insufficiency|Tertiary adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011737							
HP:0011738	biolink:PhenotypicFeature	Corticotropin-releasing hormone receptor defect	Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.	UMLS:C4020745|UMLS:C4023210	hp.json	CRHR defect|Corticotropin-releasing hormone receptor (CRHR) resistance	http://purl.obolibrary.org/obo/HP_0011738							
HP:0011739	biolink:PhenotypicFeature	Dexamethasone-suppressible primary hyperaldosteronism	A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.	UMLS:C4020743|UMLS:C4020744|UMLS:C4023209	hp.json	Familial primary hyperaldosteronism type 1|Glucocorticoid-remediable familial primary aldosteronism	http://purl.obolibrary.org/obo/HP_0011739							
HP:0011740	biolink:PhenotypicFeature	Glucocortocoid-insensitive primary hyperaldosteronism	A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.	UMLS:C4020742|UMLS:C4023208	hp.json	Familial primary hyperaldosteronism type 2	http://purl.obolibrary.org/obo/HP_0011740							
HP:0011741	biolink:PhenotypicFeature	Secondary hyperaldosteronism	A form of hyperaldosteronism caused by abnormally increased renin levels.	SNOMEDCT_US:67805000|UMLS:C0271728	hp.json	Hyperreninemic hyperaldosteronism	http://purl.obolibrary.org/obo/HP_0011741							
HP:0011742	biolink:PhenotypicFeature	Ectopic adrenal gland	Abnormal anatomical location of the adrenal gland.	SNOMEDCT_US:49494003|UMLS:C0266275	hp.json	Abnormal adrenal gland position	http://purl.obolibrary.org/obo/HP_0011742							
HP:0011743	biolink:PhenotypicFeature	Adrenal gland agenesis	Absent development of the adrenal gland.	MSH:C538429|SNOMEDCT_US:702615004|SNOMEDCT_US:83190008|UMLS:C0266273	hp.json		http://purl.obolibrary.org/obo/HP_0011743							
HP:0011744	biolink:PhenotypicFeature	Secondary hypercortisolism	Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.	UMLS:C4020741|UMLS:C4023207	hp.json	ACTH-dependent hypercortisolemia	http://purl.obolibrary.org/obo/HP_0011744							
HP:0011745	biolink:PhenotypicFeature	Non-secretory adrenocortical adenoma	An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.	UMLS:C4021126	hp.json	Non-secretory adrenal adenoma	http://purl.obolibrary.org/obo/HP_0011745							
HP:0011746	biolink:PhenotypicFeature	Secretory adrenocortical adenoma	An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.	UMLS:C4021125	hp.json	Secretory adrenal adenoma	http://purl.obolibrary.org/obo/HP_0011746							
HP:0011747	biolink:PhenotypicFeature	Abnormality of the anterior pituitary	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002|UMLS:C4023206	hp.json	Pituitary disease	http://purl.obolibrary.org/obo/HP_0011747							
HP:0011748	biolink:PhenotypicFeature	Adrenocorticotropic hormone deficiency	A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.	MSH:C535668|SNOMEDCT_US:237692001|UMLS:C0342388	hp.json	ACTH deficiency|Corticotropin deficiency	http://purl.obolibrary.org/obo/HP_0011748							
HP:0011749	biolink:PhenotypicFeature	Adrenocorticotropic hormone excess	Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.	UMLS:C4021124	hp.json	ACTH excess	http://purl.obolibrary.org/obo/HP_0011749							
HP:0011750	biolink:PhenotypicFeature	Neoplasm of the anterior pituitary	A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	NCIT:C3262|UMLS:C4023205	hp.json	Neoplasm of the adenohypophysis|Neoplasm of the pars anterior	http://purl.obolibrary.org/obo/HP_0011750							
HP:0011751	biolink:PhenotypicFeature	Abnormality of the posterior pituitary	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.	UMLS:C4023204	hp.json	Abnormality of the neurohypophysis	http://purl.obolibrary.org/obo/HP_0011751							
HP:0011752	biolink:PhenotypicFeature	Neoplasm of the posterior pituitary	The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.	NCIT:C3262|UMLS:C1334957	hp.json	Neoplasm of the neurohypophysis	http://purl.obolibrary.org/obo/HP_0011752							
HP:0011753	biolink:PhenotypicFeature	Posterior pituitary dysgenesis	Abnormal development of the neurohypophysis during embryonic growth and development.	UMLS:C4021123	hp.json	Neurohypophysis dysplasia|Posterior pituitary dysplasia	http://purl.obolibrary.org/obo/HP_0011753							
HP:0011754	biolink:PhenotypicFeature	Pituicytoma	A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.	ICD-O:9432/1|SNOMEDCT_US:450901008|SNOMEDCT_US:608817003|UMLS:C2986550	hp.json		http://purl.obolibrary.org/obo/HP_0011754							
HP:0011755	biolink:PhenotypicFeature	Ectopic posterior pituitary	An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.	SNOMEDCT_US:715727009|UMLS:C3279571|UMLS:C4053775	hp.json	Ectopic neurohypophysis	http://purl.obolibrary.org/obo/HP_0011755							
HP:0011756	biolink:PhenotypicFeature	Posterior pituitary agenesis	Absence of the neurohypophysis owing to a developmental defect.	UMLS:C4023203	hp.json	Neurohypophysis agenesis	http://purl.obolibrary.org/obo/HP_0011756							
HP:0011757	biolink:PhenotypicFeature	Posterior pituitary hypoplasia	Underdevelopment of the neurohypophysis.	UMLS:C4023202	hp.json	Neurohypophysis hypoplasia	http://purl.obolibrary.org/obo/HP_0011757							
HP:0011758	biolink:PhenotypicFeature	Pituitary acidophilic stem cell adenoma		UMLS:C4023201	hp.json		http://purl.obolibrary.org/obo/HP_0011758							
HP:0011759	biolink:PhenotypicFeature	Pituitary gonadotropic cell adenoma	A type of pituitary adenoma that produces gonadotropins.	UMLS:C4021122	hp.json	Pituitary gonadotropinoma	http://purl.obolibrary.org/obo/HP_0011759							
HP:0011760	biolink:PhenotypicFeature	Pituitary growth hormone cell adenoma	A type of pituitary adenoma that produces growth hormone.	UMLS:C4018860	hp.json	Pituitary somatotropinoma	http://purl.obolibrary.org/obo/HP_0011760							
HP:0011761	biolink:PhenotypicFeature	Pituitary null cell adenoma	A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.	SNOMEDCT_US:254962005|UMLS:C0338078	hp.json	Clinically silent pituitary adenoma|Hormonally silent pituitary adenoma|Non-functional pituitary adenoma|Silent pituitary adenoma	http://purl.obolibrary.org/obo/HP_0011761							
HP:0011762	biolink:PhenotypicFeature	Pituitary thyrotropic cell adenoma	A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).	UMLS:C4021121	hp.json	Pituitary thyrotropinoma	http://purl.obolibrary.org/obo/HP_0011762							
HP:0011763	biolink:PhenotypicFeature	Pituitary carcinoma	A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.	MSH:D010911|SNOMEDCT_US:128665000|SNOMEDCT_US:254955001|UMLS:C0346300	hp.json		http://purl.obolibrary.org/obo/HP_0011763							
HP:0011764	biolink:PhenotypicFeature	Pituitary spindle cell oncocytoma	A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.	UMLS:C4023200	hp.json		http://purl.obolibrary.org/obo/HP_0011764							
HP:0011765	biolink:PhenotypicFeature	obsolete Ectopic anterior pituitary			hp.json		http://purl.obolibrary.org/obo/HP_0011765							
HP:0011766	biolink:PhenotypicFeature	Abnormality of the parathyroid morphology	A structural abnormality of the parathyroid gland.	UMLS:C4023199	hp.json		http://purl.obolibrary.org/obo/HP_0011766							
HP:0011767	biolink:PhenotypicFeature	Abnormality of the parathyroid physiology	A functional abnormality of the parathyroid gland.	UMLS:C4023198	hp.json	Parathyroid issue|Parathyroid dysfunction	http://purl.obolibrary.org/obo/HP_0011767							
HP:0011768	biolink:PhenotypicFeature	Parathyroid dysgenesis	Abnormal embryonic development of the parathyroid gland.	UMLS:C4023197	hp.json		http://purl.obolibrary.org/obo/HP_0011768							
HP:0011769	biolink:PhenotypicFeature	Ectopic parathyroid	An abnormal anatomical location of the parathyroid gland.	UMLS:C4023196	hp.json		http://purl.obolibrary.org/obo/HP_0011769							
HP:0011770	biolink:PhenotypicFeature	Tertiary hyperparathyroidism	A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.	SNOMEDCT_US:78200003|UMLS:C0271858	hp.json		http://purl.obolibrary.org/obo/HP_0011770							
HP:0011771	biolink:PhenotypicFeature	Autoimmune hypoparathyroidism	A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.	SNOMEDCT_US:75316000|UMLS:C0271865	hp.json		http://purl.obolibrary.org/obo/HP_0011771							
HP:0011772	biolink:PhenotypicFeature	Abnormal thyroid morphology	A structural abnormality of the thyroid gland.	UMLS:C4023195	hp.json	Abnormal shape of thyroid gland|Abnormality of thyroid morphology	http://purl.obolibrary.org/obo/HP_0011772							
HP:0011773	biolink:PhenotypicFeature	Uninodular goiter	Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.	SNOMEDCT_US:237569006|UMLS:C0342205	hp.json	Uninodular goitre	http://purl.obolibrary.org/obo/HP_0011773							
HP:0011774	biolink:PhenotypicFeature	Thyroid follicular adenoma		MSH:D013964|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|UMLS:C0151468	hp.json		http://purl.obolibrary.org/obo/HP_0011774							
HP:0011775	biolink:PhenotypicFeature	Thyroid macrofollicular adenoma		UMLS:C4023194	hp.json		http://purl.obolibrary.org/obo/HP_0011775							
HP:0011776	biolink:PhenotypicFeature	Thyroid microfollicular adenoma		UMLS:C4023193	hp.json		http://purl.obolibrary.org/obo/HP_0011776							
HP:0011777	biolink:PhenotypicFeature	Thyroid papillary adenoma		UMLS:C4023192	hp.json		http://purl.obolibrary.org/obo/HP_0011777							
HP:0011778	biolink:PhenotypicFeature	Thyroid atypical adenoma		UMLS:C4023191	hp.json		http://purl.obolibrary.org/obo/HP_0011778							
HP:0011779	biolink:PhenotypicFeature	Anaplastic thyroid carcinoma		MSH:D065646|SNOMEDCT_US:255031003|UMLS:C0238461	hp.json		http://purl.obolibrary.org/obo/HP_0011779							
HP:0011780	biolink:PhenotypicFeature	Thyroid hemiagenesis	Absence of a lobe of the thyroid gland related to a failure of its embryologic development.	SNOMEDCT_US:715734006|UMLS:C4023190	hp.json		http://purl.obolibrary.org/obo/HP_0011780							
HP:0011781	biolink:PhenotypicFeature	Thyroid C cell hyperplasia	An abnormal growth of parafollicular (C-cells) cells.	SNOMEDCT_US:237552009|UMLS:C0342190	hp.json		http://purl.obolibrary.org/obo/HP_0011781							
HP:0011782	biolink:PhenotypicFeature	Thyroid crisis		MSH:D013958|SNOMEDCT_US:29028009|UMLS:C0040127	hp.json		http://purl.obolibrary.org/obo/HP_0011782							
HP:0011783	biolink:PhenotypicFeature	Thyrotoxicosis from ectopic thyroid tissue		SNOMEDCT_US:87232008|UMLS:C0154148	hp.json		http://purl.obolibrary.org/obo/HP_0011783							
HP:0011784	biolink:PhenotypicFeature	Thyrotoxicosis with diffuse goiter		SNOMEDCT_US:267374005|UMLS:C0342122	hp.json	Thyrotoxicosis with diffuse goitre	http://purl.obolibrary.org/obo/HP_0011784							
HP:0011785	biolink:PhenotypicFeature	Thyrotoxicosis with toxic multinodular goiter		SNOMEDCT_US:26389007|UMLS:C0154143	hp.json	Thyrotoxicosis with toxic multinodular goitre	http://purl.obolibrary.org/obo/HP_0011785							
HP:0011786	biolink:PhenotypicFeature	Thyrotoxicosis with toxic single thyroid nodule		SNOMEDCT_US:69329005|SNOMEDCT_US:73869005|UMLS:C0154141	hp.json		http://purl.obolibrary.org/obo/HP_0011786							
HP:0011787	biolink:PhenotypicFeature	Central hypothyroidism	A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.	SNOMEDCT_US:26692000|UMLS:C0271801	hp.json		http://purl.obolibrary.org/obo/HP_0011787							
HP:0011788	biolink:PhenotypicFeature	Increased circulating free T3	An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.	UMLS:C4021843	hp.json	Increased serum fT3|Increased circulating free triiodothyronine|Increased serum free T3|Increased serum free triiodothyronine	http://purl.obolibrary.org/obo/HP_0011788							
HP:0011789	biolink:PhenotypicFeature	Impaired sensitivity to thyroid stimulating hormone	Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).	UMLS:C4023189	hp.json	TSHR defect|Thyroid-stimulating hormone receptor defect	http://purl.obolibrary.org/obo/HP_0011789							
HP:0011790	biolink:PhenotypicFeature	Activating thyroid-stimulating hormone receptor defect	Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.	UMLS:C4023188	hp.json	Activating TSHR defect	http://purl.obolibrary.org/obo/HP_0011790							
HP:0011791	biolink:PhenotypicFeature	Inactivating thyroid-stimulating hormone receptor defect	Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.	UMLS:C4023187	hp.json	Inactivating TSHR defect	http://purl.obolibrary.org/obo/HP_0011791							
HP:0011792	biolink:PhenotypicFeature	Neoplasm by histology	Neoplasm categorized according to type of histological abnormality.	UMLS:C4023186	hp.json		http://purl.obolibrary.org/obo/HP_0011792							
HP:0011793	biolink:PhenotypicFeature	Neoplasm by anatomical site	Neoplasm categorized according to the anatomical site of origin of the neoplasm.	UMLS:C4023185	hp.json		http://purl.obolibrary.org/obo/HP_0011793							
HP:0011794	biolink:PhenotypicFeature	Embryonal renal neoplasm	The presence of an embryonal neoplasm of the kidney that primarily affects children.	UMLS:C4023184	hp.json		http://purl.obolibrary.org/obo/HP_0011794							
HP:0011795	biolink:PhenotypicFeature	Intralobar nephroblastomatosis	Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).	SNOMEDCT_US:405934001|UMLS:C1319016	hp.json		http://purl.obolibrary.org/obo/HP_0011795							
HP:0011796	biolink:PhenotypicFeature	Perilobar nephroblastomatosis	Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).	SNOMEDCT_US:405935000|UMLS:C1319017	hp.json		http://purl.obolibrary.org/obo/HP_0011796							
HP:0011797	biolink:PhenotypicFeature	Papillary renal cell carcinoma type 1	A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.	UMLS:C1336839	hp.json		http://purl.obolibrary.org/obo/HP_0011797							
HP:0011798	biolink:PhenotypicFeature	Renal oncocytoma	A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.	MSH:C537750|SNOMEDCT_US:254922006|UMLS:C0346255	hp.json		http://purl.obolibrary.org/obo/HP_0011798							
HP:0011799	biolink:PhenotypicFeature	Abnormality of facial soft tissue		UMLS:C4023183	hp.json	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	biolink:PhenotypicFeature	Midface retrusion	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.	UMLS:C1853242|UMLS:C2673410|UMLS:C4280320|UMLS:C4280321	hp.json	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							hposlim_core
HP:0011801	biolink:PhenotypicFeature	Enlargement of parotid gland	Increased size of the parotid gland.	SNOMEDCT_US:29748005|UMLS:C0341047	hp.json	Hyperplasia of parotid gland|Increased size of parotid gland|Hypertrophy of parotid gland	http://purl.obolibrary.org/obo/HP_0011801							
HP:0011802	biolink:PhenotypicFeature	Hamartoma of tongue	A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.	SNOMEDCT_US:253753005|UMLS:C0431565	hp.json	Lingual hamartoma	http://purl.obolibrary.org/obo/HP_0011802							
HP:0011803	biolink:PhenotypicFeature	Bifid nose	Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.	MSH:C535441|SNOMEDCT_US:204521002|UMLS:C0221363|UMLS:C4280318|UMLS:C4280319	hp.json	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							hposlim_core
HP:0011804	biolink:PhenotypicFeature	Abnormal muscle physiology	A functional abnormality of a skeletal muscle.	UMLS:C4023182	hp.json	Issue with muscle function|Abnormality of muscle physiology	http://purl.obolibrary.org/obo/HP_0011804							
HP:0011805	biolink:PhenotypicFeature	Abnormal skeletal muscle morphology	A structural abnormality of a skeletal muscle.	UMLS:C4023181	hp.json	Abnormally shaped muscle|Issue with muscle structure|Abnormal muscle morphology|Abnormality of muscle morphology	http://purl.obolibrary.org/obo/HP_0011805							
HP:0011807	biolink:PhenotypicFeature	Type 1 muscle fiber atrophy	Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.	UMLS:C4023180	hp.json	Type 1 muscle fibre atrophy	http://purl.obolibrary.org/obo/HP_0011807							
HP:0011808	biolink:PhenotypicFeature	Decreased patellar reflex	Decreased intensity of the patellar reflex (also known as the knee jerk reflex).	UMLS:C3277184	hp.json	Decreased knee jerk reflex|Decreased patellar reflexes	http://purl.obolibrary.org/obo/HP_0011808							
HP:0011809	biolink:PhenotypicFeature	Paradoxical myotonia	A type of myotonia that worsens with repeated muscle contractions.	UMLS:C4023179	hp.json		http://purl.obolibrary.org/obo/HP_0011809							
HP:0011810	biolink:PhenotypicFeature	Impaired two-point discrimination	A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.	UMLS:C4023178	hp.json		http://purl.obolibrary.org/obo/HP_0011810							
HP:0011811	biolink:PhenotypicFeature	Impaired touch localization	A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.	UMLS:C4021120	hp.json	Impaired touch localisation|Impaired topognosis	http://purl.obolibrary.org/obo/HP_0011811							
HP:0011812	biolink:PhenotypicFeature	Agraphesthesia	Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).	UMLS:C1328618	hp.json		http://purl.obolibrary.org/obo/HP_0011812							
HP:0011813	biolink:PhenotypicFeature	Increased cerebral lipofuscin	Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.	UMLS:C4023177	hp.json		http://purl.obolibrary.org/obo/HP_0011813							
HP:0011814	biolink:PhenotypicFeature	Increased urinary hypoxanthine	An increased level of hypoxanthine in the urine.	UMLS:C3810487	hp.json		http://purl.obolibrary.org/obo/HP_0011814							
HP:0011815	biolink:PhenotypicFeature	Cephalocele	A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.	MSH:D004677|SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|SNOMEDCT_US:55999004|UMLS:C0014065	hp.json		http://purl.obolibrary.org/obo/HP_0011815							
HP:0011816	biolink:PhenotypicFeature	Parietal encephalocele	An encephalocele located between bregma and lambda.	SNOMEDCT_US:253109005|UMLS:C0431294	hp.json		http://purl.obolibrary.org/obo/HP_0011816							
HP:0011817	biolink:PhenotypicFeature	Basal encephalocele	Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.	UMLS:C4023176	hp.json		http://purl.obolibrary.org/obo/HP_0011817							
HP:0011818	biolink:PhenotypicFeature	Nasofrontal encephalocele		SNOMEDCT_US:253106003|UMLS:C0431291	hp.json	Naso-frontal encephalocele	http://purl.obolibrary.org/obo/HP_0011818							
HP:0011819	biolink:PhenotypicFeature	Submucous cleft soft palate	A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.	UMLS:C4023175	hp.json	Partial thickness cleft soft palate|Submucous cleft velum	http://purl.obolibrary.org/obo/HP_0011819							hposlim_core
HP:0011820	biolink:PhenotypicFeature	Membranous choanal atresia	Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.	UMLS:C4023174	hp.json		http://purl.obolibrary.org/obo/HP_0011820							
HP:0011821	biolink:PhenotypicFeature	Abnormality of facial skeleton	An abnormality of one or more of the set of bones that make up the facial skeleton.	SNOMEDCT_US:433096001|UMLS:C2315229	hp.json	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							
HP:0011822	biolink:PhenotypicFeature	Broad chin	Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.	UMLS:C4023172	hp.json	Broad chin|Increased width of chin|Wide chin|Increased width of menton region	http://purl.obolibrary.org/obo/HP_0011822							hposlim_core
HP:0011823	biolink:PhenotypicFeature	Chin with horizontal crease	Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.	UMLS:C4023171	hp.json	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							
HP:0011824	biolink:PhenotypicFeature	Chin with H-shaped crease	H-shaped crease in the fat pad of the chin.	UMLS:C1860309	hp.json	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							
HP:0011825	biolink:PhenotypicFeature	Tented philtrum	Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.	UMLS:C4021119	hp.json	Philtrum, Tented	http://purl.obolibrary.org/obo/HP_0011825							hposlim_core
HP:0011826	biolink:PhenotypicFeature	Philtrum with midline raphe	Narrow ridge in the midline of the philtral groove.	UMLS:C4021118	hp.json	Philtrum with central raphe|Philtrum with midline ridge|Philtrum, midline raphe	http://purl.obolibrary.org/obo/HP_0011826							hposlim_core
HP:0011827	biolink:PhenotypicFeature	Malaligned philtral ridges	Absence of the usual parallel position of philtral ridges.	UMLS:C4021117	hp.json	Asymmetric philtral columns|Asymmetric philtral ridges|Malaligned philtral columns|Philtral Ridges, Malaligned	http://purl.obolibrary.org/obo/HP_0011827							hposlim_core
HP:0011828	biolink:PhenotypicFeature	Midline sinus of philtrum	Pit in the midline of the philtral groove.	UMLS:C4021116	hp.json	Central sinus of philtrum|Philtrum, Midline Sinus	http://purl.obolibrary.org/obo/HP_0011828							hposlim_core
HP:0011829	biolink:PhenotypicFeature	Narrow philtrum	Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.	UMLS:C4021115	hp.json	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							hposlim_core
HP:0011830	biolink:PhenotypicFeature	Abnormal oral mucosa morphology	Abnormality of the oral mucosa.	UMLS:C4023170	hp.json	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							hposlim_core
HP:0011831	biolink:PhenotypicFeature	Deviated nasal tip	Nasal tip positioned to one side of the midline.	UMLS:C4021114|UMLS:C4280271	hp.json	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							
HP:0011832	biolink:PhenotypicFeature	Narrow nasal tip	Decrease in width of the nasal tip.	SNOMEDCT_US:249331008|UMLS:C0426433	hp.json	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							hposlim_core
HP:0011833	biolink:PhenotypicFeature	Overhanging nasal tip	Positioning of the nasal tip inferior to the nasal base.	SNOMEDCT_US:249328007|UMLS:C0426430	hp.json	Drooping nasal tip|Hooked tip of nose|Low hanging nasal tip|Nasal tip, overhanging|Overhanging nasal tip	http://purl.obolibrary.org/obo/HP_0011833							hposlim_core
HP:0011834	biolink:PhenotypicFeature	Moyamoya phenomenon	A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.	UMLS:C4023169	hp.json		http://purl.obolibrary.org/obo/HP_0011834							
HP:0011835	biolink:PhenotypicFeature	Absent scaphoid	Congenital absence of the scaphoid..	UMLS:C1847189	hp.json	Missing scaphoid bone|Absent scaphoid bone	http://purl.obolibrary.org/obo/HP_0011835							
HP:0011836	biolink:PhenotypicFeature	Delayed talus ossification	Delayed maturation and calcification of the talus.	UMLS:C4023168	hp.json		http://purl.obolibrary.org/obo/HP_0011836							
HP:0011837	biolink:PhenotypicFeature	Partial IgA deficiency	Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.	UMLS:C4023167	hp.json		http://purl.obolibrary.org/obo/HP_0011837							
HP:0011838	biolink:PhenotypicFeature	Sclerodactyly	Localized thickening and tightness of the skin of the fingers or toes.	ICD-10:L94.3|SNOMEDCT_US:201051000|SNOMEDCT_US:298285004|UMLS:C0150988	hp.json		http://purl.obolibrary.org/obo/HP_0011838							
HP:0011839	biolink:PhenotypicFeature	Abnormal T cell count	A deviation from the normal count of T cells.	UMLS:C4021113	hp.json	Abnormal number of T cells|Abnormality of T cell number	http://purl.obolibrary.org/obo/HP_0011839							
HP:0011840	biolink:PhenotypicFeature	Abnormality of T cell physiology	A functional anomaly of T cells.	UMLS:C4023166	hp.json		http://purl.obolibrary.org/obo/HP_0011840							
HP:0011841	biolink:PhenotypicFeature	Ventricular flutter	A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.	MSH:D054141|SNOMEDCT_US:111288001|UMLS:C0152173	hp.json		http://purl.obolibrary.org/obo/HP_0011841							
HP:0011842	biolink:PhenotypicFeature	Abnormality of skeletal morphology	An abnormality of the form, structure, or size of the skeletal system.	UMLS:C4023165	hp.json	Abnormally shaped skeletal	http://purl.obolibrary.org/obo/HP_0011842							
HP:0011843	biolink:PhenotypicFeature	Abnormality of musculoskeletal physiology	An abnormality of the function of the skeletal system.	UMLS:C4023164	hp.json		http://purl.obolibrary.org/obo/HP_0011843							
HP:0011844	biolink:PhenotypicFeature	Abnormal appendicular skeleton morphology	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.	UMLS:C4023163	hp.json		http://purl.obolibrary.org/obo/HP_0011844							
HP:0011845	biolink:PhenotypicFeature	Short second metatarsal	Short (hypoplastic) second metatarsal bone.	UMLS:C4023162	hp.json	Short 2nd long bone of foot	http://purl.obolibrary.org/obo/HP_0011845							
HP:0011846	biolink:PhenotypicFeature	Osteoblastoma	A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.	MSH:D018215|SNOMEDCT_US:55333008|UMLS:C0029417	hp.json		http://purl.obolibrary.org/obo/HP_0011846							
HP:0011847	biolink:PhenotypicFeature	Giant cell tumor of bone	A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.	MSH:D018212|SNOMEDCT_US:57500000|SNOMEDCT_US:697970009|UMLS:C0206638	hp.json	Giant cell tumour of bone	http://purl.obolibrary.org/obo/HP_0011847							
HP:0011848	biolink:PhenotypicFeature	Abdominal colic	A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.	MSH:D003085|SNOMEDCT_US:9991008|UMLS:C0232488	hp.json		http://purl.obolibrary.org/obo/HP_0011848							
HP:0011849	biolink:PhenotypicFeature	Abnormal bone ossification	Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	MP:0008271|UMLS:C4023161|UMLS:C4280317	hp.json	Abnormal bone maturation	http://purl.obolibrary.org/obo/HP_0011849							
HP:0011850	biolink:PhenotypicFeature	Parotitis	Inflammation of the parotid gland.	MSH:D010309|SNOMEDCT_US:14756005|UMLS:C0030583	hp.json		http://purl.obolibrary.org/obo/HP_0011850							
HP:0011851	biolink:PhenotypicFeature	Hemopericardium	Accumulation of blood within the pericardial sac.	MSH:D010490|SNOMEDCT_US:23412002|UMLS:C0019064	hp.json		http://purl.obolibrary.org/obo/HP_0011851							
HP:0011852	biolink:PhenotypicFeature	Chylopericardium	Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.	MSH:D010490|SNOMEDCT_US:233890005|UMLS:C0242426	hp.json		http://purl.obolibrary.org/obo/HP_0011852							
HP:0011853	biolink:PhenotypicFeature	Serous pericardial effusion	Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.	UMLS:C4023160	hp.json		http://purl.obolibrary.org/obo/HP_0011853							
HP:0011854	biolink:PhenotypicFeature	Hemoperitoneum	Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.	MSH:D006465|SNOMEDCT_US:443826006|SNOMEDCT_US:45626005|UMLS:C0019065|UMLS:C0744735	hp.json	Hematoperitoneum	http://purl.obolibrary.org/obo/HP_0011854							
HP:0011855	biolink:PhenotypicFeature	Pharyngeal edema	Abnormal accumulation of fluid leading to swelling of the pharynx.	SNOMEDCT_US:2129002|UMLS:C0236024	hp.json	Throat swelling|Pharyngeal oedema|Swollen throat	http://purl.obolibrary.org/obo/HP_0011855							
HP:0011856	biolink:PhenotypicFeature	Pica	An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.	MSH:D010842|SNOMEDCT_US:14077003|UMLS:C0031873	hp.json		http://purl.obolibrary.org/obo/HP_0011856							
HP:0011857	biolink:PhenotypicFeature	Plasmacytoma	A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.	MSH:D010954|SNOMEDCT_US:10639003|SNOMEDCT_US:415112005|UMLS:C0032131	hp.json		http://purl.obolibrary.org/obo/HP_0011857							
HP:0011858	biolink:PhenotypicFeature	Reduced factor IX activity	Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.	UMLS:C4023159	hp.json	Low factor IX activity	http://purl.obolibrary.org/obo/HP_0011858							
HP:0011859	biolink:PhenotypicFeature	Punctate keratitis	A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.	SNOMEDCT_US:416300008|UMLS:C1562761	hp.json		http://purl.obolibrary.org/obo/HP_0011859							
HP:0011860	biolink:PhenotypicFeature	Metaphyseal dappling	The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.	UMLS:C4020907	hp.json	Dappled metaphyseal sclerosis	http://purl.obolibrary.org/obo/HP_0011860							
HP:0011861	biolink:PhenotypicFeature	Bilateral trilobed lungs	Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.	SNOMEDCT_US:448648001|UMLS:C3164377	hp.json		http://purl.obolibrary.org/obo/HP_0011861							
HP:0011862	biolink:PhenotypicFeature	Abnormal bone collagen fibril morphology	Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.	UMLS:C4023158	hp.json		http://purl.obolibrary.org/obo/HP_0011862							
HP:0011863	biolink:PhenotypicFeature	Abnormal sternal ossification	Any anomaly in the formation of the bony substance of the sternum.	UMLS:C1860243	hp.json	Abnormal maturation of breastbone|Sternal ossification centre abnormalities|Sternal ossification center abnormalities	http://purl.obolibrary.org/obo/HP_0011863							
HP:0011864	biolink:PhenotypicFeature	Elevated plasma pyrophosphate	An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.	UMLS:C4023157	hp.json		http://purl.obolibrary.org/obo/HP_0011864							
HP:0011867	biolink:PhenotypicFeature	Abnormal iliac wing morphology	An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.	UMLS:C4023156	hp.json	Abnormality of the wing of the ilium	http://purl.obolibrary.org/obo/HP_0011867							
HP:0011868	biolink:PhenotypicFeature	Sciatica	Pain in the lower back and hip radiating in the distribution of the sciatic nerve.	MSH:D012585|SNOMEDCT_US:23056005|UMLS:C0036396	hp.json		http://purl.obolibrary.org/obo/HP_0011868							
HP:0011869	biolink:PhenotypicFeature	Abnormal platelet function	Any anomaly in the function of thrombocytes.	UMLS:C0855740	hp.json		http://purl.obolibrary.org/obo/HP_0011869							
HP:0011870	biolink:PhenotypicFeature	Impaired arachidonic acid-induced platelet aggregation	Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.	UMLS:C4023155	hp.json		http://purl.obolibrary.org/obo/HP_0011870							
HP:0011871	biolink:PhenotypicFeature	Impaired ristocetin-induced platelet aggregation	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.	UMLS:C4023154	hp.json		http://purl.obolibrary.org/obo/HP_0011871							
HP:0011872	biolink:PhenotypicFeature	Impaired thrombin-induced platelet aggregation	Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).	UMLS:C4023153	hp.json		http://purl.obolibrary.org/obo/HP_0011872							
HP:0011873	biolink:PhenotypicFeature	Abnormal platelet count	Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.	SNOMEDCT_US:165558001|UMLS:C0580317	hp.json		http://purl.obolibrary.org/obo/HP_0011873							
HP:0011874	biolink:PhenotypicFeature	Heparin-induced thrombocytopenia	Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.	SNOMEDCT_US:73397007|UMLS:C0272285	hp.json		http://purl.obolibrary.org/obo/HP_0011874							
HP:0011875	biolink:PhenotypicFeature	Abnormal platelet morphology	An anomaly in platelet form, ultrastructure, or intracellular organelles.	UMLS:C0855742	hp.json	Abnormal shape of platelets	http://purl.obolibrary.org/obo/HP_0011875							
HP:0011876	biolink:PhenotypicFeature	Abnormal platelet volume	Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.	UMLS:C4023152	hp.json		http://purl.obolibrary.org/obo/HP_0011876							
HP:0011877	biolink:PhenotypicFeature	Increased mean platelet volume	Average platelet volume above the upper limit of the normal reference interval.	UMLS:C1096367	hp.json	Large platelets	http://purl.obolibrary.org/obo/HP_0011877							
HP:0011878	biolink:PhenotypicFeature	Abnormal platelet membrane protein expression	Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.	UMLS:C4023151	hp.json		http://purl.obolibrary.org/obo/HP_0011878							
HP:0011879	biolink:PhenotypicFeature	Decreased platelet glycoprotein Ib-IX-V	Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.	UMLS:C4023150	hp.json		http://purl.obolibrary.org/obo/HP_0011879							
HP:0011880	biolink:PhenotypicFeature	Acute disseminated intravascular coagulation	An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.	UMLS:C4023149	hp.json		http://purl.obolibrary.org/obo/HP_0011880							
HP:0011881	biolink:PhenotypicFeature	Decreased platelet glycoprotein VI	Decreased cell membrane concentration of glycoprotein VI.	UMLS:C4023148	hp.json		http://purl.obolibrary.org/obo/HP_0011881							
HP:0011882	biolink:PhenotypicFeature	Decreased platelet P2Y12 receptor	Decreased cell membrane concentration of P2Y12 receptor.	UMLS:C4023147	hp.json		http://purl.obolibrary.org/obo/HP_0011882							
HP:0011883	biolink:PhenotypicFeature	Abnormal platelet granules	An anomaly of alpha or dense granules or platelet lysosomes.	UMLS:C4023146	hp.json		http://purl.obolibrary.org/obo/HP_0011883							
HP:0011884	biolink:PhenotypicFeature	Abnormal umbilical stump bleeding	Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.	UMLS:C4023145	hp.json		http://purl.obolibrary.org/obo/HP_0011884							
HP:0011885	biolink:PhenotypicFeature	Hemorrhage of the eye	Bleeding from vessels of the various tissues of the eye.	MSH:D005130|SNOMEDCT_US:417244000|SNOMEDCT_US:93478000|UMLS:C0015402	hp.json	Bleeding from the eye|Haemorrhage of the eye	http://purl.obolibrary.org/obo/HP_0011885							
HP:0011886	biolink:PhenotypicFeature	Hyphema	Bleeding in the anterior chamber of the eye.	MSH:D006988|SNOMEDCT_US:75229002|UMLS:C0020581	hp.json		http://purl.obolibrary.org/obo/HP_0011886							
HP:0011887	biolink:PhenotypicFeature	Choroid hemorrhage	Hemorrhage from the vessels of the choroid.	MSH:D002832|SNOMEDCT_US:122003|UMLS:C0008522	hp.json	Choroid haemorrhage|Choroidal haemorrhage|Choroidal hemorrhage	http://purl.obolibrary.org/obo/HP_0011887							
HP:0011888	biolink:PhenotypicFeature	Bleeding requiring red cell transfusion	Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).	UMLS:C4023144	hp.json	Bleeding requiring red cell transfusion	http://purl.obolibrary.org/obo/HP_0011888							
HP:0011889	biolink:PhenotypicFeature	Bleeding with minor or no trauma	Significant bleeding or hemorrhage without significant precipitating factor.	UMLS:C4023143	hp.json	Bleeding with minor or no trauma|Easy bleeding	http://purl.obolibrary.org/obo/HP_0011889							
HP:0011890	biolink:PhenotypicFeature	Prolonged bleeding following procedure	Prolonged or protracted bleeding following an invasive procedure or intervention.	UMLS:C4023142	hp.json	Prolonged bleeding following procedure	http://purl.obolibrary.org/obo/HP_0011890							
HP:0011891	biolink:PhenotypicFeature	Post-partum hemorrhage	Significant maternal haemorrhage/blood loss following deilvery of a child.	MSH:D006473|SNOMEDCT_US:47821001|UMLS:C0032797	hp.json	Bleeding post-delivery|Post-partum haemorrhage	http://purl.obolibrary.org/obo/HP_0011891							
HP:0011892	biolink:PhenotypicFeature	Low levels of vitamin K	A reduced concentration of vitamin K.	MSH:D014813|SNOMEDCT_US:52675005|UMLS:C0042880	hp.json		http://purl.obolibrary.org/obo/HP_0011892							
HP:0011893	biolink:PhenotypicFeature	Abnormal leukocyte count	Number of leukocytes per volume of blood beyond normal limits.	SNOMEDCT_US:165509000|UMLS:C0580531	hp.json	Abnormal white blood cell count	http://purl.obolibrary.org/obo/HP_0011893							
HP:0011894	biolink:PhenotypicFeature	Impaired thromboxane A2 agonist-induced platelet aggregation	Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.	UMLS:C4023141	hp.json		http://purl.obolibrary.org/obo/HP_0011894							
HP:0011895	biolink:PhenotypicFeature	Anemia due to reduced life span of red cells	A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.	UMLS:C4021112	hp.json	Anaemia due to reduced life span of red cells	http://purl.obolibrary.org/obo/HP_0011895							
HP:0011896	biolink:PhenotypicFeature	Subconjunctival hemorrhage	Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.	SNOMEDCT_US:78768009|UMLS:C0038534	hp.json	Subconjunctival haemorrhage	http://purl.obolibrary.org/obo/HP_0011896							
HP:0011897	biolink:PhenotypicFeature	Neutrophilia	Increased number of neutrophils circulating in blood.	UMLS:C4023140	hp.json	Increased blood neutrophil counts	http://purl.obolibrary.org/obo/HP_0011897							
HP:0011898	biolink:PhenotypicFeature	Abnormality of circulating fibrinogen	An abnormality of the level of activity of circulating fibrinogen.	UMLS:C4023139	hp.json		http://purl.obolibrary.org/obo/HP_0011898							
HP:0011899	biolink:PhenotypicFeature	Hyperfibrinogenemia	Increased concentration of fibrinogen in the blood.	SNOMEDCT_US:439000005|UMLS:C0919890	hp.json		http://purl.obolibrary.org/obo/HP_0011899							
HP:0011900	biolink:PhenotypicFeature	Hypofibrinogenemia	Decreased concentration of fibrinogen in the blood.	SNOMEDCT_US:234457009|UMLS:C0553681	hp.json	Low fibrinogen activity|Low fibrinogen level	http://purl.obolibrary.org/obo/HP_0011900							
HP:0011901	biolink:PhenotypicFeature	Dysfibrinogenemia	Qualitatively abnormal fibrinogen.	SNOMEDCT_US:111589005|UMLS:C1260903	hp.json	Dysfibrinogenaemia	http://purl.obolibrary.org/obo/HP_0011901							
HP:0011902	biolink:PhenotypicFeature	Abnormal hemoglobin	Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.	UMLS:C0349705	hp.json	Abnormal Hb|Abnormal haemoglobin	http://purl.obolibrary.org/obo/HP_0011902							
HP:0011903	biolink:PhenotypicFeature	HbH hemoglobin	Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.	SNOMEDCT_US:48553001|UMLS:C3161174	hp.json	Haemoglobin H|HbH haemoglobin|Hemoglobin H	http://purl.obolibrary.org/obo/HP_0011903							
HP:0011904	biolink:PhenotypicFeature	Persistence of hemoglobin F	Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.	UMLS:C0239941	hp.json	Persistence of HbF|Increased haemoglobin F|Persistence of haemoglobin F|Increased hemoglobin F	http://purl.obolibrary.org/obo/HP_0011904							
HP:0011905	biolink:PhenotypicFeature	Reduced hemoglobin A	Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.	UMLS:C4023138	hp.json	Reduced HbA|Reduced haemoglobin A	http://purl.obolibrary.org/obo/HP_0011905							
HP:0011906	biolink:PhenotypicFeature	Reduced beta/alpha synthesis ratio	A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.	UMLS:C4023137	hp.json		http://purl.obolibrary.org/obo/HP_0011906							
HP:0011907	biolink:PhenotypicFeature	Reduced alpha/beta synthesis ratio	A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.	UMLS:C4023136	hp.json		http://purl.obolibrary.org/obo/HP_0011907							
HP:0011908	biolink:PhenotypicFeature	Unilateral radial aplasia	Missing radius bone on one side only associated with congenital failure of development.	UMLS:C4023135	hp.json		http://purl.obolibrary.org/obo/HP_0011908							
HP:0011909	biolink:PhenotypicFeature	Flattened metacarpal heads	Abnormally flat shape of the heads of the metacarpal bones.	UMLS:C4023134	hp.json	Flattened head of long bone of hand	http://purl.obolibrary.org/obo/HP_0011909							
HP:0011910	biolink:PhenotypicFeature	Shortening of all phalanges of fingers	Abnormal reduction in length affecting all phalanges.	UMLS:C4023133	hp.json	Shortening of all finger bones	http://purl.obolibrary.org/obo/HP_0011910							
HP:0011911	biolink:PhenotypicFeature	Abnormality of metacarpophalangeal joint	An anomaly of a metacarpophalangeal joint.	UMLS:C4023132	hp.json	Abnormality of the knuckle	http://purl.obolibrary.org/obo/HP_0011911							
HP:0011912	biolink:PhenotypicFeature	Abnormality of the glenoid fossa	An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.	UMLS:C4023131	hp.json		http://purl.obolibrary.org/obo/HP_0011912							
HP:0011913	biolink:PhenotypicFeature	Lumbar hypertrichosis	Excessive, increased hair growth located in the lumbar region.	UMLS:C4023130	hp.json		http://purl.obolibrary.org/obo/HP_0011913							
HP:0011914	biolink:PhenotypicFeature	Thoracic hypertrichosis	Excessive, increased hair growth located in the thoracic region.	UMLS:C4023129	hp.json		http://purl.obolibrary.org/obo/HP_0011914							
HP:0011915	biolink:PhenotypicFeature	Cardiovascular calcification	Abnormal calcification in the cardiovascular system.	UMLS:C4023128	hp.json		http://purl.obolibrary.org/obo/HP_0011915							
HP:0011916	biolink:PhenotypicFeature	Toe extensor amyotrophy	Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.	UMLS:C4023127	hp.json		http://purl.obolibrary.org/obo/HP_0011916							
HP:0011917	biolink:PhenotypicFeature	Short 5th toe	Underdevelopment (hypoplasia) of the fifth toe.	UMLS:C4021111	hp.json	Short little toe|Short pinkie toe|Short pinky toe|Short fifth toe	http://purl.obolibrary.org/obo/HP_0011917							
HP:0011918	biolink:PhenotypicFeature	Clinodactyly of the 4th toe	Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).	UMLS:C4020740	hp.json	Curvature of 4th toe|4th toe clinodactyly	http://purl.obolibrary.org/obo/HP_0011918							
HP:0011919	biolink:PhenotypicFeature	Pleural empyema	Accumulation of pus in the pleural cavity.	MSH:D016724|SNOMEDCT_US:405950009|SNOMEDCT_US:405951008|SNOMEDCT_US:58554001|UMLS:C0014013	hp.json	Pyothorax	http://purl.obolibrary.org/obo/HP_0011919							
HP:0011920	biolink:PhenotypicFeature	Transudative pleural effusion	A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.	MSH:D006876|SNOMEDCT_US:79231000|UMLS:C0020312	hp.json		http://purl.obolibrary.org/obo/HP_0011920							
HP:0011921	biolink:PhenotypicFeature	Exudative pleural effusion	A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.	SNOMEDCT_US:13841000119107|UMLS:C3887491	hp.json		http://purl.obolibrary.org/obo/HP_0011921							
HP:0011922	biolink:PhenotypicFeature	Abnormal activity of mitochondrial respiratory chain	An increased or decreased activity of the mitochondrial respiratory chain.	UMLS:C4023126	hp.json		http://purl.obolibrary.org/obo/HP_0011922							
HP:0011923	biolink:PhenotypicFeature	Decreased activity of mitochondrial complex I	A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.	UMLS:C2677650|UMLS:C4020739	hp.json	Respiratory complex I deficiency	http://purl.obolibrary.org/obo/HP_0011923							
HP:0011924	biolink:PhenotypicFeature	Decreased activity of mitochondrial complex III	A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.	UMLS:C3149083|UMLS:C4020738	hp.json	Respiratory complex III deficiency	http://purl.obolibrary.org/obo/HP_0011924							
HP:0011925	biolink:PhenotypicFeature	Decreased activity of mitochondrial ATP synthase complex	A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.	UMLS:C4020737|UMLS:C4023125	hp.json	Respiratory complex deficiency, ATPase deficiency	http://purl.obolibrary.org/obo/HP_0011925							
HP:0011926	biolink:PhenotypicFeature	Proximal placement of hallux	Proximal mislocalization of the big toe from its normal position.	UMLS:C4021110	hp.json	Proximally placed halluces|Proximal placement of big toe	http://purl.obolibrary.org/obo/HP_0011926							
HP:0011927	biolink:PhenotypicFeature	Short digit	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.	UMLS:C1860176|UMLS:C4023124	hp.json	Short digit|Very short digits	http://purl.obolibrary.org/obo/HP_0011927							
HP:0011928	biolink:PhenotypicFeature	Short proximal phalanx of toe	Developmental hypoplasia (shortening) of proximal phalanx of toe.	UMLS:C4023123	hp.json	Short innermost toe bone	http://purl.obolibrary.org/obo/HP_0011928							
HP:0011929	biolink:PhenotypicFeature	Hypersegmentation of proximal phalanx of third finger	Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.	UMLS:C4023122	hp.json		http://purl.obolibrary.org/obo/HP_0011929							
HP:0011930	biolink:PhenotypicFeature	Hyperextensible skin of chest		UMLS:C4021836	hp.json	Hyperelastic chest skin|Stretchable chest skin	http://purl.obolibrary.org/obo/HP_0011930							
HP:0011931	biolink:PhenotypicFeature	Abnormal cerebellar peduncle morphology	An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.	UMLS:C4023121	hp.json	Abnormality of the cerebellar peduncle	http://purl.obolibrary.org/obo/HP_0011931							
HP:0011932	biolink:PhenotypicFeature	Abnormal superior cerebellar peduncle morphology	An anomaly of the superior cerebellar peduncle.	UMLS:C4023120	hp.json	Abnormality of the superior cerebellar peduncle	http://purl.obolibrary.org/obo/HP_0011932							
HP:0011933	biolink:PhenotypicFeature	Elongated superior cerebellar peduncle	Increased length of the superior cerebellar peduncle.	UMLS:C3810214|UMLS:C4021109	hp.json	Long cerebellar peduncle|Long cerebellar peduncles|Elongated superior cerebellar peduncles	http://purl.obolibrary.org/obo/HP_0011933							
HP:0011934	biolink:PhenotypicFeature	Dilatation of mesenteric artery	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .	UMLS:C4023119	hp.json	Mesenteric artery aneurysm	http://purl.obolibrary.org/obo/HP_0011934							
HP:0011935	biolink:PhenotypicFeature	Decreased urinary urate	Decreased concentration of urate in the urine.	UMLS:C4023118	hp.json		http://purl.obolibrary.org/obo/HP_0011935							
HP:0011936	biolink:PhenotypicFeature	Decreased plasma total carnitine	A decreased concentration of total carnitine in the blood.	UMLS:C4023117	hp.json	Decreased plasma total carnitine	http://purl.obolibrary.org/obo/HP_0011936							
HP:0011937	biolink:PhenotypicFeature	Hypoplastic fifth toenail	Underdeveloped nails of the fifth toes.	UMLS:C4023116	hp.json	Small fifth toenail|Underdeveloped fifth toenail	http://purl.obolibrary.org/obo/HP_0011937							
HP:0011939	biolink:PhenotypicFeature	3-4 finger cutaneous syndactyly	A soft tissue continuity in the A/P axis between fingers 3 and 4.	UMLS:C4023115	hp.json		http://purl.obolibrary.org/obo/HP_0011939							
HP:0011940	biolink:PhenotypicFeature	Anterior wedging of T12	An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).	UMLS:C4021108	hp.json	Anterior wedging of the 12th thoracic vertebra|Wedge-shaped 12th thoracic vertebra	http://purl.obolibrary.org/obo/HP_0011940							
HP:0011941	biolink:PhenotypicFeature	Anterior wedging of L2	An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).	UMLS:C4023114	hp.json		http://purl.obolibrary.org/obo/HP_0011941							
HP:0011942	biolink:PhenotypicFeature	Increased urinary sulfite	Increased concentration of SO3(2-), i.e., sulfite, in the urine.	UMLS:C1848957	hp.json		http://purl.obolibrary.org/obo/HP_0011942							
HP:0011943	biolink:PhenotypicFeature	Increased urinary thiosulfate	Increased concentration of thiosulfate(2-) in the urine.	UMLS:C3148695	hp.json		http://purl.obolibrary.org/obo/HP_0011943							
HP:0011944	biolink:PhenotypicFeature	Small vessel vasculitis	A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.	UMLS:C4023113	hp.json		http://purl.obolibrary.org/obo/HP_0011944							
HP:0011945	biolink:PhenotypicFeature	Bronchiolitis obliterans organizing pneumonia	Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.	MSH:D018549|SNOMEDCT_US:129458007|UMLS:C0242770	hp.json	BOOP|Bronchiolitis obliterans organising pneumonia|Cryptogenic organising pneumonia|Cryptogenic organizing pneumonia	http://purl.obolibrary.org/obo/HP_0011945							
HP:0011946	biolink:PhenotypicFeature	Bronchiolitis obliterans	Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.	MSH:D001989|SNOMEDCT_US:40100001|UMLS:C0006272|UMLS:C2350875	hp.json	Constrictive bronchiolitis|Obliterative bronchiolitis	http://purl.obolibrary.org/obo/HP_0011946							
HP:0011947	biolink:PhenotypicFeature	Respiratory tract infection	An infection of the upper or lower respiratory tract.	MSH:D012141|SNOMEDCT_US:275498002|UMLS:C0035243	hp.json	Respiratory infection|Respiratory tract infection|Respiratory infections	http://purl.obolibrary.org/obo/HP_0011947							
HP:0011948	biolink:PhenotypicFeature	Recurrent acute respiratory tract infection	A history of repeated acute infections of the upper or lower respiratory tract.	UMLS:C1442786	hp.json	Acute respiratory tract infection	http://purl.obolibrary.org/obo/HP_0011948							
HP:0011949	biolink:PhenotypicFeature	Acute infectious pneumonia	Acute inflammation of the lung due to an infection.	UMLS:C4023112	hp.json		http://purl.obolibrary.org/obo/HP_0011949							
HP:0011950	biolink:PhenotypicFeature	Bronchiolitis	Inflammation of the bronchioles.	MSH:D001988|SNOMEDCT_US:4120002|UMLS:C0006271	hp.json		http://purl.obolibrary.org/obo/HP_0011950							
HP:0011951	biolink:PhenotypicFeature	Aspiration pneumonia	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.	MSH:D011015|SNOMEDCT_US:422588002|UMLS:C0032290	hp.json		http://purl.obolibrary.org/obo/HP_0011951							
HP:0011952	biolink:PhenotypicFeature	Acute aspiration pneumonia	An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.	SNOMEDCT_US:35031000119100|UMLS:C4023111	hp.json		http://purl.obolibrary.org/obo/HP_0011952							
HP:0011953	biolink:PhenotypicFeature	Pulmonary lymphoma	Lung parenchymal involvement with lymphoma.	UMLS:C0519063	hp.json		http://purl.obolibrary.org/obo/HP_0011953							
HP:0011954	biolink:PhenotypicFeature	Nodular regenerative hyperplasia of liver	Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.	SNOMEDCT_US:65860006|SNOMEDCT_US:715140008|UMLS:C1318485	hp.json	Nodular transformation of liver|Noncirrhotic nodulation|Partial nodular transformation of liver	http://purl.obolibrary.org/obo/HP_0011954							
HP:0011955	biolink:PhenotypicFeature	Hepatic granulomatosis	The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.	UMLS:C4023110	hp.json		http://purl.obolibrary.org/obo/HP_0011955							
HP:0011956	biolink:PhenotypicFeature	Intestinal lymphoid nodular hyperplasia	A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.	UMLS:C4023109	hp.json		http://purl.obolibrary.org/obo/HP_0011956							
HP:0011957	biolink:PhenotypicFeature	Abnormal pectoral muscle morphology	An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.	UMLS:C4023108	hp.json	Abnormal pec muscles	http://purl.obolibrary.org/obo/HP_0011957							
HP:0011958	biolink:PhenotypicFeature	Retinal perforation	A small hole through the whole thickness of the retina.	MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|UMLS:C0035321	hp.json	Retinal tear|Torn retina	http://purl.obolibrary.org/obo/HP_0011958							
HP:0011959	biolink:PhenotypicFeature	Unilateral hypoplasia of pectoralis major muscle	Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.	UMLS:C4023107	hp.json	Small pec muscle on one side|Underdeveloped pec muscle on one side	http://purl.obolibrary.org/obo/HP_0011959							
HP:0011960	biolink:PhenotypicFeature	Substantia nigra gliosis	Focal proliferation of glial cells in the substantia nigra.	UMLS:C1846865	hp.json		http://purl.obolibrary.org/obo/HP_0011960							
HP:0011961	biolink:PhenotypicFeature	Non-obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.	UMLS:C4021107	hp.json	Testicular azoospermia	http://purl.obolibrary.org/obo/HP_0011961							
HP:0011962	biolink:PhenotypicFeature	Obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.	UMLS:C4023106	hp.json		http://purl.obolibrary.org/obo/HP_0011962							
HP:0011963	biolink:PhenotypicFeature	Pretesticular azoospermia	Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.	UMLS:C4023105	hp.json		http://purl.obolibrary.org/obo/HP_0011963							
HP:0011964	biolink:PhenotypicFeature	Intermittent painful muscle spasms	History of repeated intermittent involuntary muscle contractions that were painful.	UMLS:C4023104	hp.json		http://purl.obolibrary.org/obo/HP_0011964							
HP:0011965	biolink:PhenotypicFeature	Abnormal circulating citrulline concentration	Any deviation from the normal concentration of citrulline in the blood circulation.	UMLS:C4023103	hp.json		http://purl.obolibrary.org/obo/HP_0011965							
HP:0011966	biolink:PhenotypicFeature	Elevated plasma citrulline	An increased concentration of citrulline in the blood.	UMLS:C4023102	hp.json		http://purl.obolibrary.org/obo/HP_0011966							
HP:0011967	biolink:PhenotypicFeature	Decreased circulating copper concentration	A reduced concentration of copper in the blood.	SNOMEDCT_US:19577007|UMLS:C0268070	hp.json	Copper deficiency|Hypocupremia|Reduced serum copper	http://purl.obolibrary.org/obo/HP_0011967							
HP:0011968	biolink:PhenotypicFeature	Feeding difficulties	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.	SNOMEDCT_US:78164000|UMLS:C0232466	hp.json	Feeding difficulties|Feeding problems|Poor feeding	http://purl.obolibrary.org/obo/HP_0011968							hposlim_core
HP:0011969	biolink:PhenotypicFeature	Elevated circulating luteinizing hormone level	An elevated concentration of luteinizing hormone in the blood.	UMLS:C4023101	hp.json	Elevated LH level|Elevated luteinizing hormone|Increased circulating luteinizing hormone level	http://purl.obolibrary.org/obo/HP_0011969							
HP:0011970	biolink:PhenotypicFeature	Cerebral amyloid angiopathy	Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.	MSH:D016657|SNOMEDCT_US:230724001|UMLS:C0085220	hp.json		http://purl.obolibrary.org/obo/HP_0011970							
HP:0011971	biolink:PhenotypicFeature	Dermatographic urticaria	An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).	SNOMEDCT_US:402410006|SNOMEDCT_US:402601007|SNOMEDCT_US:7632005|UMLS:C0343065	hp.json	Skin writing|Dermatographism|Dermographism	http://purl.obolibrary.org/obo/HP_0011971							
HP:0011972	biolink:PhenotypicFeature	Hypoglycorrhachia	Abnormally low glucose concentration in the cerebrospinal fluid.	UMLS:C0598121	hp.json	Low glucose levels in cerebral spinal fluid|Decreased CSF glucose	http://purl.obolibrary.org/obo/HP_0011972							
HP:0011973	biolink:PhenotypicFeature	Paroxysmal lethargy	Repeated episodes of sudden-onset and transient lethargy.	UMLS:C1847507	hp.json		http://purl.obolibrary.org/obo/HP_0011973							
HP:0011974	biolink:PhenotypicFeature	Myelofibrosis	Replacement of bone marrow by fibrous tissue.	SNOMEDCT_US:52967002|UMLS:C0026987	hp.json		http://purl.obolibrary.org/obo/HP_0011974							
HP:0011975	biolink:PhenotypicFeature	Aminoglycoside-induced hearing loss	Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.	UMLS:C4023100	hp.json		http://purl.obolibrary.org/obo/HP_0011975							
HP:0011976	biolink:PhenotypicFeature	Elevated urinary catecholamines	An increased concentration of catecholamine in the urine.	UMLS:C0241577	hp.json	Elevated urinary catecholamines	http://purl.obolibrary.org/obo/HP_0011976							
HP:0011977	biolink:PhenotypicFeature	Elevated urinary homovanillic acid	An increased concentration of homovanillic acid in the urine.	UMLS:C4020736	hp.json	Increased urinary homovanillic acid	http://purl.obolibrary.org/obo/HP_0011977							
HP:0011978	biolink:PhenotypicFeature	Elevated urinary vanillylmandelic acid	An increased concentration of vanillylmandelic acid in the urine.	UMLS:C4020735	hp.json	Increased urinary vanillylmandelic acid	http://purl.obolibrary.org/obo/HP_0011978							
HP:0011979	biolink:PhenotypicFeature	Elevated urinary dopamine	An increased concentration of dopamine in the urine.	UMLS:C4023099	hp.json	Elevated urinary dopamine	http://purl.obolibrary.org/obo/HP_0011979							
HP:0011980	biolink:PhenotypicFeature	Cholesterol gallstones	Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.	UMLS:C0856727	hp.json		http://purl.obolibrary.org/obo/HP_0011980							
HP:0011981	biolink:PhenotypicFeature	Pigment gallstones	Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.	UMLS:C3278865	hp.json		http://purl.obolibrary.org/obo/HP_0011981							
HP:0011982	biolink:PhenotypicFeature	Black pigment gallstones	A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.	UMLS:C4023098	hp.json		http://purl.obolibrary.org/obo/HP_0011982							
HP:0011983	biolink:PhenotypicFeature	Brown pigment gallstones	A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.	UMLS:C4023097	hp.json		http://purl.obolibrary.org/obo/HP_0011983							
HP:0011984	biolink:PhenotypicFeature	Atretic gallbladder	Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.	UMLS:C3277945	hp.json	Gallbladder atresia	http://purl.obolibrary.org/obo/HP_0011984							
HP:0011985	biolink:PhenotypicFeature	Acholic stools	Clay colored stools lacking bile pigment.	SNOMEDCT_US:70396004|UMLS:C2675627	hp.json	Clay colored stools|Clay coloured stools|Acholia|Discolored, acholic stools	http://purl.obolibrary.org/obo/HP_0011985							
HP:0011986	biolink:PhenotypicFeature	Ectopic ossification	Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.	MEDDRA:10065453|MSH:D009999|SNOMEDCT_US:128491006|UMLS:C0029396	hp.json	Ectopic bone formation|Heterotopic ossification	http://purl.obolibrary.org/obo/HP_0011986							
HP:0011987	biolink:PhenotypicFeature	Ectopic ossification in muscle tissue	Formation of abnormal bony tissue within muscle tissue.	UMLS:C4023096	hp.json	Calcification of muscle tissue	http://purl.obolibrary.org/obo/HP_0011987							
HP:0011988	biolink:PhenotypicFeature	Ectopic ossification in tendon tissue	Formation of abnormal bony tissue within tendon tissue.	UMLS:C4023095	hp.json		http://purl.obolibrary.org/obo/HP_0011988							
HP:0011989	biolink:PhenotypicFeature	Ectopic ossification in ligament tissue	Formation of abnormal bony tissue within ligament tissue.	UMLS:C4023094	hp.json		http://purl.obolibrary.org/obo/HP_0011989							
HP:0011990	biolink:PhenotypicFeature	Abnormality of neutrophil physiology	A functional abnormality of neutrophils.	UMLS:C4023093	hp.json		http://purl.obolibrary.org/obo/HP_0011990							
HP:0011991	biolink:PhenotypicFeature	Abnormal neutrophil count	A deviation from the normal range of neutrophil cell counts in the circulation.	UMLS:C4023092	hp.json	Abnormal neutrophil cell number	http://purl.obolibrary.org/obo/HP_0011991							
HP:0011992	biolink:PhenotypicFeature	Abnormality of neutrophil morphology	An abnormal form or size of neutrophils.	UMLS:C4023091	hp.json		http://purl.obolibrary.org/obo/HP_0011992							
HP:0011993	biolink:PhenotypicFeature	Impaired neutrophil bactericidal activity	A reduction in the ability of neutrophils to kill bacteria.	UMLS:C4023090	hp.json		http://purl.obolibrary.org/obo/HP_0011993							
HP:0011994	biolink:PhenotypicFeature	Abnormal atrial septum morphology	An abnormality of the interatrial septum.	Fyler:2002|SNOMEDCT_US:253363004|UMLS:C0344722	hp.json	Abnormal interatrial septum morphology|Abnormality of the atrial septum	http://purl.obolibrary.org/obo/HP_0011994							
HP:0011995	biolink:PhenotypicFeature	Atrial septal dilatation	A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.	SNOMEDCT_US:95440004|UMLS:C0521533	hp.json	Atrial septal aneurysm	http://purl.obolibrary.org/obo/HP_0011995							
HP:0011996	biolink:PhenotypicFeature	Elevated coagulation factor V activity	Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.	UMLS:C4021106	hp.json	Elevated factor V activity|Plasma factor V elevated	http://purl.obolibrary.org/obo/HP_0011996							
HP:0011997	biolink:PhenotypicFeature	Postprandial hyperlactemia	Abnormally increased level of blood lactate following a meal.	UMLS:C4023089	hp.json		http://purl.obolibrary.org/obo/HP_0011997							
HP:0011998	biolink:PhenotypicFeature	Postprandial hyperglycemia	An increased concentration of glucose in the blood following a meal.	MSH:D006943|UMLS:C1855520	hp.json		http://purl.obolibrary.org/obo/HP_0011998							
HP:0011999	biolink:PhenotypicFeature	Paranoia	A persecutory delusion of supposed hostility of others.	MSH:D010259|SNOMEDCT_US:191667009|UMLS:C1456784	hp.json	Paranoia	http://purl.obolibrary.org/obo/HP_0011999							
HP:0012000	biolink:PhenotypicFeature	EEG with generalized spikes	EEG with generalized sharp transient waves of a duration less than 80 msec.	UMLS:C2206531	hp.json	EEG with generalised spikes	http://purl.obolibrary.org/obo/HP_0012000							
HP:0012001	biolink:PhenotypicFeature	EEG with generalized polyspikes	EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.	UMLS:C4023088	hp.json	EEG with generalised polyspikes	http://purl.obolibrary.org/obo/HP_0012001							
HP:0012002	biolink:PhenotypicFeature	Experiential epileptic aura	Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.	UMLS:C4023087	hp.json	Experiential auras|Experiential aura	http://purl.obolibrary.org/obo/HP_0012002							
HP:0012003	biolink:PhenotypicFeature	Affective epileptic aura	Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.	UMLS:C4023086	hp.json	Affective auras|Affective aura|Emotional aura	http://purl.obolibrary.org/obo/HP_0012003							
HP:0012004	biolink:PhenotypicFeature	Focal cognitive seizure with deja vu/jamais vu	A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.	UMLS:C4023085	hp.json	Mnemonic auras|Mnemonic aura	http://purl.obolibrary.org/obo/HP_0012004							
HP:0012005	biolink:PhenotypicFeature	Deja vu aura	A subjective feeling that an experience which is occurring for the first time has been experienced before.	MSH:D003690|SNOMEDCT_US:313005|UMLS:C0011194	hp.json	Deja vu	http://purl.obolibrary.org/obo/HP_0012005							
HP:0012006	biolink:PhenotypicFeature	Jamais vu aura	A subjective feeling that an experience which has occurred before is being experienced for the first time.	SNOMEDCT_US:28249008|UMLS:C0233803	hp.json	Jamais vu	http://purl.obolibrary.org/obo/HP_0012006							
HP:0012007	biolink:PhenotypicFeature	Focal cognitive seizure with hallucination	A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.	UMLS:C4023084	hp.json	Hallucinatory auras|Hallucinatory aura	http://purl.obolibrary.org/obo/HP_0012007							
HP:0012008	biolink:PhenotypicFeature	Focal cognitive seizure with illusion	A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.	UMLS:C4023083	hp.json	Illusory auras|Illusory aura	http://purl.obolibrary.org/obo/HP_0012008							
HP:0012009	biolink:PhenotypicFeature	EEG with central focal spike waves	EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4023082	hp.json		http://purl.obolibrary.org/obo/HP_0012009							
HP:0012010	biolink:PhenotypicFeature	EEG with frontal focal spike waves	EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4023081	hp.json		http://purl.obolibrary.org/obo/HP_0012010							
HP:0012011	biolink:PhenotypicFeature	EEG with occipital focal spike waves	EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4023080	hp.json		http://purl.obolibrary.org/obo/HP_0012011							
HP:0012012	biolink:PhenotypicFeature	EEG with parietal focal spike waves	EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4023079	hp.json		http://purl.obolibrary.org/obo/HP_0012012							
HP:0012013	biolink:PhenotypicFeature	EEG with temporal focal spike waves	EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4023078	hp.json		http://purl.obolibrary.org/obo/HP_0012013							
HP:0012014	biolink:PhenotypicFeature	EEG with central focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the central region.	UMLS:C4023077	hp.json		http://purl.obolibrary.org/obo/HP_0012014							
HP:0012015	biolink:PhenotypicFeature	EEG with frontal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.	UMLS:C4023076	hp.json		http://purl.obolibrary.org/obo/HP_0012015							
HP:0012016	biolink:PhenotypicFeature	EEG with occipital focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.	UMLS:C4023075	hp.json		http://purl.obolibrary.org/obo/HP_0012016							
HP:0012017	biolink:PhenotypicFeature	EEG with parietal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.	UMLS:C4023074	hp.json		http://purl.obolibrary.org/obo/HP_0012017							
HP:0012018	biolink:PhenotypicFeature	EEG with temporal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.	UMLS:C4023073	hp.json		http://purl.obolibrary.org/obo/HP_0012018							
HP:0012019	biolink:PhenotypicFeature	Lens luxation	Complete dislocation of the lens of the eye.	MSH:D007906|UMLS:C0023309	hp.json	Dislocated lens|Dislocated lenses	http://purl.obolibrary.org/obo/HP_0012019							
HP:0012020	biolink:PhenotypicFeature	Right aortic arch	Aorta descends on right instead of on the left.	Fyler:2720|SNOMEDCT_US:111321007|SNOMEDCT_US:244229003|UMLS:C0035615	hp.json	Right-sided aortic arch	http://purl.obolibrary.org/obo/HP_0012020							
HP:0012021	biolink:PhenotypicFeature	Persistent patent ductus venosus	Persistence of blood flow through the ductus venosus for longer than the normal time after birth.	UMLS:C4023072	hp.json		http://purl.obolibrary.org/obo/HP_0012021							
HP:0012022	biolink:PhenotypicFeature	Congenital portosystemic venous shunt	A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).	MSH:C562830|SNOMEDCT_US:253330006|UMLS:C0344688	hp.json		http://purl.obolibrary.org/obo/HP_0012022							
HP:0012023	biolink:PhenotypicFeature	Galactosuria	Elevated concentration of galactose in the urine.	SNOMEDCT_US:71690006|UMLS:C0268157	hp.json	Increased urinary galactose level	http://purl.obolibrary.org/obo/HP_0012023							
HP:0012024	biolink:PhenotypicFeature	Hypergalactosemia	Elevated concentration of galactose in the blood.	MSH:D005693|SNOMEDCT_US:190745006|SNOMEDCT_US:190749000|UMLS:C0016952|UMLS:C4023071	hp.json	Galactosemia	http://purl.obolibrary.org/obo/HP_0012024							
HP:0012025	biolink:PhenotypicFeature	Abnormal circulating ornithine concentration	Deviation from the normal concentration of ornithine in the blood circulation.	UMLS:C4023070	hp.json		http://purl.obolibrary.org/obo/HP_0012025							
HP:0012026	biolink:PhenotypicFeature	Hyperornithinemia	Increased concentration of ornithine in the blood.	MSH:D015799|SNOMEDCT_US:276426004|SNOMEDCT_US:33985005|UMLS:C0599035	hp.json	High blood ornithine levels	http://purl.obolibrary.org/obo/HP_0012026							
HP:0012027	biolink:PhenotypicFeature	Laryngeal edema	An abnormal accumulation of fluid and swelling in the tissues of the larynx.	MSH:D007819|SNOMEDCT_US:51599000|UMLS:C0023052	hp.json	Laryngeal oedema	http://purl.obolibrary.org/obo/HP_0012027							
HP:0012028	biolink:PhenotypicFeature	Hepatocellular adenoma	A benign tumor of the liver of presumably epithelial origin.	MPATH:353|MSH:D018248|SNOMEDCT_US:424263008|SNOMEDCT_US:78058005|UMLS:C0206669	hp.json	Hepatic adenoma|Liver cell adenoma	http://purl.obolibrary.org/obo/HP_0012028							
HP:0012029	biolink:PhenotypicFeature	Abnormal urine hormone level	An abnormal concentration of a hormone in the urine.	UMLS:C4023069	hp.json	Abnormality of urine hormone level	http://purl.obolibrary.org/obo/HP_0012029							
HP:0012030	biolink:PhenotypicFeature	Increased urinary cortisol level	Abnormally increased concentration of cortisol in the urine.	UMLS:C4023068	hp.json	High urine cortisol level	http://purl.obolibrary.org/obo/HP_0012030							
HP:0012031	biolink:PhenotypicFeature	Lipomatous tumor		MPATH:415|MSH:D018205|SNOMEDCT_US:115227001|SNOMEDCT_US:254827004|SNOMEDCT_US:254831005|UMLS:C0206631	hp.json	Lipomatous tumour	http://purl.obolibrary.org/obo/HP_0012031							
HP:0012032	biolink:PhenotypicFeature	Lipoma	Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.	MEDDRA:10024612|MPATH:417|MSH:D008067|SNOMEDCT_US:46720004|SNOMEDCT_US:93163002|UMLS:C0023798	hp.json	Fatty lump|Noncancerous fatty lump	http://purl.obolibrary.org/obo/HP_0012032							hposlim_core
HP:0012033	biolink:PhenotypicFeature	Sacral lipoma	Presence of a lipoma in the region of the sacrum.	UMLS:C4021835	hp.json		http://purl.obolibrary.org/obo/HP_0012033							
HP:0012034	biolink:PhenotypicFeature	Liposarcoma	Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.	MPATH:418|MSH:D008080|SNOMEDCT_US:254829001|SNOMEDCT_US:49430005|UMLS:C0023827	hp.json		http://purl.obolibrary.org/obo/HP_0012034							
HP:0012035	biolink:PhenotypicFeature	Steatocystoma multiplex	Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).	MSH:D062685|SNOMEDCT_US:109433009|UMLS:C0259771	hp.json		http://purl.obolibrary.org/obo/HP_0012035							
HP:0012036	biolink:PhenotypicFeature	Sternocleidomastoid amyotrophy	Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.	UMLS:C4023067	hp.json		http://purl.obolibrary.org/obo/HP_0012036							
HP:0012037	biolink:PhenotypicFeature	Pectoralis amyotrophy	Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.	UMLS:C4023066	hp.json	Wasting of pec muscles	http://purl.obolibrary.org/obo/HP_0012037							
HP:0012038	biolink:PhenotypicFeature	Corneal guttata	Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.	SNOMEDCT_US:373424008|UMLS:C0271288	hp.json	Corneal endothelial guttata	http://purl.obolibrary.org/obo/HP_0012038							
HP:0012039	biolink:PhenotypicFeature	Descemet Membrane Folds	Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.	SNOMEDCT_US:193821003|UMLS:C0155116	hp.json		http://purl.obolibrary.org/obo/HP_0012039							
HP:0012040	biolink:PhenotypicFeature	Corneal stromal edema	Abnormal accumulation of fluid and swelling of the stroma of cornea.	SNOMEDCT_US:373430008|UMLS:C0474444	hp.json	Corneal stromal oedema	http://purl.obolibrary.org/obo/HP_0012040							
HP:0012041	biolink:PhenotypicFeature	Decreased fertility in males		UMLS:C0151640	hp.json	Decreased fertility in males	http://purl.obolibrary.org/obo/HP_0012041							
HP:0012042	biolink:PhenotypicFeature	Aspirin-induced asthma	A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.	MSH:D055963|SNOMEDCT_US:407674008|UMLS:C1319853	hp.json	Aspirin-induced asthma	http://purl.obolibrary.org/obo/HP_0012042							
HP:0012043	biolink:PhenotypicFeature	Pendular nystagmus	Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.	MSH:D009759|SNOMEDCT_US:35743001|UMLS:C0271388|UMLS:C4020734	hp.json	Nystagmus, continuous pendular|Nystagmus, pendular	http://purl.obolibrary.org/obo/HP_0012043							
HP:0012044	biolink:PhenotypicFeature	Seesaw nystagmus	Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.	MSH:D009759|SNOMEDCT_US:95782001|UMLS:C0344243	hp.json		http://purl.obolibrary.org/obo/HP_0012044							
HP:0012045	biolink:PhenotypicFeature	Retinal flecks	Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.	SNOMEDCT_US:247138002|UMLS:C0423414	hp.json		http://purl.obolibrary.org/obo/HP_0012045							
HP:0012046	biolink:PhenotypicFeature	Areflexia of upper limbs	Inability to elicit tendon reflexes in the upper limbs.	UMLS:C2674177	hp.json		http://purl.obolibrary.org/obo/HP_0012046							
HP:0012047	biolink:PhenotypicFeature	Hemeralopia	A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.	MSH:D014786|SNOMEDCT_US:399323001|UMLS:C0018975	hp.json	Day blindness	http://purl.obolibrary.org/obo/HP_0012047							
HP:0012048	biolink:PhenotypicFeature	Oromandibular dystonia	A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.	UMLS:C2242577	hp.json	Cranial dystonia	http://purl.obolibrary.org/obo/HP_0012048							
HP:0012049	biolink:PhenotypicFeature	Laryngeal dystonia	A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.	SNOMEDCT_US:3331000119108|UMLS:C1963946	hp.json	Spasmodic dysphonia	http://purl.obolibrary.org/obo/HP_0012049							
HP:0012050	biolink:PhenotypicFeature	Anasarca	An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.	MSH:D004487|SNOMEDCT_US:16740003|SNOMEDCT_US:442433009|UMLS:C0151603	hp.json	Extreme generalised oedema|Extreme generalized edema	http://purl.obolibrary.org/obo/HP_0012050							
HP:0012051	biolink:PhenotypicFeature	Reactive hypoglycemia	Hypoglycermia following a meal (or more generally, after intake of glucose).	MSH:D007003|SNOMEDCT_US:237638000|SNOMEDCT_US:317006|UMLS:C0271710	hp.json	Low blood sugar after a meal|Postprandial hypoglycemia	http://purl.obolibrary.org/obo/HP_0012051							
HP:0012052	biolink:PhenotypicFeature	Low serum calcitriol	A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.	UMLS:C4023065	hp.json	Low serum 1,25-dihydroxycholecalciferol|Low serum 1,25-dihydroxyvitamin D3	http://purl.obolibrary.org/obo/HP_0012052							
HP:0012053	biolink:PhenotypicFeature	Decreased circulating calcifediol concentration	A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.	UMLS:C4023064	hp.json	Decreased 25-hydroxyvitamin D3|Low serum 25-hydroxycholecalciferol|Low serum calcidiol|Low serum calcifediol	http://purl.obolibrary.org/obo/HP_0012053							
HP:0012054	biolink:PhenotypicFeature	Choroidal melanoma	Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).	NCIT:C3224|SNOMEDCT_US:255021005|UMLS:C0346388	hp.json		http://purl.obolibrary.org/obo/HP_0012054							
HP:0012055	biolink:PhenotypicFeature	Ciliary body melanoma	Malignant tumor of melanocytes of the ciliary body.	NCIT:C3224|SNOMEDCT_US:255015006|UMLS:C0346379	hp.json		http://purl.obolibrary.org/obo/HP_0012055							
HP:0012056	biolink:PhenotypicFeature	Cutaneous melanoma	The presence of a melanoma of the skin.	MSH:D008545|NCIT:C3224|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006|UMLS:C0025202	hp.json		http://purl.obolibrary.org/obo/HP_0012056							
HP:0012057	biolink:PhenotypicFeature	Superficial spreading melanoma	A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.	SNOMEDCT_US:254730000|SNOMEDCT_US:55320002|UMLS:C0334438	hp.json		http://purl.obolibrary.org/obo/HP_0012057							
HP:0012058	biolink:PhenotypicFeature	Nodular melanoma	A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.	SNOMEDCT_US:2142002|SNOMEDCT_US:254731001|UMLS:C0334424	hp.json		http://purl.obolibrary.org/obo/HP_0012058							
HP:0012059	biolink:PhenotypicFeature	Lentigo maligna melanoma	A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.	SNOMEDCT_US:302837001|SNOMEDCT_US:44474009|UMLS:C2739810	hp.json		http://purl.obolibrary.org/obo/HP_0012059							
HP:0012060	biolink:PhenotypicFeature	Acral lentiginous melanoma	A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.	SNOMEDCT_US:16974005|SNOMEDCT_US:254732008|UMLS:C0346037	hp.json		http://purl.obolibrary.org/obo/HP_0012060							
HP:0012061	biolink:PhenotypicFeature	Urinary excretion of sialylated oligosaccharides	Excretion of oligosaccharides conjugated to sialic acid in the urine.	UMLS:C2673302	hp.json	Increased urinary sialyloligosaccharides	http://purl.obolibrary.org/obo/HP_0012061							
HP:0012062	biolink:PhenotypicFeature	Bone cyst	A fluid filled cavity that develops with a bone.	MSH:D001845|SNOMEDCT_US:112643007|SNOMEDCT_US:203465002|SNOMEDCT_US:203467005|SNOMEDCT_US:66954000|UMLS:C0005937	hp.json	Bone cyst|Bone cysts	http://purl.obolibrary.org/obo/HP_0012062							
HP:0012063	biolink:PhenotypicFeature	Aneurysmal bone cyst	Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.	MSH:D017824|SNOMEDCT_US:203468000|SNOMEDCT_US:76000001|UMLS:C0152244	hp.json		http://purl.obolibrary.org/obo/HP_0012063							
HP:0012064	biolink:PhenotypicFeature	Unicameral bone cyst	A benign fluid filled simple cyst of bone filled with serous fluid.	SNOMEDCT_US:112643007|SNOMEDCT_US:203467005|UMLS:C4082185	hp.json		http://purl.obolibrary.org/obo/HP_0012064							
HP:0012065	biolink:PhenotypicFeature	Multiple bony cystic lesions	Presence of multiple cystic changes in multiple areas or multiple bones.	UMLS:C4023063	hp.json	Multiple bony cystic lesions	http://purl.obolibrary.org/obo/HP_0012065							
HP:0012066	biolink:PhenotypicFeature	Increased urinary disaccharide excretion	Increased concentration of disaccharide in the urine.	UMLS:C4023062	hp.json		http://purl.obolibrary.org/obo/HP_0012066							
HP:0012067	biolink:PhenotypicFeature	Glycopeptiduria	Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.	UMLS:C4023061	hp.json	High urine glycopeptide levels	http://purl.obolibrary.org/obo/HP_0012067							
HP:0012068	biolink:PhenotypicFeature	Aspartylglucosaminuria	Excretion of excess amounts of aspartylglucosamine in the urine.	MSH:D054880|SNOMEDCT_US:54954004|UMLS:C0268225	hp.json	High urine aspartylglucosamine levels	http://purl.obolibrary.org/obo/HP_0012068							
HP:0012069	biolink:PhenotypicFeature	Keratan sulfate excretion in urine	An increased concentration of keratan sulfate in the urine.	UMLS:C4023060	hp.json	Keratan sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0012069							
HP:0012070	biolink:PhenotypicFeature	Chondroitin sulfate excretion in urine	An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.	UMLS:C4023059	hp.json	Chondroitin sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0012070							
HP:0012071	biolink:PhenotypicFeature	Abnormal circulating acetylcarnitine concentration	Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.	UMLS:C4020733|UMLS:C4023058	hp.json	Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile	http://purl.obolibrary.org/obo/HP_0012071							
HP:0012072	biolink:PhenotypicFeature	Aciduria	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.	SNOMEDCT_US:21806007|UMLS:C0278026	hp.json	Acidic urine	http://purl.obolibrary.org/obo/HP_0012072							
HP:0012073	biolink:PhenotypicFeature	Abnormal urinary acylglycine profile	An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.	UMLS:C4023057	hp.json		http://purl.obolibrary.org/obo/HP_0012073							
HP:0012074	biolink:PhenotypicFeature	Tonic pupil	An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.	MSH:D015845|SNOMEDCT_US:24225004|UMLS:C0040416	hp.json	Adie pupil|Adie's tonic pupil	http://purl.obolibrary.org/obo/HP_0012074							hposlim_core
HP:0012075	biolink:PhenotypicFeature	Personality disorder	An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.	ICD-10:F60|MSH:D010554|SNOMEDCT_US:33449004|UMLS:C0031212	hp.json		http://purl.obolibrary.org/obo/HP_0012075							
HP:0012076	biolink:PhenotypicFeature	Borderline personality disorder	A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.	ICD-10:F60.3|MSH:D001883|SNOMEDCT_US:20010003|UMLS:C0006012	hp.json	BPD	http://purl.obolibrary.org/obo/HP_0012076							
HP:0012077	biolink:PhenotypicFeature	Histrionic personality disorder	A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.	ICD-10:F60.4|MSH:D006677|SNOMEDCT_US:55341008|UMLS:C0019681	hp.json		http://purl.obolibrary.org/obo/HP_0012077							
HP:0012078	biolink:PhenotypicFeature	Motor conduction block	Blockade of impulses at a focal site along the course of a motor axon.	UMLS:C4023056	hp.json		http://purl.obolibrary.org/obo/HP_0012078							
HP:0012079	biolink:PhenotypicFeature	Abnormality of central motor conduction	Any anomaly of the conduction of motor nerve impulses in the central nervous system.	UMLS:C4023055	hp.json		http://purl.obolibrary.org/obo/HP_0012079							
HP:0012080	biolink:PhenotypicFeature	Cerebellar granular layer atrophy	Atrophy of the cerebellum affecting primarily the granular cell layer.	UMLS:C4023054	hp.json		http://purl.obolibrary.org/obo/HP_0012080							
HP:0012081	biolink:PhenotypicFeature	Enlarged cerebellum	An abnormally increased size of the cerebellum compared to other brain structures.	UMLS:C3278024	hp.json		http://purl.obolibrary.org/obo/HP_0012081							
HP:0012082	biolink:PhenotypicFeature	Cerebellar Purkinje layer atrophy	Atrophy of the cerebellum affecting primarily the Purkinje cell layer.	UMLS:C4023053	hp.json		http://purl.obolibrary.org/obo/HP_0012082							
HP:0012083	biolink:PhenotypicFeature	Ubiquitin-positive cerebral inclusion bodies	Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.	UMLS:C4023052	hp.json		http://purl.obolibrary.org/obo/HP_0012083							
HP:0012084	biolink:PhenotypicFeature	Abnormality of skeletal muscle fiber size	Any abnormality of the size of the skeletal muscle cell.	UMLS:C4023051	hp.json	Abnormality of skeletal muscle fibre size	http://purl.obolibrary.org/obo/HP_0012084							
HP:0012085	biolink:PhenotypicFeature	Pyuria	The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.	MSH:D011776|SNOMEDCT_US:275765006|SNOMEDCT_US:4800001|UMLS:C0034359	hp.json	High urine neutrophil count|Leukocyturia	http://purl.obolibrary.org/obo/HP_0012085							
HP:0012086	biolink:PhenotypicFeature	Abnormal urinary color	An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.	SNOMEDCT_US:102867009|SNOMEDCT_US:167239007|UMLS:C0522153	hp.json	Abnormal urinary color|Abnormal urinary colour|Abnormal urine color|Abnormal urine colour	http://purl.obolibrary.org/obo/HP_0012086							
HP:0012087	biolink:PhenotypicFeature	Abnormal mitochondrial shape	An anomaly in the surface contour of mitochondria.	UMLS:C4023050	hp.json		http://purl.obolibrary.org/obo/HP_0012087							
HP:0012088	biolink:PhenotypicFeature	Abnormal urinary odor	A deviation from the normal odor of the urine.	SNOMEDCT_US:8769003|UMLS:C0278045	hp.json	Abnormal urinary odor|Abnormal urinary odour|Abnormal urine smell	http://purl.obolibrary.org/obo/HP_0012088							
HP:0012089	biolink:PhenotypicFeature	Arteritis	Arterial inflammation.	MSH:D001167|SNOMEDCT_US:52089001|UMLS:C0003860	hp.json	Inflammation of artery	http://purl.obolibrary.org/obo/HP_0012089							
HP:0012090	biolink:PhenotypicFeature	Abnormal pancreas morphology		UMLS:C4023049	hp.json	Abnormally shaped pancreas|Abnormality of pancreas morphology	http://purl.obolibrary.org/obo/HP_0012090							
HP:0012091	biolink:PhenotypicFeature	Abnormality of pancreas physiology	An anomaly of the function of the pancreas.	UMLS:C4023048	hp.json		http://purl.obolibrary.org/obo/HP_0012091							
HP:0012092	biolink:PhenotypicFeature	Abnormality of exocrine pancreas physiology	A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.	UMLS:C4021103	hp.json	Abnormal exocrine pancreatic function	http://purl.obolibrary.org/obo/HP_0012092							
HP:0012093	biolink:PhenotypicFeature	Abnormality of endocrine pancreas physiology	A function abnormality of the endocrine pancreas.	UMLS:C4023047	hp.json		http://purl.obolibrary.org/obo/HP_0012093							
HP:0012094	biolink:PhenotypicFeature	Abnormal pancreas size	A deviation from the normal size of the pancreas.	UMLS:C4023046	hp.json	Abnormal pancreas size	http://purl.obolibrary.org/obo/HP_0012094							
HP:0012095	biolink:PhenotypicFeature	Multiple joint dislocation	Dislocation of many joints.	SNOMEDCT_US:287096003|SNOMEDCT_US:34277002|UMLS:C0332792	hp.json	Multiple joint dislocations	http://purl.obolibrary.org/obo/HP_0012095							
HP:0012096	biolink:PhenotypicFeature	Intracranial epidermoid cyst	A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.	UMLS:C4023045	hp.json		http://purl.obolibrary.org/obo/HP_0012096							
HP:0012097	biolink:PhenotypicFeature	Intracranial dermoid cyst	A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.	UMLS:C4023044	hp.json		http://purl.obolibrary.org/obo/HP_0012097							
HP:0012098	biolink:PhenotypicFeature	Edema of the dorsum of feet	An abnormal accumulation of fluid beneath the skin on the back of the feet.	SNOMEDCT_US:445124008|UMLS:C2919341	hp.json	Oedema of dorsum of feet|Oedema of the dorsum of feet|Edema of dorsum of feet	http://purl.obolibrary.org/obo/HP_0012098							
HP:0012099	biolink:PhenotypicFeature	Abnormality of circulating catecholamine level	An abnormal catecholamine concentration in the blood.	UMLS:C4021102	hp.json	Catecholamine levels abnormal	http://purl.obolibrary.org/obo/HP_0012099							
HP:0012100	biolink:PhenotypicFeature	Abnormal circulating creatinine concentration	An abnormal concentration of creatinine in the blood.	UMLS:C4021101	hp.json	Abnormal blood creatinine level|Creatinine levels abnormal|Abnormal circulating creatinine level	http://purl.obolibrary.org/obo/HP_0012100							
HP:0012101	biolink:PhenotypicFeature	Decreased serum creatinine	An abnormally reduced amount of creatinine in the blood.	SNOMEDCT_US:166715006|UMLS:C0428282	hp.json	Decreased serum creatinine|Low blood creatinine level|Reduced creatinine levels	http://purl.obolibrary.org/obo/HP_0012101							
HP:0012102	biolink:PhenotypicFeature	Abnormal mitochondrial number	A deviation from the normal number of mitochondria per cell.	UMLS:C4023043	hp.json		http://purl.obolibrary.org/obo/HP_0012102							
HP:0012103	biolink:PhenotypicFeature	Abnormality of the mitochondrion	An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.	UMLS:C4020732|UMLS:C4023042	hp.json	Mitochondrial abnormalities	http://purl.obolibrary.org/obo/HP_0012103							
HP:0012104	biolink:PhenotypicFeature	Parietal cortical atrophy	Atrophy of the parietal cortex.	UMLS:C4023041	hp.json		http://purl.obolibrary.org/obo/HP_0012104							
HP:0012105	biolink:PhenotypicFeature	Occipital cortical atrophy	Atrophy of the occipital cortex.	UMLS:C4023040	hp.json		http://purl.obolibrary.org/obo/HP_0012105							
HP:0012106	biolink:PhenotypicFeature	Rhizomelic leg shortening	Disproportionate shortening of the proximal segment of the leg (i.e. the femur).	UMLS:C4023039	hp.json		http://purl.obolibrary.org/obo/HP_0012106							
HP:0012107	biolink:PhenotypicFeature	Increased fibular diameter	Increased width of the cross sectional diameter of the fibula.	UMLS:C4021100	hp.json	Wide calf bone|Thick fibula|Thick fibulae|Wide fibula	http://purl.obolibrary.org/obo/HP_0012107							
HP:0012108	biolink:PhenotypicFeature	Open angle glaucoma	A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,	MSH:C562750|SNOMEDCT_US:77075001|UMLS:C0339573	hp.json	Primary open angle glaucoma	http://purl.obolibrary.org/obo/HP_0012108							
HP:0012109	biolink:PhenotypicFeature	Angle closure glaucoma	A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).	SNOMEDCT_US:392288006|UMLS:C0017606	hp.json	Primary angle closure glaucoma	http://purl.obolibrary.org/obo/HP_0012109							
HP:0012110	biolink:PhenotypicFeature	Hypoplasia of the pons	Underdevelopment of the pons.	UMLS:C1848529	hp.json	Pontine hypoplasia	http://purl.obolibrary.org/obo/HP_0012110							
HP:0012111	biolink:PhenotypicFeature	Abnormality of circulating glucocorticoid level	An abnormality of the concentration of a glucocorticoid in the blood.	UMLS:C4023038	hp.json		http://purl.obolibrary.org/obo/HP_0012111							
HP:0012112	biolink:PhenotypicFeature	Abnormal circulating corticosterone level	An abnormality of the concentration of corticosterone in the blood.	UMLS:C4023037	hp.json	Abnormality of circulating corticosterone level	http://purl.obolibrary.org/obo/HP_0012112							
HP:0012113	biolink:PhenotypicFeature	Abnormal circulating creatine concentration	A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.	UMLS:C4020731	hp.json	Abnormality of creatine metabolism|Creatine metabolism abnormal	http://purl.obolibrary.org/obo/HP_0012113							
HP:0012114	biolink:PhenotypicFeature	Endometrial carcinoma	A carcinoma of the endometrium, the mucous lining of the uterus.	MSH:D016889|SNOMEDCT_US:254878006|UMLS:C0476089	hp.json		http://purl.obolibrary.org/obo/HP_0012114							
HP:0012115	biolink:PhenotypicFeature	Hepatitis	Inflammation of the liver.	MSH:D006505|SNOMEDCT_US:128241005|UMLS:C0019158	hp.json	Liver inflammation	http://purl.obolibrary.org/obo/HP_0012115							
HP:0012116	biolink:PhenotypicFeature	Abnormal circulating albumin concentration	Deviation from normal concentration of albumin in the blood.	UMLS:C4023036	hp.json	Abnormal albumin level	http://purl.obolibrary.org/obo/HP_0012116							
HP:0012117	biolink:PhenotypicFeature	Hyperalbuminemia	Elevation in the concentration of albumin in the blood.	SNOMEDCT_US:119248009|UMLS:C1142113	hp.json	High albumin|High blood albumin levels|Hyperalbuminaemia	http://purl.obolibrary.org/obo/HP_0012117							
HP:0012118	biolink:PhenotypicFeature	Laryngeal carcinoma	A carcinoma of the larynx.	SNOMEDCT_US:276975007|UMLS:C0595989	hp.json	Cancer of the larynx|Laryngeal cancer	http://purl.obolibrary.org/obo/HP_0012118							
HP:0012119	biolink:PhenotypicFeature	Methemoglobinemia	Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.	MSH:D008708|SNOMEDCT_US:131171006|SNOMEDCT_US:38959009|UMLS:C0025637	hp.json		http://purl.obolibrary.org/obo/HP_0012119							
HP:0012120	biolink:PhenotypicFeature	Methylmalonic aciduria	Increased concentration of methylmalonic acid in the urine.	MSH:C537358|UMLS:C1855119	hp.json	High blood methylmalonic acid levels|Methymalonicaciduria	http://purl.obolibrary.org/obo/HP_0012120							
HP:0012121	biolink:PhenotypicFeature	Panuveitis	Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.	MSH:D015864|SNOMEDCT_US:75614007|UMLS:C0030343	hp.json		http://purl.obolibrary.org/obo/HP_0012121							
HP:0012122	biolink:PhenotypicFeature	Anterior uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.	SNOMEDCT_US:4927003|UMLS:C0701807	hp.json		http://purl.obolibrary.org/obo/HP_0012122							
HP:0012123	biolink:PhenotypicFeature	Posterior uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.	MSH:D002833|MSH:D015866|SNOMEDCT_US:16553002|SNOMEDCT_US:43363007|UMLS:C0008526|UMLS:C0042167	hp.json	Choroiditis	http://purl.obolibrary.org/obo/HP_0012123							
HP:0012124	biolink:PhenotypicFeature	Intermediate uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.	MSH:D015867|SNOMEDCT_US:314429009|UMLS:C0042166	hp.json		http://purl.obolibrary.org/obo/HP_0012124							
HP:0012125	biolink:PhenotypicFeature	Prostate cancer	A cancer of the prostate.	MSH:D011471|SNOMEDCT_US:399068003|UMLS:C0376358	hp.json	Prostatic cancer	http://purl.obolibrary.org/obo/HP_0012125							
HP:0012126	biolink:PhenotypicFeature	Stomach cancer	A cancer arising in any part of the stomach.	SNOMEDCT_US:372143007|UMLS:C0699791	hp.json	Gastric cancer	http://purl.obolibrary.org/obo/HP_0012126							
HP:0012127	biolink:PhenotypicFeature	Uraciluria	Increased concentration of uracil in the urine.	UMLS:C4021833	hp.json	High urine uracil levels	http://purl.obolibrary.org/obo/HP_0012127							
HP:0012128	biolink:PhenotypicFeature	Basal ganglia necrosis	Death of cells in the basal ganglia.	UMLS:C4023035	hp.json		http://purl.obolibrary.org/obo/HP_0012128							
HP:0012129	biolink:PhenotypicFeature	Abnormality of bone marrow stromal cells		UMLS:C4023034	hp.json		http://purl.obolibrary.org/obo/HP_0012129							
HP:0012130	biolink:PhenotypicFeature	Abnormal erythroid lineage cell morphology	An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.	UMLS:C4020862	hp.json	Abnormality of cells of the erythroid lineage	http://purl.obolibrary.org/obo/HP_0012130							
HP:0012131	biolink:PhenotypicFeature	Abnormal number of erythroid precursors	A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	UMLS:C4023033	hp.json		http://purl.obolibrary.org/obo/HP_0012131							
HP:0012132	biolink:PhenotypicFeature	Erythroid hyperplasia	Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	UMLS:C0014800|UMLS:C1838111|UMLS:C3552917	hp.json	Bone marrow biopsy shows erythroid hyperplasia|Bone marrow smear shows erythroid hyperplasia	http://purl.obolibrary.org/obo/HP_0012132							
HP:0012133	biolink:PhenotypicFeature	Erythroid hypoplasia	Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416|UMLS:C0542035	hp.json	Erythroblastopenia|Erythroid hypoplasia in the bone marrow	http://purl.obolibrary.org/obo/HP_0012133							
HP:0012134	biolink:PhenotypicFeature	Dysplastic erythropoesis		UMLS:C4023032	hp.json		http://purl.obolibrary.org/obo/HP_0012134							
HP:0012135	biolink:PhenotypicFeature	Abnormal granulocytopoietic cell morphology	An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.	UMLS:C4023031	hp.json	Abnormality of cells of the granulocytic lineage	http://purl.obolibrary.org/obo/HP_0012135							
HP:0012136	biolink:PhenotypicFeature	Dysplastic granulopoesis		UMLS:C4023030	hp.json		http://purl.obolibrary.org/obo/HP_0012136							
HP:0012137	biolink:PhenotypicFeature	Abnormal number of granulocyte precursors		UMLS:C4023029	hp.json		http://purl.obolibrary.org/obo/HP_0012137							
HP:0012138	biolink:PhenotypicFeature	Granulocytic hyperplasia		UMLS:C4023028	hp.json		http://purl.obolibrary.org/obo/HP_0012138							
HP:0012139	biolink:PhenotypicFeature	Granulocytic hypoplasia	Decreased number of granulocyte precursors in the bone marrow.	SNOMEDCT_US:416627004|UMLS:C1534864	hp.json		http://purl.obolibrary.org/obo/HP_0012139							
HP:0012140	biolink:PhenotypicFeature	obsolete Abnormality of cells of the lymphoid lineage			hp.json		http://purl.obolibrary.org/obo/HP_0012140							
HP:0012142	biolink:PhenotypicFeature	Pancreatic squamous cell carcinoma	A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.	UMLS:C2675993	hp.json	Squamous cell carcinoma of the pancreas	http://purl.obolibrary.org/obo/HP_0012142							
HP:0012143	biolink:PhenotypicFeature	Abnormal megakaryocyte morphology	Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.	UMLS:C4023026	hp.json	Abnormality of cells of the megakaryocyte lineage	http://purl.obolibrary.org/obo/HP_0012143							
HP:0012144	biolink:PhenotypicFeature	Abnormal monocyte morphology	Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.	UMLS:C4023025	hp.json		http://purl.obolibrary.org/obo/HP_0012144							
HP:0012145	biolink:PhenotypicFeature	Abnormality of multiple cell lineages in the bone marrow		UMLS:C4023024	hp.json		http://purl.obolibrary.org/obo/HP_0012145							
HP:0012146	biolink:PhenotypicFeature	Abnormality of von Willebrand factor	Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.	UMLS:C4023023	hp.json		http://purl.obolibrary.org/obo/HP_0012146							
HP:0012147	biolink:PhenotypicFeature	Reduced quantity of Von Willebrand factor	Decreased quantity of von Willebrand factor.	UMLS:C1841816|UMLS:C4023022	hp.json	Decreased von Willebrand factor	http://purl.obolibrary.org/obo/HP_0012147							
HP:0012148	biolink:PhenotypicFeature	Multiple lineage myelodysplasia	Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.	UMLS:C4023021	hp.json		http://purl.obolibrary.org/obo/HP_0012148							
HP:0012149	biolink:PhenotypicFeature	Bilineage myelodysplasia	Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.	UMLS:C4023020	hp.json		http://purl.obolibrary.org/obo/HP_0012149							
HP:0012150	biolink:PhenotypicFeature	Single lineage myelodysplasia	Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).	UMLS:C4023019	hp.json		http://purl.obolibrary.org/obo/HP_0012150							
HP:0012151	biolink:PhenotypicFeature	Hemothorax	The presence of blood in the pleural space.	MSH:D006491|SNOMEDCT_US:31892009|UMLS:C0019123	hp.json		http://purl.obolibrary.org/obo/HP_0012151							
HP:0012152	biolink:PhenotypicFeature	Foveoschisis	Splitting of the retinal layers in the macula.	UMLS:C2674407	hp.json	Retinoschisis involving the fovea	http://purl.obolibrary.org/obo/HP_0012152							
HP:0012153	biolink:PhenotypicFeature	Hypotriglyceridemia	An decrease in the level of triglycerides in the blood.	UMLS:C0542037	hp.json	Decreased circulating Tg levels|Decreased plasma Tg levels|Low blood triglyceride levels	http://purl.obolibrary.org/obo/HP_0012153							
HP:0012154	biolink:PhenotypicFeature	Anhedonia	Inability to experience pleasure activities usually found enjoyable.	MSH:D059445|SNOMEDCT_US:247796005|SNOMEDCT_US:28669007|UMLS:C0178417	hp.json		http://purl.obolibrary.org/obo/HP_0012154							
HP:0012155	biolink:PhenotypicFeature	Decreased corneal sensation	Reduced ability of the cornea to respond to stimulation.	SNOMEDCT_US:373433005|UMLS:C0271292|UMLS:C0859996	hp.json	Corneal hypaesthesia|Corneal hypesthesia|Reduced corneal sensation|Decreased corneal sensitivity	http://purl.obolibrary.org/obo/HP_0012155							
HP:0012156	biolink:PhenotypicFeature	Hemophagocytosis	Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.	SNOMEDCT_US:61070002|UMLS:C0876991	hp.json		http://purl.obolibrary.org/obo/HP_0012156							
HP:0012157	biolink:PhenotypicFeature	Subcortical cerebral atrophy	Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.	UMLS:C4023018	hp.json		http://purl.obolibrary.org/obo/HP_0012157							
HP:0012158	biolink:PhenotypicFeature	Carotid artery dissection	A separation (dissection) of the layers of the carotid artery wall.	UMLS:C0338585	hp.json		http://purl.obolibrary.org/obo/HP_0012158							
HP:0012159	biolink:PhenotypicFeature	Internal carotid artery dissection	A separation (dissection) of the layers of the internal carotid artery wall.	MSH:D020215|SNOMEDCT_US:705066004|UMLS:C0751815	hp.json		http://purl.obolibrary.org/obo/HP_0012159							
HP:0012160	biolink:PhenotypicFeature	Intracranial internal carotid artery dissection	A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.	UMLS:C4023017	hp.json		http://purl.obolibrary.org/obo/HP_0012160							
HP:0012161	biolink:PhenotypicFeature	External carotid artery dissection	A separation (dissection) of the layers of the external carotid artery wall.	UMLS:C4023016	hp.json		http://purl.obolibrary.org/obo/HP_0012161							
HP:0012162	biolink:PhenotypicFeature	Common carotid artery dissection	A separation (dissection) of the layers of the common carotid artery wall.	UMLS:C4023015	hp.json		http://purl.obolibrary.org/obo/HP_0012162							
HP:0012163	biolink:PhenotypicFeature	Carotid artery dilatation	A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.	SNOMEDCT_US:233988005|UMLS:C0340639	hp.json	Carotid artery aneurysm	http://purl.obolibrary.org/obo/HP_0012163							
HP:0012164	biolink:PhenotypicFeature	Asterixis	A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.	MSH:D020820|SNOMEDCT_US:32838008|UMLS:C0232766	hp.json		http://purl.obolibrary.org/obo/HP_0012164							
HP:0012165	biolink:PhenotypicFeature	Oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of digits.	UMLS:C3887496	hp.json		http://purl.obolibrary.org/obo/HP_0012165							
HP:0012166	biolink:PhenotypicFeature	Skin-picking	Repetitive and compulsive picking of skin which results in tissue damage.	ICD-10:F63.3|UMLS:C1696701	hp.json	Compulsive skin picking|Dermatillomania	http://purl.obolibrary.org/obo/HP_0012166							
HP:0012167	biolink:PhenotypicFeature	Hair-pulling	A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.	MSH:D014256|SNOMEDCT_US:17155009|UMLS:C0040953	hp.json	Trichotillomania	http://purl.obolibrary.org/obo/HP_0012167							
HP:0012168	biolink:PhenotypicFeature	Head-banging	Habitual striking of one's own head against a surface such as a mattress or wall of a crib.	MSH:D019956|SNOMEDCT_US:43954004|UMLS:C0018672	hp.json	Head-banging	http://purl.obolibrary.org/obo/HP_0012168							
HP:0012169	biolink:PhenotypicFeature	Self-biting	Habitual biting of one's own body.	SNOMEDCT_US:248072009|UMLS:C0424375	hp.json		http://purl.obolibrary.org/obo/HP_0012169							
HP:0012170	biolink:PhenotypicFeature	Nail-biting	Habitual biting of one's own fingernails.	ICD-10:F98.8|MSH:D009259|SNOMEDCT_US:37298006|UMLS:C0027338	hp.json	Nail-biting|Onychophagia|Onychophagy	http://purl.obolibrary.org/obo/HP_0012170							
HP:0012171	biolink:PhenotypicFeature	Stereotypical hand wringing	Habitual clasping and squeezing of the hands.	UMLS:C4023014	hp.json		http://purl.obolibrary.org/obo/HP_0012171							
HP:0012172	biolink:PhenotypicFeature	Stereotypical body rocking	Habitual repetitive movement of the body.	UMLS:C4023013	hp.json		http://purl.obolibrary.org/obo/HP_0012172							
HP:0012173	biolink:PhenotypicFeature	Orthostatic tachycardia	An increase in heart rate with standing of 30 beats per minute or more.	UMLS:C4021099	hp.json	Postural tachycardia	http://purl.obolibrary.org/obo/HP_0012173							
HP:0012174	biolink:PhenotypicFeature	Glioblastoma multiforme	A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.	MSH:D005909|SNOMEDCT_US:393563007|SNOMEDCT_US:63634009|UMLS:C1621958	hp.json	Glioblastoma	http://purl.obolibrary.org/obo/HP_0012174							
HP:0012175	biolink:PhenotypicFeature	Resistance to activated protein C	Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.	MSH:D020016|SNOMEDCT_US:421527008|UMLS:C0600433	hp.json	Activated protein C resistance	http://purl.obolibrary.org/obo/HP_0012175							
HP:0012176	biolink:PhenotypicFeature	Abnormal natural killer cell morphology	An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.	UMLS:C4021098	hp.json	Abnormal NK cells|Abnormality of natural killer cells	http://purl.obolibrary.org/obo/HP_0012176							
HP:0012177	biolink:PhenotypicFeature	Abnormal natural killer cell physiology	A functional anomaly of the natural killer cell.	UMLS:C4023012	hp.json		http://purl.obolibrary.org/obo/HP_0012177							
HP:0012178	biolink:PhenotypicFeature	Reduced natural killer cell activity	Reduced ability of the natural killer cell to function in the adaptive immune response.	UMLS:C1839969	hp.json		http://purl.obolibrary.org/obo/HP_0012178							
HP:0012179	biolink:PhenotypicFeature	Craniofacial dystonia	A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.	UMLS:C1851915|UMLS:C4023011|UMLS:C4072883	hp.json	Abnormal craniofacial posture|Distorted craniofacial posture|Abnormal craniofacial muscle tone|Abnormal facial muscle tone|Facial Dystonia	http://purl.obolibrary.org/obo/HP_0012179							
HP:0012180	biolink:PhenotypicFeature	Cystic medial necrosis	A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.	MSH:C536230|SNOMEDCT_US:234021009|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|UMLS:C0392775	hp.json	Arterial cystic medial necrosis	http://purl.obolibrary.org/obo/HP_0012180							
HP:0012181	biolink:PhenotypicFeature	Entrapment neuropathy	Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.	MSH:D009408|SNOMEDCT_US:45781009|UMLS:C1510429	hp.json		http://purl.obolibrary.org/obo/HP_0012181							
HP:0012182	biolink:PhenotypicFeature	Oropharyngeal squamous cell carcinoma	A squamous cell carcinoma that originates in the oropharnyx.	SNOMEDCT_US:423464009|SNOMEDCT_US:707585008|UMLS:C0280313	hp.json		http://purl.obolibrary.org/obo/HP_0012182							
HP:0012183	biolink:PhenotypicFeature	Hyperplastic colonic polyposis	Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.	UMLS:C4023010	hp.json		http://purl.obolibrary.org/obo/HP_0012183							
HP:0012184	biolink:PhenotypicFeature	Increased HDL cholesterol concentration	An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.	MSH:C564591|SNOMEDCT_US:238080004|UMLS:C0342883	hp.json	High blood HDL level|Hyperalphalipoproteinemia|Increased circulating high-density lipoprotein levels	http://purl.obolibrary.org/obo/HP_0012184							
HP:0012185	biolink:PhenotypicFeature	Constrictive median neuropathy	Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.	UMLS:C4023009	hp.json	Carpal tunnel syndrome	http://purl.obolibrary.org/obo/HP_0012185							
HP:0012186	biolink:PhenotypicFeature	Entrapment neuropathy of the ulnar nerve at elbow	An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.	UMLS:C4023008	hp.json		http://purl.obolibrary.org/obo/HP_0012186							
HP:0012187	biolink:PhenotypicFeature	Increased erythrocyte protoporphyrin concentration	An increased concentration of protoporphyrins in erythrocytes.	UMLS:C4023007	hp.json		http://purl.obolibrary.org/obo/HP_0012187							
HP:0012188	biolink:PhenotypicFeature	Hyperemesis gravidarum	Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.	MSH:D006939|SNOMEDCT_US:14094001|UMLS:C0020450	hp.json		http://purl.obolibrary.org/obo/HP_0012188							
HP:0012189	biolink:PhenotypicFeature	Hodgkin lymphoma	A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.	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	hp.json	Hodgkin disease|Hodgkin's lymphoma	http://purl.obolibrary.org/obo/HP_0012189							
HP:0012190	biolink:PhenotypicFeature	T-cell lymphoma	A type of lymphoma that originates in T-cells.	MSH:D016399|SNOMEDCT_US:109978004|SNOMEDCT_US:3172003|UMLS:C0079772	hp.json	T cell lymphoma	http://purl.obolibrary.org/obo/HP_0012190							
HP:0012191	biolink:PhenotypicFeature	B-cell lymphoma	A type of lymphoma that originates in B-cells.	MSH:D016393|SNOMEDCT_US:109979007|SNOMEDCT_US:1929004|SNOMEDCT_US:413616009|UMLS:C0079731	hp.json	B cell lymphoma	http://purl.obolibrary.org/obo/HP_0012191							
HP:0012192	biolink:PhenotypicFeature	Cutaneous T-cell lymphoma	A type of T-cell lymphoma that exhibits malignant infiltration of the skin.	MSH:D016410|SNOMEDCT_US:28054005|SNOMEDCT_US:400122007|UMLS:C0079773	hp.json		http://purl.obolibrary.org/obo/HP_0012192							
HP:0012193	biolink:PhenotypicFeature	Anaplastic large-cell lymphoma	A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.	MSH:D017728|SNOMEDCT_US:277637000|SNOMEDCT_US:53237008|UMLS:C0206180	hp.json		http://purl.obolibrary.org/obo/HP_0012193							
HP:0012194	biolink:PhenotypicFeature	Episodic hemiplegia	Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.	UMLS:C1863061	hp.json		http://purl.obolibrary.org/obo/HP_0012194							
HP:0012195	biolink:PhenotypicFeature	Irregular respiration	Uneven rhythm of breathing.	SNOMEDCT_US:248585001|UMLS:C0425492	hp.json	Irregular respiratory rhythm	http://purl.obolibrary.org/obo/HP_0012195							
HP:0012196	biolink:PhenotypicFeature	Cheyne-Stokes respiration	An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.	MSH:D002639|SNOMEDCT_US:271824009|SNOMEDCT_US:309155007|UMLS:C0008039|UMLS:C1313952	hp.json	Cheyne-Stokes breathing|Periodic respiration	http://purl.obolibrary.org/obo/HP_0012196							
HP:0012197	biolink:PhenotypicFeature	Insulinoma	A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.	MSH:D007340|SNOMEDCT_US:25324008|SNOMEDCT_US:302822000|UMLS:C0021670	hp.json	Pancreatic insulinoma	http://purl.obolibrary.org/obo/HP_0012197							
HP:0012198	biolink:PhenotypicFeature	Juvenile colonic polyposis	The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.	UMLS:C4023006	hp.json		http://purl.obolibrary.org/obo/HP_0012198							
HP:0012199	biolink:PhenotypicFeature	Cluster headache	A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.	ICD-10:G44.0|MSH:D003027|SNOMEDCT_US:193031009|SNOMEDCT_US:193947008|SNOMEDCT_US:230473009|UMLS:C0009088	hp.json		http://purl.obolibrary.org/obo/HP_0012199							
HP:0012200	biolink:PhenotypicFeature	Abnormality of prothrombin	An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.	UMLS:C4023005	hp.json		http://purl.obolibrary.org/obo/HP_0012200							
HP:0012201	biolink:PhenotypicFeature	obsolete Reduced prothrombin activity			hp.json		http://purl.obolibrary.org/obo/HP_0012201							
HP:0012202	biolink:PhenotypicFeature	Increased serum bile acid concentration	An increase in the concentration of bile acid in the blood.	UMLS:C4023004	hp.json		http://purl.obolibrary.org/obo/HP_0012202							
HP:0012203	biolink:PhenotypicFeature	Onychomycosis	A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.	MSH:D014009|SNOMEDCT_US:414941008|UMLS:C0040261	hp.json		http://purl.obolibrary.org/obo/HP_0012203							
HP:0012204	biolink:PhenotypicFeature	Recurrent vulvovaginal candidiasis	Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.	UMLS:C4023003	hp.json		http://purl.obolibrary.org/obo/HP_0012204							
HP:0012205	biolink:PhenotypicFeature	Globozoospermia	Any structural anomaly of the acrosome resulting in a round sperm head.	MSH:D000072660|SNOMEDCT_US:236818008|UMLS:C0403825	hp.json		http://purl.obolibrary.org/obo/HP_0012205							
HP:0012206	biolink:PhenotypicFeature	Abnormal sperm motility	An anomaly of the mobility of ejaculated sperm.	UMLS:C0855512	hp.json	Abnormal sperm motility	http://purl.obolibrary.org/obo/HP_0012206							
HP:0012207	biolink:PhenotypicFeature	Reduced sperm motility	An abnormal reduction in the mobility of ejaculated sperm.	UMLS:C4023002	hp.json	Reduced sperm motility|Asthenospermia	http://purl.obolibrary.org/obo/HP_0012207							
HP:0012208	biolink:PhenotypicFeature	Immotile sperm	A lack of mobility of ejaculated sperm.	UMLS:C4023001	hp.json	Nonmotile sperm	http://purl.obolibrary.org/obo/HP_0012208							
HP:0012209	biolink:PhenotypicFeature	Juvenile myelomonocytic leukemia	Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.	MSH:D054429|SNOMEDCT_US:128832006|SNOMEDCT_US:277587001|SNOMEDCT_US:445227008|UMLS:C0349639	hp.json	Juvenile myelomonocytic leukaemia	http://purl.obolibrary.org/obo/HP_0012209							
HP:0012210	biolink:PhenotypicFeature	Abnormal renal morphology	Any structural anomaly of the kidney.	Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292	hp.json	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							
HP:0012211	biolink:PhenotypicFeature	Abnormal renal physiology	An abnormal functionality of the kidney.	SNOMEDCT_US:39539005|UMLS:C0151746	hp.json	Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality	http://purl.obolibrary.org/obo/HP_0012211							
HP:0012212	biolink:PhenotypicFeature	Abnormal glomerular filtration rate	An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	UMLS:C0854050	hp.json	Abnormal GFR	http://purl.obolibrary.org/obo/HP_0012212							
HP:0012213	biolink:PhenotypicFeature	Decreased glomerular filtration rate	An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	UMLS:C0853068	hp.json	Decreased GFR|Impaired renal creatinine clearance|Reduced creatinine clearance	http://purl.obolibrary.org/obo/HP_0012213							
HP:0012214	biolink:PhenotypicFeature	Increased glomerular filtration rate	An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	UMLS:C0856948	hp.json	Increased GFR	http://purl.obolibrary.org/obo/HP_0012214							
HP:0012215	biolink:PhenotypicFeature	Testicular microlithiasis	The deposition of calcium phosphate microliths within the seminiferous tubules.	MSH:C566478|SNOMEDCT_US:117261000119108|UMLS:C1864873	hp.json		http://purl.obolibrary.org/obo/HP_0012215							
HP:0012216	biolink:PhenotypicFeature	Entrapment neuropathy of suprascapular nerve	An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.	SNOMEDCT_US:230635000|UMLS:C0393890	hp.json	Suprascapular nerve entrapment	http://purl.obolibrary.org/obo/HP_0012216							
HP:0012217	biolink:PhenotypicFeature	Increased urinary porphobilinogen	Increased concentration of porphobilinogen in the urine.	UMLS:C4023000	hp.json		http://purl.obolibrary.org/obo/HP_0012217							
HP:0012218	biolink:PhenotypicFeature	Alveolar soft part sarcoma	A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.	MSH:D018234|SNOMEDCT_US:404056007|SNOMEDCT_US:88195001|UMLS:C0206657	hp.json		http://purl.obolibrary.org/obo/HP_0012218							
HP:0012219	biolink:PhenotypicFeature	Erythema nodosum	An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.	MSH:D004893|SNOMEDCT_US:32861005|UMLS:C0014743	hp.json		http://purl.obolibrary.org/obo/HP_0012219							
HP:0012220	biolink:PhenotypicFeature	Non-caseating epithelioid cell granulomatosis	The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).	UMLS:C4022999	hp.json		http://purl.obolibrary.org/obo/HP_0012220							
HP:0012221	biolink:PhenotypicFeature	Pretibial blistering	A type of blistering that affects the skin of the tibial region.	MSH:C535494|SNOMEDCT_US:67653003|UMLS:C0432321	hp.json	Pretibial epidermolysis bullosa	http://purl.obolibrary.org/obo/HP_0012221							
HP:0012222	biolink:PhenotypicFeature	Arachnoid hemangiomatosis	The presence of multiple hemangiomas in the arachnoid.	UMLS:C4022998	hp.json		http://purl.obolibrary.org/obo/HP_0012222							
HP:0012223	biolink:PhenotypicFeature	Splenic rupture	A breach of the capsule of the spleen.	MSH:D013161|SNOMEDCT_US:234506007|UMLS:C0038000	hp.json	Ruptured spleen|Splenic rupture	http://purl.obolibrary.org/obo/HP_0012223							
HP:0012224	biolink:PhenotypicFeature	Circulating immune complexes	Persistence of immune complexes in the blood circulation.	UMLS:C3887628	hp.json		http://purl.obolibrary.org/obo/HP_0012224							
HP:0012225	biolink:PhenotypicFeature	Oligodontia of primary teeth	Reduced number of primary teeth.	UMLS:C4022997|UMLS:C4280316	hp.json	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							
HP:0012226	biolink:PhenotypicFeature	Ovarian teratoma	The presence of a teratoma in the ovary.	NCIT:C3403|SNOMEDCT_US:716077006|UMLS:C0280131	hp.json		http://purl.obolibrary.org/obo/HP_0012226							
HP:0012227	biolink:PhenotypicFeature	Urethral stricture	Narrowing of the urethra associated with inflammation or scar tissue.	MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974	hp.json		http://purl.obolibrary.org/obo/HP_0012227							
HP:0012228	biolink:PhenotypicFeature	Tension-type headache	A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.	ICD-10:G44.2|MSH:D018781|SNOMEDCT_US:398057008|SNOMEDCT_US:66551002|UMLS:C0033893	hp.json	Tension-type headache	http://purl.obolibrary.org/obo/HP_0012228							
HP:0012229	biolink:PhenotypicFeature	CSF pleocytosis	An increased white blood cell count in the cerebrospinal fluid.	MSH:D007964|SNOMEDCT_US:91454002|UMLS:C0151857	hp.json	Cerebrospinal fluid pleocytosis|Increased leukocyte count in CSF	http://purl.obolibrary.org/obo/HP_0012229							
HP:0012230	biolink:PhenotypicFeature	Rhegmatogenous retinal detachment	A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.	SNOMEDCT_US:19620000|UMLS:C0271055	hp.json		http://purl.obolibrary.org/obo/HP_0012230							
HP:0012231	biolink:PhenotypicFeature	Exudative retinal detachment	A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.	SNOMEDCT_US:38599001|UMLS:C0154822	hp.json	Serous retinal detachment	http://purl.obolibrary.org/obo/HP_0012231							
HP:0012232	biolink:PhenotypicFeature	Shortened QT interval	Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	SNOMEDCT_US:77867006|UMLS:C0151879	hp.json		http://purl.obolibrary.org/obo/HP_0012232							
HP:0012233	biolink:PhenotypicFeature	Intramuscular hematoma	Blood clot formed within muscle tissue following leakage of blood into the tissue.	SNOMEDCT_US:262969000|UMLS:C0240412	hp.json	IM hematoma|Intramuscular haemorrhage|Intramuscular haematoma|Intramuscular hemorrhage|Intramuscular hematomas	http://purl.obolibrary.org/obo/HP_0012233							
HP:0012234	biolink:PhenotypicFeature	Agranulocytosis	Marked decrease in the number of granulocytes.	UMLS:C0702094	hp.json		http://purl.obolibrary.org/obo/HP_0012234							
HP:0012235	biolink:PhenotypicFeature	Drug-induced agranulocytosis	A type of agranulocytosis related to ingestion of a specific medication.	SNOMEDCT_US:47318007|UMLS:C0272178	hp.json		http://purl.obolibrary.org/obo/HP_0012235							
HP:0012236	biolink:PhenotypicFeature	Elevated sweat chloride	An increased concentration of chloride in the sweat.	UMLS:C1856646	hp.json	Elevated sweat Cl|Elevated sweat Cl-|Elevated sweat chloride	http://purl.obolibrary.org/obo/HP_0012236							
HP:0012237	biolink:PhenotypicFeature	Urocanic aciduria	An increased concentration of urocanic acid in the urine.	MSH:C536479|SNOMEDCT_US:60952007|UMLS:C0268514	hp.json	High urine urocanic acid levels	http://purl.obolibrary.org/obo/HP_0012237							
HP:0012238	biolink:PhenotypicFeature	Increased circulating chylomicron concentration	Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.	UMLS:C1535978	hp.json	Hyperchylomicronemia|Increased chylomicrons|Increased circulating chylomicron levels	http://purl.obolibrary.org/obo/HP_0012238							
HP:0012239	biolink:PhenotypicFeature	Atransferrinemia	Absence of transferrin, a protein that transports iron, in the blood.	MSH:C538259|SNOMEDCT_US:111571009|UMLS:C0521802	hp.json		http://purl.obolibrary.org/obo/HP_0012239							
HP:0012240	biolink:PhenotypicFeature	Increased intramyocellular lipid droplets	An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.	UMLS:C4020730	hp.json	Increased muscle lipid droplets	http://purl.obolibrary.org/obo/HP_0012240							
HP:0012241	biolink:PhenotypicFeature	Levator palpebrae superioris atrophy	Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.	UMLS:C1851107	hp.json		http://purl.obolibrary.org/obo/HP_0012241							
HP:0012242	biolink:PhenotypicFeature	Superior rectus atrophy	Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.	UMLS:C1851108	hp.json	Rectus superior atrophy	http://purl.obolibrary.org/obo/HP_0012242							
HP:0012243	biolink:PhenotypicFeature	Abnormal reproductive system morphology	A structural or developmental anomaly of any of the tissues involved in the genital system.	UMLS:C4021096	hp.json	Abnormal genital system morphology	http://purl.obolibrary.org/obo/HP_0012243							
HP:0012244	biolink:PhenotypicFeature	Abnormal sex determination	Anomaly of primary or secondary sexual development or characteristics.	UMLS:C4022996	hp.json		http://purl.obolibrary.org/obo/HP_0012244							
HP:0012245	biolink:PhenotypicFeature	Sex reversal	Development of the reproductive system is inconsistent with the chromosomal sex.	UMLS:C4022995	hp.json		http://purl.obolibrary.org/obo/HP_0012245							
HP:0012246	biolink:PhenotypicFeature	Oculomotor nerve palsy	Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).	MSH:D015840|SNOMEDCT_US:388980004|UMLS:C0028866	hp.json	Oculomotor neuropathy	http://purl.obolibrary.org/obo/HP_0012246							
HP:0012247	biolink:PhenotypicFeature	Specific anosmia	Anosmia for one particular odor.	UMLS:C4022994	hp.json		http://purl.obolibrary.org/obo/HP_0012247							
HP:0012248	biolink:PhenotypicFeature	Prolonged PR interval	Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).	SNOMEDCT_US:164947007|UMLS:C0600125	hp.json	Electrocardiographic long PR interval|Lengthened PR interval on EKG	http://purl.obolibrary.org/obo/HP_0012248							
HP:0012249	biolink:PhenotypicFeature	Abnormal ST segment	An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.	UMLS:C4022993	hp.json		http://purl.obolibrary.org/obo/HP_0012249							
HP:0012250	biolink:PhenotypicFeature	ST segment depression	An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.	SNOMEDCT_US:26141007|SNOMEDCT_US:429622005|UMLS:C0520887	hp.json		http://purl.obolibrary.org/obo/HP_0012250							
HP:0012251	biolink:PhenotypicFeature	ST segment elevation	An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.	SNOMEDCT_US:164931005|SNOMEDCT_US:76388001|UMLS:C0520886	hp.json		http://purl.obolibrary.org/obo/HP_0012251							
HP:0012252	biolink:PhenotypicFeature	Abnormal respiratory system morphology	A structural anomaly of the respiratory system.	Fyler:4235|UMLS:C4022992	hp.json		http://purl.obolibrary.org/obo/HP_0012252							
HP:0012253	biolink:PhenotypicFeature	Abnormal respiratory epithelium morphology	Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.	UMLS:C4022991	hp.json		http://purl.obolibrary.org/obo/HP_0012253							
HP:0012254	biolink:PhenotypicFeature	Ewing sarcoma	A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.	MSH:D012512|SNOMEDCT_US:76909002|UMLS:C0553580	hp.json	Ewing sarcoma|Ewing's sarcoma	http://purl.obolibrary.org/obo/HP_0012254							
HP:0012255	biolink:PhenotypicFeature	Dynein arm defect of respiratory motile cilia	An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.	UMLS:C4022990	hp.json		http://purl.obolibrary.org/obo/HP_0012255							
HP:0012256	biolink:PhenotypicFeature	Absent outer dynein arms	Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.	UMLS:C4022989	hp.json		http://purl.obolibrary.org/obo/HP_0012256							
HP:0012257	biolink:PhenotypicFeature	Absent inner dynein arms	Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.	UMLS:C4022988	hp.json		http://purl.obolibrary.org/obo/HP_0012257							
HP:0012258	biolink:PhenotypicFeature	Abnormal axonemal organization of respiratory motile cilia	Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.	UMLS:C4022987	hp.json	Abnormal axonemal organisation of respiratory motile cilia	http://purl.obolibrary.org/obo/HP_0012258							
HP:0012259	biolink:PhenotypicFeature	Absent inner and outer dynein arms	Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.	UMLS:C4022986	hp.json		http://purl.obolibrary.org/obo/HP_0012259							
HP:0012260	biolink:PhenotypicFeature	Abnormal central microtubular pair morphology of respiratory motile cilia	A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.	UMLS:C4022985	hp.json		http://purl.obolibrary.org/obo/HP_0012260							
HP:0012261	biolink:PhenotypicFeature	Abnormal respiratory motile cilium physiology	Any functional anomaly of the respiratory motile cilia.	UMLS:C4022984	hp.json		http://purl.obolibrary.org/obo/HP_0012261							
HP:0012262	biolink:PhenotypicFeature	Abnormal ciliary motility	Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.	UMLS:C4022983	hp.json		http://purl.obolibrary.org/obo/HP_0012262							
HP:0012263	biolink:PhenotypicFeature	Immotile cilia		UMLS:C1855672	hp.json		http://purl.obolibrary.org/obo/HP_0012263							
HP:0012264	biolink:PhenotypicFeature	Absent central microtubular pair morphology of respiratory motile cilia	Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.	UMLS:C4022982	hp.json		http://purl.obolibrary.org/obo/HP_0012264							
HP:0012265	biolink:PhenotypicFeature	Ciliary dyskinesia	A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.	MSH:D002925|SNOMEDCT_US:86204009|UMLS:C0008780	hp.json		http://purl.obolibrary.org/obo/HP_0012265							
HP:0012266	biolink:PhenotypicFeature	T-wave alternans	A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.	SNOMEDCT_US:428550008|UMLS:C1998313	hp.json		http://purl.obolibrary.org/obo/HP_0012266							
HP:0012267	biolink:PhenotypicFeature	Absent respiratory ciliary axoneme radial spokes	Absence of the radial spokes of the axoneme of the respiratory cilium.	UMLS:C4022981	hp.json		http://purl.obolibrary.org/obo/HP_0012267							
HP:0012268	biolink:PhenotypicFeature	Myxoid liposarcoma	A liposarcoma that contains myxomatous tissue.	MSH:D018208|SNOMEDCT_US:27849002|SNOMEDCT_US:404069006|UMLS:C0206634	hp.json		http://purl.obolibrary.org/obo/HP_0012268							
HP:0012269	biolink:PhenotypicFeature	Abnormal muscle glycogen content	Any anomaly in the amount of glycogen in muscle tissue.	UMLS:C4022980	hp.json		http://purl.obolibrary.org/obo/HP_0012269							
HP:0012270	biolink:PhenotypicFeature	Decreased muscle glycogen content	A decreased amount of glycogen in muscle tissue.	UMLS:C4022979	hp.json		http://purl.obolibrary.org/obo/HP_0012270							
HP:0012271	biolink:PhenotypicFeature	Episodic upper airway obstruction	Intermittent episodes of increased resistance to the passage of air in the upper airway.	UMLS:C4022978	hp.json		http://purl.obolibrary.org/obo/HP_0012271							
HP:0012272	biolink:PhenotypicFeature	J wave	The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.	UMLS:C4018858	hp.json	EKG J waves|Osborne waves	http://purl.obolibrary.org/obo/HP_0012272							
HP:0012273	biolink:PhenotypicFeature	Increased carotid artery intimal medial thickness	An increase in the combined thickness of the intima and media of the carotid artery.	UMLS:C4022977	hp.json		http://purl.obolibrary.org/obo/HP_0012273							
HP:0012274	biolink:PhenotypicFeature	Autosomal dominant inheritance with paternal imprinting	A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.	UMLS:C4022976	hp.json		http://purl.obolibrary.org/obo/HP_0012274							
HP:0012275	biolink:PhenotypicFeature	Autosomal dominant inheritance with maternal imprinting	A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.	UMLS:C4022975	hp.json		http://purl.obolibrary.org/obo/HP_0012275							
HP:0012276	biolink:PhenotypicFeature	Digital flexor tenosynovitis	Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.	UMLS:C4022974	hp.json	Trigger finger	http://purl.obolibrary.org/obo/HP_0012276							
HP:0012277	biolink:PhenotypicFeature	Hypoglycinemia	An abnormally reduced concentration of glycine in the blood.	UMLS:C4022973	hp.json	Low blood glycine levels	http://purl.obolibrary.org/obo/HP_0012277							
HP:0012278	biolink:PhenotypicFeature	Abnormal circulating serine concentration	Any deviation from the normal concentration of serine in the blood circulation.	UMLS:C4022972	hp.json		http://purl.obolibrary.org/obo/HP_0012278							
HP:0012279	biolink:PhenotypicFeature	Hyposerinemia	Reduced concentration of serine in the blood.	UMLS:C4022971	hp.json	Low blood serine levels	http://purl.obolibrary.org/obo/HP_0012279							
HP:0012280	biolink:PhenotypicFeature	Hepatic amyloidosis	A form of amyloidosis that affects the liver.	SNOMEDCT_US:9551004|UMLS:C0267839	hp.json		http://purl.obolibrary.org/obo/HP_0012280							
HP:0012281	biolink:PhenotypicFeature	Chylous ascites	Extravasation of chyle into the peritoneal cavity.	MSH:D002915|SNOMEDCT_US:52985009|UMLS:C0008732	hp.json	Chyloperitoneum	http://purl.obolibrary.org/obo/HP_0012281							
HP:0012282	biolink:PhenotypicFeature	Morbilliform rash	An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.	SNOMEDCT_US:247470007|SNOMEDCT_US:50495000|UMLS:C0234918	hp.json		http://purl.obolibrary.org/obo/HP_0012282							
HP:0012283	biolink:PhenotypicFeature	Small distal femoral epiphysis	Reduced size of the Distal epiphysis of femur.	UMLS:C4022970	hp.json	Small end part of outermost thighbone	http://purl.obolibrary.org/obo/HP_0012283							
HP:0012284	biolink:PhenotypicFeature	Small proximal tibial epiphyses	Reduced size of the proximal epiphysis of the tibia.	UMLS:C4022969	hp.json	Small end part of innermost shankbone|Small end part of innermost shinbone	http://purl.obolibrary.org/obo/HP_0012284							
HP:0012285	biolink:PhenotypicFeature	Abnormal hypothalamus physiology	An abnormal functionality of the hypothalamus.	UMLS:C4022968	hp.json		http://purl.obolibrary.org/obo/HP_0012285							
HP:0012286	biolink:PhenotypicFeature	Abnormal hypothalamus morphology	Any structural anomaly of the hypothalamus.	UMLS:C4021095	hp.json	Abnormal shape of hypothalamus|Abnormality of hypothalamus morphology|Abnormality of the hypothalamus	http://purl.obolibrary.org/obo/HP_0012286							
HP:0012287	biolink:PhenotypicFeature	Hypothalamic luteinizing hormone-releasing hormone deficiency	Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.	UMLS:C4022967	hp.json		http://purl.obolibrary.org/obo/HP_0012287							
HP:0012288	biolink:PhenotypicFeature	Neoplasm of head and neck	A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.	MSH:D006258|SNOMEDCT_US:255055008|SNOMEDCT_US:255056009|UMLS:C0018671|UMLS:C0278996	hp.json	Head and neck tumor|Head and neck tumour|Head and neck cancer	http://purl.obolibrary.org/obo/HP_0012288							
HP:0012289	biolink:PhenotypicFeature	Facial neoplasm	A tumor (abnormal growth of tissue) of the face.	MSH:D005153|NCIT:C3262|SNOMEDCT_US:126632002|UMLS:C0015461	hp.json	Face tumor|Face tumour	http://purl.obolibrary.org/obo/HP_0012289							
HP:0012290	biolink:PhenotypicFeature	Mouth neoplasm	A tumor (abnormal growth of tissue) of the mouth.	MSH:D009062|NCIT:C3262|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|UMLS:C0026640	hp.json	Mouth tumor|Mouth tumour|Lesion of mouth|Neoplasm of the mouth	http://purl.obolibrary.org/obo/HP_0012290							
HP:0012291	biolink:PhenotypicFeature	obsolete Tracheal neoplasm			hp.json		http://purl.obolibrary.org/obo/HP_0012291							
HP:0012292	biolink:PhenotypicFeature	Fusion of gums	A congenital defect with an abnormal joining of the gums of the upper and lower jaw.	UMLS:C4022966	hp.json	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							
HP:0012293	biolink:PhenotypicFeature	Abnormal genital pigmentation	An abnormal pigmentation pattern of the external genitalia.	UMLS:C4022965	hp.json		http://purl.obolibrary.org/obo/HP_0012293							
HP:0012294	biolink:PhenotypicFeature	Abnormal occipital bone morphology	Abnormality of the occipital bone of the skull.	UMLS:C4022964	hp.json	Abnormality of the occipital bone	http://purl.obolibrary.org/obo/HP_0012294							
HP:0012295	biolink:PhenotypicFeature	Slender middle phalanx of finger	Reduced diameter of the middle phalanx of finger.	UMLS:C4022963	hp.json	Slender middle bone of finger	http://purl.obolibrary.org/obo/HP_0012295							
HP:0012296	biolink:PhenotypicFeature	Slender distal phalanx of finger	Reduced diameter of the distal phalanx of finger.	UMLS:C4022962	hp.json	Slender outermost bone of finger	http://purl.obolibrary.org/obo/HP_0012296							
HP:0012297	biolink:PhenotypicFeature	Slender proximal phalanx of finger	Reduced diameter of the proximal phalanx of finger.	UMLS:C4022961	hp.json	Slender innermost bone of finger	http://purl.obolibrary.org/obo/HP_0012297							
HP:0012298	biolink:PhenotypicFeature	Long middle phalanx of finger	Increased length of the middle phalanx of finger.	UMLS:C4022960	hp.json	Long middle bone of finger	http://purl.obolibrary.org/obo/HP_0012298							
HP:0012299	biolink:PhenotypicFeature	Long distal phalanx of finger	Increased length of the distal phalanx of finger.	UMLS:C4021865	hp.json	Long outermost bone of finger	http://purl.obolibrary.org/obo/HP_0012299							
HP:0012300	biolink:PhenotypicFeature	Ureteral agenesis	Failure of the ureter to undergo development.	UMLS:C4022959	hp.json		http://purl.obolibrary.org/obo/HP_0012300							
HP:0012301	biolink:PhenotypicFeature	Type II transferrin isoform profile	Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.	UMLS:C4021094	hp.json	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							
HP:0012302	biolink:PhenotypicFeature	Herpes simplex encephalitis	A severe virus infection of the central nervous system by the herpes simplex virus (HSV).	MSH:D020803|SNOMEDCT_US:428638009|UMLS:C0276226	hp.json		http://purl.obolibrary.org/obo/HP_0012302							
HP:0012303	biolink:PhenotypicFeature	Abnormal aortic arch morphology	An anomaly of the arch of aorta.	Fyler:2700|SNOMEDCT_US:448742006|UMLS:C3163801	hp.json	Abnormality of the aortic arch	http://purl.obolibrary.org/obo/HP_0012303							
HP:0012304	biolink:PhenotypicFeature	Hypoplastic aortic arch	Underdevelopment of the arch of aorta.	Fyler:2704|SNOMEDCT_US:60787001|UMLS:C0265881	hp.json	Underdeveloped aortic arch|Aortic arch hypoplasia	http://purl.obolibrary.org/obo/HP_0012304							
HP:0012305	biolink:PhenotypicFeature	Coarctation of the descending aortic arch	Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.	UMLS:C4022958	hp.json		http://purl.obolibrary.org/obo/HP_0012305							
HP:0012306	biolink:PhenotypicFeature	Abnormal rib ossification	An anomaly of the process of rib bone formation.	UMLS:C4022957	hp.json	Abnormal maturation of rib bones	http://purl.obolibrary.org/obo/HP_0012306							
HP:0012307	biolink:PhenotypicFeature	Spatulate ribs	Ribs that are increased in width and taper to the posterior ends.	UMLS:C1856637	hp.json		http://purl.obolibrary.org/obo/HP_0012307							
HP:0012308	biolink:PhenotypicFeature	Decreased serum complement C9	A reduced level of the complement component C9 in circulation.	UMLS:C4021093	hp.json	Decreased serum C9	http://purl.obolibrary.org/obo/HP_0012308							
HP:0012309	biolink:PhenotypicFeature	Cutaneous amyloidosis	The presence of amyloid deposition in the superficial dermis.	MSH:C562642|SNOMEDCT_US:201337008|SNOMEDCT_US:281882003|SNOMEDCT_US:282834007|SNOMEDCT_US:718105008|UMLS:C0268397	hp.json		http://purl.obolibrary.org/obo/HP_0012309							
HP:0012310	biolink:PhenotypicFeature	Abnormal monocyte count	An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.	SNOMEDCT_US:165540007|SNOMEDCT_US:165541006|UMLS:C0580319	hp.json	Abnormal monocyte number	http://purl.obolibrary.org/obo/HP_0012310							
HP:0012311	biolink:PhenotypicFeature	Monocytosis	An increased number of circulating monocytes.	SNOMEDCT_US:19636003|UMLS:C0085702	hp.json	High blood monocyte number	http://purl.obolibrary.org/obo/HP_0012311							
HP:0012312	biolink:PhenotypicFeature	Monocytopenia	An decreased number of circulating monocytes.	SNOMEDCT_US:165539005|UMLS:C0427544	hp.json	Low blood monocyte number	http://purl.obolibrary.org/obo/HP_0012312							
HP:0012313	biolink:PhenotypicFeature	Heberden's node	Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.	SNOMEDCT_US:371598009|UMLS:C0018862	hp.json		http://purl.obolibrary.org/obo/HP_0012313							
HP:0012314	biolink:PhenotypicFeature	Bouchard's node	Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.	SNOMEDCT_US:20243008|UMLS:C0263780	hp.json		http://purl.obolibrary.org/obo/HP_0012314							
HP:0012315	biolink:PhenotypicFeature	Histiocytoma	A neoplasm containing histiocytes.	MSH:D051642|SNOMEDCT_US:128741006|SNOMEDCT_US:302843004|UMLS:C1509147	hp.json		http://purl.obolibrary.org/obo/HP_0012315							
HP:0012316	biolink:PhenotypicFeature	Fibrous tissue neoplasm	Any neoplasm composed of fibrous tissue.	MSH:D018218|UMLS:C0206643	hp.json		http://purl.obolibrary.org/obo/HP_0012316							
HP:0012317	biolink:PhenotypicFeature	Sacroiliac arthritis	Inflammation of the sacroiliac joint, generally accompanied by lower back pain.	MSH:C563037|UMLS:C0748473	hp.json	Sacroiliitis	http://purl.obolibrary.org/obo/HP_0012317							
HP:0012318	biolink:PhenotypicFeature	Occipital neuralgia	A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.	SNOMEDCT_US:71760005|UMLS:C0007863	hp.json		http://purl.obolibrary.org/obo/HP_0012318							
HP:0012319	biolink:PhenotypicFeature	Absent pigmentation of the abdomen	Lack of skin pigmentation (coloring) of the abdomen.	UMLS:C4022956	hp.json		http://purl.obolibrary.org/obo/HP_0012319							
HP:0012320	biolink:PhenotypicFeature	Absent pigmentation of the limbs	Lack of skin pigmentation (coloring) of the arms and legs.	UMLS:C4022955	hp.json		http://purl.obolibrary.org/obo/HP_0012320							
HP:0012321	biolink:PhenotypicFeature	D-2-hydroxyglutaric aciduria	An increased concentration of 2-hydroxyglutaric acid in the urine.	SNOMEDCT_US:237960000|UMLS:C1833429	hp.json		http://purl.obolibrary.org/obo/HP_0012321							
HP:0012322	biolink:PhenotypicFeature	Perifolliculitis	Inflammation surrounding hair follicles.	SNOMEDCT_US:83341004|UMLS:C0263006	hp.json	Perifollicular inflammation	http://purl.obolibrary.org/obo/HP_0012322							
HP:0012323	biolink:PhenotypicFeature	Sleep myoclonus	Myoclonus that occurs during the initial phases of sleep.	MSH:D009207|SNOMEDCT_US:34101000119105|UMLS:C0751352	hp.json		http://purl.obolibrary.org/obo/HP_0012323							
HP:0012324	biolink:PhenotypicFeature	Myeloid leukemia	A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.	MSH:D007951|SNOMEDCT_US:128934006|SNOMEDCT_US:188732008|SNOMEDCT_US:37810007|UMLS:C0023470	hp.json	Myeloid leukaemia	http://purl.obolibrary.org/obo/HP_0012324							
HP:0012325	biolink:PhenotypicFeature	Chronic myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	MSH:D015477|SNOMEDCT_US:127225006|SNOMEDCT_US:128831004|UMLS:C0023480	hp.json	Chronic myelomonocytic leukaemia	http://purl.obolibrary.org/obo/HP_0012325							
HP:0012326	biolink:PhenotypicFeature	Abnormal celiac artery morphology	An anomaly of the celiac artery.	UMLS:C4022954	hp.json	Abnormal coeliac artery morphology|Abnormality of the coeliac artery|Abnormality of the celiac artery	http://purl.obolibrary.org/obo/HP_0012326							
HP:0012327	biolink:PhenotypicFeature	Celiac artery compression	Compression of the celiac artery.	SNOMEDCT_US:9250002|UMLS:C0152098|UMLS:C4020693	hp.json	Coeliac artery compression|Coeliac axis syndrome|Celiac axis syndrome|Dunbar syndrome|Median arcuate ligament syndrome	http://purl.obolibrary.org/obo/HP_0012327							
HP:0012328	biolink:PhenotypicFeature	Cementoma	An odontogenic tumor of the cementum of tooth.	MSH:D002485|SNOMEDCT_US:23255001|SNOMEDCT_US:37258009|UMLS:C0007659	hp.json		http://purl.obolibrary.org/obo/HP_0012328							
HP:0012329	biolink:PhenotypicFeature	Tufted angioma	A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.	MSH:C536924|SNOMEDCT_US:254786000|SNOMEDCT_US:705155008|UMLS:C0346073	hp.json	Angioblastoma|Angioblastoma of Nakagawa|Hypertrophic hemangioma|Progressive capillary hemangioma|Tufted hemangioma	http://purl.obolibrary.org/obo/HP_0012329							
HP:0012330	biolink:PhenotypicFeature	Pyelonephritis	An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.	MSH:D011704|SNOMEDCT_US:45816000|UMLS:C0034186	hp.json		http://purl.obolibrary.org/obo/HP_0012330							
HP:0012331	biolink:PhenotypicFeature	Abnormal autonomic nervous system morphology	A structural abnormality of the autonomic nervous system.	UMLS:C4022953	hp.json		http://purl.obolibrary.org/obo/HP_0012331							
HP:0012332	biolink:PhenotypicFeature	Abnormal autonomic nervous system physiology	A functional abnormality of the autonomic nervous system.	UMLS:C4022952	hp.json	Autonomic dysfunction|Autonomic dysregulation|Dysautonomia	http://purl.obolibrary.org/obo/HP_0012332							
HP:0012333	biolink:PhenotypicFeature	Abnormal sudomotor regulation	An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.	UMLS:C4021092	hp.json	Sudomotor sympathetic dysfunction	http://purl.obolibrary.org/obo/HP_0012333							
HP:0012334	biolink:PhenotypicFeature	Extrahepatic cholestasis	Impairment of bile flow due to obstruction in large bile ducts outside the liver.	MSH:D001651|SNOMEDCT_US:20719006|SNOMEDCT_US:8262006|UMLS:C0005398	hp.json		http://purl.obolibrary.org/obo/HP_0012334							
HP:0012335	biolink:PhenotypicFeature	Abnormality of folate metabolism	An abnormality of the metabolism of folic acid, which is also known as vitamin B9.	UMLS:C4022951	hp.json		http://purl.obolibrary.org/obo/HP_0012335							
HP:0012336	biolink:PhenotypicFeature	obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration			hp.json		http://purl.obolibrary.org/obo/HP_0012336							
HP:0012337	biolink:PhenotypicFeature	Abnormal homeostasis	An anomaly in the processes involved in the maintenance of an internal equilibrium.	MP:0001764|UMLS:C4022950	hp.json		http://purl.obolibrary.org/obo/HP_0012337							
HP:0012338	biolink:PhenotypicFeature	Abnormal energy expenditure	Any anomaly in the utilization of energy (calories).	UMLS:C4022949	hp.json	Abnormal energy expenditure	http://purl.obolibrary.org/obo/HP_0012338							
HP:0012339	biolink:PhenotypicFeature	Increased resting energy expenditure	An increase in the number of calories used per unit time.	UMLS:C4022948	hp.json		http://purl.obolibrary.org/obo/HP_0012339							
HP:0012340	biolink:PhenotypicFeature	Decreased resting energy expenditure	A reduction in the number of calories used per unit time.	UMLS:C4022947	hp.json		http://purl.obolibrary.org/obo/HP_0012340							
HP:0012341	biolink:PhenotypicFeature	Microprolactinoma	A pituitary prolactin cell adenoma of less than 10 mm diameter.	MSH:D015175|SNOMEDCT_US:253010003|UMLS:C0344452	hp.json		http://purl.obolibrary.org/obo/HP_0012341							
HP:0012342	biolink:PhenotypicFeature	Macroprolactinoma	A pituitary prolactin cell adenoma of more than 10 mm diameter.	MSH:D015175|SNOMEDCT_US:253011004|UMLS:C0344453	hp.json		http://purl.obolibrary.org/obo/HP_0012342							
HP:0012343	biolink:PhenotypicFeature	Decreased circulating ferritin concentration	Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.	UMLS:C0241012	hp.json	Decreased serum ferritin|Low ferritin level|Reduced serum ferritin|Decreased plasma ferritin	http://purl.obolibrary.org/obo/HP_0012343							
HP:0012344	biolink:PhenotypicFeature	Morphea	Isolated patches of hardened skin (scleroderma).	MSH:D012594|SNOMEDCT_US:201049004|UMLS:C1527383	hp.json		http://purl.obolibrary.org/obo/HP_0012344							
HP:0012345	biolink:PhenotypicFeature	Abnormal glycosylation	An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.	UMLS:C4022946	hp.json		http://purl.obolibrary.org/obo/HP_0012345							
HP:0012346	biolink:PhenotypicFeature	Abnormal protein glycosylation	An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.	UMLS:C4022945	hp.json		http://purl.obolibrary.org/obo/HP_0012346							
HP:0012347	biolink:PhenotypicFeature	Abnormal protein N-linked glycosylation	An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.	UMLS:C4022944	hp.json		http://purl.obolibrary.org/obo/HP_0012347							
HP:0012348	biolink:PhenotypicFeature	Decreased galactosylation of N-linked protein glycosylation	A reduction in the amount of galactose residues of N-glycans.	UMLS:C4022943	hp.json		http://purl.obolibrary.org/obo/HP_0012348							
HP:0012349	biolink:PhenotypicFeature	Abnormal sialylation of N-linked protein glycosylation	An anomaly of the addition of sialic acids to N-linked glycans.	UMLS:C4022942	hp.json		http://purl.obolibrary.org/obo/HP_0012349							
HP:0012350	biolink:PhenotypicFeature	Decreased sialylation of N-linked protein glycosylation	Decreased addition of sialic acids to N-linked glycans.	UMLS:C4022941	hp.json		http://purl.obolibrary.org/obo/HP_0012350							
HP:0012351	biolink:PhenotypicFeature	Increased sialylation of N-linked protein glycosylation	Increased addition of sialic acids to N-linked glycans.	UMLS:C4022940	hp.json		http://purl.obolibrary.org/obo/HP_0012351							
HP:0012352	biolink:PhenotypicFeature	Abnormal fucosylation of protein N-linked glycosylation	An anomaly of the addition of fucose sugar units to N-linked glycans.	UMLS:C4022939	hp.json		http://purl.obolibrary.org/obo/HP_0012352							
HP:0012353	biolink:PhenotypicFeature	Decreased fucosylation of N-linked protein glycosylation	Decreased addition of fucose sugar units to N-linked glycans.	UMLS:C4022938	hp.json		http://purl.obolibrary.org/obo/HP_0012353							
HP:0012354	biolink:PhenotypicFeature	Increased fucosylation of N-linked protein glycosylation	Increased addition of fucose sugar units to N-linked glycans.	UMLS:C4022937	hp.json		http://purl.obolibrary.org/obo/HP_0012354							
HP:0012355	biolink:PhenotypicFeature	Abnormal mannosylation of N-linked protein glycosylation	An anomaly of the addition of mannose to N-linked glycans.	UMLS:C4022936	hp.json		http://purl.obolibrary.org/obo/HP_0012355							
HP:0012356	biolink:PhenotypicFeature	Decreased mannosylation of N-linked protein glycosylation	Reduced addition of mannose to N-linked glycans.	UMLS:C4022935	hp.json		http://purl.obolibrary.org/obo/HP_0012356							
HP:0012357	biolink:PhenotypicFeature	Increased mannosylation of N-linked protein glycosylation	Increased addition of mannose to N-linked glycans.	UMLS:C4022934	hp.json		http://purl.obolibrary.org/obo/HP_0012357							
HP:0012358	biolink:PhenotypicFeature	Abnormal protein O-linked glycosylation	An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.	UMLS:C4022933	hp.json		http://purl.obolibrary.org/obo/HP_0012358							
HP:0012359	biolink:PhenotypicFeature	Abnormal fucosylation of O-linked protein glycosylation	An anomaly of the addition of fucose sugar units to O-linked glycans.	UMLS:C4022932	hp.json		http://purl.obolibrary.org/obo/HP_0012359							
HP:0012360	biolink:PhenotypicFeature	Decreased fucosylation of O-linked protein glycosylation	A reduction of the addition of fucose sugar units to O-linked glycans.	UMLS:C4022931	hp.json		http://purl.obolibrary.org/obo/HP_0012360							
HP:0012361	biolink:PhenotypicFeature	Increased fucosylation of O-linked protein glycosylation	Increased addition of fucose sugar units to O-linked glycans.	UMLS:C4022930	hp.json		http://purl.obolibrary.org/obo/HP_0012361							
HP:0012362	biolink:PhenotypicFeature	Abnormal sialylation of O-linked protein glycosylation	An anomaly of the addition of sialic acids to O-linked glycans.	UMLS:C4022929	hp.json		http://purl.obolibrary.org/obo/HP_0012362							
HP:0012363	biolink:PhenotypicFeature	Decreased sialylation of O-linked protein glycosylation	An reduced addition of sialic acids to O-linked glycans.	UMLS:C4022928	hp.json		http://purl.obolibrary.org/obo/HP_0012363							
HP:0012364	biolink:PhenotypicFeature	Decreased urinary potassium	A decreased concentration of potassium(1+) in the urine.	SNOMEDCT_US:54781007|UMLS:C0268024	hp.json	Decreased urinary K|Hypokaluria|Low urine potassium levels	http://purl.obolibrary.org/obo/HP_0012364							
HP:0012365	biolink:PhenotypicFeature	Hypophosphaturia	An abnormally decreased phosphate concentration in the urine.	SNOMEDCT_US:91632005|UMLS:C0268077	hp.json	Low urine phosphate levels	http://purl.obolibrary.org/obo/HP_0012365							
HP:0012366	biolink:PhenotypicFeature	Basilar invagination	Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).	UMLS:C3887851	hp.json		http://purl.obolibrary.org/obo/HP_0012366							
HP:0012367	biolink:PhenotypicFeature	Extra fontanelles	Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.	UMLS:C4022927	hp.json		http://purl.obolibrary.org/obo/HP_0012367							hposlim_core
HP:0012368	biolink:PhenotypicFeature	Flat face	Absence of concavity or convexity of the face when viewed in profile.	UMLS:C1853241	hp.json	Flat face|Flat facial shape|Flat facial profile|Flat facies	http://purl.obolibrary.org/obo/HP_0012368							hposlim_core
HP:0012369	biolink:PhenotypicFeature	Abnormality of malar bones	An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.	UMLS:C4022926	hp.json	Malar anomaly|Anomaly of the malar bones|Deformity of the malar bones|Malformation of the malar bones	http://purl.obolibrary.org/obo/HP_0012369							
HP:0012370	biolink:PhenotypicFeature	Prominence of the zygomatic bone	Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.	SNOMEDCT_US:427888001|UMLS:C0375511|UMLS:C1997760|UMLS:C4082245	hp.json	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							hposlim_core
HP:0012371	biolink:PhenotypicFeature	Hyperplasia of midface	Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face	UMLS:C0240309	hp.json	Big midface|Large midface|Midfacial excess|Midfacial prominence|Overgrowth of the midface|Midface hyperplasia|Hypertrophy of midface	http://purl.obolibrary.org/obo/HP_0012371							hposlim_core
HP:0012372	biolink:PhenotypicFeature	Abnormal eye morphology	A structural anomaly of the globe of the eye, or bulbus oculi.	Fyler:4863|UMLS:C4022925	hp.json	Abnormal eye structure|Abnormally shaped eye|Abnormality of the globe	http://purl.obolibrary.org/obo/HP_0012372							
HP:0012373	biolink:PhenotypicFeature	Abnormal eye physiology	A functional anomaly of the eye.	UMLS:C4022924	hp.json	Abnormal eye physiology	http://purl.obolibrary.org/obo/HP_0012373							
HP:0012374	biolink:PhenotypicFeature	obsolete Abnormal globe morphology			hp.json		http://purl.obolibrary.org/obo/HP_0012374							
HP:0012375	biolink:PhenotypicFeature	Chemosis	Edema (swelling) of the bulbar conjunctiva.	SNOMEDCT_US:8148005|UMLS:C0271298	hp.json		http://purl.obolibrary.org/obo/HP_0012375							
HP:0012376	biolink:PhenotypicFeature	Microphakia	Abnormal smallness of the lens.	SNOMEDCT_US:35272001|UMLS:C0266541	hp.json	Small lens	http://purl.obolibrary.org/obo/HP_0012376							hposlim_core
HP:0012377	biolink:PhenotypicFeature	Hemianopia	Partial or complete loss of vision in one half of the visual field of one or both eyes.	MSH:D006423|SNOMEDCT_US:77674003|UMLS:C0018979	hp.json	Hemianopsia	http://purl.obolibrary.org/obo/HP_0012377							
HP:0012378	biolink:PhenotypicFeature	Fatigue	A subjective feeling of tiredness characterized by a lack of energy and motivation.	MSH:D005221|SNOMEDCT_US:248274002|SNOMEDCT_US:84229001|UMLS:C0015672	hp.json	Fatigue|Tired|Tiredness	http://purl.obolibrary.org/obo/HP_0012378							
HP:0012379	biolink:PhenotypicFeature	Abnormal enzyme/coenzyme activity	An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.	UMLS:C4022922	hp.json		http://purl.obolibrary.org/obo/HP_0012379							
HP:0012380	biolink:PhenotypicFeature	Reduced carnitine O-palmitoyltransferase level	Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.	UMLS:C4022921	hp.json		http://purl.obolibrary.org/obo/HP_0012380							
HP:0012381	biolink:PhenotypicFeature	Delayed self-feeding during toddler years	A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).	UMLS:C4022920	hp.json		http://purl.obolibrary.org/obo/HP_0012381							
HP:0012382	biolink:PhenotypicFeature	Left-to-right shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.	SNOMEDCT_US:66130006|UMLS:C0428870	hp.json		http://purl.obolibrary.org/obo/HP_0012382							
HP:0012383	biolink:PhenotypicFeature	Bidirectional shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.	SNOMEDCT_US:13352000|UMLS:C0428872	hp.json		http://purl.obolibrary.org/obo/HP_0012383							
HP:0012384	biolink:PhenotypicFeature	Rhinitis	Inflammation of the nasal mucosa with nasal congestion.	MSH:D012220|SNOMEDCT_US:70076002|UMLS:C0035455|UMLS:C2718128	hp.json	Nasal inflammation	http://purl.obolibrary.org/obo/HP_0012384							hposlim_core
HP:0012385	biolink:PhenotypicFeature	Camptodactyly	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.	SNOMEDCT_US:29271008|UMLS:C0685409	hp.json	Permanent flexion of the finger or toe	http://purl.obolibrary.org/obo/HP_0012385							hposlim_core
HP:0012386	biolink:PhenotypicFeature	Absent hallux	Aplasia of the hallux, that is, a development defect such that the big toe does not develop.	UMLS:C1841686	hp.json	Absent big toe|Missing big toe|Agenesis of the halluces|Aplasia of the hallux	http://purl.obolibrary.org/obo/HP_0012386							
HP:0012387	biolink:PhenotypicFeature	Bronchitis	Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.	MSH:D001991|SNOMEDCT_US:32398004|UMLS:C0006277	hp.json		http://purl.obolibrary.org/obo/HP_0012387							
HP:0012388	biolink:PhenotypicFeature	Acute bronchitis	Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.	SNOMEDCT_US:10509002|SNOMEDCT_US:35301006|UMLS:C0149514	hp.json		http://purl.obolibrary.org/obo/HP_0012388							
HP:0012389	biolink:PhenotypicFeature	Appendicular hypotonia	Muscular hypotonia of one or more limbs.	UMLS:C4022919	hp.json		http://purl.obolibrary.org/obo/HP_0012389							
HP:0012390	biolink:PhenotypicFeature	Anal fissure	A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.	MSH:D005401|SNOMEDCT_US:20928004|SNOMEDCT_US:30037006|UMLS:C0016167	hp.json	Anal erosion	http://purl.obolibrary.org/obo/HP_0012390							
HP:0012391	biolink:PhenotypicFeature	Hyporeflexia of upper limbs	Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.	UMLS:C1836835	hp.json		http://purl.obolibrary.org/obo/HP_0012391							
HP:0012392	biolink:PhenotypicFeature	Jaw hyporeflexia	Reduced intensity of muscle tendon reflexes in jaw.	UMLS:C4022918	hp.json	Mandibular hyporeflexia	http://purl.obolibrary.org/obo/HP_0012392							
HP:0012393	biolink:PhenotypicFeature	Allergy	An allergy is an immune response or reaction to substances that are usually not harmful.	MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304	hp.json	Allergy	http://purl.obolibrary.org/obo/HP_0012393							
HP:0012394	biolink:PhenotypicFeature	Iodine contrast allergy	Allergy to iodine contrast media used in radiological studies.	UMLS:C4022917	hp.json		http://purl.obolibrary.org/obo/HP_0012394							
HP:0012395	biolink:PhenotypicFeature	Seasonal allergy	An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.	MSH:D006255|SNOMEDCT_US:21719001|SNOMEDCT_US:300910009|SNOMEDCT_US:367498001|SNOMEDCT_US:444316004|UMLS:C0018621	hp.json	Seasonal allergy	http://purl.obolibrary.org/obo/HP_0012395							
HP:0012396	biolink:PhenotypicFeature	Biliary dyskinesia	A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.	MSH:D001657|SNOMEDCT_US:197432008|UMLS:C0005416	hp.json		http://purl.obolibrary.org/obo/HP_0012396							
HP:0012397	biolink:PhenotypicFeature	Aortic atherosclerotic lesion	The presence of atheromas or atherosclerotic plaques in the aorta.	SNOMEDCT_US:81817003|UMLS:C0155733	hp.json	Aortic atherosclerosis|Plaque build-up in aorta artery|Atherosclerosis of the aorta|Atherosclerotic changes of aorta	http://purl.obolibrary.org/obo/HP_0012397							
HP:0012398	biolink:PhenotypicFeature	Peripheral edema	An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.	SNOMEDCT_US:271809000|SNOMEDCT_US:82014009|UMLS:C0085649	hp.json	Peripheral oedema	http://purl.obolibrary.org/obo/HP_0012398							
HP:0012399	biolink:PhenotypicFeature	Pressure ulcer	A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.	MSH:D003668|SNOMEDCT_US:399912005|SNOMEDCT_US:420226006|UMLS:C0011127	hp.json	Bedsore|Pressure Sore|Pressure ulcer|Decubitus Ulcer	http://purl.obolibrary.org/obo/HP_0012399							
HP:0012400	biolink:PhenotypicFeature	Abnormal aldolase level	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.	UMLS:C4022916	hp.json		http://purl.obolibrary.org/obo/HP_0012400							
HP:0012401	biolink:PhenotypicFeature	Abnormal urine alpha-ketoglutarate concentration	A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.	UMLS:C4020902	hp.json	Abnormal urinary 2-oxoglutarate level|Abnormality of urine alpha ketoglutarate concentration	http://purl.obolibrary.org/obo/HP_0012401							
HP:0012402	biolink:PhenotypicFeature	Increased urine alpha-ketoglutarate concentration	A greater than normal concentration of 2-oxoglutaric acid in the urine.	UMLS:C4022915	hp.json	Increased urine alpha-ketoglutarate concentration|Elevated urinary 2-oxoglutarate	http://purl.obolibrary.org/obo/HP_0012402							
HP:0012403	biolink:PhenotypicFeature	Decreased urine alpha-ketoglutarate concentration	A lower than normal concentration of 2-oxoglutaric acid in the urine.	UMLS:C4022914	hp.json	Decreased urinary 2-oxoglutarate	http://purl.obolibrary.org/obo/HP_0012403							
HP:0012404	biolink:PhenotypicFeature	Abnormal urine citrate concentration	A deviation from normal of the concentration of citrate(3-) in the urine.	UMLS:C4022913	hp.json	Abnormal urine citrate concentration|Abnormal urine citric acid concentration	http://purl.obolibrary.org/obo/HP_0012404							
HP:0012405	biolink:PhenotypicFeature	Hypocitraturia	A lower than normal concentration of citrate(3-) in the urine.	UMLS:C2673444	hp.json	Decreased urine citrate concentration	http://purl.obolibrary.org/obo/HP_0012405							
HP:0012406	biolink:PhenotypicFeature	Hypercitraturia	A greater than normal concentration of citrate(3-) in the urine.	UMLS:C4021090	hp.json	Increased urine citrate concentration	http://purl.obolibrary.org/obo/HP_0012406							
HP:0012407	biolink:PhenotypicFeature	Scissor gait	A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.	MSH:D020233|SNOMEDCT_US:22090007|UMLS:C0231698	hp.json	Scissor gait|Scissor walk|Scissors gait	http://purl.obolibrary.org/obo/HP_0012407							
HP:0012408	biolink:PhenotypicFeature	Medullary nephrocalcinosis	The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).	SNOMEDCT_US:236447005|UMLS:C0403477	hp.json		http://purl.obolibrary.org/obo/HP_0012408							
HP:0012409	biolink:PhenotypicFeature	Cortical nephrocalcinosis	The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).	SNOMEDCT_US:236446001|UMLS:C0403476	hp.json		http://purl.obolibrary.org/obo/HP_0012409							
HP:0012410	biolink:PhenotypicFeature	Pure red cell aplasia	A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.	MSH:D012010|SNOMEDCT_US:50715003|UMLS:C0034902	hp.json	Red cell aplasia	http://purl.obolibrary.org/obo/HP_0012410							
HP:0012411	biolink:PhenotypicFeature	Premature pubarche	The onset of growth of pubic hair at an earlier age than normal.	SNOMEDCT_US:237815000|UMLS:C0342541	hp.json	Premature pubic hair growth	http://purl.obolibrary.org/obo/HP_0012411							
HP:0012412	biolink:PhenotypicFeature	Premature adrenarche	Onset of adrenarche at an earlier age than usual.	SNOMEDCT_US:103021001|UMLS:C0342546	hp.json		http://purl.obolibrary.org/obo/HP_0012412							
HP:0012413	biolink:PhenotypicFeature	Notched primary central incisor	The presence of a V-shaped indentation (notch) in the primary central incisor.	MSH:D013590|SNOMEDCT_US:410500004|SNOMEDCT_US:86443005|UMLS:C0020186|UMLS:C1444627|UMLS:C4022912	hp.json	Notched front baby tooth|Notched front deciduous tooth|Notched front primary tooth|Syphilitic primary incisor	http://purl.obolibrary.org/obo/HP_0012413							
HP:0012414	biolink:PhenotypicFeature	Duodenal atrophy	Wasting or decrease in size of all or part of the duodenum.	UMLS:C4022911	hp.json		http://purl.obolibrary.org/obo/HP_0012414							
HP:0012415	biolink:PhenotypicFeature	Abnormal blood gas level	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.	SNOMEDCT_US:312391003|UMLS:C0476337	hp.json	Abnormal blood gas level	http://purl.obolibrary.org/obo/HP_0012415							
HP:0012416	biolink:PhenotypicFeature	Hypercapnia	Abnormally elevated blood carbon dioxide (CO2) level.	MSH:D006935|SNOMEDCT_US:29596007|UMLS:C0020440	hp.json	High blood carbon dioxide level|Hypercarbia	http://purl.obolibrary.org/obo/HP_0012416							
HP:0012417	biolink:PhenotypicFeature	Hypocapnia	Abnormally reduced blood carbon dioxide (CO2) level.	MSH:D016857|SNOMEDCT_US:61031008|UMLS:C0085383	hp.json	Reduced carbon dioxide in the blood|Hypocarbia	http://purl.obolibrary.org/obo/HP_0012417							
HP:0012418	biolink:PhenotypicFeature	Hypoxemia	An abnormally low level of blood oxygen.	MSH:D000860|SNOMEDCT_US:389087006|UMLS:C0700292	hp.json	Low blood oxygen level|Hypoxia	http://purl.obolibrary.org/obo/HP_0012418							
HP:0012419	biolink:PhenotypicFeature	Hyperoxemia	An abnormally high level of blood oxygen.	UMLS:C4022910	hp.json		http://purl.obolibrary.org/obo/HP_0012419							
HP:0012420	biolink:PhenotypicFeature	Meconium stained amniotic fluid	Amniotic fluid containing the earliest stools of a mammalian infant.	SNOMEDCT_US:168092006|SNOMEDCT_US:249135009|UMLS:C0426209	hp.json	Meconium staining of amniotic fluid|Meconium-stained amniotic fluid	http://purl.obolibrary.org/obo/HP_0012420							
HP:0012421	biolink:PhenotypicFeature	Congenital absence of foreskin	Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.	SNOMEDCT_US:300519001|UMLS:C0577242	hp.json	Absent foreskin|Aposthia	http://purl.obolibrary.org/obo/HP_0012421							
HP:0012422	biolink:PhenotypicFeature	Villous hypertrophy of choroid plexus	Overgrowth of the choroid plexus.	UMLS:C4020728|UMLS:C4021089	hp.json	Choroid plexus hypertrophy|Diffuse villous hypertrophy of choroid plexus	http://purl.obolibrary.org/obo/HP_0012422							
HP:0012423	biolink:PhenotypicFeature	Colonic inertia	The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.	MSH:D003248|UMLS:C1257861	hp.json		http://purl.obolibrary.org/obo/HP_0012423							
HP:0012424	biolink:PhenotypicFeature	Chorioretinitis	An inflammation of the choroid and retina.	MSH:D002825|SNOMEDCT_US:46627006|UMLS:C0008513	hp.json		http://purl.obolibrary.org/obo/HP_0012424							
HP:0012425	biolink:PhenotypicFeature	Stercoral ulcer	An ulcer of the colon due to pressure and irritation from retained fecal masses.	SNOMEDCT_US:235766003|SNOMEDCT_US:38084005|SNOMEDCT_US:46040000|UMLS:C0267491|UMLS:C0333302	hp.json	Colon ulcer|Recto-sigmoid colon stercoral ulcer	http://purl.obolibrary.org/obo/HP_0012425							
HP:0012426	biolink:PhenotypicFeature	Optic disc drusen	Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.	MSH:D015594|SNOMEDCT_US:33629003|UMLS:C0029128	hp.json	Optic nerve head drusen	http://purl.obolibrary.org/obo/HP_0012426							
HP:0012427	biolink:PhenotypicFeature	Excessive femoral anteversion	An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.	UMLS:C4022909	hp.json		http://purl.obolibrary.org/obo/HP_0012427							
HP:0012428	biolink:PhenotypicFeature	Prominent calcaneus	Protruding heel bone, or calcaneus.	UMLS:C4021088	hp.json	Prominent heel bone	http://purl.obolibrary.org/obo/HP_0012428							
HP:0012429	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the cerebral white matter	Absence or underdevelopment of the cerebral white matter.	UMLS:C4021844	hp.json	Absent/small cerebral white matter|Absent/underdeveloped cerebral white matter	http://purl.obolibrary.org/obo/HP_0012429							
HP:0012430	biolink:PhenotypicFeature	Cerebral white matter hypoplasia	Underdevelopment of the cerebral white matter.	UMLS:C4020727|UMLS:C4022908	hp.json	Paucity of cerebral white matter	http://purl.obolibrary.org/obo/HP_0012430							
HP:0012431	biolink:PhenotypicFeature	Episodic fatigue	Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.	UMLS:C4022907	hp.json		http://purl.obolibrary.org/obo/HP_0012431							
HP:0012432	biolink:PhenotypicFeature	Chronic fatigue	Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.	UMLS:C0518656	hp.json	Chronic extreme exhaustion|Chronic fatigue	http://purl.obolibrary.org/obo/HP_0012432							
HP:0012433	biolink:PhenotypicFeature	Abnormal social behavior	An abnormality of actions or reactions of a person taking place during interactions with others.	UMLS:C4020726|UMLS:C4021087	hp.json	Abnormal social behavior|Abnormal social behaviour|Abnormal social interactions	http://purl.obolibrary.org/obo/HP_0012433							
HP:0012434	biolink:PhenotypicFeature	Delayed social development	A failure to meet one or more age-related milestones of social behavior.	UMLS:C4022906	hp.json	Delayed social development	http://purl.obolibrary.org/obo/HP_0012434							
HP:0012435	biolink:PhenotypicFeature	Ventral shortening of foreskin	Reduction in length of the ventral (lower) skin of prepuce of penis.	UMLS:C4022905	hp.json		http://purl.obolibrary.org/obo/HP_0012435							
HP:0012436	biolink:PhenotypicFeature	Nonocclusive coronary artery atherosclerosis	Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.	UMLS:C4020724|UMLS:C4020725	hp.json	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							
HP:0012437	biolink:PhenotypicFeature	Abnormal gallbladder morphology	A structural anomaly of the gallbladder.	UMLS:C4022904	hp.json	Abnormal gallbladder structure|Abnormal shape of gallbladder	http://purl.obolibrary.org/obo/HP_0012437							
HP:0012438	biolink:PhenotypicFeature	Abnormal gallbladder physiology	A functional anomaly of the gallbladder.	UMLS:C4022903	hp.json		http://purl.obolibrary.org/obo/HP_0012438							
HP:0012439	biolink:PhenotypicFeature	Abnormal biliary tract physiology	A functional abnormality of the biliary tree.	UMLS:C4022902	hp.json		http://purl.obolibrary.org/obo/HP_0012439							
HP:0012440	biolink:PhenotypicFeature	Abnormal biliary tract morphology	A structural abnormality of the biliary tree.	UMLS:C4021086	hp.json	Anomaly of the biliary tract	http://purl.obolibrary.org/obo/HP_0012440							
HP:0012441	biolink:PhenotypicFeature	Sphincter of Oddi dyskinesia	Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.	MSH:D046628|SNOMEDCT_US:430887001|UMLS:C0878588|UMLS:C4048750	hp.json	Sphincter of Oddi dysfunction	http://purl.obolibrary.org/obo/HP_0012441							
HP:0012442	biolink:PhenotypicFeature	Gallbladder dyskinesia	Reduced motility of the gallbladder with reduced emptying fraction.	MSH:D001657|UMLS:C1449631	hp.json		http://purl.obolibrary.org/obo/HP_0012442							
HP:0012443	biolink:PhenotypicFeature	Abnormality of brain morphology	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.	UMLS:C4021085	hp.json	Abnormal shape of brain|Abnormality of the brain	http://purl.obolibrary.org/obo/HP_0012443							
HP:0012444	biolink:PhenotypicFeature	Brain atrophy	Partial or complete wasting (loss) of brain tissue that was once present.	SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946	hp.json	Brain degeneration|Brain wasting	http://purl.obolibrary.org/obo/HP_0012444							
HP:0012446	biolink:PhenotypicFeature	Decreased CSF 5-methyltetrahydrofolate concentration	A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.	MSH:C567791|SNOMEDCT_US:711403001|UMLS:C2751584|UMLS:C4022901	hp.json	Reduced CSF 5-methyltetrahydrofolate concentration|Low CSF 5-methyltetrahydrofolate|Cerebral folate deficiency	http://purl.obolibrary.org/obo/HP_0012446							
HP:0012447	biolink:PhenotypicFeature	Abnormal myelination	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.	UMLS:C1857704	hp.json		http://purl.obolibrary.org/obo/HP_0012447							
HP:0012448	biolink:PhenotypicFeature	Delayed myelination	Delayed myelination.	SNOMEDCT_US:135810007|UMLS:C1277241	hp.json		http://purl.obolibrary.org/obo/HP_0012448							
HP:0012449	biolink:PhenotypicFeature	Sacroiliac joint synovitis	Inflammation of the synovial membrane of the sacroiliac joint.	UMLS:C4022900	hp.json		http://purl.obolibrary.org/obo/HP_0012449							
HP:0012450	biolink:PhenotypicFeature	Chronic constipation	Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.	SNOMEDCT_US:236069009|UMLS:C0401149	hp.json	Chronic constipation|Infrequent bowel movements	http://purl.obolibrary.org/obo/HP_0012450							
HP:0012451	biolink:PhenotypicFeature	Acute constipation	Constipation of sudden onset and lasting for less than three months.	SNOMEDCT_US:197119006|UMLS:C0401148	hp.json		http://purl.obolibrary.org/obo/HP_0012451							
HP:0012452	biolink:PhenotypicFeature	Restless legs	A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).	MSH:D012148|SNOMEDCT_US:32914008|UMLS:C0035258	hp.json	Willis-Ekbom disease|Restless legs syndrome|Wittmaack-Ekbom syndrome	http://purl.obolibrary.org/obo/HP_0012452							
HP:0012453	biolink:PhenotypicFeature	Bilateral wrist flexion contracture	A chronic loss of wrist joint motion on the right and left sides.	UMLS:C4020723|UMLS:C4022899	hp.json	Bilateral wrist contracture	http://purl.obolibrary.org/obo/HP_0012453							
HP:0012454	biolink:PhenotypicFeature	Unilateral wrist flexion contracture	A chronic loss of wrist joint motion on one side only.	UMLS:C4020722|UMLS:C4022898	hp.json	Unilateral wrist contracture	http://purl.obolibrary.org/obo/HP_0012454							
HP:0012455	biolink:PhenotypicFeature	obsolete Large artery calcification			hp.json		http://purl.obolibrary.org/obo/HP_0012455							
HP:0012456	biolink:PhenotypicFeature	Medial arterial calcification	Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.	UMLS:C4022896	hp.json		http://purl.obolibrary.org/obo/HP_0012456							
HP:0012457	biolink:PhenotypicFeature	Medial calcification of medium-sized arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.	UMLS:C4022895	hp.json		http://purl.obolibrary.org/obo/HP_0012457							
HP:0012458	biolink:PhenotypicFeature	Medial calcification of small arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.	UMLS:C4022894	hp.json		http://purl.obolibrary.org/obo/HP_0012458							
HP:0012459	biolink:PhenotypicFeature	Hypnic headache	A headache disorder that occurs exclusively at night, waking the affected individual from sleep.	MSH:D051270|SNOMEDCT_US:122711000119109|UMLS:C0752150	hp.json	Alarm clock headache	http://purl.obolibrary.org/obo/HP_0012459							
HP:0012460	biolink:PhenotypicFeature	Dysmorphic inferior cerebellar vermis	A structural anomaly of the inferior portion of the vermis of cerebellum.	UMLS:C4022893	hp.json		http://purl.obolibrary.org/obo/HP_0012460							
HP:0012461	biolink:PhenotypicFeature	Bacteriuria	The presence of bacteria in the urine.	MSH:D001437|SNOMEDCT_US:61373006|UMLS:C0004659	hp.json	Bacteria in urine|High urine bacteria	http://purl.obolibrary.org/obo/HP_0012461							
HP:0012462	biolink:PhenotypicFeature	Chin myoclonus	Involuntary and irregular twitches of the chin.	MSH:C537682|UMLS:C1860972	hp.json	Geniospasm|Chin spasms	http://purl.obolibrary.org/obo/HP_0012462							
HP:0012463	biolink:PhenotypicFeature	Elevated transferrin saturation	An above normal level of saturation of serum transferrin with iron.	UMLS:C4022892	hp.json		http://purl.obolibrary.org/obo/HP_0012463							
HP:0012464	biolink:PhenotypicFeature	Decreased transferrin saturation	A below normal level of saturation of serum transferrin with iron.	UMLS:C0919785	hp.json		http://purl.obolibrary.org/obo/HP_0012464							
HP:0012465	biolink:PhenotypicFeature	Elevated hepatic iron concentration	An increased level of iron in liver tissues.	UMLS:C4022891	hp.json	Increased iron concentration in liver|Increased liver iron level	http://purl.obolibrary.org/obo/HP_0012465							
HP:0012466	biolink:PhenotypicFeature	Chronic respiratory acidosis	Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).	SNOMEDCT_US:8764008|UMLS:C0268048	hp.json		http://purl.obolibrary.org/obo/HP_0012466							
HP:0012467	biolink:PhenotypicFeature	Acute respiratory acidosis	Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).	SNOMEDCT_US:70644008|UMLS:C0268047	hp.json		http://purl.obolibrary.org/obo/HP_0012467							
HP:0012468	biolink:PhenotypicFeature	Chronic acidosis	Longstanding abnormal acid accumulation or depletion of base.	UMLS:C1735903	hp.json		http://purl.obolibrary.org/obo/HP_0012468							
HP:0012469	biolink:PhenotypicFeature	Infantile spasms	Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).	UMLS:C3887898	hp.json		http://purl.obolibrary.org/obo/HP_0012469							
HP:0012470	biolink:PhenotypicFeature	Setting-sun eye phenomenon	An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.	SNOMEDCT_US:63342001|UMLS:C0423128|UMLS:C4020721	hp.json	Setting-sun eye phenomenon|Sun setting eyes|Sunsetting eye|Eyes fixed downward	http://purl.obolibrary.org/obo/HP_0012470							
HP:0012471	biolink:PhenotypicFeature	Thick vermilion border	Increased width of the skin of vermilion border region of upper lip.	UMLS:C1836543	hp.json	Full lips|Increased volume of lip|Plump lips|Prominent lips|Thick lips|Increased volume of lip vermillion	http://purl.obolibrary.org/obo/HP_0012471							
HP:0012472	biolink:PhenotypicFeature	Eclabion	A turning outward of the lip or lips, that is, eversion of the lips.	UMLS:C3550430	hp.json	Outward turned lips|Eclabium|Everted lips	http://purl.obolibrary.org/obo/HP_0012472							
HP:0012473	biolink:PhenotypicFeature	Tongue atrophy	Wasting of the tongue.	SNOMEDCT_US:249382006|SNOMEDCT_US:50805004|UMLS:C0241423|UMLS:C0426494	hp.json	Wasting of the tongue|Atrophy of the tongue|Lingual atrophy|Lingual wasting	http://purl.obolibrary.org/obo/HP_0012473							
HP:0012474	biolink:PhenotypicFeature	Carotid artery occlusion	Complete obstruction of a carotid artery.	SNOMEDCT_US:266254007|SNOMEDCT_US:69798007|UMLS:C0265101	hp.json	Obstructed carotid artery	http://purl.obolibrary.org/obo/HP_0012474							
HP:0012475	biolink:PhenotypicFeature	Decreased circulating level of specific antibody	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.	SNOMEDCT_US:234556002|UMLS:C0398711	hp.json	Abnormal specific antibody response|Decreased specific antibody in blood|Specific antibody deficiency	http://purl.obolibrary.org/obo/HP_0012475							
HP:0012476	biolink:PhenotypicFeature	Decreased specific pneumococcal antibody level	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.	UMLS:C4022890	hp.json	Low pneumococcal antibody titer|Specific pneumococcal antibody deficiency	http://purl.obolibrary.org/obo/HP_0012476							
HP:0012477	biolink:PhenotypicFeature	Vocal tremor	A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.	UMLS:C4022889	hp.json	Shakey voice|Vocal tremor	http://purl.obolibrary.org/obo/HP_0012477							
HP:0012478	biolink:PhenotypicFeature	Temporomandibular joint ankylosis	Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.	MSH:C536957|SNOMEDCT_US:298231004|SNOMEDCT_US:50603008|SNOMEDCT_US:91866004|UMLS:C0575010|UMLS:C0685924|UMLS:C2931375	hp.json	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							
HP:0012479	biolink:PhenotypicFeature	Temporomandibular joint crepitus	Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.	SNOMEDCT_US:298377005|UMLS:C0575154|UMLS:C4280313|UMLS:C4280314|UMLS:C4280315	hp.json	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							
HP:0012480	biolink:PhenotypicFeature	Abnormal cerebral vein morphology	An anomaly of cerebral veins.	UMLS:C4022888	hp.json	Abnormality of cerebral veins	http://purl.obolibrary.org/obo/HP_0012480							
HP:0012481	biolink:PhenotypicFeature	Cerebral venous angioma	A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.	MSH:D020787|UMLS:C1956261	hp.json	Developmental Venous Anomaly	http://purl.obolibrary.org/obo/HP_0012481							
HP:0012482	biolink:PhenotypicFeature	Frontal venous angioma	A venous angioma of the frontal lobe of the brain.	UMLS:C4022887	hp.json		http://purl.obolibrary.org/obo/HP_0012482							
HP:0012483	biolink:PhenotypicFeature	Abnormal alpha granules	Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.	UMLS:C4022886	hp.json		http://purl.obolibrary.org/obo/HP_0012483							
HP:0012484	biolink:PhenotypicFeature	Abnormal dense granules	Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.	UMLS:C4022885	hp.json		http://purl.obolibrary.org/obo/HP_0012484							
HP:0012485	biolink:PhenotypicFeature	Abnormal surface-connected open canalicular system	An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.	UMLS:C4021840	hp.json		http://purl.obolibrary.org/obo/HP_0012485							
HP:0012486	biolink:PhenotypicFeature	Myelitis	Inflammation of the spinal cord.	MSH:D009187|SNOMEDCT_US:41370002|UMLS:C0026975	hp.json	Inflammation of spinal cord	http://purl.obolibrary.org/obo/HP_0012486							
HP:0012487	biolink:PhenotypicFeature	Cerebellopontine angle arachnoid cyst	An arachnoid cyst located at the margin of the cerebellum and pons.	UMLS:C4022884	hp.json		http://purl.obolibrary.org/obo/HP_0012487							
HP:0012488	biolink:PhenotypicFeature	Intraventricular arachnoid cyst	An arachnoid cyst located within the ventricular system.	UMLS:C4022883	hp.json		http://purl.obolibrary.org/obo/HP_0012488							
HP:0012489	biolink:PhenotypicFeature	Suprasellar arachnoid cyst	An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.	UMLS:C4022882	hp.json		http://purl.obolibrary.org/obo/HP_0012489							
HP:0012490	biolink:PhenotypicFeature	Panniculitis	Inflammation of adipose tissue.	MSH:D015434|SNOMEDCT_US:22125009|UMLS:C0030326	hp.json	Inflammation of fat tissue|Inflammation of adipose tissue	http://purl.obolibrary.org/obo/HP_0012490							
HP:0012491	biolink:PhenotypicFeature	Abnormal dense tubular system	An anomaly of the intracellular membrane complexes known as the dense tubular system.	UMLS:C4022881	hp.json		http://purl.obolibrary.org/obo/HP_0012491							
HP:0012492	biolink:PhenotypicFeature	Cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of a cerebral artery.	UMLS:C1504438	hp.json	Narrowing of a cerebral artery	http://purl.obolibrary.org/obo/HP_0012492							
HP:0012493	biolink:PhenotypicFeature	Middle cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.	SNOMEDCT_US:21290001000004104|UMLS:C1504568	hp.json		http://purl.obolibrary.org/obo/HP_0012493							
HP:0012494	biolink:PhenotypicFeature	Anterior cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.	UMLS:C1504567	hp.json		http://purl.obolibrary.org/obo/HP_0012494							
HP:0012495	biolink:PhenotypicFeature	Posterior cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.	UMLS:C1504569	hp.json		http://purl.obolibrary.org/obo/HP_0012495							
HP:0012496	biolink:PhenotypicFeature	Reduced maximal inspiratory pressure	A decrease in the maximum amount of negative pressure a person can generate during an inhalation.	UMLS:C4022880	hp.json		http://purl.obolibrary.org/obo/HP_0012496							
HP:0012497	biolink:PhenotypicFeature	Reduced maximal expiratory pressure	A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.	UMLS:C4022879	hp.json		http://purl.obolibrary.org/obo/HP_0012497							
HP:0012498	biolink:PhenotypicFeature	Nuchal cord	A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.	MSH:D053589|SNOMEDCT_US:302929008|UMLS:C0405124	hp.json		http://purl.obolibrary.org/obo/HP_0012498							
HP:0012499	biolink:PhenotypicFeature	Descending aortic dissection	A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.	UMLS:C4022878	hp.json	Type B aortic dissection	http://purl.obolibrary.org/obo/HP_0012499							
HP:0012500	biolink:PhenotypicFeature	Verrucous papule	A wartlike (with multiple small elevated projections) papule.	UMLS:C4022877	hp.json	Papillomatous papule	http://purl.obolibrary.org/obo/HP_0012500							
HP:0012501	biolink:PhenotypicFeature	Abnormality of the brainstem white matter	An anomaly of the white matter of brainstem.	UMLS:C4022876	hp.json		http://purl.obolibrary.org/obo/HP_0012501							
HP:0012502	biolink:PhenotypicFeature	Abnormality of the internal capsule	An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.	UMLS:C4022875	hp.json		http://purl.obolibrary.org/obo/HP_0012502							
HP:0012503	biolink:PhenotypicFeature	Abnormality of the pituitary gland	An anomaly of the pituitary gland.	MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002	hp.json	disorder of pituitary gland	http://purl.obolibrary.org/obo/HP_0012503							
HP:0012504	biolink:PhenotypicFeature	Abnormal size of pituitary gland	A deviation from the normal size of the pituitary gland.	UMLS:C4022874	hp.json		http://purl.obolibrary.org/obo/HP_0012504							
HP:0012505	biolink:PhenotypicFeature	Enlarged pituitary gland	An abnormally increased size of the pituitary gland.	SNOMEDCT_US:237718009|UMLS:C0342422	hp.json		http://purl.obolibrary.org/obo/HP_0012505							
HP:0012506	biolink:PhenotypicFeature	Small pituitary gland	An abnormally decreased size of the pituitary gland.	UMLS:C4022873	hp.json		http://purl.obolibrary.org/obo/HP_0012506							
HP:0012507	biolink:PhenotypicFeature	Weakness of orbicularis oculi muscle	Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.	UMLS:C1839030	hp.json	Weakness of orbicularis oculi muscles	http://purl.obolibrary.org/obo/HP_0012507							
HP:0012508	biolink:PhenotypicFeature	Metamorphopsia	A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.	MSH:D014786|SNOMEDCT_US:42134006|UMLS:C0271185	hp.json		http://purl.obolibrary.org/obo/HP_0012508							
HP:0012509	biolink:PhenotypicFeature	Reduced thyroxin-binding globulin	An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.	UMLS:C4022872	hp.json		http://purl.obolibrary.org/obo/HP_0012509							
HP:0012510	biolink:PhenotypicFeature	Extra-axial cerebrospinal fluid accumulation	An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.	UMLS:C4022871	hp.json	Extra-axial CSF accumulation	http://purl.obolibrary.org/obo/HP_0012510							
HP:0012511	biolink:PhenotypicFeature	Temporal optic disc pallor	A pale yellow discoloration of the temporal (lateral) portion of the optic disc.	SNOMEDCT_US:247220006|UMLS:C0344299	hp.json		http://purl.obolibrary.org/obo/HP_0012511							
HP:0012512	biolink:PhenotypicFeature	Diffuse optic disc pallor	A pale yellow discoloration of the entire optic disc.	UMLS:C4022870	hp.json		http://purl.obolibrary.org/obo/HP_0012512							
HP:0012513	biolink:PhenotypicFeature	Upper limb pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.	SNOMEDCT_US:102556003|UMLS:C0239377	hp.json	Upper limb pain	http://purl.obolibrary.org/obo/HP_0012513							
HP:0012514	biolink:PhenotypicFeature	Lower limb pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.	SNOMEDCT_US:10601006|UMLS:C0023222	hp.json	Leg pain|Lower limb pain	http://purl.obolibrary.org/obo/HP_0012514							
HP:0012515	biolink:PhenotypicFeature	Hip flexor weakness	Reduced ability to flex the femur, that is, to pull the knee upward.	UMLS:C3279725	hp.json		http://purl.obolibrary.org/obo/HP_0012515							
HP:0012516	biolink:PhenotypicFeature	Tetralogy of Fallot with pulmonary atresia	An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.	SNOMEDCT_US:253513005|UMLS:C0344882	hp.json		http://purl.obolibrary.org/obo/HP_0012516							
HP:0012517	biolink:PhenotypicFeature	Reduced catalase level	An abnormally decreased amount of catalase level.	UMLS:C4022869	hp.json		http://purl.obolibrary.org/obo/HP_0012517							
HP:0012518	biolink:PhenotypicFeature	Abnormal circle of Willis morphology	An anomaly of the circle of Willis, also known as the cerebral arterial circle.	UMLS:C4022868	hp.json	Abnormality of the cerebral arterial circle	http://purl.obolibrary.org/obo/HP_0012518							
HP:0012519	biolink:PhenotypicFeature	Hypoplastic posterior communicating artery	Underdeveloped posterior communicating artery.	UMLS:C4020720	hp.json	Hypoplastic posterior communicating arteries	http://purl.obolibrary.org/obo/HP_0012519							
HP:0012520	biolink:PhenotypicFeature	Perivascular spaces	Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.	UMLS:C1853618|UMLS:C4020719	hp.json	Dilatation of Virchow-Robin spaces|Dilated Virchow-Robin spaces|Dilated cerebral perivascular spaces	http://purl.obolibrary.org/obo/HP_0012520							
HP:0012521	biolink:PhenotypicFeature	Optic nerve aplasia	Congenital absence of the optic nerve.	UMLS:C4021084	hp.json	Absent optic nerve|Aplastic optic nerve	http://purl.obolibrary.org/obo/HP_0012521							
HP:0012522	biolink:PhenotypicFeature	Spider hemangioma	A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.	UMLS:C4022867	hp.json		http://purl.obolibrary.org/obo/HP_0012522							
HP:0012523	biolink:PhenotypicFeature	Oral aversion	Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).	UMLS:C3665983	hp.json		http://purl.obolibrary.org/obo/HP_0012523							
HP:0012524	biolink:PhenotypicFeature	Abnormal platelet shape	A deviation from the normal discoid platelet shape.	UMLS:C4022866	hp.json		http://purl.obolibrary.org/obo/HP_0012524							
HP:0012525	biolink:PhenotypicFeature	Abnormal alpha granule distribution	An anomalous location and arrangement of platelet alpha granules.	UMLS:C4022865	hp.json		http://purl.obolibrary.org/obo/HP_0012525							
HP:0012526	biolink:PhenotypicFeature	Absence of alpha granules	A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.	UMLS:C4022864	hp.json	Grey platelets|Gray platelets	http://purl.obolibrary.org/obo/HP_0012526							
HP:0012527	biolink:PhenotypicFeature	Abnormal alpha granule content	A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.	UMLS:C4022863	hp.json		http://purl.obolibrary.org/obo/HP_0012527							
HP:0012528	biolink:PhenotypicFeature	Abnormal number of alpha granules	A deviation from the normal count of alpha granules per thrombocyte.	UMLS:C4022862	hp.json		http://purl.obolibrary.org/obo/HP_0012528							
HP:0012529	biolink:PhenotypicFeature	Abnormal dense granule content	A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.	UMLS:C4021839	hp.json		http://purl.obolibrary.org/obo/HP_0012529							
HP:0012530	biolink:PhenotypicFeature	Abnormal number of dense granules	A deviation from the normal count of dense granules per thrombocyte.	UMLS:C4022861	hp.json		http://purl.obolibrary.org/obo/HP_0012530							
HP:0012531	biolink:PhenotypicFeature	Pain	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.	MSH:D010146|SNOMEDCT_US:22253000|UMLS:C0030193	hp.json	Pain	http://purl.obolibrary.org/obo/HP_0012531							
HP:0012532	biolink:PhenotypicFeature	Chronic pain	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.	MSH:D059350|SNOMEDCT_US:82423001|UMLS:C0150055	hp.json	Chronic pain|Long-lasting pain	http://purl.obolibrary.org/obo/HP_0012532							
HP:0012533	biolink:PhenotypicFeature	Allodynia	Pain due to a stimulus that does not normally provoke pain.	MSH:D006930|SNOMEDCT_US:247404004|UMLS:C0458247	hp.json		http://purl.obolibrary.org/obo/HP_0012533							
HP:0012534	biolink:PhenotypicFeature	Dysesthesia	Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.	MSH:D010292|SNOMEDCT_US:279079003|UMLS:C0392699	hp.json	Dysaesthesia|Hyperalgesia|Hyperpathia|Dysesthesias	http://purl.obolibrary.org/obo/HP_0012534							
HP:0012535	biolink:PhenotypicFeature	Abnormal synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.	UMLS:C4021083	hp.json	Abnormality of neurotransmitter metabolism	http://purl.obolibrary.org/obo/HP_0012535							
HP:0012536	biolink:PhenotypicFeature	Maternal anticardiolipin antibody positive	The presence of circulating autoantibodies to anticardiolipin in the mother.	UMLS:C4022860	hp.json		http://purl.obolibrary.org/obo/HP_0012536							
HP:0012537	biolink:PhenotypicFeature	Food intolerance	A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.	SNOMEDCT_US:235719002|UMLS:C0149696	hp.json	Food intolerance|Non-allergic food hypersensitivity	http://purl.obolibrary.org/obo/HP_0012537							
HP:0012538	biolink:PhenotypicFeature	Gluten intolerance	A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.	MSH:D002446|SNOMEDCT_US:396331005|SNOMEDCT_US:441831003|UMLS:C0007570|UMLS:C0850024	hp.json	Gluten intolerance|Gluten sensitivity	http://purl.obolibrary.org/obo/HP_0012538							
HP:0012539	biolink:PhenotypicFeature	Non-Hodgkin lymphoma	A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.	MSH:D008228|SNOMEDCT_US:118601006|SNOMEDCT_US:128929007|SNOMEDCT_US:188675007|SNOMEDCT_US:1929004|UMLS:C0024305	hp.json		http://purl.obolibrary.org/obo/HP_0012539							
HP:0012540	biolink:PhenotypicFeature	Axillary epidermoid cyst	An epidermoid cyst in the armpit.	UMLS:C4022859	hp.json	Armpit cyst	http://purl.obolibrary.org/obo/HP_0012540							
HP:0012541	biolink:PhenotypicFeature	Cephalohematoma	Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.	SNOMEDCT_US:206200000|SNOMEDCT_US:83095000|UMLS:C0007722	hp.json	Cephalohaematoma	http://purl.obolibrary.org/obo/HP_0012541							
HP:0012542	biolink:PhenotypicFeature	Onychauxis	Thickened nails without deformity.	SNOMEDCT_US:30654002|UMLS:C0263536	hp.json		http://purl.obolibrary.org/obo/HP_0012542							
HP:0012543	biolink:PhenotypicFeature	Hemosiderinuria	The presence of hemosiderin in the urine.	UMLS:C2721579	hp.json		http://purl.obolibrary.org/obo/HP_0012543							
HP:0012544	biolink:PhenotypicFeature	Elevated aldolase level	An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.	UMLS:C4022858	hp.json		http://purl.obolibrary.org/obo/HP_0012544							
HP:0012545	biolink:PhenotypicFeature	Reduced aldolase level	An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.	UMLS:C4022857	hp.json		http://purl.obolibrary.org/obo/HP_0012545							
HP:0012546	biolink:PhenotypicFeature	Skewed maternal X inactivation	A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.	UMLS:C4022856	hp.json		http://purl.obolibrary.org/obo/HP_0012546							
HP:0012547	biolink:PhenotypicFeature	Abnormal involuntary eye movements	Anomalous movements of the eyes that occur without the subject wanting them to happen.	UMLS:C4022855	hp.json		http://purl.obolibrary.org/obo/HP_0012547							
HP:0012548	biolink:PhenotypicFeature	Fatty replacement of skeletal muscle	Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers	UMLS:C4021082	hp.json	Skeletal muscle fatty infiltration	http://purl.obolibrary.org/obo/HP_0012548							
HP:0012549	biolink:PhenotypicFeature	Conjunctival lipoma	A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.	NCIT:C3192|UMLS:C4022854	hp.json		http://purl.obolibrary.org/obo/HP_0012549							
HP:0012550	biolink:PhenotypicFeature	Colonic varices	The presence of varices (enlarged and convoluted blood vessels) in the colon.	UMLS:C4022853	hp.json		http://purl.obolibrary.org/obo/HP_0012550							
HP:0012551	biolink:PhenotypicFeature	Absent neutrophil specific granules	Lack of specific granules in neutrophils.	UMLS:C4022852	hp.json		http://purl.obolibrary.org/obo/HP_0012551							
HP:0012552	biolink:PhenotypicFeature	Increased neutrophil nuclear projections	Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.	UMLS:C4022851	hp.json		http://purl.obolibrary.org/obo/HP_0012552							
HP:0012553	biolink:PhenotypicFeature	Hypoplastic thumbnail	A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.	UMLS:C4022850	hp.json	Small thumbnail|Underdeveloped thumbnail	http://purl.obolibrary.org/obo/HP_0012553							
HP:0012554	biolink:PhenotypicFeature	Absent thumbnail	Absence of thumb nail.	UMLS:C4022849	hp.json		http://purl.obolibrary.org/obo/HP_0012554							
HP:0012555	biolink:PhenotypicFeature	Absent nail of hallux	Absent nail of big toe.	UMLS:C4021081	hp.json	Absent big toe nail|Absent nail of big toe	http://purl.obolibrary.org/obo/HP_0012555							
HP:0012556	biolink:PhenotypicFeature	Hyperbeta-alaninemia	Increased concentration of beta-alanine in the blood.	UMLS:C4021080	hp.json	High blood beta-alanine levels|Hyperbeta-alaninemia|Hyperbetaalaninemia	http://purl.obolibrary.org/obo/HP_0012556							
HP:0012557	biolink:PhenotypicFeature	EEG with centrotemporal focal spike waves	EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	UMLS:C4022848	hp.json		http://purl.obolibrary.org/obo/HP_0012557							
HP:0012558	biolink:PhenotypicFeature	Abnormal T3/T4 ratio	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.	UMLS:C4022847	hp.json		http://purl.obolibrary.org/obo/HP_0012558							
HP:0012559	biolink:PhenotypicFeature	Increased T3/T4 ratio	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.	UMLS:C4022846	hp.json		http://purl.obolibrary.org/obo/HP_0012559							
HP:0012560	biolink:PhenotypicFeature	Decreased T3/T4 ratio	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.	UMLS:C4022845	hp.json		http://purl.obolibrary.org/obo/HP_0012560							
HP:0012561	biolink:PhenotypicFeature	Unicuspid aortic valve	The presence of an aortic valve with one instead of the normal three cusps (flaps).	SNOMEDCT_US:253610004|UMLS:C0345001	hp.json		http://purl.obolibrary.org/obo/HP_0012561							
HP:0012562	biolink:PhenotypicFeature	Premature epimetaphyseal fusion in hand	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	UMLS:C4022844	hp.json		http://purl.obolibrary.org/obo/HP_0012562							
HP:0012563	biolink:PhenotypicFeature	Premature epimetaphyseal fusion in foot	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	UMLS:C4022843	hp.json		http://purl.obolibrary.org/obo/HP_0012563							
HP:0012564	biolink:PhenotypicFeature	Premature epimetaphyseal fusion in tibia	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	UMLS:C4022842	hp.json		http://purl.obolibrary.org/obo/HP_0012564							
HP:0012565	biolink:PhenotypicFeature	Premature epimetaphyseal fusion in fibula	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	UMLS:C4021838	hp.json		http://purl.obolibrary.org/obo/HP_0012565							
HP:0012566	biolink:PhenotypicFeature	Premature epimetaphyseal fusion in radius	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	UMLS:C4022841	hp.json		http://purl.obolibrary.org/obo/HP_0012566							
HP:0012567	biolink:PhenotypicFeature	Premature epimetaphyseal fusion in ulna	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.	UMLS:C4022840	hp.json		http://purl.obolibrary.org/obo/HP_0012567							
HP:0012568	biolink:PhenotypicFeature	Lower eyelid edema	Edema in the region of the Lower eyelid.	SNOMEDCT_US:700327003|UMLS:C2025810|UMLS:C3839997	hp.json	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							
HP:0012569	biolink:PhenotypicFeature	Delayed menarche	First period after the age of 15 years.	UMLS:C0949173	hp.json	Delayed start of first period	http://purl.obolibrary.org/obo/HP_0012569							
HP:0012570	biolink:PhenotypicFeature	Synovial sarcoma	A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.	MSH:D013584|SNOMEDCT_US:302851001|SNOMEDCT_US:63211008|UMLS:C0039101	hp.json	Malignant synovioma	http://purl.obolibrary.org/obo/HP_0012570							
HP:0012571	biolink:PhenotypicFeature	Ureter fissus	A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.	ICD-10:Q62.5|UMLS:C4021079	hp.json	Partially duplicated ureter	http://purl.obolibrary.org/obo/HP_0012571							
HP:0012572	biolink:PhenotypicFeature	Ureter duplex	A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.	ICD-10:Q62.5|SNOMEDCT_US:49496001|UMLS:C0221365	hp.json		http://purl.obolibrary.org/obo/HP_0012572							
HP:0012573	biolink:PhenotypicFeature	Global proximal tubulopathy	A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.	UMLS:C4022839	hp.json		http://purl.obolibrary.org/obo/HP_0012573							
HP:0012574	biolink:PhenotypicFeature	Mesangial hypercellularity	Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.	SNOMEDCT_US:125510009|UMLS:C0545017	hp.json	Mesangial proliferation	http://purl.obolibrary.org/obo/HP_0012574							
HP:0012575	biolink:PhenotypicFeature	Abnormal nephron morphology	A structural anomaly of the nephron.	UMLS:C4022838	hp.json	Abnormality of the nephron	http://purl.obolibrary.org/obo/HP_0012575							
HP:0012576	biolink:PhenotypicFeature	Glomerular C3 deposition	The presence of complement 3 deposits in the glomerulus.	UMLS:C4022837	hp.json	Renal C3 deposition|C3 nephropathy	http://purl.obolibrary.org/obo/HP_0012576							
HP:0012577	biolink:PhenotypicFeature	Thin glomerular basement membrane	Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.	UMLS:C3276821	hp.json		http://purl.obolibrary.org/obo/HP_0012577							
HP:0012578	biolink:PhenotypicFeature	Membranous nephropathy	A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.	MSH:D015433|SNOMEDCT_US:77182004|UMLS:C0017665	hp.json	Membranous glomerulonephritis	http://purl.obolibrary.org/obo/HP_0012578							
HP:0012579	biolink:PhenotypicFeature	Minimal change glomerulonephritis	The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.	MSH:D009402|SNOMEDCT_US:44785005|UMLS:C0027721	hp.json	Minimal change disease|Minimal change nephropathy	http://purl.obolibrary.org/obo/HP_0012579							
HP:0012580	biolink:PhenotypicFeature	Calcium phosphate nephrolithiasis	The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.	UMLS:C3671880	hp.json	Ca phosphate nephrolithiasis|Ca phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca2+ phosphate urolithiasis|Calcium phosphate urolithiasis	http://purl.obolibrary.org/obo/HP_0012580							
HP:0012581	biolink:PhenotypicFeature	Simple renal cyst	An isolated cyst of the kidney.	SNOMEDCT_US:77945009|UMLS:C0268800|UMLS:C4022836	hp.json	Simple kidney cyst|Solitary renal cyst	http://purl.obolibrary.org/obo/HP_0012581							
HP:0012582	biolink:PhenotypicFeature	Bilateral renal dysplasia	A bilateral form of developmental dysplasia of the kidney.	SNOMEDCT_US:204950001|UMLS:C0431698	hp.json		http://purl.obolibrary.org/obo/HP_0012582							
HP:0012583	biolink:PhenotypicFeature	Unilateral renal hypoplasia	One sided hypoplasia of the kidney.	SNOMEDCT_US:204948009|UMLS:C0431691	hp.json	Small kidney on one side|Underdeveloped kidney on one side	http://purl.obolibrary.org/obo/HP_0012583							
HP:0012584	biolink:PhenotypicFeature	Bilateral renal hypoplasia	Two sided hypoplasia of the kidney.	SNOMEDCT_US:268232000|UMLS:C0431692	hp.json		http://purl.obolibrary.org/obo/HP_0012584							
HP:0012585	biolink:PhenotypicFeature	Renal atrophy	Atrophy of the kidney.	SNOMEDCT_US:197659005|UMLS:C0341698	hp.json	Kidney degeneration	http://purl.obolibrary.org/obo/HP_0012585							
HP:0012586	biolink:PhenotypicFeature	Bilateral renal atrophy	A two-sided form of atrophy of the kidney.	UMLS:C4022835	hp.json	Bilateral kidney degeneration	http://purl.obolibrary.org/obo/HP_0012586							
HP:0012587	biolink:PhenotypicFeature	Macroscopic hematuria	Hematuria that is visible upon inspection of the urine.	SNOMEDCT_US:197941005|UMLS:C0473237	hp.json	Bloody urine|Gross hematuria	http://purl.obolibrary.org/obo/HP_0012587							
HP:0012588	biolink:PhenotypicFeature	Steroid-resistant nephrotic syndrome	A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.	SNOMEDCT_US:236381000|UMLS:C0403397	hp.json	SRNS	http://purl.obolibrary.org/obo/HP_0012588							
HP:0012589	biolink:PhenotypicFeature	Multidrug-resistant nephrotic syndrome	A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.	UMLS:C4022834	hp.json		http://purl.obolibrary.org/obo/HP_0012589							
HP:0012590	biolink:PhenotypicFeature	Abnormal urine output	An abnormal amount of urine production.	UMLS:C3693260	hp.json		http://purl.obolibrary.org/obo/HP_0012590							
HP:0012591	biolink:PhenotypicFeature	Abnormal urinary electrolyte concentration	An abnormality in the concentration of electrolytes in the urine.	UMLS:C4022833	hp.json	Urinary electrolyte imbalance	http://purl.obolibrary.org/obo/HP_0012591							
HP:0012592	biolink:PhenotypicFeature	Albuminuria	Increased concentration of albumin in the urine.	MSH:D000419|SNOMEDCT_US:274769005|UMLS:C0001925	hp.json		http://purl.obolibrary.org/obo/HP_0012592							
HP:0012593	biolink:PhenotypicFeature	Nephrotic range proteinuria	Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.	SNOMEDCT_US:264867001|UMLS:C0445118	hp.json		http://purl.obolibrary.org/obo/HP_0012593							
HP:0012594	biolink:PhenotypicFeature	Moderate albuminuria	The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).	SNOMEDCT_US:312975006|UMLS:C0730345|UMLS:C1654921	hp.json	High urine albumin levels|Microalbuminuria	http://purl.obolibrary.org/obo/HP_0012594							
HP:0012595	biolink:PhenotypicFeature	Mild proteinuria	Mildly increased levels of protein in the urine (150-500 mg per day in adults).	UMLS:C4022832	hp.json		http://purl.obolibrary.org/obo/HP_0012595							
HP:0012596	biolink:PhenotypicFeature	Moderate proteinuria	Moderately increased levels of protein in the urine (500-1000 mg per day in adults).	UMLS:C4022831	hp.json		http://purl.obolibrary.org/obo/HP_0012596							
HP:0012597	biolink:PhenotypicFeature	Heavy proteinuria	Severely increased levels of protein in the urine (1000-3000 mg per day in adults).	UMLS:C4022830	hp.json	Severly high blood protein levels	http://purl.obolibrary.org/obo/HP_0012597							
HP:0012598	biolink:PhenotypicFeature	Abnormal urine potassium concentration	An abnormal concentration of potassium(1+) in the urine.	UMLS:C4022829	hp.json	Abnormal urine K concentration	http://purl.obolibrary.org/obo/HP_0012598							
HP:0012599	biolink:PhenotypicFeature	Abnormal urine phosphate concentration	An abnormal phosphate concentration in the urine.	UMLS:C4022828	hp.json		http://purl.obolibrary.org/obo/HP_0012599							
HP:0012600	biolink:PhenotypicFeature	Abnormal urine chloride concentration	An abnormal concentration of chloride in the urine.	UMLS:C4022827	hp.json	Abnormal urine Cl concentration|Abnormal urine Cl- concentration	http://purl.obolibrary.org/obo/HP_0012600							
HP:0012601	biolink:PhenotypicFeature	Hypochloriduria	An decreased concentration of chloride in the urine.	UMLS:C4021078	hp.json	Low urine chloride levels|Decreased urinary chloride	http://purl.obolibrary.org/obo/HP_0012601							
HP:0012602	biolink:PhenotypicFeature	Renal chloride wasting	High urine chloride in the presence of hypochloridemia.	UMLS:C4022826	hp.json	Renal Cl wasting|Renal Cl- wasting|Kidney chloride wasting	http://purl.obolibrary.org/obo/HP_0012602							
HP:0012603	biolink:PhenotypicFeature	Abnormal urine sodium concentration	An abnormal concentration of sodium in the urine.	UMLS:C4022825	hp.json	Abnormal urine Na concentration|Abnormal urine Na+ levels	http://purl.obolibrary.org/obo/HP_0012603							
HP:0012604	biolink:PhenotypicFeature	Hyponatriuria	An abnormally decreased sodium concentration in the urine.	UMLS:C4022824	hp.json	Low urine sodium levels	http://purl.obolibrary.org/obo/HP_0012604							
HP:0012605	biolink:PhenotypicFeature	Hypernatriuria	An increased concentration of sodium(1+) in the urine.	UMLS:C3671887	hp.json	Increased urinary sodium	http://purl.obolibrary.org/obo/HP_0012605							
HP:0012606	biolink:PhenotypicFeature	Renal sodium wasting	An abnormally increased sodium concentration in the urine in the presence of hyponatremia.	UMLS:C2748576	hp.json	Renal Na wasting|Renal Na+ wasting|Kidney sodium wasting	http://purl.obolibrary.org/obo/HP_0012606							
HP:0012607	biolink:PhenotypicFeature	Abnormal urine magnesium concentration	An abnormal concentration of magnesium the urine.	UMLS:C4022823	hp.json	Abnormal urine magnesium concentration	http://purl.obolibrary.org/obo/HP_0012607							
HP:0012608	biolink:PhenotypicFeature	Hypermagnesiuria	An increased concentration of magnesium the urine.	UMLS:C2673443	hp.json		http://purl.obolibrary.org/obo/HP_0012608							
HP:0012609	biolink:PhenotypicFeature	Hypomagnesiuria	An decreased concentration of magnesium the urine.	UMLS:C3203528	hp.json	Decreased urine magnesium|Low urine magnesium levels	http://purl.obolibrary.org/obo/HP_0012609							
HP:0012610	biolink:PhenotypicFeature	Abnormality of urinary uric acid concentration	Abnormal concentration of urate in the urine.	UMLS:C4022822	hp.json		http://purl.obolibrary.org/obo/HP_0012610							
HP:0012611	biolink:PhenotypicFeature	Increased urinary urate	Elevated concentration of urate in the urine.	UMLS:C0878672	hp.json		http://purl.obolibrary.org/obo/HP_0012611							
HP:0012612	biolink:PhenotypicFeature	Abnormal urinary sulfate concentration	Abnormal concentration of sulfate in the urine.	UMLS:C4022821	hp.json	Abnormal urinary sulphate concentration	http://purl.obolibrary.org/obo/HP_0012612							
HP:0012613	biolink:PhenotypicFeature	Increased urinary sulfate	Elevated concentration of SO4(2-), i.e., sulfate, in the urine.	UMLS:C4022820	hp.json	Increased urinary sulphate	http://purl.obolibrary.org/obo/HP_0012613							
HP:0012614	biolink:PhenotypicFeature	Abnormal urine cytology	An anomalous finding in the examination of the urine for cells.	SNOMEDCT_US:310439007|UMLS:C0587955	hp.json		http://purl.obolibrary.org/obo/HP_0012614							
HP:0012615	biolink:PhenotypicFeature	Cylindruria	The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.	SNOMEDCT_US:5277004|UMLS:C0151990	hp.json	Urinary casts	http://purl.obolibrary.org/obo/HP_0012615							
HP:0012616	biolink:PhenotypicFeature	Leukocyte cylindruria	Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.	UMLS:C4022819	hp.json	White blood cell casts	http://purl.obolibrary.org/obo/HP_0012616							
HP:0012617	biolink:PhenotypicFeature	Erythrocyte cylindruria	Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.	UMLS:C4022818	hp.json	Red blood cell casts|Urinary erythrocyte cast	http://purl.obolibrary.org/obo/HP_0012617							
HP:0012618	biolink:PhenotypicFeature	Urachal cyst	A cyst located along the allantois canal.	MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915	hp.json		http://purl.obolibrary.org/obo/HP_0012618							
HP:0012619	biolink:PhenotypicFeature	Multiple bladder diverticula	Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.	UMLS:C4022817	hp.json	Multiple pouches in bladder wall	http://purl.obolibrary.org/obo/HP_0012619							
HP:0012620	biolink:PhenotypicFeature	Cloacal abnormality	A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.	UMLS:C4022816	hp.json		http://purl.obolibrary.org/obo/HP_0012620							
HP:0012621	biolink:PhenotypicFeature	Persistent cloaca	Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.	SNOMEDCT_US:74829002|UMLS:C0266225	hp.json	Cloacogenic bladder	http://purl.obolibrary.org/obo/HP_0012621							
HP:0012622	biolink:PhenotypicFeature	Chronic kidney disease	Functional anomaly of the kidney persisting for at least three months.	MSH:D051436|SNOMEDCT_US:709044004|UMLS:C0748318|UMLS:C1561643	hp.json	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							
HP:0012623	biolink:PhenotypicFeature	Stage 1 chronic kidney disease	A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).	SNOMEDCT_US:431855005|UMLS:C2316401	hp.json		http://purl.obolibrary.org/obo/HP_0012623							
HP:0012624	biolink:PhenotypicFeature	Stage 2 chronic kidney disease	A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).	SNOMEDCT_US:431856006|UMLS:C2316786	hp.json		http://purl.obolibrary.org/obo/HP_0012624							
HP:0012625	biolink:PhenotypicFeature	Stage 3 chronic kidney disease	A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).	SNOMEDCT_US:433144002|UMLS:C2316787	hp.json		http://purl.obolibrary.org/obo/HP_0012625							
HP:0012626	biolink:PhenotypicFeature	Stage 4 chronic kidney disease	A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).	SNOMEDCT_US:431857002|UMLS:C2317473	hp.json	Stage 4 chronic kidney disease	http://purl.obolibrary.org/obo/HP_0012626							
HP:0012627	biolink:PhenotypicFeature	Pseudoexfoliation	Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.	UMLS:C4022815	hp.json		http://purl.obolibrary.org/obo/HP_0012627							
HP:0012628	biolink:PhenotypicFeature	Abnormal suspensory ligament of lens morphology	An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.	UMLS:C4021077	hp.json	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							
HP:0012629	biolink:PhenotypicFeature	Phakodonesis	Tremulousness (trembling) of the lens of the eye.	SNOMEDCT_US:116669003|UMLS:C2939415	hp.json	Trembling eye lens|Phacodonesis	http://purl.obolibrary.org/obo/HP_0012629							
HP:0012630	biolink:PhenotypicFeature	Abnormal trabecular meshwork morphology	An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.	UMLS:C4022814	hp.json	Abnormality of the trabecular meshwork	http://purl.obolibrary.org/obo/HP_0012630							
HP:0012631	biolink:PhenotypicFeature	Pigment deposition in the trabecular meshwork	Accumulation of abnormal amounts of pigment within the trabecular meshwork.	UMLS:C3805899	hp.json		http://purl.obolibrary.org/obo/HP_0012631							
HP:0012632	biolink:PhenotypicFeature	Abnormal intraocular pressure	An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.	MP:0005257|SNOMEDCT_US:24075007|UMLS:C0520999	hp.json	Abnormal eye pressure|Abnormal intraocular pressure	http://purl.obolibrary.org/obo/HP_0012632							
HP:0012633	biolink:PhenotypicFeature	Asymmetry of intraocular pressure	A difference in the amount of intraocular pressure in the right and left eye.	UMLS:C3805901	hp.json		http://purl.obolibrary.org/obo/HP_0012633							
HP:0012634	biolink:PhenotypicFeature	Iris pigment dispersion	Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.	UMLS:C4022813	hp.json		http://purl.obolibrary.org/obo/HP_0012634							
HP:0012635	biolink:PhenotypicFeature	Iris hypoperfusion	Reduction in the amount of blood flow to the iris.	UMLS:C4022812	hp.json		http://purl.obolibrary.org/obo/HP_0012635							
HP:0012636	biolink:PhenotypicFeature	Retinal vein occlusion	Blockage of the retinal vein.	MSH:D012170|SNOMEDCT_US:46085004|UMLS:C0035328	hp.json		http://purl.obolibrary.org/obo/HP_0012636							
HP:0012637	biolink:PhenotypicFeature	Renal calcium wasting	High urine calcium in the presence of hypocalcemia.	UMLS:C2673441	hp.json	Renal Ca wasting|Renal Ca2+ wasting|Kidney Ca wasting|Kidney Ca2+ wasting|Kidney calcium wasting	http://purl.obolibrary.org/obo/HP_0012637							
HP:0012638	biolink:PhenotypicFeature	Abnormal nervous system physiology	A functional anomaly of the nervous system.	UMLS:C4022811	hp.json	Abnormality of nervous system physiology	http://purl.obolibrary.org/obo/HP_0012638							
HP:0012639	biolink:PhenotypicFeature	Abnormal nervous system morphology	A structural anomaly of the nervous system.	Fyler:4135|Fyler:4300|UMLS:C4022810	hp.json	Abnormal shape of nervous system|Abnormal nervous system morphology|Abnormality of nervous system morphology	http://purl.obolibrary.org/obo/HP_0012639							
HP:0012640	biolink:PhenotypicFeature	Abnormality of intracranial pressure	A deviation from the norm of the intracranial pressure.	UMLS:C4022809	hp.json		http://purl.obolibrary.org/obo/HP_0012640							
HP:0012641	biolink:PhenotypicFeature	Decreased intracranial pressure	A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.	SNOMEDCT_US:167714004|SNOMEDCT_US:277657001|UMLS:C0456892	hp.json	Intracranial hypotension	http://purl.obolibrary.org/obo/HP_0012641							
HP:0012642	biolink:PhenotypicFeature	Cerebellar agenesis	Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.	UMLS:C4022808	hp.json		http://purl.obolibrary.org/obo/HP_0012642							
HP:0012643	biolink:PhenotypicFeature	Foveal hypopigmentation	Decreased amount of pigmentation in the fovea centralis.	UMLS:C4022807	hp.json		http://purl.obolibrary.org/obo/HP_0012643							
HP:0012644	biolink:PhenotypicFeature	Increased caudate lactate level	An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.	UMLS:C4022806	hp.json		http://purl.obolibrary.org/obo/HP_0012644							
HP:0012645	biolink:PhenotypicFeature	Enlarged peripheral nerve	Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.	UMLS:C2675074	hp.json	Enlarged peripheral nerves	http://purl.obolibrary.org/obo/HP_0012645							
HP:0012646	biolink:PhenotypicFeature	Retractile testis	A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.	SNOMEDCT_US:21779006|UMLS:C0520578	hp.json	Retractile testicle	http://purl.obolibrary.org/obo/HP_0012646							
HP:0012647	biolink:PhenotypicFeature	Abnormal inflammatory response	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.	UMLS:C4022805	hp.json	Abnormal inflammatory response	http://purl.obolibrary.org/obo/HP_0012647							
HP:0012648	biolink:PhenotypicFeature	Decreased inflammatory response	An abnormal reduction in the inflammatory response to injury or infection.	UMLS:C4022804	hp.json	Decreased inflammatory response	http://purl.obolibrary.org/obo/HP_0012648							
HP:0012649	biolink:PhenotypicFeature	Increased inflammatory response	A abnormal increase in the inflammatory response to injury or infection.	UMLS:C4022803	hp.json		http://purl.obolibrary.org/obo/HP_0012649							
HP:0012650	biolink:PhenotypicFeature	Perisylvian polymicrogyria	Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.	UMLS:C3279675	hp.json	Frontoparietal polymicrogyria	http://purl.obolibrary.org/obo/HP_0012650							
HP:0012651	biolink:PhenotypicFeature	Abasia	A severe form of gait ataxia such that an affected person cannot walk at all.	UMLS:C0877217	hp.json		http://purl.obolibrary.org/obo/HP_0012651							
HP:0012652	biolink:PhenotypicFeature	Exercise-induced asthma	Asthma attacks following exercise.	MSH:D001250|SNOMEDCT_US:31387002|UMLS:C0004099	hp.json	Exercise-induced asthma	http://purl.obolibrary.org/obo/HP_0012652							
HP:0012653	biolink:PhenotypicFeature	Status asthmaticus	Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.	MSH:D013224|SNOMEDCT_US:708090002|UMLS:C0038218	hp.json	Acute severe asthma	http://purl.obolibrary.org/obo/HP_0012653							
HP:0012654	biolink:PhenotypicFeature	Abnormal CSF dopamine level	Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).	UMLS:C4022802	hp.json		http://purl.obolibrary.org/obo/HP_0012654							
HP:0012655	biolink:PhenotypicFeature	Elevated CSF dopamine level	Increased concentration of dopamine in the cerebrospinal fluid (CSF).	UMLS:C4022801	hp.json		http://purl.obolibrary.org/obo/HP_0012655							
HP:0012656	biolink:PhenotypicFeature	Reduced CSF dopamine level	Decreased concentration of dopamine in the cerebrospinal fluid (CSF).	UMLS:C4022800	hp.json		http://purl.obolibrary.org/obo/HP_0012656							
HP:0012657	biolink:PhenotypicFeature	Abnormal brain positron emission tomography	A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.	UMLS:C4022799	hp.json	Abnormal brain PET scan	http://purl.obolibrary.org/obo/HP_0012657							
HP:0012658	biolink:PhenotypicFeature	Abnormal brain FDG positron emission tomography	An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.	UMLS:C4022798	hp.json	Abnormal brain FDG PET scan	http://purl.obolibrary.org/obo/HP_0012658							
HP:0012659	biolink:PhenotypicFeature	Prefrontal hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.	UMLS:C4022797	hp.json		http://purl.obolibrary.org/obo/HP_0012659							
HP:0012660	biolink:PhenotypicFeature	Thalamic hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.	UMLS:C4022796	hp.json		http://purl.obolibrary.org/obo/HP_0012660							
HP:0012661	biolink:PhenotypicFeature	Hypothalamic hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.	UMLS:C4022795	hp.json		http://purl.obolibrary.org/obo/HP_0012661							
HP:0012662	biolink:PhenotypicFeature	Parietal hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.	UMLS:C4022794	hp.json		http://purl.obolibrary.org/obo/HP_0012662							
HP:0012663	biolink:PhenotypicFeature	Mildly reduced ejection fraction	A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.	UMLS:C4022793	hp.json		http://purl.obolibrary.org/obo/HP_0012663							
HP:0012664	biolink:PhenotypicFeature	Reduced ejection fraction	A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.	UMLS:C4022792	hp.json		http://purl.obolibrary.org/obo/HP_0012664							
HP:0012665	biolink:PhenotypicFeature	Moderately reduced ejection fraction	A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.	UMLS:C4022791	hp.json		http://purl.obolibrary.org/obo/HP_0012665							
HP:0012666	biolink:PhenotypicFeature	Severely reduced ejection fraction	A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.	UMLS:C4022790	hp.json		http://purl.obolibrary.org/obo/HP_0012666							
HP:0012667	biolink:PhenotypicFeature	Regional left ventricular wall motion abnormality	An abnormal motion of a segment of the left ventricle during the cardiac cycle.	UMLS:C4022789	hp.json		http://purl.obolibrary.org/obo/HP_0012667							
HP:0012668	biolink:PhenotypicFeature	Vasovagal syncope		MSH:D013575|MSH:D019462|SNOMEDCT_US:234167006|SNOMEDCT_US:398652001|SNOMEDCT_US:398665005|UMLS:C0042420|UMLS:C0340854	hp.json	Neurocardiogenic syncope|Reflex syncope|Situational syncope	http://purl.obolibrary.org/obo/HP_0012668							
HP:0012669	biolink:PhenotypicFeature	Carotid sinus syncope	An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.	MSH:D013575|SNOMEDCT_US:51723007|UMLS:C0221046	hp.json		http://purl.obolibrary.org/obo/HP_0012669							
HP:0012670	biolink:PhenotypicFeature	Orthostatic syncope	Syncope following a quick change in position from lying down to standing.	UMLS:C0749201	hp.json		http://purl.obolibrary.org/obo/HP_0012670							
HP:0012671	biolink:PhenotypicFeature	Abulia	Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.	UMLS:C0919974	hp.json	Aboulia	http://purl.obolibrary.org/obo/HP_0012671							
HP:0012672	biolink:PhenotypicFeature	Akinetic mutism	Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.	MSH:D000405|SNOMEDCT_US:53333005|UMLS:C0001889	hp.json		http://purl.obolibrary.org/obo/HP_0012672							
HP:0012673	biolink:PhenotypicFeature	Aplasia of the upper vagina	A failure to develop of the upper vagina.	UMLS:C4022788	hp.json	Absent upper vagina	http://purl.obolibrary.org/obo/HP_0012673							
HP:0012674	biolink:PhenotypicFeature	Aplasia of the lower vagina	A failure to develop of the lower part of the vagina.	SNOMEDCT_US:253834007|UMLS:C0431646	hp.json	Absent lower vagina|Agenesis of the lower vagina	http://purl.obolibrary.org/obo/HP_0012674							
HP:0012675	biolink:PhenotypicFeature	Iron accumulation in brain	An abnormal build up of iron (Fe) in brain tissue.	UMLS:C4021076	hp.json	Iron accumulation in brain|Brain iron deposition	http://purl.obolibrary.org/obo/HP_0012675							
HP:0012676	biolink:PhenotypicFeature	Copper accumulation in brain	An anomalous build up of copper (Cu) in the brain.	UMLS:C4022787	hp.json	Copper accumulation in brain|Brain copper accumulation	http://purl.obolibrary.org/obo/HP_0012676							
HP:0012677	biolink:PhenotypicFeature	Iron accumulation in globus pallidus	An abnormal build up of iron (Fe) in the globus pallidus.	UMLS:C4022786	hp.json		http://purl.obolibrary.org/obo/HP_0012677							
HP:0012678	biolink:PhenotypicFeature	Iron accumulation in substantia nigra	An anomalous build up of iron (Fe) in the substantia nigra.	UMLS:C4022785	hp.json		http://purl.obolibrary.org/obo/HP_0012678							
HP:0012679	biolink:PhenotypicFeature	Widened interpedicular distance	An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.	UMLS:C4022784	hp.json		http://purl.obolibrary.org/obo/HP_0012679							
HP:0012680	biolink:PhenotypicFeature	Abnormality of the pineal gland	An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.	UMLS:C4022783	hp.json		http://purl.obolibrary.org/obo/HP_0012680							
HP:0012681	biolink:PhenotypicFeature	Abnormal pineal morphology	A structural abnormality of the pineal gland.	UMLS:C4022782	hp.json	Abnormality of pineal morphology	http://purl.obolibrary.org/obo/HP_0012681							
HP:0012682	biolink:PhenotypicFeature	Pineal gland calcification	Accumulation of calcium salts in the pineal gland.	UMLS:C1398718	hp.json		http://purl.obolibrary.org/obo/HP_0012682							
HP:0012683	biolink:PhenotypicFeature	Pineal cyst	A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.	SNOMEDCT_US:413099000|UMLS:C1335411	hp.json		http://purl.obolibrary.org/obo/HP_0012683							
HP:0012684	biolink:PhenotypicFeature	Abnormal pineal volume	An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.	UMLS:C4022781	hp.json		http://purl.obolibrary.org/obo/HP_0012684							
HP:0012685	biolink:PhenotypicFeature	Decreased pineal volume	An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.	UMLS:C4022780	hp.json		http://purl.obolibrary.org/obo/HP_0012685							
HP:0012686	biolink:PhenotypicFeature	Increased pineal volume	An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.	UMLS:C4022779	hp.json		http://purl.obolibrary.org/obo/HP_0012686							
HP:0012687	biolink:PhenotypicFeature	Agenesis of pineal gland	Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.	UMLS:C3553078	hp.json		http://purl.obolibrary.org/obo/HP_0012687							
HP:0012688	biolink:PhenotypicFeature	Abnormality of pineal physiology	A functional abnormality of the pineal gland.	UMLS:C4022778	hp.json		http://purl.obolibrary.org/obo/HP_0012688							
HP:0012689	biolink:PhenotypicFeature	Abnormal pineal melatonin secretion	An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.	UMLS:C4022777	hp.json		http://purl.obolibrary.org/obo/HP_0012689							
HP:0012690	biolink:PhenotypicFeature	T2 hypointense thalamus	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.	UMLS:C4022776	hp.json		http://purl.obolibrary.org/obo/HP_0012690							
HP:0012691	biolink:PhenotypicFeature	Focal T2 hypointense thalamic lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.	UMLS:C4022775	hp.json		http://purl.obolibrary.org/obo/HP_0012691							
HP:0012692	biolink:PhenotypicFeature	Focal T2 hyperintense thalamic lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.	UMLS:C4022774	hp.json		http://purl.obolibrary.org/obo/HP_0012692							
HP:0012693	biolink:PhenotypicFeature	Abnormal thalamic size	Deviation from the normal range of size of the thalamus.	UMLS:C4022773	hp.json		http://purl.obolibrary.org/obo/HP_0012693							
HP:0012694	biolink:PhenotypicFeature	Enlarged thalamic volume	An increase in the quantity of space occupied by the thalamus.	UMLS:C4022772	hp.json		http://purl.obolibrary.org/obo/HP_0012694							
HP:0012695	biolink:PhenotypicFeature	Decreased thalamic volume	A reduction in the quantity of space occupied by the thalamus.	UMLS:C4022771	hp.json		http://purl.obolibrary.org/obo/HP_0012695							
HP:0012696	biolink:PhenotypicFeature	Abnormal thalamic MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.	UMLS:C4022770	hp.json		http://purl.obolibrary.org/obo/HP_0012696							
HP:0012697	biolink:PhenotypicFeature	Small basal ganglia	Decreased size of the basal ganglia.	UMLS:C4022769	hp.json		http://purl.obolibrary.org/obo/HP_0012697							
HP:0012698	biolink:PhenotypicFeature	Cerebellar gliosis	Focal proliferation of glial cells in the cerebellum.	UMLS:C4022768	hp.json		http://purl.obolibrary.org/obo/HP_0012698							
HP:0012699	biolink:PhenotypicFeature	Anomaly of lower limb diaphyses	A structural abnormality of a diaphysis of the leg.	UMLS:C4022767	hp.json	Anomaly of shaft of long bone of lower limb	http://purl.obolibrary.org/obo/HP_0012699							
HP:0012700	biolink:PhenotypicFeature	Abnormal large intestine physiology	A functional anomaly of the large intestine.	UMLS:C4022766	hp.json		http://purl.obolibrary.org/obo/HP_0012700							
HP:0012701	biolink:PhenotypicFeature	Bowel urgency	A sudden, irresistible need to have a bowel movement.	SNOMEDCT_US:71820002|UMLS:C0426636	hp.json	Faecal urgency|Fecal urgency	http://purl.obolibrary.org/obo/HP_0012701							
HP:0012702	biolink:PhenotypicFeature	Tenesmus	A repeated, painful urge to defecate without excreting stool.	SNOMEDCT_US:267053000|SNOMEDCT_US:6548007|UMLS:C0232726	hp.json		http://purl.obolibrary.org/obo/HP_0012702							
HP:0012703	biolink:PhenotypicFeature	Abnormal subarachnoid space morphology	Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.	UMLS:C4022765	hp.json	Abnormality of the subarachnoid space	http://purl.obolibrary.org/obo/HP_0012703							
HP:0012704	biolink:PhenotypicFeature	Widened subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater.	UMLS:C1846151	hp.json	Enlarged subarachnoid space|Widened subarachnoid spaces	http://purl.obolibrary.org/obo/HP_0012704							
HP:0012705	biolink:PhenotypicFeature	Abnormal metabolic brain imaging by MRS	An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).	UMLS:C4022764	hp.json		http://purl.obolibrary.org/obo/HP_0012705							
HP:0012706	biolink:PhenotypicFeature	Elevated brain choline level by MRS	An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).	UMLS:C4022763	hp.json		http://purl.obolibrary.org/obo/HP_0012706							
HP:0012707	biolink:PhenotypicFeature	Elevated brain lactate level by MRS	An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).	UMLS:C4022762	hp.json		http://purl.obolibrary.org/obo/HP_0012707							
HP:0012708	biolink:PhenotypicFeature	Reduced brain N-acetyl aspartate level by MRS	A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	UMLS:C4022761	hp.json	Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0012708							
HP:0012709	biolink:PhenotypicFeature	Abnormal brain choline/creatine ratio by MRS	A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).	UMLS:C4022760	hp.json		http://purl.obolibrary.org/obo/HP_0012709							
HP:0012710	biolink:PhenotypicFeature	Ingrown nail	Excessive growth of a nail laterally into the nail fold.	MSH:D009263|SNOMEDCT_US:400097005|SNOMEDCT_US:400200009|UMLS:C0027343	hp.json	Ingrown nail	http://purl.obolibrary.org/obo/HP_0012710							
HP:0012711	biolink:PhenotypicFeature	Delayed ossification of vertebral epiphysis	A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.	UMLS:C4022759|UMLS:C4280312	hp.json	Delayed maturation of the end part of the vertebral bone	http://purl.obolibrary.org/obo/HP_0012711							
HP:0012712	biolink:PhenotypicFeature	Mild hearing impairment	The presence of a mild form of hearing impairment.	UMLS:C4022758	hp.json	Mild hearing impairment	http://purl.obolibrary.org/obo/HP_0012712							
HP:0012713	biolink:PhenotypicFeature	Moderate hearing impairment	The presence of a moderate form of hearing impairment.	UMLS:C4022757	hp.json	Moderate hearing impairment	http://purl.obolibrary.org/obo/HP_0012713							
HP:0012714	biolink:PhenotypicFeature	Severe hearing impairment	A severe form of hearing impairment.	SNOMEDCT_US:3561000119106|UMLS:C3874334	hp.json	Severe deafness|Severe hearing impairment|Severe hearing loss	http://purl.obolibrary.org/obo/HP_0012714							
HP:0012715	biolink:PhenotypicFeature	Profound hearing impairment	A profound (essentially complete) form of hearing impairment.	UMLS:C4022756	hp.json	Profound hearing impairment	http://purl.obolibrary.org/obo/HP_0012715							
HP:0012716	biolink:PhenotypicFeature	Moderate conductive hearing impairment	The presence of a moderate form of conductive hearing impairment.	UMLS:C4021075	hp.json	Conductive hearing loss, moderate	http://purl.obolibrary.org/obo/HP_0012716							
HP:0012717	biolink:PhenotypicFeature	Severe conductive hearing impairment	A severe form of conductive hearing impairment.	UMLS:C4021074	hp.json	Conductive hearing loss, severe	http://purl.obolibrary.org/obo/HP_0012717							
HP:0012718	biolink:PhenotypicFeature	Morphological abnormality of the gastrointestinal tract	Abnormal structure of the gastrointestinal tract.	UMLS:C4021073	hp.json	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							
HP:0012719	biolink:PhenotypicFeature	Functional abnormality of the gastrointestinal tract	Abnormal functionality of the gastrointestinal tract.	UMLS:C4022755	hp.json	Functional abnormality of the GI tract|GI dysfunction	http://purl.obolibrary.org/obo/HP_0012719							
HP:0012720	biolink:PhenotypicFeature	Neoplasm of the nose	Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.	MSH:D009669|NCIT:C3262|SNOMEDCT_US:126669004|UMLS:C0028433|UMLS:C0751394	hp.json	Nasal tumor|Nose cancer|Tumor of the nose|Nasal tumour|Tumour of the nose|Nasal neoplasm|Neoplasia of the nose	http://purl.obolibrary.org/obo/HP_0012720							
HP:0012721	biolink:PhenotypicFeature	Venous malformation	A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.	SNOMEDCT_US:297222002|UMLS:C2937220	hp.json	Venous malformations	http://purl.obolibrary.org/obo/HP_0012721							
HP:0012722	biolink:PhenotypicFeature	Heart block	Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.	MSH:D006327|SNOMEDCT_US:233916004|UMLS:C0018794	hp.json		http://purl.obolibrary.org/obo/HP_0012722							
HP:0012723	biolink:PhenotypicFeature	Sinoatrial block	Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.	Fyler:7014|MSH:D012848|SNOMEDCT_US:65778007|UMLS:C0037188	hp.json		http://purl.obolibrary.org/obo/HP_0012723							
HP:0012724	biolink:PhenotypicFeature	Upper eyelid edema	Edema in the region of the upper eyelid.	SNOMEDCT_US:700339006|UMLS:C2025988|UMLS:C3839407	hp.json	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							
HP:0012725	biolink:PhenotypicFeature	Cutaneous syndactyly	A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.	UMLS:C1861921	hp.json	Cutaneous syndactyly of digits|Syndactyly, cutaneous	http://purl.obolibrary.org/obo/HP_0012725							
HP:0012726	biolink:PhenotypicFeature	Episodic hypokalemia	An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.	UMLS:C4022754	hp.json	Recurrent low potassium	http://purl.obolibrary.org/obo/HP_0012726							
HP:0012727	biolink:PhenotypicFeature	Thoracic aortic aneurysm	An abnormal localized widening (dilatation) of the thoracic aorta.	MSH:D017545|SNOMEDCT_US:433068007|UMLS:C0162872	hp.json	Dilatation of the thoracic aorta	http://purl.obolibrary.org/obo/HP_0012727							
HP:0012728	biolink:PhenotypicFeature	Fusiform descending thoracic aortic aneurysm	A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall	UMLS:C4022753	hp.json	Dilatation of the fusiform descending thoracic aorta	http://purl.obolibrary.org/obo/HP_0012728							
HP:0012729	biolink:PhenotypicFeature	Saccular descending thoracic aortic aneurysm	An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall	UMLS:C4022752	hp.json	Dilatation of the saccular descending thoracic aorta	http://purl.obolibrary.org/obo/HP_0012729							
HP:0012730	biolink:PhenotypicFeature	Aglossia	Absence of the tongue owing to a developmental abnormality.	SNOMEDCT_US:74788000|UMLS:C0158663	hp.json	Missing tongue|Failure of development of tongue|Absence of tongue	http://purl.obolibrary.org/obo/HP_0012730							
HP:0012731	biolink:PhenotypicFeature	Ectopic anterior pituitary gland	Abnormal anatomic location of the anterior pituitary gland.	UMLS:C4022751	hp.json		http://purl.obolibrary.org/obo/HP_0012731							
HP:0012732	biolink:PhenotypicFeature	Anorectal anomaly	An abnormality of the anus or rectum.	MSH:D000071056|SNOMEDCT_US:33225004|UMLS:C3495676	hp.json		http://purl.obolibrary.org/obo/HP_0012732							
HP:0012733	biolink:PhenotypicFeature	Macule	A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.	SNOMEDCT_US:112629002|UMLS:C0332573	hp.json	Flat, discolored area of skin|Flat, discoloured area of skin	http://purl.obolibrary.org/obo/HP_0012733							
HP:0012734	biolink:PhenotypicFeature	Ketotic hypoglycemia	Low blood glucose is accompanied by elevated levels of ketone bodies in the body.	SNOMEDCT_US:20825002|UMLS:C0271713	hp.json	Ketotic low blood sugar	http://purl.obolibrary.org/obo/HP_0012734							
HP:0012735	biolink:PhenotypicFeature	Cough	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.	MSH:D003371|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|SNOMEDCT_US:49727002|UMLS:C0010200	hp.json	Cough|Coughing	http://purl.obolibrary.org/obo/HP_0012735							
HP:0012736	biolink:PhenotypicFeature	Profound global developmental delay	A profound delay in the achievement of motor or mental milestones in the domains of development of a child.	UMLS:C1855773|UMLS:C3553450	hp.json	Global developmental delay, profound|Psychomotor retardation, profound	http://purl.obolibrary.org/obo/HP_0012736							
HP:0012737	biolink:PhenotypicFeature	Small intestinal polyp	A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.	SNOMEDCT_US:399723004|UMLS:C1302645	hp.json		http://purl.obolibrary.org/obo/HP_0012737							
HP:0012738	biolink:PhenotypicFeature	Agenesis of canine	Agenesis of canine tooth.	UMLS:C4021072|UMLS:C4280311	hp.json	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							
HP:0012739	biolink:PhenotypicFeature	Agenesis of the small intestine	Failure to develop of the small intestine.	UMLS:C4021071	hp.json	Undeveloped small intestine|Small bowel agenesis	http://purl.obolibrary.org/obo/HP_0012739							
HP:0012740	biolink:PhenotypicFeature	Papilloma	A tumor of the skin or mucous membrane with finger-like projections.	MSH:D010212|SNOMEDCT_US:23730008|SNOMEDCT_US:711329002|UMLS:C0030354	hp.json		http://purl.obolibrary.org/obo/HP_0012740							
HP:0012741	biolink:PhenotypicFeature	Unilateral cryptorchidism	Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.	MSH:D003456|SNOMEDCT_US:268227001|UMLS:C0431664	hp.json	Cryptorchidism, unilateral	http://purl.obolibrary.org/obo/HP_0012741							
HP:0012742	biolink:PhenotypicFeature	Thin fingernail	Fingernail that appears thin when viewed on end.	UMLS:C4022750	hp.json	Thin fingernail	http://purl.obolibrary.org/obo/HP_0012742							
HP:0012743	biolink:PhenotypicFeature	Abdominal obesity	Excessive fat around the stomach and abdomen.	MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277	hp.json	Abdominal obesity|Central obesity	http://purl.obolibrary.org/obo/HP_0012743							
HP:0012744	biolink:PhenotypicFeature	Femoral aplasia	Failure of the femur to develop.	SNOMEDCT_US:47276000|UMLS:C0265629	hp.json	Absent thighbone|Absent femur|Aplasia of the femur	http://purl.obolibrary.org/obo/HP_0012744							
HP:0012745	biolink:PhenotypicFeature	Short palpebral fissure	Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.	SNOMEDCT_US:246802000|UMLS:C0423112	hp.json	Short opening between the eyelids|Decreased height of palpebral fissure|Short palpebral fissures	http://purl.obolibrary.org/obo/HP_0012745							hposlim_core
HP:0012746	biolink:PhenotypicFeature	Thin toenail	Toenail that appears thin when viewed on end.	UMLS:C3554113	hp.json	Thin toenail|Thin toenails	http://purl.obolibrary.org/obo/HP_0012746							
HP:0012747	biolink:PhenotypicFeature	Abnormal brainstem MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.	UMLS:C4022749	hp.json		http://purl.obolibrary.org/obo/HP_0012747							
HP:0012748	biolink:PhenotypicFeature	Focal T2 hyperintense brainstem lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.	UMLS:C4022748	hp.json		http://purl.obolibrary.org/obo/HP_0012748							
HP:0012749	biolink:PhenotypicFeature	Focal T2 hypointense brainstem lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.	UMLS:C4022747	hp.json		http://purl.obolibrary.org/obo/HP_0012749							
HP:0012750	biolink:PhenotypicFeature	T2 hypointense brainstem	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.	UMLS:C4022746	hp.json		http://purl.obolibrary.org/obo/HP_0012750							
HP:0012751	biolink:PhenotypicFeature	Abnormal basal ganglia MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.	UMLS:C4022745	hp.json		http://purl.obolibrary.org/obo/HP_0012751							
HP:0012752	biolink:PhenotypicFeature	Focal T2 hypointense basal ganglia lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.	UMLS:C4022744	hp.json		http://purl.obolibrary.org/obo/HP_0012752							
HP:0012753	biolink:PhenotypicFeature	T2 hypointense basal ganglia	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.	UMLS:C4022743	hp.json		http://purl.obolibrary.org/obo/HP_0012753							
HP:0012754	biolink:PhenotypicFeature	CNS hypermyelination	Increased amount of myelin in the central nervous system.	UMLS:C4022742	hp.json		http://purl.obolibrary.org/obo/HP_0012754							
HP:0012755	biolink:PhenotypicFeature	Enlarged brainstem	Abnormal increase in size of the brainstem.	UMLS:C4022741	hp.json		http://purl.obolibrary.org/obo/HP_0012755							
HP:0012756	biolink:PhenotypicFeature	CSF polymorphonuclear pleocytosis	An increased polymorphonuclear cell count in the cerebrospinal fluid.	UMLS:C4022740	hp.json		http://purl.obolibrary.org/obo/HP_0012756							
HP:0012757	biolink:PhenotypicFeature	Abnormal neuron morphology	A structural anomaly of a neuron.	UMLS:C4022739	hp.json	Abnormal neuron shape|Abnormal neuronal morphology	http://purl.obolibrary.org/obo/HP_0012757							
HP:0012758	biolink:PhenotypicFeature	Neurodevelopmental delay		UMLS:C4022738	hp.json		http://purl.obolibrary.org/obo/HP_0012758							
HP:0012759	biolink:PhenotypicFeature	Neurodevelopmental abnormality	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.	UMLS:C4022737	hp.json		http://purl.obolibrary.org/obo/HP_0012759							
HP:0012760	biolink:PhenotypicFeature	Impaired social reciprocity	A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.	UMLS:C4022736	hp.json		http://purl.obolibrary.org/obo/HP_0012760							
HP:0012761	biolink:PhenotypicFeature	Absent mastoid	A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.	UMLS:C4021070	hp.json	Absent mastoids|Failure of development of mastoid|Mastoid agenesis	http://purl.obolibrary.org/obo/HP_0012761							
HP:0012762	biolink:PhenotypicFeature	Cerebral white matter atrophy	The presence of atrophy (wasting) of the cerebral white matter.	UMLS:C4022735	hp.json		http://purl.obolibrary.org/obo/HP_0012762							
HP:0012763	biolink:PhenotypicFeature	Paroxysmal dyspnea	A sudden attack of dyspnea that occurs while the affected person is at rest.	MSH:D004418|SNOMEDCT_US:59265000|UMLS:C0013405	hp.json	Paroxysmal dyspnoea	http://purl.obolibrary.org/obo/HP_0012763							
HP:0012764	biolink:PhenotypicFeature	Orthopnea	A sensation of breathlessness in the recumbent position, relieved by sitting or standing.	SNOMEDCT_US:62744007|UMLS:C0085619	hp.json		http://purl.obolibrary.org/obo/HP_0012764							
HP:0012765	biolink:PhenotypicFeature	Widened cerebellar subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.	UMLS:C4022734	hp.json		http://purl.obolibrary.org/obo/HP_0012765							
HP:0012766	biolink:PhenotypicFeature	Widened cerebral subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.	UMLS:C4022733	hp.json		http://purl.obolibrary.org/obo/HP_0012766							
HP:0012767	biolink:PhenotypicFeature	Abnormal placental size	A deviation from normal size of the placenta.	UMLS:C4022732	hp.json		http://purl.obolibrary.org/obo/HP_0012767							
HP:0012768	biolink:PhenotypicFeature	Neonatal asphyxia	Respiratory failure in the newborn.	MSH:D001238|SNOMEDCT_US:28314004|SNOMEDCT_US:413654009|UMLS:C0004045	hp.json	Asphyxia neonatorum	http://purl.obolibrary.org/obo/HP_0012768							
HP:0012769	biolink:PhenotypicFeature	Abnormal arm span	A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)	UMLS:C4022731	hp.json	Abnormal arm span	http://purl.obolibrary.org/obo/HP_0012769							
HP:0012770	biolink:PhenotypicFeature	Reduced arm span	Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).	UMLS:C4022730	hp.json	Reduced arm span	http://purl.obolibrary.org/obo/HP_0012770							
HP:0012771	biolink:PhenotypicFeature	Increased arm span	Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).	UMLS:C4022729	hp.json	Increased arm span	http://purl.obolibrary.org/obo/HP_0012771							
HP:0012772	biolink:PhenotypicFeature	Abnormal upper to lower segment ratio	A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.	UMLS:C4022728	hp.json		http://purl.obolibrary.org/obo/HP_0012772							
HP:0012773	biolink:PhenotypicFeature	Reduced upper to lower segment ratio	Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.	UMLS:C1836996	hp.json		http://purl.obolibrary.org/obo/HP_0012773							
HP:0012774	biolink:PhenotypicFeature	Increased upper to lower segment ratio	Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.	UMLS:C1844571	hp.json		http://purl.obolibrary.org/obo/HP_0012774							
HP:0012775	biolink:PhenotypicFeature	Stellate iris	A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.	UMLS:C4022727	hp.json		http://purl.obolibrary.org/obo/HP_0012775							
HP:0012776	biolink:PhenotypicFeature	Abnormal ciliary body morphology	A structural anomaly of the ciliary body.	UMLS:C4022726	hp.json	Abnormality of the ciliary body	http://purl.obolibrary.org/obo/HP_0012776							
HP:0012777	biolink:PhenotypicFeature	Retinal neoplasm	A tumor (abnormal growth of tissue) of the retina.	MSH:D019572|NCIT:C3262|SNOMEDCT_US:127002001|UMLS:C0524801	hp.json		http://purl.obolibrary.org/obo/HP_0012777							
HP:0012778	biolink:PhenotypicFeature	Retinal astrocytic hamartoma	A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.	UMLS:C4022725	hp.json		http://purl.obolibrary.org/obo/HP_0012778							
HP:0012779	biolink:PhenotypicFeature	Transient hearing impairment	Hearing loss that occurs acutely and resolves completely.	UMLS:C4022724	hp.json		http://purl.obolibrary.org/obo/HP_0012779							
HP:0012780	biolink:PhenotypicFeature	Neoplasm of the ear	A tumor (abnormal growth of tissue) of the ear.	MSH:D004428|NCIT:C3262|SNOMEDCT_US:363228008|UMLS:C0013449	hp.json	Ear tumor|Ear tumour	http://purl.obolibrary.org/obo/HP_0012780							
HP:0012781	biolink:PhenotypicFeature	Mid-frequency hearing loss	A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).	UMLS:C4022723	hp.json		http://purl.obolibrary.org/obo/HP_0012781							
HP:0012782	biolink:PhenotypicFeature	Perilobar nephrogenic rest	A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.	SNOMEDCT_US:405935000|UMLS:C1319017	hp.json	Perilobar nephrogenic rests	http://purl.obolibrary.org/obo/HP_0012782							
HP:0012783	biolink:PhenotypicFeature	Intralobar nephrogenic rest	A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.	SNOMEDCT_US:405934001|UMLS:C1319016	hp.json	Intralobar nephrogenic rests	http://purl.obolibrary.org/obo/HP_0012783							
HP:0012784	biolink:PhenotypicFeature	Perinephritis	Inflammation of the connective and adipose tissues surrounding the kidney.	MSH:D010501|SNOMEDCT_US:111404004|UMLS:C0031065	hp.json		http://purl.obolibrary.org/obo/HP_0012784							
HP:0012785	biolink:PhenotypicFeature	Flexion contracture of finger	Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.	UMLS:C1857304	hp.json	Flexion deformity of finger	http://purl.obolibrary.org/obo/HP_0012785							
HP:0012786	biolink:PhenotypicFeature	Recurrent cystitis	Repeated infections of the urinary bladder.	SNOMEDCT_US:197853008|UMLS:C0581366	hp.json	Recurrent bladder infections	http://purl.obolibrary.org/obo/HP_0012786							
HP:0012787	biolink:PhenotypicFeature	Recurrent pyelonephritis	Repeated episodes of pyelonephritis.	UMLS:C0748199	hp.json		http://purl.obolibrary.org/obo/HP_0012787							
HP:0012788	biolink:PhenotypicFeature	Reticulate pigmentation of oral mucosa	A net-like pattern of increased pigmentation of the oral cavity.	UMLS:C1852148	hp.json	Mottled pigmentation of oral mucosa|Reticulate pigmentation of oral mucous membrane	http://purl.obolibrary.org/obo/HP_0012788							
HP:0012789	biolink:PhenotypicFeature	Hypoplasia of the calcaneus	Underdevelopment of the heel bone.	UMLS:C3550873	hp.json	Small heel bone|Underdeveloped heel bone|Hypoplastic calcaneus	http://purl.obolibrary.org/obo/HP_0012789							
HP:0012790	biolink:PhenotypicFeature	Abnormal intramembranous ossification	An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.	UMLS:C4021069	hp.json	Abnormal intramembranous bone ossification	http://purl.obolibrary.org/obo/HP_0012790							
HP:0012791	biolink:PhenotypicFeature	Abnormal humeral ossification	An anomaly of the process of formation of bone in the humerus.	UMLS:C4022722	hp.json	Abnormal maturation of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0012791							
HP:0012792	biolink:PhenotypicFeature	Absent ossification of thoracic vertebral bodies	A lack of bone mineralization of one or more body of thoracic vertebra.	UMLS:C4022721	hp.json		http://purl.obolibrary.org/obo/HP_0012792							
HP:0012793	biolink:PhenotypicFeature	Kinked brainstem	A kinked appearance of the brainstem, i.e., an exaggerated flexure.	UMLS:C4021068	hp.json	Kinked brain stem	http://purl.obolibrary.org/obo/HP_0012793							
HP:0012794	biolink:PhenotypicFeature	Periventricular white matter hypodensities	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.	UMLS:C4022720	hp.json	Periventricular cerebral white matter hypodensities	http://purl.obolibrary.org/obo/HP_0012794							
HP:0012795	biolink:PhenotypicFeature	Abnormality of the optic disc	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.	UMLS:C3808249	hp.json		http://purl.obolibrary.org/obo/HP_0012795							
HP:0012796	biolink:PhenotypicFeature	Increased cup-to-disc ratio	An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.	UMLS:C3805911	hp.json	Elevated cup to disc ratio|Increased cup disc ratio	http://purl.obolibrary.org/obo/HP_0012796							
HP:0012797	biolink:PhenotypicFeature	Lymphatic vessel neoplasm	A benign or malignant neoplasm arising from the lymphatic vessels.	MSH:D018190|NCIT:C3262|SNOMEDCT_US:115236002|UMLS:C0206619	hp.json	Lymphatic vessel tumor|Lymphatic vessel tumour	http://purl.obolibrary.org/obo/HP_0012797							
HP:0012798	biolink:PhenotypicFeature	Pulmonary lymphangiomyomatosis	Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.	MSH:D018192|SNOMEDCT_US:73017001|UMLS:C0238399|UMLS:C0751674	hp.json	Pulmonary myomatosis|Lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/HP_0012798							
HP:0012799	biolink:PhenotypicFeature	Unilateral facial palsy	One-sided weakness of the muscles of facial expression and eye closure.	UMLS:C0239516|UMLS:C4022719	hp.json	Facial droop|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							
HP:0012800	biolink:PhenotypicFeature	Accessory cranial suture	A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.	UMLS:C4021067|UMLS:C4022927	hp.json	Extra cranial suture|Supernumary cranial suture|Accessory fontanelle|Extra fontanelle|Supernumary fontanelle	http://purl.obolibrary.org/obo/HP_0012800							
HP:0012801	biolink:PhenotypicFeature	Narrow jaw	Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).	UMLS:C4021066|UMLS:C4280310	hp.json	Narrow jaw|Narrow lower face|Narrow lower jaw|Thin lower face|Thin lower jaw|Narrow mandible	http://purl.obolibrary.org/obo/HP_0012801							
HP:0012802	biolink:PhenotypicFeature	Broad jaw	Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).	UMLS:C3281059	hp.json	Broad jaw|Broad lower face|Wide jaw|Broad mandible|Wide mandible	http://purl.obolibrary.org/obo/HP_0012802							
HP:0012803	biolink:PhenotypicFeature	Anisometropia	Inequality of refractive power of the two eyes.	MSH:D015858|SNOMEDCT_US:3289004|UMLS:C0003081	hp.json		http://purl.obolibrary.org/obo/HP_0012803							
HP:0012804	biolink:PhenotypicFeature	Corneal ulceration	Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.	MSH:D003320|SNOMEDCT_US:91514001|UMLS:C0010043	hp.json	Corneal ulcer|Corneal ulcerations	http://purl.obolibrary.org/obo/HP_0012804							
HP:0012805	biolink:PhenotypicFeature	Iris transillumination defect	Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.	UMLS:C1096099	hp.json		http://purl.obolibrary.org/obo/HP_0012805							
HP:0012806	biolink:PhenotypicFeature	Proboscis	A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.	UMLS:C0687082	hp.json		http://purl.obolibrary.org/obo/HP_0012806							
HP:0012807	biolink:PhenotypicFeature	High insertion of columella	Insertion of the posterior columella superior to the nasal base.	UMLS:C4020909	hp.json	Ala lower than columella|Columella, high insertion	http://purl.obolibrary.org/obo/HP_0012807							hposlim_core
HP:0012808	biolink:PhenotypicFeature	Abnormal nasal base	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.	UMLS:C4022718	hp.json	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							
HP:0012809	biolink:PhenotypicFeature	Narrow nasal base	Decreased distance between the attachments of the alae nasi to the face.	UMLS:C4022717	hp.json	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							
HP:0012810	biolink:PhenotypicFeature	Wide nasal base	Increased distance between the attachments of the alae nasi to the face.	UMLS:C1849667	hp.json	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							
HP:0012811	biolink:PhenotypicFeature	Wide nasal ridge	Increased width of the nasal ridge.	UMLS:C4020718	hp.json	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							
HP:0012812	biolink:PhenotypicFeature	Fullness of paranasal tissue	Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.	UMLS:C4021065|UMLS:C4280308|UMLS:C4280309	hp.json	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							
HP:0012813	biolink:PhenotypicFeature	Unilateral breast hypoplasia	Underdevelopment of the breast on one side only.	UMLS:C1844722	hp.json	One underdeveloped breast	http://purl.obolibrary.org/obo/HP_0012813							
HP:0012814	biolink:PhenotypicFeature	Bilateral breast hypoplasia	Underdevelopment of the breast on both sides.	UMLS:C4022716	hp.json	Two underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0012814							
HP:0012815	biolink:PhenotypicFeature	Hypoplastic female external genitalia	Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).	UMLS:C4022715	hp.json	Underdeveloped female external genitalia	http://purl.obolibrary.org/obo/HP_0012815							
HP:0012816	biolink:PhenotypicFeature	Right ventricular noncompaction cardiomyopathy	A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.	UMLS:C4022714	hp.json		http://purl.obolibrary.org/obo/HP_0012816							
HP:0012817	biolink:PhenotypicFeature	Noncompaction cardiomyopathy	A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.	UMLS:C1839832	hp.json	Noncompaction of the ventricular myocardium|Spongiform cardiomyopathy	http://purl.obolibrary.org/obo/HP_0012817							
HP:0012818	biolink:PhenotypicFeature	Biventricular noncompaction cardiomyopathy	Noncompaction cardiomyopathy that affects both ventricles.	UMLS:C4022713	hp.json		http://purl.obolibrary.org/obo/HP_0012818							
HP:0012819	biolink:PhenotypicFeature	Myocarditis	Inflammation of the myocardium.	MSH:D009205|SNOMEDCT_US:50920009|UMLS:C0027059	hp.json	Inflammation of heart muscle	http://purl.obolibrary.org/obo/HP_0012819							
HP:0012820	biolink:PhenotypicFeature	Bilateral vocal cord paralysis	A loss of the ability to move the vocal fold on both sides.	UMLS:C2146481	hp.json		http://purl.obolibrary.org/obo/HP_0012820							
HP:0012821	biolink:PhenotypicFeature	Unilateral vocal cord paresis	Decreased strength of the vocal fold on one side.	MSH:D014826|UMLS:C0751577	hp.json		http://purl.obolibrary.org/obo/HP_0012821							
HP:0012822	biolink:PhenotypicFeature	Bilateral vocal cord paresis	Decreased strength of the vocal fold on both sides.	MSH:D014826|UMLS:C0751574	hp.json		http://purl.obolibrary.org/obo/HP_0012822							
HP:0012823	biolink:PhenotypicFeature	Clinical modifier	This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.	UMLS:C4021064	hp.json	Phenotypic modifier	http://purl.obolibrary.org/obo/HP_0012823							
HP:0012824	biolink:PhenotypicFeature	Severity	The intensity or degree of a manifestation.	SNOMEDCT_US:103370009|UMLS:C0522510	hp.json	Intensity	http://purl.obolibrary.org/obo/HP_0012824							
HP:0012825	biolink:PhenotypicFeature	Mild	Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.	SNOMEDCT_US:446411000124101|UMLS:C1513302	hp.json	Mild	http://purl.obolibrary.org/obo/HP_0012825							
HP:0012826	biolink:PhenotypicFeature	Moderate	Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.	SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007|UMLS:C0205081	hp.json		http://purl.obolibrary.org/obo/HP_0012826							
HP:0012827	biolink:PhenotypicFeature	Borderline	Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.	UMLS:C0205189	hp.json	Borderline	http://purl.obolibrary.org/obo/HP_0012827							
HP:0012828	biolink:PhenotypicFeature	Severe	Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.	SNOMEDCT_US:24484000|UMLS:C0205082	hp.json	Severe	http://purl.obolibrary.org/obo/HP_0012828							
HP:0012829	biolink:PhenotypicFeature	Profound	Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.	SNOMEDCT_US:795002|UMLS:C0439808	hp.json	Profound	http://purl.obolibrary.org/obo/HP_0012829							
HP:0012830	biolink:PhenotypicFeature	Position	The anatomical localization of the specified phenotypic abnormality.	UMLS:C4019252	hp.json		http://purl.obolibrary.org/obo/HP_0012830							
HP:0012831	biolink:PhenotypicFeature	Laterality	The localization with respect to the side of the body of the specified phenotypic abnormality.	SNOMEDCT_US:272741003|UMLS:C0332304	hp.json		http://purl.obolibrary.org/obo/HP_0012831							
HP:0012832	biolink:PhenotypicFeature	Bilateral	Being present on both sides of the body.	SNOMEDCT_US:51440002|UMLS:C0238767	hp.json		http://purl.obolibrary.org/obo/HP_0012832							
HP:0012833	biolink:PhenotypicFeature	Unilateral	Being present on only the left or only the right side of the body.	SNOMEDCT_US:66459002|UMLS:C0205092	hp.json		http://purl.obolibrary.org/obo/HP_0012833							
HP:0012834	biolink:PhenotypicFeature	Right	Being located on the right side of the body.	SNOMEDCT_US:264180000|UMLS:C0444532	hp.json	Right-sided	http://purl.obolibrary.org/obo/HP_0012834							
HP:0012835	biolink:PhenotypicFeature	Left	Being located on the left side of the body.	SNOMEDCT_US:263795004|UMLS:C0443246	hp.json	Left-sided	http://purl.obolibrary.org/obo/HP_0012835							
HP:0012836	biolink:PhenotypicFeature	Spatial pattern	The pattern by which a phenotype affects one or more regions of the body.	UMLS:C4022711	hp.json		http://purl.obolibrary.org/obo/HP_0012836							
HP:0012837	biolink:PhenotypicFeature	Generalized	Affecting all regions without specificity of distribution.	SNOMEDCT_US:60132005|UMLS:C0205246	hp.json	Generalised	http://purl.obolibrary.org/obo/HP_0012837							
HP:0012838	biolink:PhenotypicFeature	Localized	Being confined or restricted to a particular location.	SNOMEDCT_US:255471002|UMLS:C0392752	hp.json	Localized|Localised	http://purl.obolibrary.org/obo/HP_0012838							
HP:0012839	biolink:PhenotypicFeature	Distal	Localized away from the central point of the body.	SNOMEDCT_US:46053002|UMLS:C0205108	hp.json	Outermost	http://purl.obolibrary.org/obo/HP_0012839							
HP:0012840	biolink:PhenotypicFeature	Proximal	Localized close to the central point of the body.	SNOMEDCT_US:40415009|UMLS:C0205107	hp.json		http://purl.obolibrary.org/obo/HP_0012840							
HP:0012841	biolink:PhenotypicFeature	Retinal vascular tortuosity	The presence of an increased number of twists and turns of the retinal blood vessels.	UMLS:C1860475	hp.json	Tortuous retinal vessels	http://purl.obolibrary.org/obo/HP_0012841							
HP:0012842	biolink:PhenotypicFeature	Skin appendage neoplasm	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	NCIT:C3262|SNOMEDCT_US:126489007|SNOMEDCT_US:55681005|UMLS:C0345988	hp.json	Skin adnexal tumour|Skin adnexal neoplasm|Skin adnexal tumor	http://purl.obolibrary.org/obo/HP_0012842							
HP:0012843	biolink:PhenotypicFeature	Hair follicle neoplasm	An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.	NCIT:C3262|SNOMEDCT_US:44155009|UMLS:C0859920	hp.json		http://purl.obolibrary.org/obo/HP_0012843							
HP:0012844	biolink:PhenotypicFeature	Trichilemmoma	A benign tumour originating from the outer root sheath of the hair follicle.	SNOMEDCT_US:274900003|SNOMEDCT_US:46199002|UMLS:C0334263	hp.json	Tricholemmoma	http://purl.obolibrary.org/obo/HP_0012844							
HP:0012845	biolink:PhenotypicFeature	Single trichilemmoma	Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.	UMLS:C4022710	hp.json		http://purl.obolibrary.org/obo/HP_0012845							
HP:0012846	biolink:PhenotypicFeature	Multiple trichilemmomata	Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.	UMLS:C4021063	hp.json	Multiple trichilemmomas	http://purl.obolibrary.org/obo/HP_0012846							
HP:0012847	biolink:PhenotypicFeature	Epilepsia partialis continua	Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).	MSH:D017036|SNOMEDCT_US:241006|UMLS:C0085543	hp.json	Epilepsia partialis continua of Kojevnikov|Kojevnikov's epilepsia|Kozhevnikov's epilepsia	http://purl.obolibrary.org/obo/HP_0012847							
HP:0012848	biolink:PhenotypicFeature	Small intestinal stenosis	The narrowing or partial blockage of a portion of the small intestine.	UMLS:C0151924	hp.json	Narrowing of small intestine	http://purl.obolibrary.org/obo/HP_0012848							
HP:0012849	biolink:PhenotypicFeature	Small intestinal bleeding	Bleeding from the small intestine.	SNOMEDCT_US:70375006|UMLS:C0520561	hp.json	Small intestinal bleeding|Small intestinal haemorrhage|Small intestinal hemorrhage	http://purl.obolibrary.org/obo/HP_0012849							
HP:0012850	biolink:PhenotypicFeature	Small intestinal dysmotility	Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.	SNOMEDCT_US:253768006|UMLS:C0345200	hp.json		http://purl.obolibrary.org/obo/HP_0012850							
HP:0012851	biolink:PhenotypicFeature	Colonic stenosis	A narrowing of a segment of colon whereby bowel continuity is maintained.	SNOMEDCT_US:19132000|SNOMEDCT_US:8543007|UMLS:C0267466	hp.json	Narrowing of the colon|Stenosis of the colon	http://purl.obolibrary.org/obo/HP_0012851							
HP:0012852	biolink:PhenotypicFeature	Hepatic bridging fibrosis	Hepatic fibrosis that reaches from a portal area to another portal area.	UMLS:C4022709	hp.json		http://purl.obolibrary.org/obo/HP_0012852							
HP:0012853	biolink:PhenotypicFeature	Scrotal hypospadias	Hypospadias with location of the urethral meatus in the scrotum.	SNOMEDCT_US:702462000|UMLS:C2197691	hp.json		http://purl.obolibrary.org/obo/HP_0012853							
HP:0012854	biolink:PhenotypicFeature	Midshaft hypospadias	Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.	UMLS:C4022708	hp.json		http://purl.obolibrary.org/obo/HP_0012854							
HP:0012855	biolink:PhenotypicFeature	Scrotal hyperpigmentation	Increased pigmentation (skin color) of the scrotum.	UMLS:C4021062	hp.json	Hyperpigmentation of the scrotum|Hyperpigmented scrotum|Increased pigmentation in scrotum	http://purl.obolibrary.org/obo/HP_0012855							
HP:0012856	biolink:PhenotypicFeature	Abnormal scrotal rugation	Anomaly of the folded ridges (wrinkles) of skin of the scrotum.	UMLS:C4022707	hp.json		http://purl.obolibrary.org/obo/HP_0012856							
HP:0012857	biolink:PhenotypicFeature	Increased scrotal rugation	Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.	UMLS:C4022706	hp.json		http://purl.obolibrary.org/obo/HP_0012857							
HP:0012858	biolink:PhenotypicFeature	Decreased scrotal rugation	Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.	UMLS:C4022705	hp.json		http://purl.obolibrary.org/obo/HP_0012858							
HP:0012859	biolink:PhenotypicFeature	Esophageal leukoplakia	A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.	SNOMEDCT_US:89057003|UMLS:C0267095	hp.json	Esophageal epidermoid metaplasia	http://purl.obolibrary.org/obo/HP_0012859							
HP:0012860	biolink:PhenotypicFeature	Testicular fibrosis	Formation of excess connective tissue in the testicle.	UMLS:C4021061	hp.json	Fibrotic testes|Fibrotic testicle	http://purl.obolibrary.org/obo/HP_0012860							
HP:0012861	biolink:PhenotypicFeature	Ovotestis	A gonad that contains both ovarian follicles and testicular tubular elements.	MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361	hp.json		http://purl.obolibrary.org/obo/HP_0012861							
HP:0012862	biolink:PhenotypicFeature	Abnormal germ cell morphology	Any structural anomaly of a reproductive cell.	UMLS:C4022704	hp.json	Abnormally shaped reproductive cell|Abnormal shape of a reproductive cell|Abnormally shaped germ cell	http://purl.obolibrary.org/obo/HP_0012862							
HP:0012863	biolink:PhenotypicFeature	Abnormal male germ cell morphology	A structural anomaly of a male reproductive cell.	UMLS:C4022703	hp.json		http://purl.obolibrary.org/obo/HP_0012863							
HP:0012864	biolink:PhenotypicFeature	Abnormal sperm morphology	A structural anomaly of sperm.	MSH:D000072660|SNOMEDCT_US:236817003|UMLS:C0403824	hp.json	Abnormal shape of sperm|Teratospermia|Teratozoospermia	http://purl.obolibrary.org/obo/HP_0012864							
HP:0012865	biolink:PhenotypicFeature	Abnormal sperm head morphology	A structural abnormality of the sperm head.	UMLS:C4022702	hp.json	Sperm head anomaly	http://purl.obolibrary.org/obo/HP_0012865							
HP:0012866	biolink:PhenotypicFeature	Abnormal sperm neck morphology	A structural abnormality of the sperm neck.	UMLS:C4022701	hp.json	Sperm neck anomaly	http://purl.obolibrary.org/obo/HP_0012866							
HP:0012867	biolink:PhenotypicFeature	Abnormal sperm mid-piece morphology	A structural abnormality of the sperm mid-piece.	UMLS:C4022700	hp.json	Sperm mid-piece anomaly	http://purl.obolibrary.org/obo/HP_0012867							
HP:0012868	biolink:PhenotypicFeature	Abnormal sperm tail morphology	A structural abnormality of the sperm tail.	UMLS:C4022699	hp.json	Sperm tail anomaly	http://purl.obolibrary.org/obo/HP_0012868							
HP:0012869	biolink:PhenotypicFeature	Acephalic spermatozoa	Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.	UMLS:C4022698	hp.json		http://purl.obolibrary.org/obo/HP_0012869							
HP:0012870	biolink:PhenotypicFeature	Vanishing testis	A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.	MSH:C537770|SNOMEDCT_US:53599007|UMLS:C0266427	hp.json	Vanishing testis|Testicular regression syndrome	http://purl.obolibrary.org/obo/HP_0012870							
HP:0012871	biolink:PhenotypicFeature	Varicocele	A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.	MSH:D014646|SNOMEDCT_US:46871008|SNOMEDCT_US:51070004|UMLS:C0042341	hp.json	Vaginal varicocele	http://purl.obolibrary.org/obo/HP_0012871							
HP:0012872	biolink:PhenotypicFeature	Abnormal vas deferens morphology	A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.	UMLS:C4022697	hp.json		http://purl.obolibrary.org/obo/HP_0012872							
HP:0012873	biolink:PhenotypicFeature	Absent vas deferens	Aplasia (congenital absence) of the vas deferens.	SNOMEDCT_US:300506000|SNOMEDCT_US:5286009|SNOMEDCT_US:702610009|UMLS:C0266444	hp.json	Absent deferent duct|Absent ductus deferens|Congenital absence of the vas deferens	http://purl.obolibrary.org/obo/HP_0012873							
HP:0012874	biolink:PhenotypicFeature	Abnormal male reproductive system physiology	An abnormal functionality of the male genital system.	UMLS:C4020716	hp.json	Abnormal male genital system physiology	http://purl.obolibrary.org/obo/HP_0012874							
HP:0012875	biolink:PhenotypicFeature	Abnormal ejaculation	Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.	SNOMEDCT_US:386674000|UMLS:C2937350	hp.json		http://purl.obolibrary.org/obo/HP_0012875							
HP:0012876	biolink:PhenotypicFeature	Premature ejaculation	The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.	MSH:D061686|SNOMEDCT_US:44001008|UMLS:C0033038	hp.json	Premature ejaculation	http://purl.obolibrary.org/obo/HP_0012876							
HP:0012877	biolink:PhenotypicFeature	Retrograde ejaculation	The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.	SNOMEDCT_US:50112006|UMLS:C0403673	hp.json		http://purl.obolibrary.org/obo/HP_0012877							
HP:0012878	biolink:PhenotypicFeature	Retarded ejaculation	Difficulty of a male in achieving orgasm.	SNOMEDCT_US:15405008|UMLS:C0234047	hp.json	Delayed ejaculation	http://purl.obolibrary.org/obo/HP_0012878							
HP:0012879	biolink:PhenotypicFeature	Anejaculation	Inability to ejaculate.	SNOMEDCT_US:248782001|SNOMEDCT_US:42288005|UMLS:C0278106	hp.json	Ejaculatory incompetence	http://purl.obolibrary.org/obo/HP_0012879							
HP:0012880	biolink:PhenotypicFeature	Abnormal labia minora morphology	An anomaly of the labia minora, the folds of skin between the outer labia.	UMLS:C4022696	hp.json	Abnormality of the inner vaginal lips|Abnormality of the labia minora	http://purl.obolibrary.org/obo/HP_0012880							
HP:0012881	biolink:PhenotypicFeature	Abnormal labia majora morphology	An anomaly of the outer labia.	UMLS:C4022695	hp.json	Abnormality of vaginal lips|Abnormality of the labia majora	http://purl.obolibrary.org/obo/HP_0012881							
HP:0012882	biolink:PhenotypicFeature	Hyperplastic labia majora	Overgrowth of the outer labia.	UMLS:C4021060	hp.json	Enlarged labia majora|Hyperplasia of labia majora	http://purl.obolibrary.org/obo/HP_0012882							
HP:0012883	biolink:PhenotypicFeature	Fallopian tube cyst	A fluid filled sac located in the Fallopian tube.	SNOMEDCT_US:59401005|UMLS:C0269173	hp.json		http://purl.obolibrary.org/obo/HP_0012883							
HP:0012884	biolink:PhenotypicFeature	Fallopian tube torsion	A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.	SNOMEDCT_US:46946009|UMLS:C0269169	hp.json	Twisted fallopian tube	http://purl.obolibrary.org/obo/HP_0012884							
HP:0012885	biolink:PhenotypicFeature	Fallopian tube duplication	The presence of a supernumerary Fallopian tube.	SNOMEDCT_US:48672005|UMLS:C0266375	hp.json	Accessory fallopian tube	http://purl.obolibrary.org/obo/HP_0012885							
HP:0012886	biolink:PhenotypicFeature	Hemorrhagic ovarian cyst	An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.	SNOMEDCT_US:119420007|UMLS:C0473311	hp.json		http://purl.obolibrary.org/obo/HP_0012886							
HP:0012887	biolink:PhenotypicFeature	Ovarian serous cystadenoma	A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.	SNOMEDCT_US:119421006|UMLS:C0346170|UMLS:C4020715	hp.json	Serous ovarian cyst	http://purl.obolibrary.org/obo/HP_0012887							
HP:0012888	biolink:PhenotypicFeature	Abnormality of the uterine cervix	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.	UMLS:C4022694	hp.json		http://purl.obolibrary.org/obo/HP_0012888							
HP:0012889	biolink:PhenotypicFeature	Cervical endometriosis	Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.	SNOMEDCT_US:61640006|UMLS:C0269107	hp.json		http://purl.obolibrary.org/obo/HP_0012889							
HP:0012890	biolink:PhenotypicFeature	Posteriorly placed anus	Posterior malposition of the anus.	UMLS:C4022693	hp.json		http://purl.obolibrary.org/obo/HP_0012890							
HP:0012891	biolink:PhenotypicFeature	High posterior hairline	Hair on the neck extends less inferiorly than usual.	UMLS:C4022692	hp.json	High hairline at back of head	http://purl.obolibrary.org/obo/HP_0012891							
HP:0012892	biolink:PhenotypicFeature	Facial muscle hypertrophy	Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	UMLS:C4022691|UMLS:C4280307	hp.json	Increased size of facial muscles|Large facial muscles|Hyperplasia of facial muscles	http://purl.obolibrary.org/obo/HP_0012892							
HP:0012893	biolink:PhenotypicFeature	Neck muscle hypertrophy	Muscle hypertrophy affecting the muscles of the neck.	UMLS:C4022690|UMLS:C4280306	hp.json	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							
HP:0012894	biolink:PhenotypicFeature	Paraspinal muscle hypertrophy	Muscle hypertrophy affecting the paraspinal muscles.	UMLS:C4022689	hp.json		http://purl.obolibrary.org/obo/HP_0012894							
HP:0012895	biolink:PhenotypicFeature	Scapular muscle hypertrophy	Muscle hypertrophy affecting the scapular muscles.	UMLS:C4022688	hp.json		http://purl.obolibrary.org/obo/HP_0012895							
HP:0012896	biolink:PhenotypicFeature	Abnormal motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.	UMLS:C4022687	hp.json		http://purl.obolibrary.org/obo/HP_0012896							
HP:0012897	biolink:PhenotypicFeature	Abnormal upper-limb motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs) in the arm.	UMLS:C4021059	hp.json	Abnormal motor evoked potentials in the upper limb	http://purl.obolibrary.org/obo/HP_0012897							
HP:0012898	biolink:PhenotypicFeature	Abnormal lower-limb motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs) in the leg.	UMLS:C4021058	hp.json	Abnormal motor evoked potentials in the lower limb	http://purl.obolibrary.org/obo/HP_0012898							
HP:0012899	biolink:PhenotypicFeature	Handgrip myotonia	Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.	UMLS:C1868623	hp.json	Grip myotonia	http://purl.obolibrary.org/obo/HP_0012899							
HP:0012900	biolink:PhenotypicFeature	Myotonia of the face	Slowed relaxation of muscles in the face.	UMLS:C4022686	hp.json		http://purl.obolibrary.org/obo/HP_0012900							
HP:0012901	biolink:PhenotypicFeature	Myotonia of the jaw	Slowed relaxation of muscles in the jaw.	UMLS:C4022685	hp.json		http://purl.obolibrary.org/obo/HP_0012901							
HP:0012902	biolink:PhenotypicFeature	Myotonia of the lower limb	Slowed relaxation of muscles in the leg.	UMLS:C4022684	hp.json		http://purl.obolibrary.org/obo/HP_0012902							
HP:0012903	biolink:PhenotypicFeature	Myotonia of the upper limb	Slowed relaxation of muscles in the arm.	UMLS:C4022683	hp.json		http://purl.obolibrary.org/obo/HP_0012903							
HP:0012904	biolink:PhenotypicFeature	Cold-sensitive myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.	UMLS:C4022682	hp.json		http://purl.obolibrary.org/obo/HP_0012904							
HP:0012905	biolink:PhenotypicFeature	Euryblepharon	Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.	SNOMEDCT_US:400954002|UMLS:C1303001|UMLS:C4280305	hp.json	Kabuki syndrome eyelids	http://purl.obolibrary.org/obo/HP_0012905							
HP:0020006	biolink:PhenotypicFeature	Ciliary body coloboma	A coloboma of the ciliary body.	UMLS:C4072884	hp.json		http://purl.obolibrary.org/obo/HP_0020006							
HP:0020034	biolink:PhenotypicFeature	Diffuse	A spatial pattern that is spread out, i.e., not localized.	SNOMEDCT_US:19648000|UMLS:C0205219	hp.json		http://purl.obolibrary.org/obo/HP_0020034							
HP:0020035	biolink:PhenotypicFeature	Lower limb dysmetria	A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.		hp.json		http://purl.obolibrary.org/obo/HP_0020035							
HP:0020036	biolink:PhenotypicFeature	Upper limb dysmetria	A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.		hp.json		http://purl.obolibrary.org/obo/HP_0020036							
HP:0020037	biolink:PhenotypicFeature	Astasia	A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.		hp.json		http://purl.obolibrary.org/obo/HP_0020037							
HP:0020038	biolink:PhenotypicFeature	Vertebrobasilar dolichoectasia	Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.		hp.json		http://purl.obolibrary.org/obo/HP_0020038							
HP:0020041	biolink:PhenotypicFeature	Double elevator palsy	A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.		hp.json		http://purl.obolibrary.org/obo/HP_0020041							
HP:0020042	biolink:PhenotypicFeature	Double depressor palsy	An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.		hp.json		http://purl.obolibrary.org/obo/HP_0020042							
HP:0020043	biolink:PhenotypicFeature	Vertical incomitant strabismus	A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.		hp.json		http://purl.obolibrary.org/obo/HP_0020043							
HP:0020044	biolink:PhenotypicFeature	Horizontal incomitant strabismus			hp.json		http://purl.obolibrary.org/obo/HP_0020044							
HP:0020045	biolink:PhenotypicFeature	Esodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.		hp.json	Convergent strabismus	http://purl.obolibrary.org/obo/HP_0020045							
HP:0020046	biolink:PhenotypicFeature	Accommodative esotropia	A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.		hp.json		http://purl.obolibrary.org/obo/HP_0020046							
HP:0020047	biolink:PhenotypicFeature	Abnormal myeloid cell morphology	Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.		hp.json		http://purl.obolibrary.org/obo/HP_0020047							
HP:0020048	biolink:PhenotypicFeature	Reduced bone-marrow pro-B cell count	A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.		hp.json		http://purl.obolibrary.org/obo/HP_0020048							
HP:0020049	biolink:PhenotypicFeature	Exodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.		hp.json	Divergent strabismus	http://purl.obolibrary.org/obo/HP_0020049							
HP:0020050	biolink:PhenotypicFeature	Anti-granulocyte-macrophage colony stimulating factor antibody positivity	The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.		hp.json	Anti-GM-CSF antibody positivity	http://purl.obolibrary.org/obo/HP_0020050							
HP:0020054	biolink:PhenotypicFeature	Abnormal erythrocyte physiology	Any functional abnormality of erythrocytes (red-blood cells).		hp.json		http://purl.obolibrary.org/obo/HP_0020054							
HP:0020058	biolink:PhenotypicFeature	Abnormal red blood cell count	Any deviation from the normal number of red blood cells per volume in the circulation.		hp.json	Abnormal RBC count	http://purl.obolibrary.org/obo/HP_0020058							
HP:0020059	biolink:PhenotypicFeature	Increased red blood cell count	An abnormal elevation above the normal number of red blood cells per volume in the circulation.		hp.json	Increased RBC count	http://purl.obolibrary.org/obo/HP_0020059							
HP:0020060	biolink:PhenotypicFeature	Decreased red blood cell count	An abnormal reduction below the normal number of red blood cells per volume in the circulation.		hp.json	Decreased RBC count	http://purl.obolibrary.org/obo/HP_0020060							
HP:0020061	biolink:PhenotypicFeature	Abnormal hemoglobin concentration	Any deviation from the normal concentration of hemoglobin in the blood.		hp.json	Abnormal Hb concentration|Abnormal haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020061							
HP:0020062	biolink:PhenotypicFeature	Decreased hemoglobin concentration	An abnormal reduction below normal hemoglobin concentration in the circulation.		hp.json	Decreased Hb concentration|Decreased haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020062							
HP:0020063	biolink:PhenotypicFeature	Increased hemoglobin concentration	An abnormal elevation above normal hemoglobin concentration in the circulation.		hp.json	Increased Hb concentration|Increased haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020063							
HP:0020064	biolink:PhenotypicFeature	Abnormal eosinophil count	Any deviation from the normal number of eosinophils per volume in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020064							
HP:0020071	biolink:PhenotypicFeature	Viremia	The presence of virus in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0020071							
HP:0020072	biolink:PhenotypicFeature	Persistent EBV viremia	Persistent presence of Epstein-Barr virus in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0020072							
HP:0020073	biolink:PhenotypicFeature	Hypopigmented macule	A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.		hp.json		http://purl.obolibrary.org/obo/HP_0020073							
HP:0020074	biolink:PhenotypicFeature	Crystalluria	The presence of crystals in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020074							
HP:0020075	biolink:PhenotypicFeature	Leucine crystalluria	The presence of leuucine crystals in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020075							
HP:0020076	biolink:PhenotypicFeature	Wrist ganglion	A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.		hp.json	Ganglion cyst of the wrist	http://purl.obolibrary.org/obo/HP_0020076							
HP:0020077	biolink:PhenotypicFeature	Carnitinuria	An elevated level of carnitine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020077							
HP:0020078	biolink:PhenotypicFeature	Alaninuria	An increased level of alanine in the urine.		hp.json	Increased urinary alanine	http://purl.obolibrary.org/obo/HP_0020078							
HP:0020079	biolink:PhenotypicFeature	Beta-alaninuria	An increased level of beta-alanine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020079							
HP:0020080	biolink:PhenotypicFeature	Erythrocyte inclusion bodies	Nuclear or cytoplasmic aggregates of substances in red blood cells.		hp.json		http://purl.obolibrary.org/obo/HP_0020080							
HP:0020081	biolink:PhenotypicFeature	Pappenheimer bodies	A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).		hp.json		http://purl.obolibrary.org/obo/HP_0020081							
HP:0020082	biolink:PhenotypicFeature	Heinz bodies	A type of erythrocyte inclusion composed of denatured hemoglobin.		hp.json		http://purl.obolibrary.org/obo/HP_0020082							
HP:0020083	biolink:PhenotypicFeature	Furuncle	An infection of a hair follicle that extends subcutaneously, forming an abscess.		hp.json	Boil	http://purl.obolibrary.org/obo/HP_0020083							
HP:0020084	biolink:PhenotypicFeature	Carbuncle	A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle.		hp.json		http://purl.obolibrary.org/obo/HP_0020084							
HP:0020085	biolink:PhenotypicFeature	Infection following live vaccination	An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.		hp.json		http://purl.obolibrary.org/obo/HP_0020085							
HP:0020086	biolink:PhenotypicFeature	BCGitis	Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0020086							
HP:0020087	biolink:PhenotypicFeature	BCGosis	Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.		hp.json	BCGiosis|Disseminated Bacillus Calmette-Guerin infection	http://purl.obolibrary.org/obo/HP_0020087							
HP:0020088	biolink:PhenotypicFeature	Post-vaccination measles	Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.		hp.json	Vaccine associated measles	http://purl.obolibrary.org/obo/HP_0020088							
HP:0020089	biolink:PhenotypicFeature	Post-vaccination rubella	Infection with the rubella virus of the live-attenuated vaccine.		hp.json		http://purl.obolibrary.org/obo/HP_0020089							
HP:0020090	biolink:PhenotypicFeature	Post-vaccination polio	Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.		hp.json		http://purl.obolibrary.org/obo/HP_0020090							
HP:0020091	biolink:PhenotypicFeature	Post-vaccination rotavirus infection	Infection with live attenuated rotavirus vaccine following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0020091							
HP:0020093	biolink:PhenotypicFeature	Recurrent deep organ abscess formation	Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.		hp.json		http://purl.obolibrary.org/obo/HP_0020093							
HP:0020095	biolink:PhenotypicFeature	Prolonged need of intravenous antibiotic therapy	Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.		hp.json		http://purl.obolibrary.org/obo/HP_0020095							
HP:0020096	biolink:PhenotypicFeature	Recurrent streptococcal infections	Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.		hp.json		http://purl.obolibrary.org/obo/HP_0020096							
HP:0020097	biolink:PhenotypicFeature	Infection due to encapsulated bacteria	An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.		hp.json		http://purl.obolibrary.org/obo/HP_0020097							
HP:0020098	biolink:PhenotypicFeature	Herpes encephalitis	Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.		hp.json		http://purl.obolibrary.org/obo/HP_0020098							
HP:0020099	biolink:PhenotypicFeature	Severe norovirus infection	An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.		hp.json		http://purl.obolibrary.org/obo/HP_0020099							
HP:0020100	biolink:PhenotypicFeature	Unusual fungal infection	An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.		hp.json		http://purl.obolibrary.org/obo/HP_0020100							
HP:0020101	biolink:PhenotypicFeature	Invasive fungal infection	Fungal infection characterized by invasion of host tissues.		hp.json		http://purl.obolibrary.org/obo/HP_0020101							
HP:0020102	biolink:PhenotypicFeature	Pneumocystis jirovecii pneumonia	An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.		hp.json		http://purl.obolibrary.org/obo/HP_0020102							
HP:0020103	biolink:PhenotypicFeature	Invasive pulmonary aspergillosis	Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.		hp.json		http://purl.obolibrary.org/obo/HP_0020103							
HP:0020104	biolink:PhenotypicFeature	Unusual protozoan infection	An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.		hp.json		http://purl.obolibrary.org/obo/HP_0020104							
HP:0020105	biolink:PhenotypicFeature	Severe toxoplasmosis	Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).		hp.json		http://purl.obolibrary.org/obo/HP_0020105							
HP:0020106	biolink:PhenotypicFeature	Severe giardiasis	An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.		hp.json		http://purl.obolibrary.org/obo/HP_0020106							
HP:0020107	biolink:PhenotypicFeature	Unusual helminthic infection	An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).		hp.json		http://purl.obolibrary.org/obo/HP_0020107							
HP:0020108	biolink:PhenotypicFeature	Unusual parasitic infection	An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.		hp.json		http://purl.obolibrary.org/obo/HP_0020108							
HP:0020110	biolink:PhenotypicFeature	Bone fracture	A partial or complete breakage of the continuity of a bone.		hp.json		http://purl.obolibrary.org/obo/HP_0020110							
HP:0020111	biolink:PhenotypicFeature	Abnormal CD4+CD25+ regulatory T cell proportion	A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.		hp.json	Abnormal CD4+CD25+ Treg cell proportion	http://purl.obolibrary.org/obo/HP_0020111							
HP:0020112	biolink:PhenotypicFeature	Increased proportion of CD4+CD25+ regulatory T cells	An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.		hp.json	Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells	http://purl.obolibrary.org/obo/HP_0020112							
HP:0020113	biolink:PhenotypicFeature	Decreased proportion of CD4+CD25+ regulatory T cells	An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.		hp.json	Decreased proportion of CD4+CD25+ Treg cells|Reduced proportion of CD4+CD25+ regulatory T cells	http://purl.obolibrary.org/obo/HP_0020113							
HP:0020114	biolink:PhenotypicFeature	Persistent human papillomavirus infection	Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.		hp.json		http://purl.obolibrary.org/obo/HP_0020114							
HP:0020117	biolink:PhenotypicFeature	Hypoplastic dermoepidermal hemidesmosomes	Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.		hp.json		http://purl.obolibrary.org/obo/HP_0020117							
HP:0020118	biolink:PhenotypicFeature	Radial artery aplasia	Congenital absence of the radial artery.		hp.json		http://purl.obolibrary.org/obo/HP_0020118							
HP:0020119	biolink:PhenotypicFeature	Abnormal retinal nerve fiber layer morphology	A structural abnormality of the retinal nerve fiber layer		hp.json	Abnormal retinal nerve fibre layer morphology	http://purl.obolibrary.org/obo/HP_0020119							
HP:0020120	biolink:PhenotypicFeature	Retinal nerve fiber edema	Swelling (edema) of the retinal nerve fibers.		hp.json	Retinal nerve fibre oedema	http://purl.obolibrary.org/obo/HP_0020120							
HP:0020121	biolink:PhenotypicFeature	Conception by assisted reproductive technology	A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.		hp.json		http://purl.obolibrary.org/obo/HP_0020121							
HP:0020122	biolink:PhenotypicFeature	Bite cells	Red blood cells that appear to have parts of them bitten away.		hp.json	Blister cells|Degmacytes	http://purl.obolibrary.org/obo/HP_0020122							
HP:0020123	biolink:PhenotypicFeature	Tympanosclerosis	A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.		hp.json	Tympanic calcification	http://purl.obolibrary.org/obo/HP_0020123							
HP:0020125	biolink:PhenotypicFeature	Spontaneous conjunctival filtering bleb	Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.		hp.json	Conjunctival avascular cysts (filtering blebs)|Spontaneous filtering bleb	http://purl.obolibrary.org/obo/HP_0020125							
HP:0020126	biolink:PhenotypicFeature	Prostate mass	A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.		hp.json		http://purl.obolibrary.org/obo/HP_0020126							
HP:0020127	biolink:PhenotypicFeature	Periarticular soft-tissue mass	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.json		http://purl.obolibrary.org/obo/HP_0020127							
HP:0020128	biolink:PhenotypicFeature	Aplasia of the olfactory tract	Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.		hp.json		http://purl.obolibrary.org/obo/HP_0020128							
HP:0020129	biolink:PhenotypicFeature	Abnormal urine protein level	Any deviation of the concentration of one or more proteins in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020129							
HP:0020130	biolink:PhenotypicFeature	Increased urinary neutrophil gelatinase-associated lipocalin	An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).		hp.json	Increased urinary NGAL	http://purl.obolibrary.org/obo/HP_0020130							
HP:0020131	biolink:PhenotypicFeature	Abnormal tubular basement membrane morphology	Abnormal structure of the basement membrane of the renal tubulus.		hp.json		http://purl.obolibrary.org/obo/HP_0020131							
HP:0020132	biolink:PhenotypicFeature	Thickening of the tubular basement membrane	Increase in thickness of the basement membrane of the tubulus of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0020132							
HP:0020133	biolink:PhenotypicFeature	Podocyte hypertrophy	Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.		hp.json	Glomerular visceral epithelial cell hypertrophy|Hypertrophy of visceral epithelial cells	http://purl.obolibrary.org/obo/HP_0020133							
HP:0020134	biolink:PhenotypicFeature	Increased urine neutrophil count	Abnormally increased count of neutrophils in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020134							
HP:0020135	biolink:PhenotypicFeature	Myofibromatosis	A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.		hp.json		http://purl.obolibrary.org/obo/HP_0020135							
HP:0020136	biolink:PhenotypicFeature	Anticardiolipin IgG antibody positivity	The presence of circulating IgG autoantibodies to cardiolipin.		hp.json		http://purl.obolibrary.org/obo/HP_0020136							
HP:0020137	biolink:PhenotypicFeature	Anticardiolipin IgM antibody positivity	The presence of circulating IgM autoantibodies to cardiolipin.		hp.json		http://purl.obolibrary.org/obo/HP_0020137							
HP:0020138	biolink:PhenotypicFeature	History of recent animal bite	Medical history of a recent bite injury due to an animal.		hp.json		http://purl.obolibrary.org/obo/HP_0020138							
HP:0020139	biolink:PhenotypicFeature	History of recent insect bite	Medical history of a recent bite injury due to an insect.		hp.json		http://purl.obolibrary.org/obo/HP_0020139							
HP:0020140	biolink:PhenotypicFeature	History of recent tick bite	Medical history of a recent bite injury due to a tick.		hp.json		http://purl.obolibrary.org/obo/HP_0020140							
HP:0020141	biolink:PhenotypicFeature	Blood pressure substantially higher in legs than arms	An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.		hp.json	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							
HP:0020142	biolink:PhenotypicFeature	Blood pressure substantially higher in arms than legs	An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.		hp.json	Blood pressure substantially higher in upper than lower extremities|Increased arm-leg blood pressure gradient	http://purl.obolibrary.org/obo/HP_0020142							
HP:0020143	biolink:PhenotypicFeature	Tracheal duplication cyst	A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.		hp.json		http://purl.obolibrary.org/obo/HP_0020143							
HP:0020144	biolink:PhenotypicFeature	Calcium phosphate crystalluria	The presence of calcium phosphate crystals in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020144							
HP:0020145	biolink:PhenotypicFeature	Calcium oxalate crystalluria	The presence of calcium oxalate crystals in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020145							
HP:0020146	biolink:PhenotypicFeature	Calcium carbonate crystalluria	The presence of calcium carbonate crystals in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020146							
HP:0020147	biolink:PhenotypicFeature	2-Methylbutyryl glycinuria	Increased concentration of 2-methylbutyryl glycine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0020147							
HP:0020148	biolink:PhenotypicFeature	Increased circulating mead acid level	An abnormally elevated concentration od mead acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020148							
HP:0020149	biolink:PhenotypicFeature	Elevated circulating succinate	An increase concentration of succinate in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020149							
HP:0020150	biolink:PhenotypicFeature	Elevated urinary uromodulin	An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.		hp.json	Elevated urinary Tamm-Horsfall protein concentration	http://purl.obolibrary.org/obo/HP_0020150							
HP:0020151	biolink:PhenotypicFeature	Anti-dsDNA antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.		hp.json		http://purl.obolibrary.org/obo/HP_0020151							
HP:0020152	biolink:PhenotypicFeature	Distal joint laxity	Lack of stability of a distal joint (e.g., finger).		hp.json		http://purl.obolibrary.org/obo/HP_0020152							
HP:0020153	biolink:PhenotypicFeature	Positive blood 1,3 beta glucan test	Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.		hp.json		http://purl.obolibrary.org/obo/HP_0020153							
HP:0020154	biolink:PhenotypicFeature	Nevus comedonicus	A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.		hp.json		http://purl.obolibrary.org/obo/HP_0020154							
HP:0020155	biolink:PhenotypicFeature	Abnormal oocyte morphology	An abnormal structure of the female germ cell (egg cell).		hp.json		http://purl.obolibrary.org/obo/HP_0020155							
HP:0020156	biolink:PhenotypicFeature	Abnormal zona pellucida morphology	Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.		hp.json		http://purl.obolibrary.org/obo/HP_0020156							
HP:0020157	biolink:PhenotypicFeature	Thin zona pellucida	Reduced thickness of the zona pellucida.		hp.json		http://purl.obolibrary.org/obo/HP_0020157							
HP:0020158	biolink:PhenotypicFeature	Increased circulating adrenic acid concentration	An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.		hp.json	Increased circulating docosatetraenoate level	http://purl.obolibrary.org/obo/HP_0020158							
HP:0020159	biolink:PhenotypicFeature	Reduced response to gonadotropin-releasing hormone stimulation test	Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.		hp.json	Reduce response to GnRH stimulation test	http://purl.obolibrary.org/obo/HP_0020159							
HP:0020160	biolink:PhenotypicFeature	GM1-ganglioside accumulation	Cellular accumulation of GM1 gangliosides.		hp.json		http://purl.obolibrary.org/obo/HP_0020160							
HP:0020161	biolink:PhenotypicFeature	Branch retinal artery occlusion	Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.		hp.json		http://purl.obolibrary.org/obo/HP_0020161							
HP:0020163	biolink:PhenotypicFeature	Cilioretinal artery occlusion	Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.		hp.json		http://purl.obolibrary.org/obo/HP_0020163							
HP:0020164	biolink:PhenotypicFeature	Ophthalmic artery occlusion	A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.		hp.json		http://purl.obolibrary.org/obo/HP_0020164							
HP:0020165	biolink:PhenotypicFeature	Branch retinal vein occlusion	Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.		hp.json		http://purl.obolibrary.org/obo/HP_0020165							
HP:0020166	biolink:PhenotypicFeature	Central retinal vein occlusion	Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.		hp.json		http://purl.obolibrary.org/obo/HP_0020166							
HP:0020167	biolink:PhenotypicFeature	Hemiretinal vein occlusion	A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.		hp.json		http://purl.obolibrary.org/obo/HP_0020167							
HP:0020169	biolink:PhenotypicFeature	Abnormal drug response	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.json		http://purl.obolibrary.org/obo/HP_0020169							
HP:0020170	biolink:PhenotypicFeature	Increased blood drug concentration	High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.		hp.json	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							
HP:0020171	biolink:PhenotypicFeature	Decreased blood drug concentration	Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.		hp.json	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							
HP:0020172	biolink:PhenotypicFeature	Adverse drug response	An unpleasant or harmful reaction resulting from treatment with a drug.		hp.json	Adverse drug reaction|Drug-induced reaction|Drug-induced response|Toxic drug response	http://purl.obolibrary.org/obo/HP_0020172							
HP:0020173	biolink:PhenotypicFeature	Reduced drug efficacy	Decreased response to a drug intervention in comparison to the expected response.		hp.json	Decreased drug efficacy	http://purl.obolibrary.org/obo/HP_0020173							
HP:0020174	biolink:PhenotypicFeature	Refractory drug response	Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.		hp.json	Drug resistance	http://purl.obolibrary.org/obo/HP_0020174							
HP:0020175	biolink:PhenotypicFeature	Reduced cholinesterase level	A decreased amount of cholinesterase in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020175							
HP:0020176	biolink:PhenotypicFeature	Cholesterol crystalluria			hp.json		http://purl.obolibrary.org/obo/HP_0020176							
HP:0020177	biolink:PhenotypicFeature	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.		hp.json	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated	http://purl.obolibrary.org/obo/HP_0020177							
HP:0020178	biolink:PhenotypicFeature	Abnormal dendritic cell count	A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).		hp.json		http://purl.obolibrary.org/obo/HP_0020178							
HP:0020179	biolink:PhenotypicFeature	Abnormal haptoglobin level	A deviation from the normal concentration of haptoglobin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020179							
HP:0020180	biolink:PhenotypicFeature	Elevated haptoglobin level	An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.		hp.json		http://purl.obolibrary.org/obo/HP_0020180							
HP:0020181	biolink:PhenotypicFeature	Reduced haptoglobin level	An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.		hp.json		http://purl.obolibrary.org/obo/HP_0020181							
HP:0020182	biolink:PhenotypicFeature	Abnormal A-type atrial natriuretic peptide level	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.json		http://purl.obolibrary.org/obo/HP_0020182							
HP:0020183	biolink:PhenotypicFeature	Increased circulating A-type natriuretic peptide level	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.json		http://purl.obolibrary.org/obo/HP_0020183							
HP:0020184	biolink:PhenotypicFeature	Decreased circulating A-type natriuretic peptide level	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.json		http://purl.obolibrary.org/obo/HP_0020184							
HP:0020185	biolink:PhenotypicFeature	Superior cerebellar dysplasia	Abnormal morphological development of the superior part of the cerebellum.		hp.json		http://purl.obolibrary.org/obo/HP_0020185							
HP:0020186	biolink:PhenotypicFeature	Multilobulated spleen	The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.		hp.json	Multi-lobulated spleen	http://purl.obolibrary.org/obo/HP_0020186							
HP:0020187	biolink:PhenotypicFeature	Thick pachygyria	Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.		hp.json	Pachygyria with cortical thickness > 10 mm|Pachygyria with cortical thickness above 10 mm	http://purl.obolibrary.org/obo/HP_0020187							
HP:0020188	biolink:PhenotypicFeature	Anterior predominant pachygyria with 5-10 mm cortical thickness	Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.		hp.json		http://purl.obolibrary.org/obo/HP_0020188							
HP:0020189	biolink:PhenotypicFeature	Posterior predominant thick cortex pachygyria	Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.		hp.json	Occipital predomimant classic pachygyria|Pachygyria with cortical thickness over 10 mm posterior predominant	http://purl.obolibrary.org/obo/HP_0020189							
HP:0020190	biolink:PhenotypicFeature	Perisylvian predominant thick cortex pachygyria	Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.		hp.json	Pachygyria with cortical thickness > 10 mm perisylvian predominant	http://purl.obolibrary.org/obo/HP_0020190							
HP:0020191	biolink:PhenotypicFeature	Anterior predominant thick cortex pachygyria	Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.		hp.json	Pachygyria with cortical thickness > 10 mm anterior predominant	http://purl.obolibrary.org/obo/HP_0020191							
HP:0020192	biolink:PhenotypicFeature	Pachygyria with 5-10 mm cortical thickness	Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.		hp.json		http://purl.obolibrary.org/obo/HP_0020192							
HP:0020193	biolink:PhenotypicFeature	Prolonged reptilase time	An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.		hp.json		http://purl.obolibrary.org/obo/HP_0020193							
HP:0020194	biolink:PhenotypicFeature	IgA heavy chain paraproteinemia	An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.		hp.json	Alpha heavy chain disease	http://purl.obolibrary.org/obo/HP_0020194							
HP:0020195	biolink:PhenotypicFeature	IgG heavy chain paraproteinemia	An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.		hp.json	Gamma heavy-chain disease	http://purl.obolibrary.org/obo/HP_0020195							
HP:0020196	biolink:PhenotypicFeature	IgM heavy chain paraproteinemia	An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0020196							
HP:0020197	biolink:PhenotypicFeature	Increased circulating arachidonic acid concentration	An increased circulation of arachidonic acid in the blood circulation.		hp.json	Increased circulating arachidonate level|Increased circulating arachidonic acid level	http://purl.obolibrary.org/obo/HP_0020197							
HP:0020198	biolink:PhenotypicFeature	Abnormal circulating 18-hydroxycorticosterone level	Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020198							
HP:0020199	biolink:PhenotypicFeature	Decreased circulating 18-hydroxycortisone level	A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020199							
HP:0020200	biolink:PhenotypicFeature	Increased circulating 18-hydroxycortisone level	An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0020200							
HP:0020201	biolink:PhenotypicFeature	Abnormal sarcomere morphology	Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.		hp.json		http://purl.obolibrary.org/obo/HP_0020201							
HP:0020202	biolink:PhenotypicFeature	Abnormal Z disc morphology	Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.		hp.json		http://purl.obolibrary.org/obo/HP_0020202							
HP:0020203	biolink:PhenotypicFeature	Z-band streaming	Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.		hp.json		http://purl.obolibrary.org/obo/HP_0020203							
HP:0020204	biolink:PhenotypicFeature	Tubulointerstitial bacterial infiltration	Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.		hp.json	Renal tubulointerstitial bacterial organisms	http://purl.obolibrary.org/obo/HP_0020204							
HP:0020205	biolink:PhenotypicFeature	Tubulointerstitial fungal infiltration	Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.		hp.json	Renal tubulointerstitial fungal organisms	http://purl.obolibrary.org/obo/HP_0020205							
HP:0020206	biolink:PhenotypicFeature	Simple ear	The pinna has fewer folds and grooves than usual.		hp.json		http://purl.obolibrary.org/obo/HP_0020206							
HP:0020207	biolink:PhenotypicFeature	Reflex seizure	Seizures precipitated by exogenous stimuli.		hp.json		http://purl.obolibrary.org/obo/HP_0020207							
HP:0020208	biolink:PhenotypicFeature	Eating-induced seizure	A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.		hp.json		http://purl.obolibrary.org/obo/HP_0020208							
HP:0020209	biolink:PhenotypicFeature	Hot water-induced seizure	A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.		hp.json		http://purl.obolibrary.org/obo/HP_0020209							
HP:0020210	biolink:PhenotypicFeature	Praxis-induced seizure	A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.		hp.json		http://purl.obolibrary.org/obo/HP_0020210							
HP:0020211	biolink:PhenotypicFeature	Proprioceptive-induced seizure	A seizure precipitated by movement or a change in posture.		hp.json		http://purl.obolibrary.org/obo/HP_0020211							
HP:0020212	biolink:PhenotypicFeature	Reading-induced seizure	A seizure precipitated by reading.		hp.json		http://purl.obolibrary.org/obo/HP_0020212							
HP:0020213	biolink:PhenotypicFeature	Somatosensory-induced seizure	A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.		hp.json		http://purl.obolibrary.org/obo/HP_0020213							
HP:0020214	biolink:PhenotypicFeature	Startle-induced seizure	Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.		hp.json		http://purl.obolibrary.org/obo/HP_0020214							
HP:0020215	biolink:PhenotypicFeature	Thinking-induced seizure	Seizures induced by thinking and decision-making. comment:		hp.json	Cognition induced seizure	http://purl.obolibrary.org/obo/HP_0020215							
HP:0020216	biolink:PhenotypicFeature	Visually-induced seizure	Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.		hp.json	Photosensitive seizure	http://purl.obolibrary.org/obo/HP_0020216							
HP:0020217	biolink:PhenotypicFeature	Focal aware motor seizure	A type of focal motor seizure in which awareness is retained throughout the seizure.		hp.json	Focal motor aware seizure	http://purl.obolibrary.org/obo/HP_0020217							
HP:0020218	biolink:PhenotypicFeature	Focal aware atonic seizure	A type of focal atonic seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0020218							
HP:0020219	biolink:PhenotypicFeature	Motor seizure	A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.		hp.json		http://purl.obolibrary.org/obo/HP_0020219							
HP:0020220	biolink:PhenotypicFeature	Focal atonic seizure	A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.		hp.json	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							
HP:0020221	biolink:PhenotypicFeature	Clonic seizure	A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.		hp.json		http://purl.obolibrary.org/obo/HP_0020221							
HP:0025004	biolink:PhenotypicFeature	Hallux rigidus	Osteoarthritis of the metatarsophalangeal joint of the first toe.	MSH:D020859|SNOMEDCT_US:6654000|UMLS:C0264134	hp.json	Arthritis of the big toe	http://purl.obolibrary.org/obo/HP_0025004							
HP:0025005	biolink:PhenotypicFeature	Thickening of glomerular capillary wall	Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.		hp.json		http://purl.obolibrary.org/obo/HP_0025005							
HP:0025006	biolink:PhenotypicFeature	Abnormal glomerular capillary morphology	A structural anomaly of the capillary blood vessels in the renal glomerulus.		hp.json	Abnormalities of the glomerular capillary wall	http://purl.obolibrary.org/obo/HP_0025006							
HP:0025007	biolink:PhenotypicFeature	Ectopic fovea	An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.		hp.json	Ectopic macula	http://purl.obolibrary.org/obo/HP_0025007							
HP:0025008	biolink:PhenotypicFeature	Tracheal tug on inspiration	Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.		hp.json		http://purl.obolibrary.org/obo/HP_0025008							
HP:0025009	biolink:PhenotypicFeature	Forward slanting upper incisors	The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.		hp.json	Forward directed upper incisors|Proclination of the upper incisors|Protruding upper incisors	http://purl.obolibrary.org/obo/HP_0025009							
HP:0025010	biolink:PhenotypicFeature	Foveal atrophy	Partial or complete loss of foveal tissue that was once present.		hp.json		http://purl.obolibrary.org/obo/HP_0025010							
HP:0025011	biolink:PhenotypicFeature	Pyriform aperture stenosis	Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.		hp.json		http://purl.obolibrary.org/obo/HP_0025011							
HP:0025012	biolink:PhenotypicFeature	Status cribrosum	Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.		hp.json		http://purl.obolibrary.org/obo/HP_0025012							
HP:0025013	biolink:PhenotypicFeature	Decerebrate rigidity	A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.		hp.json	Decerebrate posturing	http://purl.obolibrary.org/obo/HP_0025013							
HP:0025014	biolink:PhenotypicFeature	Subcutaneous spheroids	Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.		hp.json		http://purl.obolibrary.org/obo/HP_0025014							
HP:0025015	biolink:PhenotypicFeature	Abnormal vascular morphology			hp.json		http://purl.obolibrary.org/obo/HP_0025015							
HP:0025016	biolink:PhenotypicFeature	Abnormal capillary morphology	A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.		hp.json		http://purl.obolibrary.org/obo/HP_0025016							
HP:0025017	biolink:PhenotypicFeature	Capillary fragility	Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).		hp.json		http://purl.obolibrary.org/obo/HP_0025017							
HP:0025018	biolink:PhenotypicFeature	Abnormal capillary physiology	A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.		hp.json		http://purl.obolibrary.org/obo/HP_0025018							
HP:0025019	biolink:PhenotypicFeature	Arterial rupture	Sudden breakage of an artery leading to leakage of blood from the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025019							
HP:0025020	biolink:PhenotypicFeature	Elevated prostate-specific antigen level	An increased concentration of prostate specific antigen (PSA) in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025020							
HP:0025021	biolink:PhenotypicFeature	Abnormal erythrocyte sedimentation rate	A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.		hp.json	Abnormal ESR|Abnormal Westergren sedimentation rate	http://purl.obolibrary.org/obo/HP_0025021							
HP:0025022	biolink:PhenotypicFeature	Decreased erythrocyte sedimentation rate	A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.		hp.json	Decreased ESR|Low ESR	http://purl.obolibrary.org/obo/HP_0025022							
HP:0025023	biolink:PhenotypicFeature	Rectal atresia	A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.		hp.json	Atresia of the rectum	http://purl.obolibrary.org/obo/HP_0025023							
HP:0025024	biolink:PhenotypicFeature	Megarectum	An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.		hp.json		http://purl.obolibrary.org/obo/HP_0025024							
HP:0025025	biolink:PhenotypicFeature	Rectovestibular fistula	A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.		hp.json	Vestibular fistula	http://purl.obolibrary.org/obo/HP_0025025							
HP:0025026	biolink:PhenotypicFeature	H-type rectovestibular fistula	Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.		hp.json		http://purl.obolibrary.org/obo/HP_0025026							
HP:0025027	biolink:PhenotypicFeature	Osteoma cutis	The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.		hp.json	Cutaneous osteosis|Miliary osteoma|Osteomatosis	http://purl.obolibrary.org/obo/HP_0025027							
HP:0025028	biolink:PhenotypicFeature	Abnormality of enteric nervous system morphology	A structural anomaly of nerves of the enteric nervous system.		hp.json		http://purl.obolibrary.org/obo/HP_0025028							
HP:0025029	biolink:PhenotypicFeature	Abnormality of enteric neuron morphology			hp.json		http://purl.obolibrary.org/obo/HP_0025029							
HP:0025030	biolink:PhenotypicFeature	Enteric neuronal degeneration	Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.		hp.json	Degenerative enteric neuropathy	http://purl.obolibrary.org/obo/HP_0025030							
HP:0025031	biolink:PhenotypicFeature	Abnormality of the digestive system			hp.json		http://purl.obolibrary.org/obo/HP_0025031							
HP:0025032	biolink:PhenotypicFeature	Abnormality of digestive system physiology	A functional anomaly of the digestive system.		hp.json		http://purl.obolibrary.org/obo/HP_0025032							
HP:0025033	biolink:PhenotypicFeature	Abnormality of digestive system morphology	A structural anomaly of the digestive system.		hp.json		http://purl.obolibrary.org/obo/HP_0025033							
HP:0025034	biolink:PhenotypicFeature	Abnormal morphology of erythroid progenitor cell	Abnormal form of the progenitor cells committed to the erythroid lineage.		hp.json		http://purl.obolibrary.org/obo/HP_0025034							
HP:0025035	biolink:PhenotypicFeature	Abnormal proerythroblast morphology	Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.		hp.json		http://purl.obolibrary.org/obo/HP_0025035							
HP:0025037	biolink:PhenotypicFeature	Hypothalamic gliosis	Focal proliferation of glial cells in the hypothalamus.		hp.json		http://purl.obolibrary.org/obo/HP_0025037							
HP:0025038	biolink:PhenotypicFeature	Intratesticular abscess	A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.		hp.json	Testicular abscess	http://purl.obolibrary.org/obo/HP_0025038							
HP:0025039	biolink:PhenotypicFeature	Basal ganglia edema	Swelling within the basal ganglia due to the accumulation of fluid.		hp.json	Basal ganglia oedema|Edema of the basal ganglia|Oedema of the basal ganglia	http://purl.obolibrary.org/obo/HP_0025039							
HP:0025040	biolink:PhenotypicFeature	Thalamic edema	Swelling within the thalamus due to the accumulation of fluid.		hp.json	Edema of the thalamus|Oedema of the thalamus|Thalamic oedema	http://purl.obolibrary.org/obo/HP_0025040							
HP:0025041	biolink:PhenotypicFeature	Thalamic calcification	Calcium deposition in the thalamus.		hp.json		http://purl.obolibrary.org/obo/HP_0025041							
HP:0025042	biolink:PhenotypicFeature	Abnormality of mesenteric lymph nodes	A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.		hp.json		http://purl.obolibrary.org/obo/HP_0025042							
HP:0025043	biolink:PhenotypicFeature	Enlarged mesenteric lymph node	Increase in size of one or more mesenteric lymph nodes.		hp.json		http://purl.obolibrary.org/obo/HP_0025043							
HP:0025044	biolink:PhenotypicFeature	Lung abscess	A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.		hp.json		http://purl.obolibrary.org/obo/HP_0025044							
HP:0025045	biolink:PhenotypicFeature	Abnormal brain lactate level by MRS	A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Abnormal lactate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025045							
HP:0025046	biolink:PhenotypicFeature	Reduced brain lactate level by MRS	A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Reduced brain lactate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025046							
HP:0025047	biolink:PhenotypicFeature	Abnormal brain choline level by MRS	A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Abnormal brain choline level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025047							
HP:0025048	biolink:PhenotypicFeature	Reduced brain choline level by MRS	An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Reduced brain choline level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025048							
HP:0025049	biolink:PhenotypicFeature	Abnormal brain creatine level by MRS			hp.json	Abnormal brain creatine level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025049							
HP:0025050	biolink:PhenotypicFeature	Elevated brain creatine level by MRS	An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Elevated brain creatine level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025050							
HP:0025051	biolink:PhenotypicFeature	Reduced brain creatine level by MRS	A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Low brain creatine phosphate|Reduced brain creatine level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025051							
HP:0025052	biolink:PhenotypicFeature	Abnormal brain N-acetyl aspartate level by MRS	A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025052							
HP:0025053	biolink:PhenotypicFeature	Elevated brain N-acetyl aspartate level by MRS	An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025053							
HP:0025057	biolink:PhenotypicFeature	Abnormality of olfactory lobe morphology	A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.		hp.json		http://purl.obolibrary.org/obo/HP_0025057							
HP:0025058	biolink:PhenotypicFeature	Hypothalamic atrophy	Partial or complete wasting (loss) of hypothalamus tissue that was once present.		hp.json	Atrophy of the hypothalamus	http://purl.obolibrary.org/obo/HP_0025058							
HP:0025059	biolink:PhenotypicFeature	Splenic abscess	A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.		hp.json		http://purl.obolibrary.org/obo/HP_0025059							
HP:0025060	biolink:PhenotypicFeature	Multifocal splenic abscess	Multiple abscess lesions in the spleen.		hp.json	Multilocular splenic abscess	http://purl.obolibrary.org/obo/HP_0025060							
HP:0025061	biolink:PhenotypicFeature	Unifocal splenic abscess	Single (solitary) abscess in the spleen.		hp.json	Solitary splenic abscess|Unilocular splenic abscess	http://purl.obolibrary.org/obo/HP_0025061							
HP:0025062	biolink:PhenotypicFeature	Geophagia	The practice of eating earth or soil-like substrates such as clay or chalk.		hp.json	Geophagy	http://purl.obolibrary.org/obo/HP_0025062							
HP:0025063	biolink:PhenotypicFeature	Scaphoid abdomen	The anterior abdominal wall is sunken and presents a concave rather than a convex contour.		hp.json		http://purl.obolibrary.org/obo/HP_0025063							
HP:0025064	biolink:PhenotypicFeature	Thalamic hemorrhage	Bleeding in the thalamus.		hp.json	Thalamic haemorrhage	http://purl.obolibrary.org/obo/HP_0025064							
HP:0025065	biolink:PhenotypicFeature	Abnormal mean corpuscular volume	A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.		hp.json	Abnormal MCV|Abnormal erythrocyte volume	http://purl.obolibrary.org/obo/HP_0025065							
HP:0025066	biolink:PhenotypicFeature	Decreased mean corpuscular volume	A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).		hp.json	Decreased MCV|Microcytosis|Reduced erythrocyte volume	http://purl.obolibrary.org/obo/HP_0025066							
HP:0025068	biolink:PhenotypicFeature	Incomitant strabismus	Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.		hp.json		http://purl.obolibrary.org/obo/HP_0025068							
HP:0025069	biolink:PhenotypicFeature	Concomitant strabismus	Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.		hp.json	Comitant strabismus	http://purl.obolibrary.org/obo/HP_0025069							
HP:0025070	biolink:PhenotypicFeature	Abnormal U wave	An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.		hp.json		http://purl.obolibrary.org/obo/HP_0025070							
HP:0025071	biolink:PhenotypicFeature	U wave inversion	Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.		hp.json		http://purl.obolibrary.org/obo/HP_0025071							
HP:0025072	biolink:PhenotypicFeature	Prominent U wave	Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.		hp.json	Increased U wave amplitude	http://purl.obolibrary.org/obo/HP_0025072							
HP:0025073	biolink:PhenotypicFeature	Exercise-induced U wave inversion	U wave inversion that is induced by exercise stress testing.		hp.json		http://purl.obolibrary.org/obo/HP_0025073							
HP:0025074	biolink:PhenotypicFeature	Abnormal QRS complex	An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.		hp.json		http://purl.obolibrary.org/obo/HP_0025074							
HP:0025075	biolink:PhenotypicFeature	Increased QRS voltage	Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).		hp.json		http://purl.obolibrary.org/obo/HP_0025075							
HP:0025076	biolink:PhenotypicFeature	Abnormal QRS voltage	Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).		hp.json		http://purl.obolibrary.org/obo/HP_0025076							
HP:0025077	biolink:PhenotypicFeature	Decreased QRS voltage	Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.		hp.json		http://purl.obolibrary.org/obo/HP_0025077							
HP:0025078	biolink:PhenotypicFeature	Electrical alternans	The QRS complexes of the electrocardiogram alternate in height.		hp.json		http://purl.obolibrary.org/obo/HP_0025078							
HP:0025079	biolink:PhenotypicFeature	Pancreatic abscess	A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.		hp.json	Pancreas abscess	http://purl.obolibrary.org/obo/HP_0025079							
HP:0025080	biolink:PhenotypicFeature	Orthokeratotic hyperkeratosis	A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.		hp.json		http://purl.obolibrary.org/obo/HP_0025080							
HP:0025081	biolink:PhenotypicFeature	Darier's sign	A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.		hp.json		http://purl.obolibrary.org/obo/HP_0025081							
HP:0025082	biolink:PhenotypicFeature	Abnormal cutaneous elastic fiber morphology	Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.		hp.json	Abnormal cutaneous elastic fibre morphology	http://purl.obolibrary.org/obo/HP_0025082							
HP:0025083	biolink:PhenotypicFeature	Elevated dermal desmosine content	An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.		hp.json		http://purl.obolibrary.org/obo/HP_0025083							
HP:0025084	biolink:PhenotypicFeature	Folliculitis	Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.		hp.json	Follicular pustule	http://purl.obolibrary.org/obo/HP_0025084							
HP:0025085	biolink:PhenotypicFeature	Bloody diarrhea	Passage of many stools containing blood.		hp.json	Blood in stool|Bloody stool|Bloody bowel movement|Bloody diarrhea|Bloody diarrhoea	http://purl.obolibrary.org/obo/HP_0025085							
HP:0025086	biolink:PhenotypicFeature	Bloody mucoid diarrhea	Passage of many stools containing blood and mucus.		hp.json	Bloody mucoid diarrhoea	http://purl.obolibrary.org/obo/HP_0025086							
HP:0025087	biolink:PhenotypicFeature	Delayed recoil upon stretching of skin	Area of skin requiring an increased amount of time to return to its original shape after being stretched.		hp.json		http://purl.obolibrary.org/obo/HP_0025087							
HP:0025088	biolink:PhenotypicFeature	Onychomadesis	Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.		hp.json		http://purl.obolibrary.org/obo/HP_0025088							
HP:0025089	biolink:PhenotypicFeature	Feculent vomiting	Vomiting of material that is of fecal origin.		hp.json	Faecal vomiting|Vomiting faecal matter|Fecal vomiting|Stercoraceous vomiting|Vomiting fecal matter	http://purl.obolibrary.org/obo/HP_0025089							
HP:0025090	biolink:PhenotypicFeature	Abnormal large intestinal mucosa morphology	A structural anomaly of the mucous lining of the large intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0025090							
HP:0025092	biolink:PhenotypicFeature	Epidermal acanthosis	Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).		hp.json	Thickening of upper layer of skin|Acanthosis|Acanthotic epidermis	http://purl.obolibrary.org/obo/HP_0025092							
HP:0025093	biolink:PhenotypicFeature	Peripapillary exudate	A retinal exudate in the area surrounding the optic nerve head.		hp.json	Peripapillary exudation	http://purl.obolibrary.org/obo/HP_0025093							
HP:0025094	biolink:PhenotypicFeature	Disciform macular scar	A subretinal scar with a disc-like shape in the region of the macula.		hp.json		http://purl.obolibrary.org/obo/HP_0025094							
HP:0025095	biolink:PhenotypicFeature	Sneeze	A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.		hp.json		http://purl.obolibrary.org/obo/HP_0025095							
HP:0025096	biolink:PhenotypicFeature	Paroxysmal sneezing	Unprovoked explosive pathological sneezing.		hp.json		http://purl.obolibrary.org/obo/HP_0025096							
HP:0025097	biolink:PhenotypicFeature	Eyelid myoclonus	Marked, involuntary jerking of the eyelids.		hp.json	Blepharoclonus|Eyelid myoclonia	http://purl.obolibrary.org/obo/HP_0025097							
HP:0025098	biolink:PhenotypicFeature	Dysgenesis of the hypothalamus	Structural abnormality of the hypothalamus related to defective development.		hp.json	Hypothalamic dysgenesis	http://purl.obolibrary.org/obo/HP_0025098							
HP:0025099	biolink:PhenotypicFeature	Dysgenesis of the thalamus	Structural abnormality of the thalamus related to defective development.		hp.json	Thalamic dysgenesis	http://purl.obolibrary.org/obo/HP_0025099							
HP:0025100	biolink:PhenotypicFeature	Abnormal hippocampus morphology	Any structural anomaly of the hippocampus,		hp.json	Abnormal morphology of the hippocampus|Abnormality of hippocampus morphology	http://purl.obolibrary.org/obo/HP_0025100							
HP:0025101	biolink:PhenotypicFeature	Dysgenesis of the hippocampus	Structural abnormality of the hippocampus related to defective development.		hp.json	Hippocampal dysgenesis	http://purl.obolibrary.org/obo/HP_0025101							
HP:0025102	biolink:PhenotypicFeature	Dysgenesis of the basal ganglia	Structural abnormality of the basal ganglia related to defective development.		hp.json	Basal ganglia dysgenesis	http://purl.obolibrary.org/obo/HP_0025102							
HP:0025103	biolink:PhenotypicFeature	Umbilicated nodule	A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).		hp.json		http://purl.obolibrary.org/obo/HP_0025103							
HP:0025104	biolink:PhenotypicFeature	Capillary malformation	A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).		hp.json		http://purl.obolibrary.org/obo/HP_0025104							
HP:0025105	biolink:PhenotypicFeature	Nevus anemicus	A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.		hp.json	Naevus anaemicus	http://purl.obolibrary.org/obo/HP_0025105							
HP:0025106	biolink:PhenotypicFeature	Nevus roseus	A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.		hp.json		http://purl.obolibrary.org/obo/HP_0025106							
HP:0025107	biolink:PhenotypicFeature	Cutis marmorata telangiectatica congenita	A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.		hp.json		http://purl.obolibrary.org/obo/HP_0025107							
HP:0025108	biolink:PhenotypicFeature	Angioma serpentinum	Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.		hp.json		http://purl.obolibrary.org/obo/HP_0025108							
HP:0025109	biolink:PhenotypicFeature	Reduced red cell pyruvate kinase level	Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.		hp.json	Reduced erythrocyte pyruvate kinase activity	http://purl.obolibrary.org/obo/HP_0025109							
HP:0025110	biolink:PhenotypicFeature	Placoid macular lesion	Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.		hp.json		http://purl.obolibrary.org/obo/HP_0025110							
HP:0025112	biolink:PhenotypicFeature	Sound sensitivity	Decreased tolerance to sound.		hp.json	Noise sensitivity	http://purl.obolibrary.org/obo/HP_0025112							
HP:0025113	biolink:PhenotypicFeature	Misophonia	An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.		hp.json		http://purl.obolibrary.org/obo/HP_0025113							
HP:0025114	biolink:PhenotypicFeature	Hypergranulosis	Hypergranulosis is an increased thickness of the stratum granulosum.		hp.json		http://purl.obolibrary.org/obo/HP_0025114							
HP:0025115	biolink:PhenotypicFeature	Civatte bodies	Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant		hp.json	Colloid bodies|Colloid bodies of Civatte|Cytoid bodies|Hyaline bodies	http://purl.obolibrary.org/obo/HP_0025115							
HP:0025116	biolink:PhenotypicFeature	Fetal distress	An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.		hp.json	Foetal distress	http://purl.obolibrary.org/obo/HP_0025116							
HP:0025117	biolink:PhenotypicFeature	Rete ridge flattening	Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.		hp.json	Flattened rete pegs|Flattened rete ridges	http://purl.obolibrary.org/obo/HP_0025117							
HP:0025118	biolink:PhenotypicFeature	Lip discoloration	Lightening or darkening of the lips from their usual coloring.		hp.json		http://purl.obolibrary.org/obo/HP_0025118							
HP:0025119	biolink:PhenotypicFeature	Violet lip discoloration	An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.		hp.json		http://purl.obolibrary.org/obo/HP_0025119							
HP:0025121	biolink:PhenotypicFeature	obsolete Simple partial occipital seizures			hp.json		http://purl.obolibrary.org/obo/HP_0025121							
HP:0025122	biolink:PhenotypicFeature	Sawtooth acanthosis	A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.		hp.json	Sawtoothed acanthosis	http://purl.obolibrary.org/obo/HP_0025122							
HP:0025123	biolink:PhenotypicFeature	White streaks/specks on enamel.	Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.		hp.json		http://purl.obolibrary.org/obo/HP_0025123							
HP:0025124	biolink:PhenotypicFeature	Fragile teeth	A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.		hp.json	Enamel with tendency to chip|Spontaneous tooth fracture	http://purl.obolibrary.org/obo/HP_0025124							
HP:0025125	biolink:PhenotypicFeature	White lesion of the oral mucosa	White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.		hp.json		http://purl.obolibrary.org/obo/HP_0025125							
HP:0025126	biolink:PhenotypicFeature	Oral hairy leukoplakia	A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.		hp.json		http://purl.obolibrary.org/obo/HP_0025126							
HP:0025127	biolink:PhenotypicFeature	Actinic keratosis	A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.		hp.json	Solar keratosis	http://purl.obolibrary.org/obo/HP_0025127							
HP:0025128	biolink:PhenotypicFeature	Reduced intraabdominal adipose tissue	An abnormally reduced amount of adipose tissue in the abdominal cavity.		hp.json		http://purl.obolibrary.org/obo/HP_0025128							
HP:0025129	biolink:PhenotypicFeature	Abnormal small intestinal mucosa morphology	A structural anomaly of the mucous lining of the small intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0025129							
HP:0025130	biolink:PhenotypicFeature	Decreased small intestinal mucosa lactase level	Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.		hp.json	Lactase deficiency	http://purl.obolibrary.org/obo/HP_0025130							
HP:0025131	biolink:PhenotypicFeature	Finger swelling	Enlargement of the soft tissues of one or more fingers.		hp.json	Swelling of fingers|Swollen finger|Swollen fingers	http://purl.obolibrary.org/obo/HP_0025131							
HP:0025132	biolink:PhenotypicFeature	Abnormal circulating estrogen level	A deviation from normal concentration of the hormone estrogen in the blood circulation.		hp.json	Abnormal oestrogen level|Abnormal circulating oestrogen level|Abnormal estrogen level	http://purl.obolibrary.org/obo/HP_0025132							
HP:0025133	biolink:PhenotypicFeature	Abnormal serum estradiol	A deviation from normal concentrations of estradiol in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025133							
HP:0025134	biolink:PhenotypicFeature	Increased serum estradiol	An elevation above normal limits of the concentration of estradiol in the circulation.		hp.json	Increased estradiol level|Increased serum oestradiol	http://purl.obolibrary.org/obo/HP_0025134							
HP:0025135	biolink:PhenotypicFeature	Abnormal serum estriol	A deviation from normal concentration of estriol in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025135							
HP:0025136	biolink:PhenotypicFeature	Increased serum estriol	An elevation above normal limits of estriol concentration in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025136							
HP:0025137	biolink:PhenotypicFeature	Decreased serum estriol	A reduction below normal limits of estriol in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025137							
HP:0025138	biolink:PhenotypicFeature	Abnormal serum estrone	A deviation from the normal concentration of circulating estrone.		hp.json		http://purl.obolibrary.org/obo/HP_0025138							
HP:0025139	biolink:PhenotypicFeature	Increased serum estrone	An elevation above normal limits of the concentration of estrone in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025139							
HP:0025140	biolink:PhenotypicFeature	Decreased serum estrone	A reduction below normal limits of the concentration of estrone in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025140							
HP:0025141	biolink:PhenotypicFeature	Gingival calcification	Ectopic deposition of calcium salts found in the gingiva.		hp.json	Gingival calcifications	http://purl.obolibrary.org/obo/HP_0025141							
HP:0025142	biolink:PhenotypicFeature	Constitutional symptom	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.		hp.json		http://purl.obolibrary.org/obo/HP_0025142							
HP:0025143	biolink:PhenotypicFeature	Chills	A sudden sensation of feeling cold.		hp.json	Chills	http://purl.obolibrary.org/obo/HP_0025143							
HP:0025144	biolink:PhenotypicFeature	Shivering	Involuntary contraction or twitching of the muscles.		hp.json	Shivering|Shuddering	http://purl.obolibrary.org/obo/HP_0025144							
HP:0025145	biolink:PhenotypicFeature	Rigors	Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.		hp.json	Rigours	http://purl.obolibrary.org/obo/HP_0025145							
HP:0025146	biolink:PhenotypicFeature	Foveal degeneration	Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.		hp.json		http://purl.obolibrary.org/obo/HP_0025146							
HP:0025147	biolink:PhenotypicFeature	Beaten bronze macular sheen	A shiny appearance of the macula, which is often called a beaten bronze appearance.		hp.json	Beaten metal macular appearance|Beaten-bronze macular appearance|Beaten-bronze macular sheen	http://purl.obolibrary.org/obo/HP_0025147							
HP:0025148	biolink:PhenotypicFeature	Dark choroid	A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).		hp.json		http://purl.obolibrary.org/obo/HP_0025148							
HP:0025149	biolink:PhenotypicFeature	Atrophic muscularis propria	Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.		hp.json	Autonomic visceral myopathy|Degenerative enteric myopathy	http://purl.obolibrary.org/obo/HP_0025149							
HP:0025150	biolink:PhenotypicFeature	Hypoganglionosis	Sparse and small myenteric ganglia		hp.json		http://purl.obolibrary.org/obo/HP_0025150							
HP:0025151	biolink:PhenotypicFeature	Ganglioneuromatosis	Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.		hp.json		http://purl.obolibrary.org/obo/HP_0025151							
HP:0025152	biolink:PhenotypicFeature	Poor visual behavior for age	Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.		hp.json	Abnormal visual behavior for age|Abnormal visual behaviour for age|Poor visual behaviour for age	http://purl.obolibrary.org/obo/HP_0025152							
HP:0025153	biolink:PhenotypicFeature	Transient	Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.		hp.json		http://purl.obolibrary.org/obo/HP_0025153							
HP:0025154	biolink:PhenotypicFeature	Portosystemic collateral veins	Presence of biliary veins that serve as a collateral channel to the systemic circulation		hp.json	Collateral biliary circulation|Collateral biliary veins	http://purl.obolibrary.org/obo/HP_0025154							
HP:0025155	biolink:PhenotypicFeature	Abnormality of hepatobiliary system physiology	A functional anomaly of the hepatobiliary system		hp.json		http://purl.obolibrary.org/obo/HP_0025155							
HP:0025156	biolink:PhenotypicFeature	Dependency on intravenous nutrition	Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.		hp.json	Dependency on IV nutrition	http://purl.obolibrary.org/obo/HP_0025156							
HP:0025157	biolink:PhenotypicFeature	Increased urinary sedoheptulose	An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.		hp.json		http://purl.obolibrary.org/obo/HP_0025157							
HP:0025158	biolink:PhenotypicFeature	Hyperautofluorescent retinal lesion	Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.		hp.json		http://purl.obolibrary.org/obo/HP_0025158							
HP:0025159	biolink:PhenotypicFeature	Hypoautofluorescent retinal lesion	Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.		hp.json	Hypo-autofluorescent retinal lesion	http://purl.obolibrary.org/obo/HP_0025159							
HP:0025160	biolink:PhenotypicFeature	Abnormal temper tantrums	A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual.		hp.json		http://purl.obolibrary.org/obo/HP_0025160							
HP:0025161	biolink:PhenotypicFeature	Frequent temper tantrums	Temper tantrums that occur more frequently than usual.		hp.json		http://purl.obolibrary.org/obo/HP_0025161							
HP:0025162	biolink:PhenotypicFeature	Severe temper tantrums	Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes.		hp.json		http://purl.obolibrary.org/obo/HP_0025162							
HP:0025163	biolink:PhenotypicFeature	Abnormality of optic chiasm morphology	A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.		hp.json		http://purl.obolibrary.org/obo/HP_0025163							
HP:0025164	biolink:PhenotypicFeature	Increased number of elastic fibers in the dermis	An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.		hp.json	Increased number of elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025164							
HP:0025165	biolink:PhenotypicFeature	Clumping of elastic fibers in the dermis	Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).		hp.json	Clumping of elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025165							
HP:0025166	biolink:PhenotypicFeature	Thickened elastic fibers in the dermis	An increase of the diameter of elastic fibers in the dermis.		hp.json	Thickened elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025166							
HP:0025167	biolink:PhenotypicFeature	Fragmented elastic fibers in the dermis	Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.		hp.json	Fragmented elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025167							
HP:0025168	biolink:PhenotypicFeature	Left ventricular diastolic dysfunction	Abnormal function of the left ventricule during left ventricular relaxation and filling.		hp.json		http://purl.obolibrary.org/obo/HP_0025168							
HP:0025169	biolink:PhenotypicFeature	Left ventricular systolic dysfunction	Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.		hp.json		http://purl.obolibrary.org/obo/HP_0025169							
HP:0025170	biolink:PhenotypicFeature	Neuronal/glioneuronal neoplasm of the central nervous system	A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.		hp.json	Neuronal/glioneuronal neoplasm of the CNS|Glioneuronal tumour|Neuronal and mixed neuronal-glial tumour|Glioneuronal tumor|Neuronal and mixed neuronal-glial tumor	http://purl.obolibrary.org/obo/HP_0025170							
HP:0025171	biolink:PhenotypicFeature	Rosette-forming glioneuronal tumor	A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the 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.json	Rosette-forming glioneuronal tumour of the fourth ventricle|Rosette-forming glioneuronal neoplasm|Rosette-forming glioneuronal tumour|Rosette-forming glioneuronal tumor of the fourth ventricle	http://purl.obolibrary.org/obo/HP_0025171							
HP:0025172	biolink:PhenotypicFeature	Smooth septal thickening on pulmonary HRCT	Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.		hp.json		http://purl.obolibrary.org/obo/HP_0025172							
HP:0025173	biolink:PhenotypicFeature	Nodular septal thickening on pulmonary HRCT	Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.		hp.json		http://purl.obolibrary.org/obo/HP_0025173							
HP:0025174	biolink:PhenotypicFeature	Irregular septal thickening on pulmonary HRCT	Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.		hp.json		http://purl.obolibrary.org/obo/HP_0025174							
HP:0025175	biolink:PhenotypicFeature	Honeycomb lung	Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.		hp.json	Honeycomb cysts|Honeycombing	http://purl.obolibrary.org/obo/HP_0025175							
HP:0025176	biolink:PhenotypicFeature	Intralobular interstitial thickening	A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.		hp.json		http://purl.obolibrary.org/obo/HP_0025176							
HP:0025177	biolink:PhenotypicFeature	Peribronchovascular interstitial thickening	Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.		hp.json		http://purl.obolibrary.org/obo/HP_0025177							
HP:0025178	biolink:PhenotypicFeature	Subpleural interstitial thickening	Increase in thickness of the subpleural interstitium.		hp.json	Subpleural scarring	http://purl.obolibrary.org/obo/HP_0025178							
HP:0025179	biolink:PhenotypicFeature	Ground-glass opacification	On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.		hp.json	Ground-glass opacification on pulmonary HRCT	http://purl.obolibrary.org/obo/HP_0025179							
HP:0025180	biolink:PhenotypicFeature	Centrilobular ground-glass opacification on pulmonary HRCT	A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.		hp.json	Centrilobular groundglass opacification|Centrilobular groundglass opacity	http://purl.obolibrary.org/obo/HP_0025180							
HP:0025181	biolink:PhenotypicFeature	Abdominal aseptic abscess	An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.		hp.json		http://purl.obolibrary.org/obo/HP_0025181							
HP:0025182	biolink:PhenotypicFeature	Localized area of pendulous skin	A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.		hp.json	Localised area of pendulous skin	http://purl.obolibrary.org/obo/HP_0025182							
HP:0025186	biolink:PhenotypicFeature	Marcus Gunn jaw winking synkinesis	Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.		hp.json	Marcus Gunn jaw-winking syndrome|Pterygoid-levator synkinesis|Trigemino-oculomotor synkinesis	http://purl.obolibrary.org/obo/HP_0025186							
HP:0025188	biolink:PhenotypicFeature	Retinal vasculitis	Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.		hp.json		http://purl.obolibrary.org/obo/HP_0025188							
HP:0025190	biolink:PhenotypicFeature	Bilateral tonic-clonic seizure with generalized onset	A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.		hp.json	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							
HP:0025191	biolink:PhenotypicFeature	obsolete Segmental myoclonic seizures			hp.json		http://purl.obolibrary.org/obo/HP_0025191							
HP:0025192	biolink:PhenotypicFeature	Subtentorial periventricular white matter hyperdensity	Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).		hp.json		http://purl.obolibrary.org/obo/HP_0025192							
HP:0025193	biolink:PhenotypicFeature	Posterolateral diaphragmatic hernia	A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.		hp.json	Bochdalek hernia	http://purl.obolibrary.org/obo/HP_0025193							
HP:0025194	biolink:PhenotypicFeature	Morgagni diaphragmatic hernia	An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.		hp.json	Morgagni hernia	http://purl.obolibrary.org/obo/HP_0025194							
HP:0025195	biolink:PhenotypicFeature	Central diaphragmatic hernia	A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.		hp.json	Central hernia	http://purl.obolibrary.org/obo/HP_0025195							
HP:0025196	biolink:PhenotypicFeature	Increased total iron binding capacity	An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.		hp.json		http://purl.obolibrary.org/obo/HP_0025196							
HP:0025197	biolink:PhenotypicFeature	Inclusion body fibromatosis	A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.		hp.json	Digital fibrous tumour of Reye|Digital fibrous tumor of Reye|Infantile digital fibroma|Infantile digital fibromatosis	http://purl.obolibrary.org/obo/HP_0025197							
HP:0025198	biolink:PhenotypicFeature	Inflammatory cap polyp	A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.		hp.json		http://purl.obolibrary.org/obo/HP_0025198							
HP:0025200	biolink:PhenotypicFeature	Muscle fiber actin filament accumulation	Accumulation in muscle cells of filaments composed of actin.		hp.json	Muscle fibre actin filament accumulation	http://purl.obolibrary.org/obo/HP_0025200							
HP:0025201	biolink:PhenotypicFeature	Abnormal circulating apolipoprotein concentration	A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.		hp.json	Abnormal apolipoprotein level	http://purl.obolibrary.org/obo/HP_0025201							
HP:0025202	biolink:PhenotypicFeature	Elevated circulating apolipoprotein A-IV concentration	An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.		hp.json	Elevated apolipoprotein A-IV level	http://purl.obolibrary.org/obo/HP_0025202							
HP:0025203	biolink:PhenotypicFeature	Caput medusae	Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.		hp.json	Palm tree sign	http://purl.obolibrary.org/obo/HP_0025203							
HP:0025204	biolink:PhenotypicFeature	Triggered by	A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0025204							
HP:0025205	biolink:PhenotypicFeature	Triggered by breast feeding	Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.		hp.json	Triggered by breastfeeding|Breastfeeding triggered symptoms	http://purl.obolibrary.org/obo/HP_0025205							
HP:0025206	biolink:PhenotypicFeature	Triggered by cold	Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.		hp.json	Triggered by cold temperature|Cold triggered symptoms	http://purl.obolibrary.org/obo/HP_0025206							
HP:0025207	biolink:PhenotypicFeature	Triggered by dehydration	Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.		hp.json	Triggered by dehydration|Dehydration triggered symptoms	http://purl.obolibrary.org/obo/HP_0025207							
HP:0025208	biolink:PhenotypicFeature	Triggered by carbohydrate ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.		hp.json	Triggered by carbohydrate ingestion|Carbohydrate ingestion triggered symptoms	http://purl.obolibrary.org/obo/HP_0025208							
HP:0025209	biolink:PhenotypicFeature	Triggered by fructose ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.		hp.json	Trigged by fruit sugar	http://purl.obolibrary.org/obo/HP_0025209							
HP:0025210	biolink:PhenotypicFeature	Triggered by glucose ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.		hp.json		http://purl.obolibrary.org/obo/HP_0025210							
HP:0025211	biolink:PhenotypicFeature	Triggered by ethanol ingestion	Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.		hp.json	Triggered by alcohol ingestion|Ethanol ingestion triggered symptoms	http://purl.obolibrary.org/obo/HP_0025211							
HP:0025212	biolink:PhenotypicFeature	Triggered by fasting	Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).		hp.json	Triggered by fasting|Fasting triggered attacks|Fasting triggered symptoms	http://purl.obolibrary.org/obo/HP_0025212							
HP:0025213	biolink:PhenotypicFeature	Triggered by galactose ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.		hp.json	Triggered by ingestion of lactose-containing milk	http://purl.obolibrary.org/obo/HP_0025213							
HP:0025214	biolink:PhenotypicFeature	Triggered by heat	Applies to a sign or symptom that is provoked or brought about by exposure to heat.		hp.json	Triggered by heat|Heat triggered symptoms	http://purl.obolibrary.org/obo/HP_0025214							
HP:0025215	biolink:PhenotypicFeature	Triggered by febrile illness	Applies to a sign or symptom that is provoked or brought about by febrile illness.		hp.json	Triggered by fever|Febrile illness triggered symptoms	http://purl.obolibrary.org/obo/HP_0025215							
HP:0025216	biolink:PhenotypicFeature	Triggered by heavy meal	Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.		hp.json	Triggered by overeating|Heavy meal triggered symptoms	http://purl.obolibrary.org/obo/HP_0025216							
HP:0025217	biolink:PhenotypicFeature	Triggered by high-fat diet	Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.		hp.json	Triggered by high-fat diet|High-fat diet triggered symptoms	http://purl.obolibrary.org/obo/HP_0025217							
HP:0025218	biolink:PhenotypicFeature	Triggered by hyperventilation	Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.		hp.json	Triggered by hyperventilation|Hyperventilation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025218							
HP:0025219	biolink:PhenotypicFeature	Triggered by vaccination	Applies to a sign or symptom that is provoked or brought about by a vaccination.		hp.json	Triggered by vaccination|Triggered by immunisation|Triggered by immunization|Vaccination triggered symptoms	http://purl.obolibrary.org/obo/HP_0025219							
HP:0025220	biolink:PhenotypicFeature	Triggered by menstruation	Applies to a sign or symptom that is provoked or brought about by menstruation in a female.		hp.json	Triggered by monthly period|Triggered by period|Menstruation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025220							
HP:0025221	biolink:PhenotypicFeature	Triggered by pregnancy	Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.		hp.json	Triggered by pregnancy|Pregnancy triggered symptoms	http://purl.obolibrary.org/obo/HP_0025221							
HP:0025222	biolink:PhenotypicFeature	Triggered by sleep deprivation	Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.		hp.json	Triggered by sleep deprivation|Sleep deprivation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025222							
HP:0025223	biolink:PhenotypicFeature	Triggered by smoking	Applies to a sign or symptom that is provoked or brought about by smoking.		hp.json	Triggered by cigarette consumption|Triggered by smoking|Triggered by tobacco use|Smoking triggered symptoms	http://purl.obolibrary.org/obo/HP_0025223							
HP:0025224	biolink:PhenotypicFeature	Triggered by sodium ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.		hp.json	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							
HP:0025225	biolink:PhenotypicFeature	Triggered by sound	Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.		hp.json	Triggered by sound|Sound triggered symptoms	http://purl.obolibrary.org/obo/HP_0025225							
HP:0025226	biolink:PhenotypicFeature	Triggered by stress	Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.		hp.json	Triggered by stress|Stress triggered symptoms	http://purl.obolibrary.org/obo/HP_0025226							
HP:0025227	biolink:PhenotypicFeature	Triggered by excitement	Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.		hp.json	Triggered by excitement|Excitement triggered symptoms|Triggered by startle	http://purl.obolibrary.org/obo/HP_0025227							
HP:0025228	biolink:PhenotypicFeature	Triggered by sudden movement	Applies to a sign or symptom that is provoked or brought about by a sudden movement.		hp.json	Triggered by sudden movement|Kinesigenic|Sudden movement triggered symptoms	http://purl.obolibrary.org/obo/HP_0025228							
HP:0025229	biolink:PhenotypicFeature	Triggered by vestibular stimulation	Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.		hp.json	Vestibular stimulation triggered attacks|Vestibular stimulation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025229							
HP:0025230	biolink:PhenotypicFeature	Tendonitis	Inflammation of a tendon.		hp.json	Teninitis	http://purl.obolibrary.org/obo/HP_0025230							
HP:0025231	biolink:PhenotypicFeature	Abnormality of synovial bursa morphology	A structural anomaly of a synovial bursa.		hp.json		http://purl.obolibrary.org/obo/HP_0025231							
HP:0025232	biolink:PhenotypicFeature	Bursitis	Inflammation of a synovial bursa.		hp.json		http://purl.obolibrary.org/obo/HP_0025232							
HP:0025233	biolink:PhenotypicFeature	Sleep paralysis	An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.		hp.json		http://purl.obolibrary.org/obo/HP_0025233							
HP:0025234	biolink:PhenotypicFeature	Parasomnia	An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep.		hp.json		http://purl.obolibrary.org/obo/HP_0025234							
HP:0025235	biolink:PhenotypicFeature	Non-rapid eye movement parasomnia	A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).		hp.json	NREM parasomnia	http://purl.obolibrary.org/obo/HP_0025235							
HP:0025236	biolink:PhenotypicFeature	Somnambulism	Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.		hp.json	Sleep walking	http://purl.obolibrary.org/obo/HP_0025236							
HP:0025237	biolink:PhenotypicFeature	Confusional arousal	A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.		hp.json		http://purl.obolibrary.org/obo/HP_0025237							
HP:0025238	biolink:PhenotypicFeature	Foot pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.		hp.json	Foot pain	http://purl.obolibrary.org/obo/HP_0025238							
HP:0025239	biolink:PhenotypicFeature	Subhyaloid hemorrhage	A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.		hp.json	Subhyaloid haemorrhage|Subhyaloid heme	http://purl.obolibrary.org/obo/HP_0025239							
HP:0025240	biolink:PhenotypicFeature	Preretinal hemorrhage	An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.		hp.json	Preretinal haemorrhage|Preretinal heme	http://purl.obolibrary.org/obo/HP_0025240							
HP:0025241	biolink:PhenotypicFeature	Flame-shaped retinal hemorrhage	A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).		hp.json	Flame-shaped retinal haemorrhage|Feathered retinal heme|Linear retina heme	http://purl.obolibrary.org/obo/HP_0025241							
HP:0025242	biolink:PhenotypicFeature	Dot-and-blot retinal hemorrhage	Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.		hp.json	Dot-and-blot retinal haemorrhage|Round retinal heme	http://purl.obolibrary.org/obo/HP_0025242							
HP:0025243	biolink:PhenotypicFeature	Subretinal hemorrhage	Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.		hp.json	Subretinal haemorrhage|Subretinal heme	http://purl.obolibrary.org/obo/HP_0025243							
HP:0025244	biolink:PhenotypicFeature	Subretinal pigment epithelium hemorrhage	An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.		hp.json	Subretinal pigment epithelium haemorrhage	http://purl.obolibrary.org/obo/HP_0025244							
HP:0025245	biolink:PhenotypicFeature	Cutaneous cyst	A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.		hp.json		http://purl.obolibrary.org/obo/HP_0025245							
HP:0025246	biolink:PhenotypicFeature	Trichilemmal cyst	Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.		hp.json	Pilar cyst	http://purl.obolibrary.org/obo/HP_0025246							
HP:0025247	biolink:PhenotypicFeature	Dermoid cyst	A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.		hp.json		http://purl.obolibrary.org/obo/HP_0025247							
HP:0025248	biolink:PhenotypicFeature	Eruptive vellus hair cyst	A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.		hp.json		http://purl.obolibrary.org/obo/HP_0025248							
HP:0025249	biolink:PhenotypicFeature	Comedo	A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).		hp.json		http://purl.obolibrary.org/obo/HP_0025249							
HP:0025250	biolink:PhenotypicFeature	Closed comedo	A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.		hp.json	Whitehead	http://purl.obolibrary.org/obo/HP_0025250							
HP:0025251	biolink:PhenotypicFeature	Open comedo	A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.		hp.json	Blackhead	http://purl.obolibrary.org/obo/HP_0025251							
HP:0025252	biolink:PhenotypicFeature	Geographic tongue	An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.		hp.json	Annulus migrans|Benign migratory glossitis|Glossitis areata exfoliativa|Lingual erythema migrans|Wandering rash of the tongue	http://purl.obolibrary.org/obo/HP_0025252							
HP:0025253	biolink:PhenotypicFeature	Claustrophobia	An abnormal fear of being in a closed or narrow space with no escape.		hp.json		http://purl.obolibrary.org/obo/HP_0025253							
HP:0025254	biolink:PhenotypicFeature	Ameliorated by	An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable		hp.json	Improved by	http://purl.obolibrary.org/obo/HP_0025254							
HP:0025255	biolink:PhenotypicFeature	Ameliorated by pregnancy	Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.		hp.json	Pregnancy relieves symptoms	http://purl.obolibrary.org/obo/HP_0025255							
HP:0025256	biolink:PhenotypicFeature	Ameliorated by heat	Applies to a sign or symptom that is improved or made more bearable by heat (including fever).		hp.json	Heat improves condition|Heat improves symptom|Fever improves condition	http://purl.obolibrary.org/obo/HP_0025256							
HP:0025257	biolink:PhenotypicFeature	Ameliorated by carbohydrate ingestion	Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).		hp.json		http://purl.obolibrary.org/obo/HP_0025257							
HP:0025258	biolink:PhenotypicFeature	Stiff neck	A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.		hp.json	Neck stiffness|Stiff neck	http://purl.obolibrary.org/obo/HP_0025258							
HP:0025259	biolink:PhenotypicFeature	Stiff elbow	A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.		hp.json	Elbow stiffness|Stiff elbow	http://purl.obolibrary.org/obo/HP_0025259							
HP:0025260	biolink:PhenotypicFeature	Stiff wrist	A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.		hp.json	Stiff wrist|Wrist stiffness	http://purl.obolibrary.org/obo/HP_0025260							
HP:0025261	biolink:PhenotypicFeature	Stiff finger	A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.		hp.json	Finger stiffness|Stiff finger	http://purl.obolibrary.org/obo/HP_0025261							
HP:0025262	biolink:PhenotypicFeature	Stiff hip	A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.		hp.json	Hip stiffness|Stiff hip	http://purl.obolibrary.org/obo/HP_0025262							
HP:0025263	biolink:PhenotypicFeature	Stiff knee	A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.		hp.json	Knee stiffness|Stiff knee	http://purl.obolibrary.org/obo/HP_0025263							
HP:0025264	biolink:PhenotypicFeature	Stiff ankle	A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.		hp.json	Ankle stiffness|Stiff ankle	http://purl.obolibrary.org/obo/HP_0025264							
HP:0025265	biolink:PhenotypicFeature	Stiff toe	A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.		hp.json	Stiff toe|Toe stiffness	http://purl.obolibrary.org/obo/HP_0025265							
HP:0025266	biolink:PhenotypicFeature	Cervical osteoarthritis	Degeneration (wear and tear) of the articular cartilage of the neck joints.		hp.json		http://purl.obolibrary.org/obo/HP_0025266							
HP:0025267	biolink:PhenotypicFeature	Snoring	Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.		hp.json	Snore|Snores|Snoring symptoms	http://purl.obolibrary.org/obo/HP_0025267							
HP:0025268	biolink:PhenotypicFeature	Stuttering	Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.		hp.json	Stammering|Stuttering	http://purl.obolibrary.org/obo/HP_0025268							
HP:0025269	biolink:PhenotypicFeature	Panic attack	A sudden episode of intense fear in a situation in which there is no danger or apparent cause.		hp.json	Panic attack	http://purl.obolibrary.org/obo/HP_0025269							
HP:0025270	biolink:PhenotypicFeature	Abnormality of esophagus physiology	Any physiological abnormality of the esophagus.		hp.json	Abnormality of oesophagus physiology|Functional abnormality of the oesophagus|Functional abnormality of the esophagus	http://purl.obolibrary.org/obo/HP_0025270							
HP:0025271	biolink:PhenotypicFeature	Esophageal spasms	Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.		hp.json		http://purl.obolibrary.org/obo/HP_0025271							
HP:0025272	biolink:PhenotypicFeature	Melasma	Symmetrical, blotchy, brownish facial pigmentation.		hp.json	Chloasma|Facial melanosis	http://purl.obolibrary.org/obo/HP_0025272							
HP:0025273	biolink:PhenotypicFeature	Achilles tendonitis	Inflammation of the Achilles tendon.		hp.json		http://purl.obolibrary.org/obo/HP_0025273							
HP:0025274	biolink:PhenotypicFeature	Ovarian dermoid cyst	An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.		hp.json	Mature cystic ovarian teratoma	http://purl.obolibrary.org/obo/HP_0025274							
HP:0025275	biolink:PhenotypicFeature	Lateral	Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.		hp.json		http://purl.obolibrary.org/obo/HP_0025275							
HP:0025276	biolink:PhenotypicFeature	Abnormality of skin adnexa physiology	Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.		hp.json		http://purl.obolibrary.org/obo/HP_0025276							
HP:0025277	biolink:PhenotypicFeature	Gustatory sweating	Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).		hp.json		http://purl.obolibrary.org/obo/HP_0025277							
HP:0025278	biolink:PhenotypicFeature	Cold-induced sweating	Sweating provoked by cold temperature rather than by heat.		hp.json		http://purl.obolibrary.org/obo/HP_0025278							
HP:0025279	biolink:PhenotypicFeature	Migratory			hp.json		http://purl.obolibrary.org/obo/HP_0025279							
HP:0025280	biolink:PhenotypicFeature	Pain characteristic	A pain characteristic is defined as a subjective category or type of pain.		hp.json		http://purl.obolibrary.org/obo/HP_0025280							
HP:0025281	biolink:PhenotypicFeature	Sharp	Applied to pain that is described as sharp, i.e., sudden and severe.		hp.json		http://purl.obolibrary.org/obo/HP_0025281							
HP:0025282	biolink:PhenotypicFeature	Dull	Applied to pain that is dull, i.e., not severe but that continues over a long period of time.		hp.json	Dull pain	http://purl.obolibrary.org/obo/HP_0025282							
HP:0025283	biolink:PhenotypicFeature	Tender	Applied to pain that is tender, i.e., elicited by touching the affected body part.		hp.json		http://purl.obolibrary.org/obo/HP_0025283							
HP:0025284	biolink:PhenotypicFeature	Sleep-interrupting	Applied to pain that wakes the affecting individual from sleep.		hp.json		http://purl.obolibrary.org/obo/HP_0025284							
HP:0025285	biolink:PhenotypicFeature	Aggravated by	An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.		hp.json	Exacerbated by	http://purl.obolibrary.org/obo/HP_0025285							
HP:0025286	biolink:PhenotypicFeature	Aggravated by activity	Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.		hp.json	Aggravated by exercise|Aggravated by exertion|Worse with activity|Worsened by activity	http://purl.obolibrary.org/obo/HP_0025286							
HP:0025287	biolink:PhenotypicFeature	Axial	Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.		hp.json		http://purl.obolibrary.org/obo/HP_0025287							
HP:0025289	biolink:PhenotypicFeature	Cervical lymphadenopathy	Enlarged lymph nodes in the neck.		hp.json	Swollen lymph nodes in the neck	http://purl.obolibrary.org/obo/HP_0025289							
HP:0025290	biolink:PhenotypicFeature	Upper-body predominance	Applies to an abnormality that affects the arms, trunk, head more than the legs.		hp.json		http://purl.obolibrary.org/obo/HP_0025290							
HP:0025291	biolink:PhenotypicFeature	Lower-body predominance	Applies to an abnormality that affects the legs more than the arms, trunk, head.		hp.json		http://purl.obolibrary.org/obo/HP_0025291							
HP:0025292	biolink:PhenotypicFeature	Acral	Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).		hp.json		http://purl.obolibrary.org/obo/HP_0025292							
HP:0025293	biolink:PhenotypicFeature	Distributed along Blaschko lines	Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.		hp.json		http://purl.obolibrary.org/obo/HP_0025293							
HP:0025294	biolink:PhenotypicFeature	Dermatomal	Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.		hp.json	Radicular	http://purl.obolibrary.org/obo/HP_0025294							
HP:0025295	biolink:PhenotypicFeature	Herpetiform	Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.		hp.json		http://purl.obolibrary.org/obo/HP_0025295							
HP:0025296	biolink:PhenotypicFeature	Morbilliform	Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.		hp.json		http://purl.obolibrary.org/obo/HP_0025296							
HP:0025297	biolink:PhenotypicFeature	Prolonged	Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).		hp.json		http://purl.obolibrary.org/obo/HP_0025297							
HP:0025300	biolink:PhenotypicFeature	Malar rash	An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.		hp.json	Butterfly rash|Cheekbone rash	http://purl.obolibrary.org/obo/HP_0025300							
HP:0025301	biolink:PhenotypicFeature	Nocturnal	Applies to an abnormality that occurs in or is exacerbated during the night.		hp.json		http://purl.obolibrary.org/obo/HP_0025301							
HP:0025302	biolink:PhenotypicFeature	Diurnal	Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.		hp.json		http://purl.obolibrary.org/obo/HP_0025302							
HP:0025303	biolink:PhenotypicFeature	Episodic	Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.		hp.json	Now and then	http://purl.obolibrary.org/obo/HP_0025303							
HP:0025304	biolink:PhenotypicFeature	Periodic	Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.		hp.json	Cyclic|Cyclical	http://purl.obolibrary.org/obo/HP_0025304							
HP:0025305	biolink:PhenotypicFeature	Quotidian	Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).		hp.json		http://purl.obolibrary.org/obo/HP_0025305							
HP:0025306	biolink:PhenotypicFeature	Acute emergence over minutes	Acute appearance of disease manifestations in a period of minutes.		hp.json		http://purl.obolibrary.org/obo/HP_0025306							
HP:0025307	biolink:PhenotypicFeature	Acute emergence over hours	Acute appearance of disease manifestations in a period of hours.		hp.json		http://purl.obolibrary.org/obo/HP_0025307							
HP:0025308	biolink:PhenotypicFeature	Acute emergence over days	Acute appearance of disease manifestations in a period of days.		hp.json		http://purl.obolibrary.org/obo/HP_0025308							
HP:0025309	biolink:PhenotypicFeature	Abnormal pupil shape	A deviation from the normal circular shape of the pupil		hp.json	Irregular pupil	http://purl.obolibrary.org/obo/HP_0025309							
HP:0025310	biolink:PhenotypicFeature	Oval pupil	An abnormal pupil shape that is elliptical, i.e., egg-like.		hp.json		http://purl.obolibrary.org/obo/HP_0025310							
HP:0025311	biolink:PhenotypicFeature	Anterior chamber cyst	A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.		hp.json		http://purl.obolibrary.org/obo/HP_0025311							
HP:0025312	biolink:PhenotypicFeature	Esophoria	A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.		hp.json		http://purl.obolibrary.org/obo/HP_0025312							
HP:0025313	biolink:PhenotypicFeature	Exophoria	A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.		hp.json		http://purl.obolibrary.org/obo/HP_0025313							
HP:0025314	biolink:PhenotypicFeature	Choroidal nevus	A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.		hp.json		http://purl.obolibrary.org/obo/HP_0025314							
HP:0025315	biolink:PhenotypicFeature	Exacerbated by head trauma	Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.		hp.json		http://purl.obolibrary.org/obo/HP_0025315							
HP:0025317	biolink:PhenotypicFeature	Cubitus varus	A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0025317							
HP:0025318	biolink:PhenotypicFeature	Ovarian carcinoma	A malignant neoplasm originating from the surface ovarian epithelium.	NCIT:C4908	hp.json	Ovarian epithelial cancer	http://purl.obolibrary.org/obo/HP_0025318							
HP:0025319	biolink:PhenotypicFeature	Rubeosis iridis	Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.		hp.json		http://purl.obolibrary.org/obo/HP_0025319							
HP:0025320	biolink:PhenotypicFeature	Leakage of dye on fundus fluorescein angiography	Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.		hp.json	Fluorescein leakage	http://purl.obolibrary.org/obo/HP_0025320							
HP:0025321	biolink:PhenotypicFeature	Copper accumulation in liver	An anomalous build up of copper (Cu) in the liver.		hp.json	Liver copper accumulation	http://purl.obolibrary.org/obo/HP_0025321							
HP:0025322	biolink:PhenotypicFeature	Venous occlusion	Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.		hp.json		http://purl.obolibrary.org/obo/HP_0025322							
HP:0025323	biolink:PhenotypicFeature	Abnormal arterial physiology	An anomaly of arterial function.		hp.json		http://purl.obolibrary.org/obo/HP_0025323							
HP:0025324	biolink:PhenotypicFeature	Arterial occlusion	Blockage of blood flow through an artery.		hp.json		http://purl.obolibrary.org/obo/HP_0025324							
HP:0025325	biolink:PhenotypicFeature	Sparse medial eyebrow	Decreased density/number and/or decreased diameter of medial eyebrow hairs.		hp.json	Medial thinning of eyebrow	http://purl.obolibrary.org/obo/HP_0025325							
HP:0025326	biolink:PhenotypicFeature	Retinal arterial occlusion	Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.		hp.json	Retinal artery occlusion	http://purl.obolibrary.org/obo/HP_0025326							
HP:0025327	biolink:PhenotypicFeature	Decreased renal parenchymal thickness	Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.		hp.json		http://purl.obolibrary.org/obo/HP_0025327							
HP:0025328	biolink:PhenotypicFeature	Antepartum hemorrhage	Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.		hp.json	Antepartum haemorrhage|Prepartum haemorrhage|Prepartum hemorrhage	http://purl.obolibrary.org/obo/HP_0025328							
HP:0025329	biolink:PhenotypicFeature	Anti-glutamic acid decarboxylase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.		hp.json	Anti-GAD antibody positivity	http://purl.obolibrary.org/obo/HP_0025329							
HP:0025330	biolink:PhenotypicFeature	Downgaze palsy	A limitation of the ability to direct one's gaze below the horizontal meridian.		hp.json	Downgaze paresis|Supranuclear downgaze palsy	http://purl.obolibrary.org/obo/HP_0025330							
HP:0025331	biolink:PhenotypicFeature	Upgaze palsy	A limitation of the ability to direct one's gaze above the horizontal meridian.		hp.json	Supranuclear upgaze palsy|Upgaze paresis	http://purl.obolibrary.org/obo/HP_0025331							
HP:0025332	biolink:PhenotypicFeature	Abnormality of foot cortical bone	An anomaly of the outer shell (cortex) of a foot bone.		hp.json	Abnormality of the cortex of foot bones	http://purl.obolibrary.org/obo/HP_0025332							
HP:0025333	biolink:PhenotypicFeature	Cortical thinning of foot bones	A reduction in the thickness of the outer shell (cortex) of foot bones.		hp.json		http://purl.obolibrary.org/obo/HP_0025333							
HP:0025334	biolink:PhenotypicFeature	Triggered by emotion	Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).		hp.json	Emotion triggered symptoms	http://purl.obolibrary.org/obo/HP_0025334							
HP:0025335	biolink:PhenotypicFeature	Delayed ability to stand	A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.		hp.json		http://purl.obolibrary.org/obo/HP_0025335							
HP:0025336	biolink:PhenotypicFeature	Delayed ability to sit	A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.		hp.json		http://purl.obolibrary.org/obo/HP_0025336							
HP:0025337	biolink:PhenotypicFeature	Red eye	A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.		hp.json	Red eye|Red eyes	http://purl.obolibrary.org/obo/HP_0025337							
HP:0025338	biolink:PhenotypicFeature	Circumlimbal hyperemia	A ring of redness at the limbus of the eye, the border between the cornea and the sclera.		hp.json	Circumlimbal hyperaemia|Ciliary limbus	http://purl.obolibrary.org/obo/HP_0025338							
HP:0025339	biolink:PhenotypicFeature	Superficial episcleral hyperemia	Prominence of blood vessels of the superficial episcleral tissues.		hp.json	Superficial episcleral hypaeremia	http://purl.obolibrary.org/obo/HP_0025339							
HP:0025340	biolink:PhenotypicFeature	Deep episcleral hyperemia	Prominence of blood vessels of the deep episcleral tissues.		hp.json	Deep episcleral hyperaemia	http://purl.obolibrary.org/obo/HP_0025340							
HP:0025341	biolink:PhenotypicFeature	Corneal keratic precipitates	An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.		hp.json		http://purl.obolibrary.org/obo/HP_0025341							
HP:0025342	biolink:PhenotypicFeature	Central retinal artery occlusion	Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.		hp.json		http://purl.obolibrary.org/obo/HP_0025342							
HP:0025343	biolink:PhenotypicFeature	Lupus anticoagulant	Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.		hp.json		http://purl.obolibrary.org/obo/HP_0025343							
HP:0025344	biolink:PhenotypicFeature	Interlobular bile duct destruction	Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).		hp.json		http://purl.obolibrary.org/obo/HP_0025344							
HP:0025345	biolink:PhenotypicFeature	Abnormality of circulating beta-2-microglobulin level	A deviation from the normal concentration of beta-2-microglobulin in the blood.		hp.json	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							
HP:0025346	biolink:PhenotypicFeature	Increased circulating beta-2-microglobulin level	Elevated concentration of beta-2-microglobulin in the blood.		hp.json	Elevated circulating beta-2-microglobulin level	http://purl.obolibrary.org/obo/HP_0025346							
HP:0025347	biolink:PhenotypicFeature	Decreased circulating beta-2-microglobulin level	Reduced concentration of beta-2-microglobulin in the blood.		hp.json	Reduced circulating beta-2-microglobulin level	http://purl.obolibrary.org/obo/HP_0025347							
HP:0025348	biolink:PhenotypicFeature	Abnormality of the corneal limbus	An anomaly of the margin of the cornea overlapped by the sclera.		hp.json		http://purl.obolibrary.org/obo/HP_0025348							
HP:0025349	biolink:PhenotypicFeature	Limbal edema	Swelling of the margin of the cornea overlapped by the sclera.		hp.json	Limbal oedema	http://purl.obolibrary.org/obo/HP_0025349							
HP:0025350	biolink:PhenotypicFeature	Giant conjunctival papillae	Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.		hp.json		http://purl.obolibrary.org/obo/HP_0025350							
HP:0025351	biolink:PhenotypicFeature	Recurrent interdigital mycosis	A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.		hp.json	Recurrent interdigital tinea	http://purl.obolibrary.org/obo/HP_0025351							
HP:0025352	biolink:PhenotypicFeature	Autosomal dominant germline de novo mutation	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.json		http://purl.obolibrary.org/obo/HP_0025352							
HP:0025353	biolink:PhenotypicFeature	Anti-multiple nuclear dots antibody positivity	A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.		hp.json	Anti-MND antibodies|Anti-sp100 antibody positivity	http://purl.obolibrary.org/obo/HP_0025353							
HP:0025354	biolink:PhenotypicFeature	Abnormal cellular phenotype	An anomaly of cellular morphology or physiology.		hp.json		http://purl.obolibrary.org/obo/HP_0025354							
HP:0025355	biolink:PhenotypicFeature	Retinal arterial macroaneurysms	Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.		hp.json		http://purl.obolibrary.org/obo/HP_0025355							
HP:0025356	biolink:PhenotypicFeature	Psychomotor retardation			hp.json	Motormental retardation|Psychomotor impairment|Psychomotor slowing	http://purl.obolibrary.org/obo/HP_0025356							
HP:0025357	biolink:PhenotypicFeature	Erratic myoclonus	A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.		hp.json	Fragmentary myoclonus	http://purl.obolibrary.org/obo/HP_0025357							
HP:0025358	biolink:PhenotypicFeature	Uveal ectropion	Presence of iris pigment epithelium on the anterior surface of the iris.		hp.json	Ectropion uveae	http://purl.obolibrary.org/obo/HP_0025358							
HP:0025359	biolink:PhenotypicFeature	Polygonal renal calices	An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).		hp.json	Polygonal calices|Polygonal-shaped calices	http://purl.obolibrary.org/obo/HP_0025359							
HP:0025360	biolink:PhenotypicFeature	Polycalycosis	Increased number of calices of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0025360							
HP:0025361	biolink:PhenotypicFeature	Abnormality of medullary pyramid morphology	A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.		hp.json		http://purl.obolibrary.org/obo/HP_0025361							
HP:0025362	biolink:PhenotypicFeature	Renal medullary pyramid hypoplasia	Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.		hp.json	Hypoplasia of the medullary pyramids	http://purl.obolibrary.org/obo/HP_0025362							
HP:0025363	biolink:PhenotypicFeature	Glomerular endocapillary hypercellularity	Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.		hp.json	Endocapillary hypercellularity	http://purl.obolibrary.org/obo/HP_0025363							
HP:0025364	biolink:PhenotypicFeature	Glomerular extracapillary hypercellularity	Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.		hp.json	Extracapillary glomerular hypercellularity|Extracapillary hypercellularity	http://purl.obolibrary.org/obo/HP_0025364							
HP:0025367	biolink:PhenotypicFeature	Trichoepithelioma	A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.		hp.json		http://purl.obolibrary.org/obo/HP_0025367							
HP:0025368	biolink:PhenotypicFeature	Abnormality of growth plate morphology	A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).		hp.json		http://purl.obolibrary.org/obo/HP_0025368							
HP:0025369	biolink:PhenotypicFeature	Thick growth plates	Increased thickness (dimension along the axis of the bone) of the growth plate.		hp.json		http://purl.obolibrary.org/obo/HP_0025369							
HP:0025370	biolink:PhenotypicFeature	Abnormal ossification of the sacrum	Abnormal bone tissue formation (ossification) affecting the sacrum.		hp.json		http://purl.obolibrary.org/obo/HP_0025370							
HP:0025371	biolink:PhenotypicFeature	Delayed ossification of the sacrum	Formation of the sacrum bone tissue occurs later than age-adjusted norms.		hp.json		http://purl.obolibrary.org/obo/HP_0025371							
HP:0025372	biolink:PhenotypicFeature	Loud snoring	Particularly loud snoring, snoring at high volume.		hp.json	Has loud snoring|Have loud snoring|Heavy snoring|Snores loudly	http://purl.obolibrary.org/obo/HP_0025372							
HP:0025373	biolink:PhenotypicFeature	Interictal EEG abnormality	Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.		hp.json		http://purl.obolibrary.org/obo/HP_0025373							
HP:0025374	biolink:PhenotypicFeature	Duplicated odontoid process	The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.		hp.json		http://purl.obolibrary.org/obo/HP_0025374							
HP:0025375	biolink:PhenotypicFeature	Orthotopic os odontoideum	Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.		hp.json		http://purl.obolibrary.org/obo/HP_0025375							
HP:0025376	biolink:PhenotypicFeature	Hyperglutaminuria	An increased concentration of glutamine in the urine.		hp.json	Glutaminuria	http://purl.obolibrary.org/obo/HP_0025376							
HP:0025377	biolink:PhenotypicFeature	Triggered by exertion	Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.		hp.json	Exertion triggered symptoms|Triggered by physical exercise	http://purl.obolibrary.org/obo/HP_0025377							
HP:0025379	biolink:PhenotypicFeature	Anti-thyroid peroxidase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.		hp.json		http://purl.obolibrary.org/obo/HP_0025379							
HP:0025380	biolink:PhenotypicFeature	Increased circulating androstenedione concentration	Increased concentration of androstenedione in the blood circulation.		hp.json	Increased serum androstenedione	http://purl.obolibrary.org/obo/HP_0025380							
HP:0025381	biolink:PhenotypicFeature	Anti-pituitary antibody positivity	Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.		hp.json		http://purl.obolibrary.org/obo/HP_0025381							
HP:0025382	biolink:PhenotypicFeature	Hypodipsia	Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.		hp.json		http://purl.obolibrary.org/obo/HP_0025382							
HP:0025383	biolink:PhenotypicFeature	Dorsocervical fat pad	An area of fat accumulation at the back of the neck in the form of a hump.		hp.json	Buffalo hump	http://purl.obolibrary.org/obo/HP_0025383							
HP:0025384	biolink:PhenotypicFeature	Diet-resistant subcutaneous adipose tissue	Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.		hp.json		http://purl.obolibrary.org/obo/HP_0025384							
HP:0025385	biolink:PhenotypicFeature	Diet-resistant subcutaneous adipose tissue below waist	Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.		hp.json		http://purl.obolibrary.org/obo/HP_0025385							
HP:0025386	biolink:PhenotypicFeature	Bitemporal hollowing	Depression of profile in both temporal regions.		hp.json		http://purl.obolibrary.org/obo/HP_0025386							
HP:0025387	biolink:PhenotypicFeature	Pill-rolling tremor	A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.		hp.json	Pill rolling	http://purl.obolibrary.org/obo/HP_0025387							
HP:0025388	biolink:PhenotypicFeature	Thyroid nodule	A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.		hp.json		http://purl.obolibrary.org/obo/HP_0025388							
HP:0025389	biolink:PhenotypicFeature	Pulmonary interstitial high-resolution computed tomography abnormality	High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.		hp.json	Pulmonary interstitiatial HRCT abnormality	http://purl.obolibrary.org/obo/HP_0025389							
HP:0025390	biolink:PhenotypicFeature	Reticular pattern on pulmonary HRCT	On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.		hp.json		http://purl.obolibrary.org/obo/HP_0025390							
HP:0025391	biolink:PhenotypicFeature	Crazy paving pattern	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.json	Crazy paving pattern on pulmonary HRCT	http://purl.obolibrary.org/obo/HP_0025391							
HP:0025392	biolink:PhenotypicFeature	Nodular pattern on pulmonary HRCT	A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.		hp.json		http://purl.obolibrary.org/obo/HP_0025392							
HP:0025393	biolink:PhenotypicFeature	Reticulonodular pattern on pulmonary HRCT	Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.		hp.json		http://purl.obolibrary.org/obo/HP_0025393							
HP:0025394	biolink:PhenotypicFeature	Cystic pattern on pulmonary HRCT	On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.		hp.json		http://purl.obolibrary.org/obo/HP_0025394							
HP:0025395	biolink:PhenotypicFeature	Combined cystic and ground-glass pattern on pulmonary HRCT	Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,		hp.json		http://purl.obolibrary.org/obo/HP_0025395							
HP:0025396	biolink:PhenotypicFeature	Decreased attenuation pattern on pulmonary HRCT	Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.		hp.json	Black lung pattern on pulmonary HRCT	http://purl.obolibrary.org/obo/HP_0025396							
HP:0025397	biolink:PhenotypicFeature	Mosaic attenuation pattern on pulmonary HRCT	A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.		hp.json		http://purl.obolibrary.org/obo/HP_0025397							
HP:0025398	biolink:PhenotypicFeature	Nodular-perilymphatic pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.		hp.json		http://purl.obolibrary.org/obo/HP_0025398							
HP:0025399	biolink:PhenotypicFeature	Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.		hp.json		http://purl.obolibrary.org/obo/HP_0025399							
HP:0025400	biolink:PhenotypicFeature	Nodular-random pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.		hp.json		http://purl.obolibrary.org/obo/HP_0025400							
HP:0025401	biolink:PhenotypicFeature	Staring gaze	An abnormality in which the eyes are held permanently wide open.		hp.json	Staring eyes	http://purl.obolibrary.org/obo/HP_0025401							
HP:0025402	biolink:PhenotypicFeature	Square-wave jerks	Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.		hp.json		http://purl.obolibrary.org/obo/HP_0025402							
HP:0025403	biolink:PhenotypicFeature	Stooped posture	A habitual positioning of the body with the head and upper back bent forward.		hp.json		http://purl.obolibrary.org/obo/HP_0025403							
HP:0025404	biolink:PhenotypicFeature	Abnormal visual fixation	Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.		hp.json		http://purl.obolibrary.org/obo/HP_0025404							
HP:0025405	biolink:PhenotypicFeature	Visual fixation instability	A deficit in the ability to fixate eye movements in order to stabilize images on the retina		hp.json	Instability of ocular fixation	http://purl.obolibrary.org/obo/HP_0025405							
HP:0025406	biolink:PhenotypicFeature	Asthenia	A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.		hp.json	Lack of energy and strength|Weakness	http://purl.obolibrary.org/obo/HP_0025406							
HP:0025407	biolink:PhenotypicFeature	Rectourethral fistula	An abnormal connection (fistula) between the rectum and the urethra.		hp.json	Urethrorectal fistula	http://purl.obolibrary.org/obo/HP_0025407							
HP:0025408	biolink:PhenotypicFeature	Abnormal spleen morphology	Any anomaly of the structure of the spleen.		hp.json	Splenic lesion	http://purl.obolibrary.org/obo/HP_0025408							
HP:0025409	biolink:PhenotypicFeature	Abnormal spleen physiology	Any anomaly of the function of the spleen.		hp.json		http://purl.obolibrary.org/obo/HP_0025409							
HP:0025410	biolink:PhenotypicFeature	Splenogonadal fusion	Joining of the spleen and a gonad during embryological development.		hp.json		http://purl.obolibrary.org/obo/HP_0025410							
HP:0025413	biolink:PhenotypicFeature	Fossa navicularis urethral stricture	A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.		hp.json		http://purl.obolibrary.org/obo/HP_0025413							
HP:0025414	biolink:PhenotypicFeature	Pendulous urethral stricture	A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.		hp.json		http://purl.obolibrary.org/obo/HP_0025414							
HP:0025415	biolink:PhenotypicFeature	Bulbar urethral stricture	A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.		hp.json		http://purl.obolibrary.org/obo/HP_0025415							
HP:0025416	biolink:PhenotypicFeature	Vaginal stricture	A narrowing of the vagina owing to scar formation.		hp.json		http://purl.obolibrary.org/obo/HP_0025416							
HP:0025417	biolink:PhenotypicFeature	Patulous urethra	Urethra more open or expanded than normal.		hp.json		http://purl.obolibrary.org/obo/HP_0025417							
HP:0025418	biolink:PhenotypicFeature	Renal cortical necrosis	Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.		hp.json	Necrosis of the kidney cortex	http://purl.obolibrary.org/obo/HP_0025418							
HP:0025419	biolink:PhenotypicFeature	Pulmonary pneumatocele	A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.		hp.json	Pulmonary pneumatocoele	http://purl.obolibrary.org/obo/HP_0025419							
HP:0025420	biolink:PhenotypicFeature	Diffuse alveolar hemorrhage	A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.		hp.json	Diffuse alveolar haemorrhage	http://purl.obolibrary.org/obo/HP_0025420							
HP:0025421	biolink:PhenotypicFeature	Pneumomediastinum	The presence of free air in the mediastinum.		hp.json		http://purl.obolibrary.org/obo/HP_0025421							
HP:0025422	biolink:PhenotypicFeature	Pleural cyst	A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.		hp.json		http://purl.obolibrary.org/obo/HP_0025422							
HP:0025423	biolink:PhenotypicFeature	Abnormal larynx morphology	Any anomaly of the structure of the larynx.		hp.json		http://purl.obolibrary.org/obo/HP_0025423							
HP:0025424	biolink:PhenotypicFeature	Abnormal larynx physiology	Any anomaly of the function of the larynx.		hp.json		http://purl.obolibrary.org/obo/HP_0025424							
HP:0025425	biolink:PhenotypicFeature	Laryngospasm	A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.		hp.json		http://purl.obolibrary.org/obo/HP_0025425							
HP:0025426	biolink:PhenotypicFeature	Abnormal bronchus morphology	Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.		hp.json	Abnormality of the bronchi	http://purl.obolibrary.org/obo/HP_0025426							
HP:0025427	biolink:PhenotypicFeature	Abnormal bronchus physiology	Any anomaly of the function of the bronchi.		hp.json		http://purl.obolibrary.org/obo/HP_0025427							
HP:0025428	biolink:PhenotypicFeature	Bronchospasm	A spasm (sudden, involuntary constriction) of the bronchioles.		hp.json		http://purl.obolibrary.org/obo/HP_0025428							
HP:0025429	biolink:PhenotypicFeature	Abnormal cry	Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.		hp.json		http://purl.obolibrary.org/obo/HP_0025429							
HP:0025430	biolink:PhenotypicFeature	High-pitched cry	A type of crying in an abnormally high-pitched voice.		hp.json		http://purl.obolibrary.org/obo/HP_0025430							
HP:0025431	biolink:PhenotypicFeature	Staccato cry	A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.		hp.json		http://purl.obolibrary.org/obo/HP_0025431							
HP:0025432	biolink:PhenotypicFeature	Acanthoma	A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.		hp.json		http://purl.obolibrary.org/obo/HP_0025432							
HP:0025433	biolink:PhenotypicFeature	Decreased lecithin cholesterol acyl transferase level	Reduced level of the enzyme lecithin cholesterol acyl transferase.		hp.json		http://purl.obolibrary.org/obo/HP_0025433							
HP:0025434	biolink:PhenotypicFeature	Reduced hemolytic complement activity	A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.		hp.json	Reduced CH50	http://purl.obolibrary.org/obo/HP_0025434							
HP:0025435	biolink:PhenotypicFeature	Increased circulating lactate dehydrogenase concentration	An elevated level of the enzyme lactate dehydrogenase in the blood circulation.		hp.json	Increased lactate dehydrogenase level	http://purl.obolibrary.org/obo/HP_0025435							
HP:0025436	biolink:PhenotypicFeature	Elevated serum 11-deoxycortisol	Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.		hp.json	Elevated serum 21-hydroxyprogesterone|Elevated serum deoxycorticosterone	http://purl.obolibrary.org/obo/HP_0025436							
HP:0025437	biolink:PhenotypicFeature	Macrocephalic sperm head	Increased size of the head of sperm.		hp.json		http://purl.obolibrary.org/obo/HP_0025437							
HP:0025439	biolink:PhenotypicFeature	Pharyngitis	Inflammation (due to infection or irritation) of the pharynx.		hp.json		http://purl.obolibrary.org/obo/HP_0025439							
HP:0025440	biolink:PhenotypicFeature	Warm reactive autoantibody positivity	Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.		hp.json		http://purl.obolibrary.org/obo/HP_0025440							
HP:0025441	biolink:PhenotypicFeature	Achilles tendon calcification	Ectopic deposition of calcium salts in the Achilles tendon.		hp.json	Calcification of the Achilles tendon	http://purl.obolibrary.org/obo/HP_0025441							
HP:0025443	biolink:PhenotypicFeature	Abnormal cardiac atrial physiology	An abnormality of the function of the cardiac atria.		hp.json		http://purl.obolibrary.org/obo/HP_0025443							
HP:0025444	biolink:PhenotypicFeature	Reduced amygdala volume	A decrease in the volume (size) of the amygdyla.		hp.json	Decrease in amygdala volume	http://purl.obolibrary.org/obo/HP_0025444							
HP:0025445	biolink:PhenotypicFeature	Morphological abnormality of the papillary muscles	Any structural anomaly of the papillary muscles of the left ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0025445							
HP:0025446	biolink:PhenotypicFeature	Anomalous insertion of papillary muscle directly into anterior mitral leaflet	A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.		hp.json		http://purl.obolibrary.org/obo/HP_0025446							
HP:0025447	biolink:PhenotypicFeature	Displacement of the papillary muscles	Abnormal location of the insertion of a papillary muscle into the left ventricular wall.		hp.json		http://purl.obolibrary.org/obo/HP_0025447							
HP:0025448	biolink:PhenotypicFeature	Anterior displacement of the papillary muscles	Abnormally anterior location of the papillary muscles of the left ventricle.		hp.json	Anteriorly displaced papillary muscles	http://purl.obolibrary.org/obo/HP_0025448							
HP:0025449	biolink:PhenotypicFeature	Apically displaced anterolateral papillary muscle	Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,		hp.json	Apically displaced papillary muscles	http://purl.obolibrary.org/obo/HP_0025449							
HP:0025451	biolink:PhenotypicFeature	Testicular adrenal rest tumor	Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.		hp.json	Testicular adrenal rest tumour	http://purl.obolibrary.org/obo/HP_0025451							
HP:0025452	biolink:PhenotypicFeature	Pyoderma gangrenosum	A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.		hp.json		http://purl.obolibrary.org/obo/HP_0025452							
HP:0025453	biolink:PhenotypicFeature	Delayed adrenarche	Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.		hp.json		http://purl.obolibrary.org/obo/HP_0025453							
HP:0025454	biolink:PhenotypicFeature	Abnormal CSF metabolite level	Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0025454							
HP:0025455	biolink:PhenotypicFeature	Decreased CSF 5-hydroxyindolacetic acid	CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.		hp.json	Decreased CSF 5-HIAA|Low CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid	http://purl.obolibrary.org/obo/HP_0025455							
HP:0025456	biolink:PhenotypicFeature	Abnormal CSF protein level	Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0025456							
HP:0025457	biolink:PhenotypicFeature	Decreased CSF protein	CSF total protein level is below the lower limit of normal.		hp.json	Low CSF total protein|Decreased cerebrospinal fluid total protein|Hypoproteinorrhachia	http://purl.obolibrary.org/obo/HP_0025457							
HP:0025458	biolink:PhenotypicFeature	Decreased CSF albumin concentration	CSF albumin level is below the lower limit of normal.		hp.json	Low CSF albumin	http://purl.obolibrary.org/obo/HP_0025458							
HP:0025459	biolink:PhenotypicFeature	Increased CSF/serum albumin ratio	An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.		hp.json		http://purl.obolibrary.org/obo/HP_0025459							
HP:0025460	biolink:PhenotypicFeature	High myoinositol in brain by MRS	An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json	High myo-inositol in brain by MRS	http://purl.obolibrary.org/obo/HP_0025460							
HP:0025461	biolink:PhenotypicFeature	Abnormal cell morphology	Any anomaly of cell structure.		hp.json		http://purl.obolibrary.org/obo/HP_0025461							
HP:0025462	biolink:PhenotypicFeature	obsolete Abnormal cellular physiology			hp.json		http://purl.obolibrary.org/obo/HP_0025462							
HP:0025463	biolink:PhenotypicFeature	Abnormality of redox activity	An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.		hp.json		http://purl.obolibrary.org/obo/HP_0025463							
HP:0025464	biolink:PhenotypicFeature	Increased reactive oxygen species production	An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.		hp.json	Increased ROS production|Oxidative stress	http://purl.obolibrary.org/obo/HP_0025464							
HP:0025465	biolink:PhenotypicFeature	Abnormal circulating beta globulin level	A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.		hp.json		http://purl.obolibrary.org/obo/HP_0025465							
HP:0025466	biolink:PhenotypicFeature	Beta 2-microglobulinuria	Increased level of beta 2-microglobulins in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0025466							
HP:0025469	biolink:PhenotypicFeature	Anagen effluvium	An abnormal loss of anagen (growth phase) hairs.		hp.json		http://purl.obolibrary.org/obo/HP_0025469							
HP:0025470	biolink:PhenotypicFeature	Telogen effluvium	A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.		hp.json		http://purl.obolibrary.org/obo/HP_0025470							
HP:0025471	biolink:PhenotypicFeature	Congenital panfollicular nevus	A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.		hp.json		http://purl.obolibrary.org/obo/HP_0025471							
HP:0025472	biolink:PhenotypicFeature	Recurrent plantar mycosis	A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.		hp.json		http://purl.obolibrary.org/obo/HP_0025472							
HP:0025473	biolink:PhenotypicFeature	Hyperpigmented papule	A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.		hp.json		http://purl.obolibrary.org/obo/HP_0025473							
HP:0025474	biolink:PhenotypicFeature	Erythematous plaque	A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.		hp.json	Violaceous plaque	http://purl.obolibrary.org/obo/HP_0025474							
HP:0025475	biolink:PhenotypicFeature	Erythematous macule	A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.		hp.json		http://purl.obolibrary.org/obo/HP_0025475							
HP:0025476	biolink:PhenotypicFeature	Testicular lipomatosis	Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.		hp.json		http://purl.obolibrary.org/obo/HP_0025476							
HP:0025477	biolink:PhenotypicFeature	Periarticular calcification	Calcified deposits in soft tissue structures outside a joint.		hp.json		http://purl.obolibrary.org/obo/HP_0025477							
HP:0025478	biolink:PhenotypicFeature	Atrial standstill	Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.		hp.json	Silent atrium	http://purl.obolibrary.org/obo/HP_0025478							
HP:0025479	biolink:PhenotypicFeature	Self-neglect	Neglecting one's own needs and well-being.		hp.json		http://purl.obolibrary.org/obo/HP_0025479							
HP:0025480	biolink:PhenotypicFeature	Lipomyelomeningocele	A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.		hp.json		http://purl.obolibrary.org/obo/HP_0025480							
HP:0025481	biolink:PhenotypicFeature	Cervical hemivertebrae	Absence of one half of the vertebral body in the cervical spine.		hp.json		http://purl.obolibrary.org/obo/HP_0025481							
HP:0025482	biolink:PhenotypicFeature	Positive perchlorate discharge test	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.json		http://purl.obolibrary.org/obo/HP_0025482							
HP:0025483	biolink:PhenotypicFeature	Abnormal circulating thyroglobulin level	A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.		hp.json		http://purl.obolibrary.org/obo/HP_0025483							
HP:0025484	biolink:PhenotypicFeature	Increased circulating thyroglobulin level	An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.		hp.json		http://purl.obolibrary.org/obo/HP_0025484							
HP:0025485	biolink:PhenotypicFeature	Vaginal adenosis	Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.		hp.json		http://purl.obolibrary.org/obo/HP_0025485							
HP:0025486	biolink:PhenotypicFeature	Fused labia majora	The outer labia are sealed together.		hp.json		http://purl.obolibrary.org/obo/HP_0025486							
HP:0025487	biolink:PhenotypicFeature	Abnormality of bladder morphology	Any structural anomaly of the bladder.		hp.json		http://purl.obolibrary.org/obo/HP_0025487							
HP:0025488	biolink:PhenotypicFeature	Detrusor sphincter dyssynergia	A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.		hp.json		http://purl.obolibrary.org/obo/HP_0025488							
HP:0025489	biolink:PhenotypicFeature	Bladder duplication	A congenital anomaly characterized by the presence of two bladders.		hp.json		http://purl.obolibrary.org/obo/HP_0025489							
HP:0025490	biolink:PhenotypicFeature	Myocardial bridging	A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.		hp.json	Intramyocardial coronary artery course	http://purl.obolibrary.org/obo/HP_0025490							
HP:0025491	biolink:PhenotypicFeature	Venous stenosis	Narrowing of a vein due to intimal hyperplasia and fibrosis.		hp.json		http://purl.obolibrary.org/obo/HP_0025491							
HP:0025492	biolink:PhenotypicFeature	Microcoria	A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.		hp.json		http://purl.obolibrary.org/obo/HP_0025492							
HP:0025493	biolink:PhenotypicFeature	Palmoplantar erythema	Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.		hp.json		http://purl.obolibrary.org/obo/HP_0025493							
HP:0025494	biolink:PhenotypicFeature	Coated aorta	Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans		hp.json		http://purl.obolibrary.org/obo/HP_0025494							
HP:0025495	biolink:PhenotypicFeature	Descending aorta hypoplasia	Significant luminal narrowing of a long segment of the descending aorta.		hp.json		http://purl.obolibrary.org/obo/HP_0025495							
HP:0025496	biolink:PhenotypicFeature	Abnormal coronary artery physiology	Any anomaly of the function of a coronary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0025496							
HP:0025497	biolink:PhenotypicFeature	Coronary artery spasm	A brief and sudden narrowing of a coronary artery.		hp.json	Coronary artery vasospasm	http://purl.obolibrary.org/obo/HP_0025497							
HP:0025498	biolink:PhenotypicFeature	Aceruloplasminemia	Absence of ceruloplasmin in the blood.		hp.json	Aceruloplasminaemia	http://purl.obolibrary.org/obo/HP_0025498							
HP:0025499	biolink:PhenotypicFeature	Class I obesity	Obesity with a body mass index of 30 to 34.9 kg per square meter.		hp.json	Obesity grade 1	http://purl.obolibrary.org/obo/HP_0025499							
HP:0025500	biolink:PhenotypicFeature	Class II obesity	Obesity with a body mass index of 35 to 39.9 kg per square meter.		hp.json	Obesity grade 2	http://purl.obolibrary.org/obo/HP_0025500							
HP:0025501	biolink:PhenotypicFeature	Class III obesity	Obesity with a body mass index of 40 kg per square meter or higher.		hp.json	Obesity grade 3	http://purl.obolibrary.org/obo/HP_0025501							
HP:0025502	biolink:PhenotypicFeature	Overweight	Increased body weight with a body mass index of 25-29.9 kg per square meter.		hp.json		http://purl.obolibrary.org/obo/HP_0025502							
HP:0025503	biolink:PhenotypicFeature	Anomalous coronary artery arising from the opposite sinus	Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.		hp.json		http://purl.obolibrary.org/obo/HP_0025503							
HP:0025505	biolink:PhenotypicFeature	Anomalous origin of the circumflex artery from the right sinus of Valsalva	The circumflex coronary artery originates from the right aortic sinus of Valsalva.		hp.json		http://purl.obolibrary.org/obo/HP_0025505							
HP:0025506	biolink:PhenotypicFeature	Coronary artery sandwich anomaly	Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,		hp.json	Anomalous coronary artery with aortic origin and course between the great arteries	http://purl.obolibrary.org/obo/HP_0025506							
HP:0025507	biolink:PhenotypicFeature	Yellow papule	A papule with yellow color.		hp.json	Yellow-orange papule	http://purl.obolibrary.org/obo/HP_0025507							
HP:0025508	biolink:PhenotypicFeature	Gottron's papules	Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.		hp.json	Gottron papules	http://purl.obolibrary.org/obo/HP_0025508							
HP:0025509	biolink:PhenotypicFeature	Piezogenic pedal papules	Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.		hp.json		http://purl.obolibrary.org/obo/HP_0025509							
HP:0025510	biolink:PhenotypicFeature	Nevus spilus	A tan, regularly bordered patch with darker macules within the lesion.		hp.json	Speckled lentiginous Nevus	http://purl.obolibrary.org/obo/HP_0025510							
HP:0025511	biolink:PhenotypicFeature	Nevus sebaceus	A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.		hp.json		http://purl.obolibrary.org/obo/HP_0025511							
HP:0025512	biolink:PhenotypicFeature	Skin-colored papule	A papule with the same color as the surrounding skin.		hp.json	Flesh-colored papule	http://purl.obolibrary.org/obo/HP_0025512							
HP:0025513	biolink:PhenotypicFeature	Scleral rupture	Breakage of the sclera.		hp.json		http://purl.obolibrary.org/obo/HP_0025513							
HP:0025514	biolink:PhenotypicFeature	Morning glory anomaly	An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.		hp.json	Morning glory disc anomaly|Morning glory optic disc	http://purl.obolibrary.org/obo/HP_0025514							
HP:0025515	biolink:PhenotypicFeature	Delayed thelarche	Later than normal development of the breasts.		hp.json		http://purl.obolibrary.org/obo/HP_0025515							
HP:0025516	biolink:PhenotypicFeature	Coronary-pulmonary artery fistula	A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0025516							
HP:0025517	biolink:PhenotypicFeature	Hypoplastic hippocampus	Underdevelopment of the hippocampus.		hp.json	Small hippocampus|Underdeveloped hippocampus	http://purl.obolibrary.org/obo/HP_0025517							
HP:0025518	biolink:PhenotypicFeature	Visual gaze preference	An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.		hp.json		http://purl.obolibrary.org/obo/HP_0025518							
HP:0025519	biolink:PhenotypicFeature	Multiple biliary hamartomas	Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.		hp.json	Multiple bile duct hamartomas|Von Meyenburg complexes|Biliary hamartoma	http://purl.obolibrary.org/obo/HP_0025519							
HP:0025520	biolink:PhenotypicFeature	Calcinosis cutis	Deposition of calcium in the skin.		hp.json	Cutaneous calcification	http://purl.obolibrary.org/obo/HP_0025520							
HP:0025521	biolink:PhenotypicFeature	Increased body fat percentage	The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.		hp.json		http://purl.obolibrary.org/obo/HP_0025521							
HP:0025522	biolink:PhenotypicFeature	Elongated chordae tendinae of the mitral valve	Abnormal increased in length of the chordae tendinae of the mitral valve.		hp.json		http://purl.obolibrary.org/obo/HP_0025522							
HP:0025523	biolink:PhenotypicFeature	Abnormal morphology of the chordae tendinae of the mitral valve	A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.		hp.json		http://purl.obolibrary.org/obo/HP_0025523							
HP:0025524	biolink:PhenotypicFeature	Palmoplantar scaling skin	Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.		hp.json	Palmoplantar psoriasis	http://purl.obolibrary.org/obo/HP_0025524							
HP:0025525	biolink:PhenotypicFeature	Scaling skin on fingertip	Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.		hp.json		http://purl.obolibrary.org/obo/HP_0025525							
HP:0025526	biolink:PhenotypicFeature	Psoriasiform lesion	A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.		hp.json	Psoriatic-like lesion|Erythemato-squamous plaque|Erythematosquamous plaque	http://purl.obolibrary.org/obo/HP_0025526							
HP:0025527	biolink:PhenotypicFeature	Serpiginous cutaneous lesion	A skin lesion with a snake- or serpent-like distribution.		hp.json	Serpiginous eruption	http://purl.obolibrary.org/obo/HP_0025527							
HP:0025528	biolink:PhenotypicFeature	Annular cutaneous lesion	A lesion of the skin with a ring-like distribution.		hp.json		http://purl.obolibrary.org/obo/HP_0025528							
HP:0025529	biolink:PhenotypicFeature	Hyperpigmented nodule	A nodule of the skin that exhibits an increased amount of pigmentation.		hp.json		http://purl.obolibrary.org/obo/HP_0025529							
HP:0025530	biolink:PhenotypicFeature	Xanthomas of the palmar creases	The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.		hp.json	Xanthoma palmare striatum|Xanthoma striatum palmare	http://purl.obolibrary.org/obo/HP_0025530							
HP:0025531	biolink:PhenotypicFeature	Harlequin phenomenon	The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0025531							
HP:0025532	biolink:PhenotypicFeature	Positive pathergy test	With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.		hp.json		http://purl.obolibrary.org/obo/HP_0025532							
HP:0025533	biolink:PhenotypicFeature	Peau d'orange			hp.json		http://purl.obolibrary.org/obo/HP_0025533							
HP:0025534	biolink:PhenotypicFeature	Ocular melanocytosis	A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.		hp.json	Melanosis oculi|Ocular melanosis	http://purl.obolibrary.org/obo/HP_0025534							
HP:0025535	biolink:PhenotypicFeature	Shawl sign	Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.		hp.json		http://purl.obolibrary.org/obo/HP_0025535							
HP:0025536	biolink:PhenotypicFeature	V-sign	Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.		hp.json		http://purl.obolibrary.org/obo/HP_0025536							
HP:0025537	biolink:PhenotypicFeature	Plantar edema	An abnormal accumulation of fluid beneath the skin on sole of the foot.		hp.json	Plantar oedema	http://purl.obolibrary.org/obo/HP_0025537							
HP:0025538	biolink:PhenotypicFeature	Palmar edema	An abnormal accumulation of fluid beneath the skin on the palm of the hand.		hp.json	Palmar oedema	http://purl.obolibrary.org/obo/HP_0025538							
HP:0025539	biolink:PhenotypicFeature	Abnormal B cell subset distribution			hp.json		http://purl.obolibrary.org/obo/HP_0025539							
HP:0025540	biolink:PhenotypicFeature	Abnormal T cell subset distribution	Any abnormality in the proportion T cells subsets relative to the total number of T cells.		hp.json		http://purl.obolibrary.org/obo/HP_0025540							
HP:0025541	biolink:PhenotypicFeature	obsolete Decreased activity of complement receptor			hp.json		http://purl.obolibrary.org/obo/HP_0025541							
HP:0025546	biolink:PhenotypicFeature	Abnormal mean corpuscular hemoglobin concentration	A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.		hp.json	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							
HP:0025547	biolink:PhenotypicFeature	Decreased mean corpuscular hemoglobin concentration	A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.		hp.json	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							
HP:0025548	biolink:PhenotypicFeature	Increased mean corpuscular hemoglobin concentration	An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).		hp.json	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							
HP:0025549	biolink:PhenotypicFeature	Eccentric visual fixation	A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.		hp.json	Eccentric fixation	http://purl.obolibrary.org/obo/HP_0025549							
HP:0025550	biolink:PhenotypicFeature	Elevated circulating ribitol concentration	An increase above the normal concentration of ribitol in the blood.		hp.json	Increased level of ribitol in serum	http://purl.obolibrary.org/obo/HP_0025550							
HP:0025551	biolink:PhenotypicFeature	Optic nerve misrouting	Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).		hp.json	Optic pathway misrouting|Visual pathway misrouting	http://purl.obolibrary.org/obo/HP_0025551							
HP:0025552	biolink:PhenotypicFeature	Periorbital purpura	Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.		hp.json		http://purl.obolibrary.org/obo/HP_0025552							
HP:0025553	biolink:PhenotypicFeature	Periorbital ecchymosis with tarsal plate sparing	Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.		hp.json	Raccoon eyes	http://purl.obolibrary.org/obo/HP_0025553							
HP:0025554	biolink:PhenotypicFeature	Yellow nodule	A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).		hp.json		http://purl.obolibrary.org/obo/HP_0025554							
HP:0025555	biolink:PhenotypicFeature	Periungual teleangiectasia	Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.		hp.json		http://purl.obolibrary.org/obo/HP_0025555							
HP:0025558	biolink:PhenotypicFeature	Lamellar cataract with riders	Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.		hp.json		http://purl.obolibrary.org/obo/HP_0025558							
HP:0025559	biolink:PhenotypicFeature	Coronary cataract	A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.		hp.json		http://purl.obolibrary.org/obo/HP_0025559							
HP:0025560	biolink:PhenotypicFeature	Anterior chamber cells	Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025560							
HP:0025561	biolink:PhenotypicFeature	Anterior chamber cells grade 1+	Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025561							
HP:0025562	biolink:PhenotypicFeature	Anterior chamber cells grade 0.5+	Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025562							
HP:0025563	biolink:PhenotypicFeature	Anterior chamber cells grade 0	Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025563							
HP:0025564	biolink:PhenotypicFeature	Anterior chamber cells grade 2+	Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025564							
HP:0025565	biolink:PhenotypicFeature	Anterior chamber cells grade 3+	Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025565							
HP:0025566	biolink:PhenotypicFeature	Anterior chamber cells grade 4+	Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.		hp.json		http://purl.obolibrary.org/obo/HP_0025566							
HP:0025567	biolink:PhenotypicFeature	Central serous chorioretinopathy	An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.		hp.json		http://purl.obolibrary.org/obo/HP_0025567							
HP:0025568	biolink:PhenotypicFeature	Abnormal morphology of the choroidal vasculature			hp.json		http://purl.obolibrary.org/obo/HP_0025568							
HP:0025569	biolink:PhenotypicFeature	Polypoidal choroidal vasculopathy	The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.		hp.json		http://purl.obolibrary.org/obo/HP_0025569							
HP:0025570	biolink:PhenotypicFeature	Choroidal vascular hyperpermeability	Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).		hp.json	Choroidal hyperpermeability	http://purl.obolibrary.org/obo/HP_0025570							
HP:0025571	biolink:PhenotypicFeature	Christmas tree cataract	A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.		hp.json		http://purl.obolibrary.org/obo/HP_0025571							
HP:0025572	biolink:PhenotypicFeature	Punctal stenosis	Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.		hp.json	Lacrimal punctum stenosis|Stenosis of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0025572							
HP:0025573	biolink:PhenotypicFeature	Mild myopia	A mild form of myopia with up to -3.00 diopters.		hp.json		http://purl.obolibrary.org/obo/HP_0025573							
HP:0025574	biolink:PhenotypicFeature	Macular hemorrhage	Bleeding occurring within the macula lutea of the retina.		hp.json	Macular haemorrhage	http://purl.obolibrary.org/obo/HP_0025574							
HP:0025575	biolink:PhenotypicFeature	Abnormal superior vena cava morphology	Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.	Fyler:2820	hp.json		http://purl.obolibrary.org/obo/HP_0025575							
HP:0025576	biolink:PhenotypicFeature	Abnormal inferior vena cava morphology	Any structural anomaly of the principal vein draining blood from the lower portion of the body.	Fyler:2810	hp.json		http://purl.obolibrary.org/obo/HP_0025576							
HP:0025578	biolink:PhenotypicFeature	Aortic valve prolapse	Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.	Fyler:1452	hp.json		http://purl.obolibrary.org/obo/HP_0025578							
HP:0025579	biolink:PhenotypicFeature	Abnormal left atrium morphology	Any structural abnormality of the left atrium.	Fyler:3010	hp.json		http://purl.obolibrary.org/obo/HP_0025579							
HP:0025580	biolink:PhenotypicFeature	Abnormal right atrium morphology	Any structural abnormality of the right atrium.	Fyler:1770	hp.json		http://purl.obolibrary.org/obo/HP_0025580							
HP:0025581	biolink:PhenotypicFeature	Foveal hemorrhage	Bleeding occurring within the fovea.		hp.json	Foveal haemorrhage	http://purl.obolibrary.org/obo/HP_0025581							
HP:0025582	biolink:PhenotypicFeature	Submacular hemorrhage	Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.		hp.json	Sub-macular haemorrhage|Submacular haemorrhage|Sub-macular hemorrhage	http://purl.obolibrary.org/obo/HP_0025582							
HP:0025583	biolink:PhenotypicFeature	Tapetal-like fundal reflex	Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.		hp.json		http://purl.obolibrary.org/obo/HP_0025583							
HP:0025584	biolink:PhenotypicFeature	Hypotropia	A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.		hp.json		http://purl.obolibrary.org/obo/HP_0025584							
HP:0025585	biolink:PhenotypicFeature	Hyperphoria	Tendency for the visual axis of one eye to be higher than that of the other.		hp.json		http://purl.obolibrary.org/obo/HP_0025585							
HP:0025586	biolink:PhenotypicFeature	Hypertropia	A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.		hp.json		http://purl.obolibrary.org/obo/HP_0025586							
HP:0025587	biolink:PhenotypicFeature	Hyperdeviation	A type of strabismus in which the visual axis of one eye is higher than that of the other.		hp.json		http://purl.obolibrary.org/obo/HP_0025587							
HP:0025588	biolink:PhenotypicFeature	Hypodeviation	A type of strabismus in which the visual axis of one eye is lower than that of the other.		hp.json		http://purl.obolibrary.org/obo/HP_0025588							
HP:0025589	biolink:PhenotypicFeature	Cyclodeviation	Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.		hp.json		http://purl.obolibrary.org/obo/HP_0025589							
HP:0025590	biolink:PhenotypicFeature	Abnormal extraocular muscle physiology	A functional anomaly of the muscles of the eye.		hp.json		http://purl.obolibrary.org/obo/HP_0025590							
HP:0025591	biolink:PhenotypicFeature	Abnormal superior oblique muscle physiology	A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0025591							
HP:0025592	biolink:PhenotypicFeature	Superior oblique muscle weakness	Decreased strength of the superior oblique muscle.		hp.json	Superior oblique palsy	http://purl.obolibrary.org/obo/HP_0025592							
HP:0025593	biolink:PhenotypicFeature	Superior oblique muscle restriction	Mechanical limitation of the range of movement of the superior oblique muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0025593							
HP:0025594	biolink:PhenotypicFeature	Superior oblique muscle overaction	An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.		hp.json		http://purl.obolibrary.org/obo/HP_0025594							
HP:0025595	biolink:PhenotypicFeature	Superior oblique muscle underaction	Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.		hp.json	Under-depression in adduction	http://purl.obolibrary.org/obo/HP_0025595							
HP:0025596	biolink:PhenotypicFeature	Abnormal inferior oblique muscle physiology	A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0025596							
HP:0025597	biolink:PhenotypicFeature	Inferior oblique muscle restriction	Mechanical limitation of the range of movement of the inferior oblique muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0025597							
HP:0025598	biolink:PhenotypicFeature	Inferior oblique muscle weakness	Decreased strength of the inferior oblique muscle.		hp.json	Inferior oblique palsy	http://purl.obolibrary.org/obo/HP_0025598							
HP:0025599	biolink:PhenotypicFeature	Inferior oblique muscle overaction	A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.		hp.json		http://purl.obolibrary.org/obo/HP_0025599							
HP:0025600	biolink:PhenotypicFeature	Abnormal inferior rectus muscle physiology	A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.		hp.json		http://purl.obolibrary.org/obo/HP_0025600							
HP:0025601	biolink:PhenotypicFeature	Inferior rectus muscle weakness	Decreased strength of the inferior rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0025601							
HP:0025602	biolink:PhenotypicFeature	Inferior rectus muscle restriction	Mechanical limitation of the range of movement of the inferior rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0025602							
HP:0025603	biolink:PhenotypicFeature	Abnormal superior rectus muscle physiology	A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.		hp.json		http://purl.obolibrary.org/obo/HP_0025603							
HP:0025604	biolink:PhenotypicFeature	Orbital schwannoma	A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.		hp.json		http://purl.obolibrary.org/obo/HP_0025604							
HP:0025605	biolink:PhenotypicFeature	Lid lag on downgaze	Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.		hp.json	Eyelid lag|Lid lag|von Graefe sign	http://purl.obolibrary.org/obo/HP_0025605							
HP:0025606	biolink:PhenotypicFeature	Abnormal medial rectus muscle physiology	A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.		hp.json		http://purl.obolibrary.org/obo/HP_0025606							
HP:0025607	biolink:PhenotypicFeature	Upper eyelid entropion	An inward turning (inversion) of the margin of the upper eyelid.		hp.json		http://purl.obolibrary.org/obo/HP_0025607							
HP:0025608	biolink:PhenotypicFeature	Cicatricial ectropion	An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.		hp.json		http://purl.obolibrary.org/obo/HP_0025608							
HP:0025609	biolink:PhenotypicFeature	Anterior blepharitis	A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.		hp.json		http://purl.obolibrary.org/obo/HP_0025609							
HP:0025610	biolink:PhenotypicFeature	Posterior blepharitis	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.json	Meibomian gland dysfunction|Meibomian gland disease	http://purl.obolibrary.org/obo/HP_0025610							
HP:0025611	biolink:PhenotypicFeature	Epicanthus superciliaris	A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).		hp.json		http://purl.obolibrary.org/obo/HP_0025611							
HP:0025612	biolink:PhenotypicFeature	Corneal astigmatism	A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.		hp.json		http://purl.obolibrary.org/obo/HP_0025612							
HP:0025613	biolink:PhenotypicFeature	Focal emotional seizure	Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.		hp.json	Affective seizure|Emotional seizure|Focal affective seizure|Partial emotional seizure	http://purl.obolibrary.org/obo/HP_0025613							
HP:0025615	biolink:PhenotypicFeature	Abscess			hp.json		http://purl.obolibrary.org/obo/HP_0025615							
HP:0025616	biolink:PhenotypicFeature	Sterile abscess	An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.		hp.json		http://purl.obolibrary.org/obo/HP_0025616							
HP:0025617	biolink:PhenotypicFeature	Abnormal plasma cell count	An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.		hp.json		http://purl.obolibrary.org/obo/HP_0025617							
HP:0025618	biolink:PhenotypicFeature	Reduced plasma cell count	An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.		hp.json		http://purl.obolibrary.org/obo/HP_0025618							
HP:0025619	biolink:PhenotypicFeature	Elevated plasma cell count	An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.		hp.json		http://purl.obolibrary.org/obo/HP_0025619							
HP:0025620	biolink:PhenotypicFeature	Abnormal proportion of CD4+ central memory cells	An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.		hp.json	Abnormal proportion of central memory CD4+, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0025620							
HP:0025621	biolink:PhenotypicFeature	obsolete Increased proportion of CD4+ central memory cells			hp.json		http://purl.obolibrary.org/obo/HP_0025621							
HP:0025622	biolink:PhenotypicFeature	obsolete Decreased proportion of CD4+ central memory cells			hp.json		http://purl.obolibrary.org/obo/HP_0025622							
HP:0025623	biolink:PhenotypicFeature	Abnormal proportion of CD4+ effector memory cells	An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json	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							
HP:0025624	biolink:PhenotypicFeature	Reduced proportion of CD4+ effector memory T cells	An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json	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							
HP:0025625	biolink:PhenotypicFeature	Elevated proportion of CD4+ effector memory T cells	An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.		hp.json	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							
HP:0025626	biolink:PhenotypicFeature	Increased circulating oleate level	An abnormally high concentration of oleic acid (oleate) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025626							
HP:0025627	biolink:PhenotypicFeature	Increased circulating octadecanoate level	An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).		hp.json		http://purl.obolibrary.org/obo/HP_0025627							
HP:0025628	biolink:PhenotypicFeature	Increased circulating myristoleate level	An abnormally high concentration of myristoleate in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025628							
HP:0025629	biolink:PhenotypicFeature	Anti-myelin-associated glycoprotein antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).		hp.json		http://purl.obolibrary.org/obo/HP_0025629							
HP:0025630	biolink:PhenotypicFeature	Argininosuccinic aciduria	Increased amount of argininosuccinate in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0025630							
HP:0025631	biolink:PhenotypicFeature	Alpha-aminobutyric aciduria	Increased amount of alpha-aminobutyric acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0025631							
HP:0025632	biolink:PhenotypicFeature	Reduced reactive oxygen species production in neutrophils			hp.json		http://purl.obolibrary.org/obo/HP_0025632							
HP:0025633	biolink:PhenotypicFeature	Abnormal ureter morphology	A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.		hp.json		http://purl.obolibrary.org/obo/HP_0025633							
HP:0025634	biolink:PhenotypicFeature	Abnormal ureter physiology	A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.		hp.json		http://purl.obolibrary.org/obo/HP_0025634							
HP:0025635	biolink:PhenotypicFeature	Ureteral polyp	A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.	NCIT:C4530	hp.json	Polyp of the ureter|Ureter polyp	http://purl.obolibrary.org/obo/HP_0025635							
HP:0025636	biolink:PhenotypicFeature	Endometritis	Inflammation of the inner lining of the uterus (endometrium).		hp.json	Endometrial inflammation|Inflammation of the inner lining of the uterus	http://purl.obolibrary.org/obo/HP_0025636							
HP:0025637	biolink:PhenotypicFeature	Vasospasm	Narrowing of an artery due to constriction of the blood vessels.		hp.json	Angiospasm|Blood vessel spasm|Vascular spasm	http://purl.obolibrary.org/obo/HP_0025637							
HP:0025638	biolink:PhenotypicFeature	Elevated urinary N-butyrylglycine	An increased level of N-butyrylglycine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0025638							
HP:0025639	biolink:PhenotypicFeature	Increased urinary zinc level	An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.		hp.json		http://purl.obolibrary.org/obo/HP_0025639							
HP:0025640	biolink:PhenotypicFeature	Abnormal urinary mineral level	An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.		hp.json		http://purl.obolibrary.org/obo/HP_0025640							
HP:0025641	biolink:PhenotypicFeature	Elevated circulating glycolate concentration	An abnormally increased concentration of glycolate in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0025641							
HP:0025643	biolink:PhenotypicFeature	Tarlov cyst	A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.		hp.json	Perineural cyst	http://purl.obolibrary.org/obo/HP_0025643							
HP:0025644	biolink:PhenotypicFeature	Fixation-off epileptiform discharges	Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).		hp.json	Fixation-off sensitivity	http://purl.obolibrary.org/obo/HP_0025644							
HP:0025646	biolink:PhenotypicFeature	Bilateral polymicrogyria	Polymicrogyria that affects all or some of both cerebral hemispheres.		hp.json		http://purl.obolibrary.org/obo/HP_0025646							
HP:0025647	biolink:PhenotypicFeature	Steroid-sensitive nephrotic syndrome	A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy.		hp.json	SSNS	http://purl.obolibrary.org/obo/HP_0025647							
HP:0025648	biolink:PhenotypicFeature	Steroid-sensitive nephrotic syndrome with infrequent relapses	A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.		hp.json		http://purl.obolibrary.org/obo/HP_0025648							
HP:0025649	biolink:PhenotypicFeature	Steroid-sensitive nephrotic syndrome with frequent relapses	A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.		hp.json		http://purl.obolibrary.org/obo/HP_0025649							
HP:0025650	biolink:PhenotypicFeature	Steroid-dependent nephrotic syndrome	A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.		hp.json	SDNS	http://purl.obolibrary.org/obo/HP_0025650							
HP:0030000	biolink:PhenotypicFeature	EMG: repetitive nerve stimulation abnormality	Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.	UMLS:C4022681	hp.json		http://purl.obolibrary.org/obo/HP_0030000							
HP:0030001	biolink:PhenotypicFeature	Lagopthalmos	A condition in which the eyelids do not close to cover the eye completely.	UMLS:C4022680	hp.json	Eyelids stay open|Inability to close the eyelids	http://purl.obolibrary.org/obo/HP_0030001							
HP:0030002	biolink:PhenotypicFeature	Nocturnal lagophthalmos	The inability to close the eyelids during sleep.	SNOMEDCT_US:417740005|UMLS:C1563118	hp.json	Eyelids stay open at night|Inability to close the eyelids at night	http://purl.obolibrary.org/obo/HP_0030002							
HP:0030003	biolink:PhenotypicFeature	Paralytic lagophthalmos	A type of lagophthalmos that occurs in association with facial nerve palsy.	SNOMEDCT_US:59890007|UMLS:C0155197	hp.json		http://purl.obolibrary.org/obo/HP_0030003							
HP:0030004	biolink:PhenotypicFeature	Cicatricial lagophthalmos	A type of lagophthalmos that occurs following trauma or surgery.	SNOMEDCT_US:9042000|UMLS:C0155199	hp.json	Eyelids stay open due to scarring|Inability to close the eyelids due to scarring	http://purl.obolibrary.org/obo/HP_0030004							
HP:0030005	biolink:PhenotypicFeature	Capillary leak	An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.	MSH:D019559|SNOMEDCT_US:1608005|SNOMEDCT_US:87730004|UMLS:C0343084|UMLS:C1382398	hp.json	Increased capillary permeability|Systemic capillary leak syndrome	http://purl.obolibrary.org/obo/HP_0030005							
HP:0030006	biolink:PhenotypicFeature	Single fiber EMG abnormality	Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.	UMLS:C4022679	hp.json	Single fibre EMG abnormality	http://purl.obolibrary.org/obo/HP_0030006							
HP:0030007	biolink:PhenotypicFeature	EMG: positive sharp waves	These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.	SNOMEDCT_US:251527008|UMLS:C0429349	hp.json		http://purl.obolibrary.org/obo/HP_0030007							
HP:0030008	biolink:PhenotypicFeature	Cervical agenesis	Congenital absence of the cervix.	SNOMEDCT_US:37687000|UMLS:C0266404	hp.json	Absent cervix|Aplasia of the cervix|Cervical aplasia	http://purl.obolibrary.org/obo/HP_0030008							
HP:0030009	biolink:PhenotypicFeature	Cervical insufficiency	A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent	MSH:D002581|SNOMEDCT_US:17382005|UMLS:C0007871	hp.json	Incompetent cervix	http://purl.obolibrary.org/obo/HP_0030009							
HP:0030010	biolink:PhenotypicFeature	Hydrometrocolpos	Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.	SNOMEDCT_US:60023006|UMLS:C0269209	hp.json		http://purl.obolibrary.org/obo/HP_0030010							
HP:0030011	biolink:PhenotypicFeature	Imperforate hymen	A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.	MSH:C562397|SNOMEDCT_US:65937002|UMLS:C0152436	hp.json		http://purl.obolibrary.org/obo/HP_0030011							
HP:0030012	biolink:PhenotypicFeature	Abnormal female reproductive system physiology		UMLS:C4020714|UMLS:C4022678	hp.json	Abnormal female reproductive system physiology|Abnormal female genital system physiology	http://purl.obolibrary.org/obo/HP_0030012							
HP:0030013	biolink:PhenotypicFeature	obsolete Endometriosis			hp.json		http://purl.obolibrary.org/obo/HP_0030013							
HP:0030014	biolink:PhenotypicFeature	Female sexual dysfunction	A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	UMLS:C1112442	hp.json		http://purl.obolibrary.org/obo/HP_0030014							
HP:0030015	biolink:PhenotypicFeature	Female anorgasmia	The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.	SNOMEDCT_US:60103007|UMLS:C0033948|UMLS:C4022677	hp.json	Female orgasmic disorder	http://purl.obolibrary.org/obo/HP_0030015							
HP:0030016	biolink:PhenotypicFeature	Dyspareunia	Recurrent or persistent genital pain associated with sexual intercourse.	MSH:D004414|SNOMEDCT_US:71315007|UMLS:C1384606	hp.json		http://purl.obolibrary.org/obo/HP_0030016							
HP:0030017	biolink:PhenotypicFeature	Vaginismus	Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.	MSH:D052065|SNOMEDCT_US:79012001|UMLS:C2004487	hp.json	Myalgia of pelvic floor|Pelvic floor myalgia	http://purl.obolibrary.org/obo/HP_0030017							
HP:0030018	biolink:PhenotypicFeature	Decreased female libido	Dminished sexual desire in female.	UMLS:C4022676	hp.json	Decreased female sex drive	http://purl.obolibrary.org/obo/HP_0030018							
HP:0030019	biolink:PhenotypicFeature	Increased female libido	Elevated sexual desire in female	UMLS:C4022675	hp.json	Increased female sex drive	http://purl.obolibrary.org/obo/HP_0030019							
HP:0030021	biolink:PhenotypicFeature	Auricular tag	Small protrusion within the pinna.	UMLS:C4022674	hp.json		http://purl.obolibrary.org/obo/HP_0030021							
HP:0030022	biolink:PhenotypicFeature	Question mark ear	Cleft between the helix and the lobe.	UMLS:C3888103	hp.json	Question mark ear|Question mark ears|Constricted ear|Cosman ear	http://purl.obolibrary.org/obo/HP_0030022							
HP:0030023	biolink:PhenotypicFeature	Quelprud nodule	Small cartilaginous prominence on the posterior concha.	UMLS:C4022673	hp.json		http://purl.obolibrary.org/obo/HP_0030023							
HP:0030024	biolink:PhenotypicFeature	Pretragal ectopia	Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.	SNOMEDCT_US:204245004|UMLS:C0266609	hp.json	Extra cartilage in front of the ear|Accessory Tragus|Pretragal Duplication	http://purl.obolibrary.org/obo/HP_0030024							
HP:0030025	biolink:PhenotypicFeature	Auricular pit	Small indentation in the lower part of the ascending helix, concha, or in the crus helix.	UMLS:C4022672	hp.json		http://purl.obolibrary.org/obo/HP_0030025							
HP:0030026	biolink:PhenotypicFeature	Squared superior portion of helix	Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.	UMLS:C4022671	hp.json		http://purl.obolibrary.org/obo/HP_0030026							
HP:0030027	biolink:PhenotypicFeature	Abnormality of the nasal cartilage	A morphological anomaly of the nasal cartilage.	UMLS:C4022670	hp.json	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							
HP:0030028	biolink:PhenotypicFeature	Absent nasal cartilage	Lack of a palpable nasal cartilage.	MSH:C562753|SNOMEDCT_US:232381002|UMLS:C4022669|UMLS:C4082198	hp.json	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							
HP:0030029	biolink:PhenotypicFeature	Splayed fingers	Divergence of digits along the A/P axis (in the plane of the palm).	UMLS:C4021057	hp.json	Splayed fingers|Spreading of the fingers	http://purl.obolibrary.org/obo/HP_0030029							
HP:0030030	biolink:PhenotypicFeature	Absent ray	The absence of all phalanges of a digit and the associated metacarpal /metatarsal.	UMLS:C4022668	hp.json		http://purl.obolibrary.org/obo/HP_0030030							
HP:0030031	biolink:PhenotypicFeature	Small toe	Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.	UMLS:C4022667	hp.json	Small toe	http://purl.obolibrary.org/obo/HP_0030031							
HP:0030032	biolink:PhenotypicFeature	Partial absence of foot	An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.	UMLS:C4022666	hp.json	Partial absence of foot	http://purl.obolibrary.org/obo/HP_0030032							
HP:0030033	biolink:PhenotypicFeature	Small finger	Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.	SNOMEDCT_US:299058009|UMLS:C0575827	hp.json	Small finger	http://purl.obolibrary.org/obo/HP_0030033							
HP:0030034	biolink:PhenotypicFeature	Glomerular basement membrane lamellation	Presence of abnormal additional layers of the basement membrane of the glomerulus.	UMLS:C3278307	hp.json	Lamellated/basket-woven thickened glomerular basement membranes|Lamellation of the glomerular basement membrane	http://purl.obolibrary.org/obo/HP_0030034							
HP:0030035	biolink:PhenotypicFeature	Struvite nephrolithiasis	Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).	UMLS:C4021056	hp.json	Struvite kidney stones	http://purl.obolibrary.org/obo/HP_0030035							
HP:0030036	biolink:PhenotypicFeature	Isothenuria	Inability of the kidneys to produce either concentrated or dilute urine.	UMLS:C4022665	hp.json		http://purl.obolibrary.org/obo/HP_0030036							
HP:0030037	biolink:PhenotypicFeature	Bifid ureter	Incomplete duplication of the ureter.	UMLS:C3887498	hp.json		http://purl.obolibrary.org/obo/HP_0030037							
HP:0030038	biolink:PhenotypicFeature	Enchondroma	A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.	MSH:D002812|SNOMEDCT_US:31186001|SNOMEDCT_US:423699002|UMLS:C1704356	hp.json		http://purl.obolibrary.org/obo/HP_0030038							
HP:0030039	biolink:PhenotypicFeature	Fused thoracic vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.	UMLS:C4022664	hp.json		http://purl.obolibrary.org/obo/HP_0030039							
HP:0030040	biolink:PhenotypicFeature	Fused lumbar vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.	UMLS:C4022663	hp.json		http://purl.obolibrary.org/obo/HP_0030040							
HP:0030041	biolink:PhenotypicFeature	Schmorl's node	A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.	SNOMEDCT_US:45181002|UMLS:C0410632	hp.json	Schmorl's nodes	http://purl.obolibrary.org/obo/HP_0030041							
HP:0030042	biolink:PhenotypicFeature	Incomplete ossification of pubis	Failure to complete ossification (maturation and calcification) of the pubic bone.	SNOMEDCT_US:373940002|UMLS:C0685678	hp.json	Incomplete maturation of the pubic bone	http://purl.obolibrary.org/obo/HP_0030042							
HP:0030043	biolink:PhenotypicFeature	Hip subluxation	A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.	SNOMEDCT_US:263057000|UMLS:C0434785	hp.json	Partial hip dislocation|Subluxation involving the hip joint	http://purl.obolibrary.org/obo/HP_0030043							
HP:0030044	biolink:PhenotypicFeature	Flexion contracture of digit	A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.	UMLS:C1839864	hp.json		http://purl.obolibrary.org/obo/HP_0030044							
HP:0030045	biolink:PhenotypicFeature	Serpentine fibula	Elongated curved (S-shaped) fibulae.	UMLS:C3805325	hp.json	S-shaped calf bone	http://purl.obolibrary.org/obo/HP_0030045							
HP:0030046	biolink:PhenotypicFeature	Hypoglycosylation of alpha-dystroglycan	A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.	UMLS:C4015098	hp.json		http://purl.obolibrary.org/obo/HP_0030046							
HP:0030047	biolink:PhenotypicFeature	Abnormal lateral ventricle morphology	A morphological anomaly of the lateral ventricle.	UMLS:C4022662	hp.json	Abnormality of lateral ventricle	http://purl.obolibrary.org/obo/HP_0030047							
HP:0030048	biolink:PhenotypicFeature	Colpocephaly	Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.	MSH:C535973|SNOMEDCT_US:253160006|UMLS:C0431384	hp.json		http://purl.obolibrary.org/obo/HP_0030048							
HP:0030049	biolink:PhenotypicFeature	Brain abscess	A collection of pus, immune cells, and other material in the brain.	MSH:D001922|SNOMEDCT_US:441806004|UMLS:C0006105	hp.json	Brain abscess	http://purl.obolibrary.org/obo/HP_0030049							
HP:0030050	biolink:PhenotypicFeature	Narcolepsy	An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.	MSH:D009290|SNOMEDCT_US:60380001|UMLS:C0027404	hp.json		http://purl.obolibrary.org/obo/HP_0030050							
HP:0030051	biolink:PhenotypicFeature	Tip-toe gait	An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.	UMLS:C1843570	hp.json	Walking on tiptoes	http://purl.obolibrary.org/obo/HP_0030051							
HP:0030052	biolink:PhenotypicFeature	Inguinal freckling	The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	UMLS:C1834297	hp.json	Freckles in groin region	http://purl.obolibrary.org/obo/HP_0030052							
HP:0030053	biolink:PhenotypicFeature	Stiff skin	An induration (hardening) of the skin	UMLS:C3276815	hp.json	Stiff skin|Indurated skin	http://purl.obolibrary.org/obo/HP_0030053							
HP:0030054	biolink:PhenotypicFeature	Perifollicular fibrosis	Presence of excess fibrous connective tissue surrounding hair follicules.	UMLS:C2748531	hp.json		http://purl.obolibrary.org/obo/HP_0030054							
HP:0030055	biolink:PhenotypicFeature	Hyperconvex toenail	When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.	UMLS:C4022661	hp.json		http://purl.obolibrary.org/obo/HP_0030055							
HP:0030056	biolink:PhenotypicFeature	Uncombable hair	Hair that is disorderly, stands out from the scalp, and cannot be combed flat.	UMLS:C1860607	hp.json	Uncombable hair	http://purl.obolibrary.org/obo/HP_0030056							
HP:0030057	biolink:PhenotypicFeature	Autoimmune antibody positivity	The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.	UMLS:C4022660	hp.json		http://purl.obolibrary.org/obo/HP_0030057							
HP:0030058	biolink:PhenotypicFeature	Sickled erythrocytes	An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).	UMLS:C2237347	hp.json		http://purl.obolibrary.org/obo/HP_0030058							
HP:0030059	biolink:PhenotypicFeature	Mitochondrial depletion	An abnormal reduction in mitochondrial DNA content of cells.	UMLS:C4022659	hp.json		http://purl.obolibrary.org/obo/HP_0030059							
HP:0030060	biolink:PhenotypicFeature	Nervous tissue neoplasm	A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).	MSH:D009380|UMLS:C0027665	hp.json		http://purl.obolibrary.org/obo/HP_0030060							
HP:0030061	biolink:PhenotypicFeature	Neuroectodermal neoplasm	A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.	MSH:D017599|SNOMEDCT_US:253096008|SNOMEDCT_US:73676002|UMLS:C0206093	hp.json		http://purl.obolibrary.org/obo/HP_0030061							
HP:0030062	biolink:PhenotypicFeature	Craniopharyngioma	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.	MSH:D003397|SNOMEDCT_US:189179009|SNOMEDCT_US:40009002|UMLS:C0010276	hp.json		http://purl.obolibrary.org/obo/HP_0030062							
HP:0030063	biolink:PhenotypicFeature	Neuroepithelial neoplasm	A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.	MSH:D018302|UMLS:C0206715	hp.json		http://purl.obolibrary.org/obo/HP_0030063							
HP:0030064	biolink:PhenotypicFeature	Neurocytoma	A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.	MSH:D018306|SNOMEDCT_US:128858006|UMLS:C1622510	hp.json		http://purl.obolibrary.org/obo/HP_0030064							
HP:0030065	biolink:PhenotypicFeature	Primitive neuroectodermal tumor	A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.	MSH:D018242|SNOMEDCT_US:39781001|SNOMEDCT_US:55045006|SNOMEDCT_US:699028006|UMLS:C0206663	hp.json	Primitive neuroectodermal tumour	http://purl.obolibrary.org/obo/HP_0030065							
HP:0030066	biolink:PhenotypicFeature	Ependymoblastoma	A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.	MSH:D018242|SNOMEDCT_US:21589007|SNOMEDCT_US:715901002|UMLS:C0700367	hp.json		http://purl.obolibrary.org/obo/HP_0030066							
HP:0030067	biolink:PhenotypicFeature	Peripheral primitive neuroectodermal neoplasm	A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.	MSH:D018241|SNOMEDCT_US:253096008|SNOMEDCT_US:703707001|SNOMEDCT_US:73676002|UMLS:C0684337	hp.json		http://purl.obolibrary.org/obo/HP_0030067							
HP:0030068	biolink:PhenotypicFeature	Olfactory esthesioneuroblastoma	A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.	MSH:D018304|SNOMEDCT_US:422886007|SNOMEDCT_US:68614005|SNOMEDCT_US:76060004|UMLS:C0206717	hp.json		http://purl.obolibrary.org/obo/HP_0030068							
HP:0030069	biolink:PhenotypicFeature	Primary central nervous system lymphoma	A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.	SNOMEDCT_US:21964009|SNOMEDCT_US:307649006|UMLS:C0280803	hp.json	Primary CNS lymphoma	http://purl.obolibrary.org/obo/HP_0030069							
HP:0030070	biolink:PhenotypicFeature	Central primitive neuroectodermal tumor	A primitive neuroectodermal neoplasm that occurs in the central nervous system.	SNOMEDCT_US:39781001|UMLS:C3887678	hp.json	Central primitive neuroectodermal tumour	http://purl.obolibrary.org/obo/HP_0030070							
HP:0030071	biolink:PhenotypicFeature	Medulloepithelioma	A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.	MSH:D018242|SNOMEDCT_US:39005004|SNOMEDCT_US:715903004|UMLS:C0334596	hp.json		http://purl.obolibrary.org/obo/HP_0030071							
HP:0030072	biolink:PhenotypicFeature	Paranasal sinus neoplasm	A tumor that originates in the paranasal sinus.	MSH:D010255|NCIT:C3262|SNOMEDCT_US:126675008|UMLS:C0030470	hp.json	Tumour of the paranasal sinuses|Neoplasm of the paranasal sinuses|Tumor of the paranasal sinuses	http://purl.obolibrary.org/obo/HP_0030072							
HP:0030073	biolink:PhenotypicFeature	obsolete Pharyngeal neoplasm			hp.json		http://purl.obolibrary.org/obo/HP_0030073							
HP:0030074	biolink:PhenotypicFeature	Chemodectoma	A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.	MSH:D002345|SNOMEDCT_US:127028003|SNOMEDCT_US:30699005|UMLS:C0007279	hp.json	Chemodectomas	http://purl.obolibrary.org/obo/HP_0030074							
HP:0030075	biolink:PhenotypicFeature	Ductal carcinoma in situ	Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.	MSH:D002285|SNOMEDCT_US:109889007|SNOMEDCT_US:278053004|SNOMEDCT_US:373176000|SNOMEDCT_US:86616005|UMLS:C0007124	hp.json		http://purl.obolibrary.org/obo/HP_0030075							
HP:0030076	biolink:PhenotypicFeature	Lobular carcinoma in situ		MSH:D000071960|SNOMEDCT_US:109888004|UMLS:C0279563	hp.json		http://purl.obolibrary.org/obo/HP_0030076							
HP:0030077	biolink:PhenotypicFeature	Bronchial neoplasm	A tumor originating in a bronchus.	MSH:D001984|NCIT:C3262|SNOMEDCT_US:126705004|UMLS:C0006264	hp.json		http://purl.obolibrary.org/obo/HP_0030077							
HP:0030078	biolink:PhenotypicFeature	Lung adenocarcinoma		MSH:C538231|NCIT:C2852|SNOMEDCT_US:254626006|UMLS:C0152013	hp.json		http://purl.obolibrary.org/obo/HP_0030078							
HP:0030079	biolink:PhenotypicFeature	Cervix cancer	A tumor of the uterine cervix.	MSH:D002583|NCIT:C3262|SNOMEDCT_US:363354003|UMLS:C4048328	hp.json		http://purl.obolibrary.org/obo/HP_0030079							
HP:0030080	biolink:PhenotypicFeature	Burkitt lymphoma	A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.	MSH:D002051|SNOMEDCT_US:118617000|SNOMEDCT_US:22197008|SNOMEDCT_US:277571004|SNOMEDCT_US:397400006|SNOMEDCT_US:77381001|UMLS:C0006413	hp.json		http://purl.obolibrary.org/obo/HP_0030080							
HP:0030081	biolink:PhenotypicFeature	Punctate periventricular T2 hyperintense foci	Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.	UMLS:C4022658	hp.json		http://purl.obolibrary.org/obo/HP_0030081							
HP:0030082	biolink:PhenotypicFeature	Abnormal drinking behavior	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.	UMLS:C4022657	hp.json	Abnormal drinking behavior|Abnormal drinking behaviour	http://purl.obolibrary.org/obo/HP_0030082							
HP:0030083	biolink:PhenotypicFeature	Salt craving	An excessive desire to eat salt (sodium chloride) or salty foods.	UMLS:C0240928	hp.json	Salt craving	http://purl.obolibrary.org/obo/HP_0030083							
HP:0030084	biolink:PhenotypicFeature	Clinodactyly	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).	SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280304	hp.json	Curvature of digit|Permanent curving of the finger	http://purl.obolibrary.org/obo/HP_0030084							
HP:0030085	biolink:PhenotypicFeature	Abnormal CSF lactate level	Abnormal concentration of lactate in the cerebrospinal fluid.	UMLS:C4022656	hp.json		http://purl.obolibrary.org/obo/HP_0030085							
HP:0030086	biolink:PhenotypicFeature	Reduced CSF lactate	Decreased concentration of lactate in the cerebrospinal fluid.	UMLS:C4022655	hp.json	Hypolactatorachia	http://purl.obolibrary.org/obo/HP_0030086							
HP:0030087	biolink:PhenotypicFeature	Abnormal circulating testosterone concentration	An anomalous concentration of testosterone in the blood.	SNOMEDCT_US:166458009|UMLS:C0580454|UMLS:C4022654	hp.json	Abnormal testosterone level|Abnormal serum testosterone level	http://purl.obolibrary.org/obo/HP_0030087							
HP:0030088	biolink:PhenotypicFeature	Increased serum testosterone level	An elevated circulating testosterone level in the blood.	UMLS:C0241358|UMLS:C4072885	hp.json	Increased testosterone|High serum testosterone level|High serum testosterone levels|Increased serum testosterone levels	http://purl.obolibrary.org/obo/HP_0030088							
HP:0030089	biolink:PhenotypicFeature	Abnormal muscle fiber protein expression	An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.	UMLS:C4022653	hp.json	Abnormal muscle fibre protein expression	http://purl.obolibrary.org/obo/HP_0030089							
HP:0030090	biolink:PhenotypicFeature	Abnormal muscle fiber merosin expression	An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.	UMLS:C4022652	hp.json	Abnormal muscle fibre merosin expression	http://purl.obolibrary.org/obo/HP_0030090							
HP:0030091	biolink:PhenotypicFeature	Absent muscle fiber merosin	Lack of merosin protein in the muscle biopsy.	UMLS:C4021055	hp.json	Absent muscle fibre laminin alpha 2|Absent muscle fibre merosin|Absent merosin staining in muscle biopsy|Absent muscle fiber laminin alpha 2	http://purl.obolibrary.org/obo/HP_0030091							
HP:0030092	biolink:PhenotypicFeature	Reduced muscle fiber merosin	A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.	UMLS:C4022651	hp.json	Reduced muscle fibre merosin	http://purl.obolibrary.org/obo/HP_0030092							
HP:0030093	biolink:PhenotypicFeature	Abnormal muscle fiber laminin beta 1	A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.	UMLS:C4022650	hp.json	Abnormal muscle fibre laminin beta 1	http://purl.obolibrary.org/obo/HP_0030093							
HP:0030094	biolink:PhenotypicFeature	Reduced muscle fiber laminin beta 1	A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.	UMLS:C4022649	hp.json	Reduced muscle fibre laminin beta 1	http://purl.obolibrary.org/obo/HP_0030094							
HP:0030095	biolink:PhenotypicFeature	Reduced muscle collagen VI	A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.	UMLS:C4021054	hp.json	Reduced collagen 6 in muscle	http://purl.obolibrary.org/obo/HP_0030095							
HP:0030096	biolink:PhenotypicFeature	Abnormal muscle fiber dystrophin expression	A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.	UMLS:C4022648	hp.json	Abnormal muscle fibre dystrophin expression	http://purl.obolibrary.org/obo/HP_0030096							
HP:0030097	biolink:PhenotypicFeature	Absent muscle dystrophin expression	Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.	UMLS:C4022647	hp.json		http://purl.obolibrary.org/obo/HP_0030097							
HP:0030098	biolink:PhenotypicFeature	Reduced muscle dystrophin expression	A decreased amount of dystrophin in muscle fiber tissue.	UMLS:C4021053	hp.json	Reduced dystrophin staining in muscle	http://purl.obolibrary.org/obo/HP_0030098							
HP:0030099	biolink:PhenotypicFeature	Reduced muscle fiber alpha dystroglycan	Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.	UMLS:C4022646	hp.json	Reduced muscle fibre alpha dystroglycan	http://purl.obolibrary.org/obo/HP_0030099							
HP:0030100	biolink:PhenotypicFeature	Abnormal muscle fiber alpha sarcoglycan	Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.	UMLS:C4022645	hp.json	Abnormal muscle fibre alpha sarcoglycan	http://purl.obolibrary.org/obo/HP_0030100							
HP:0030101	biolink:PhenotypicFeature	Absent muscle fiber alpha sarcoglycan	Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.	UMLS:C4022644	hp.json	Absent muscle fibre alpha sarcoglycan	http://purl.obolibrary.org/obo/HP_0030101							
HP:0030102	biolink:PhenotypicFeature	Reduced muscle fiber alpha sarcoglycan	A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.	UMLS:C4022643	hp.json	Reduced muscle fibre alpha sarcoglycan	http://purl.obolibrary.org/obo/HP_0030102							
HP:0030103	biolink:PhenotypicFeature	Abnormal muscle fiber beta sarcoglycan	Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.	UMLS:C4022642	hp.json	Abnormal muscle fibre beta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030103							
HP:0030104	biolink:PhenotypicFeature	Abnormal muscle fiber gamma sarcoglycan	Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.	UMLS:C4022641	hp.json	Abnormal muscle fibre gamma sarcoglycan	http://purl.obolibrary.org/obo/HP_0030104							
HP:0030105	biolink:PhenotypicFeature	Abnormal muscle fiber delta sarcoglycan	Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.	UMLS:C4022640	hp.json	Abnormal muscle fibre delta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030105							
HP:0030106	biolink:PhenotypicFeature	Absent muscle fiber beta sarcoglycan	Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.	UMLS:C4022639	hp.json	Absent muscle fibre beta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030106							
HP:0030107	biolink:PhenotypicFeature	Reduced muscle fiber beta sarcoglycan	Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.	UMLS:C4022638	hp.json	Reduced muscle fibre beta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030107							
HP:0030108	biolink:PhenotypicFeature	Reduced muscle fiber gamma sarcoglycan	Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.	UMLS:C4022637	hp.json	Reduced muscle fibre gamma sarcoglycan	http://purl.obolibrary.org/obo/HP_0030108							
HP:0030109	biolink:PhenotypicFeature	Absent muscle fiber gamma sarcoglycan	Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.	UMLS:C4022636	hp.json	Absent muscle fibre gamma sarcoglycan	http://purl.obolibrary.org/obo/HP_0030109							
HP:0030110	biolink:PhenotypicFeature	Absent muscle fiber delta sarcoglycan	Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.	UMLS:C4022635	hp.json	Absent muscle fibre delta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030110							
HP:0030111	biolink:PhenotypicFeature	Reduced muscle fiber delta sarcoglycan	Abnormally reduced amount of delta sarcoglycan in muscle.	UMLS:C4022634	hp.json	Reduced muscle fibre delta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030111							
HP:0030112	biolink:PhenotypicFeature	Abnormal muscle fiber alpha dystroglycan	A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.	UMLS:C4022633	hp.json	Abnormal muscle fibre alpha dystroglycan	http://purl.obolibrary.org/obo/HP_0030112							
HP:0030113	biolink:PhenotypicFeature	Abnormal muscle fiber dysferlin	A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing.	UMLS:C4022632	hp.json	Abnormal muscle fibre dysferlin	http://purl.obolibrary.org/obo/HP_0030113							
HP:0030114	biolink:PhenotypicFeature	Absent muscle fiber dysferlin	Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.	UMLS:C4022631	hp.json	Absent muscle fibre dysferlin	http://purl.obolibrary.org/obo/HP_0030114							
HP:0030115	biolink:PhenotypicFeature	Reduced muscle fiber dysferlin	Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.	UMLS:C4022630	hp.json	Reduced muscle fibre dysferlin	http://purl.obolibrary.org/obo/HP_0030115							
HP:0030116	biolink:PhenotypicFeature	Abnormal muscle fiber emerin	A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.	UMLS:C4022629	hp.json	Abnormal muscle fibre emerin	http://purl.obolibrary.org/obo/HP_0030116							
HP:0030117	biolink:PhenotypicFeature	Absent muscle fiber emerin	Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.	UMLS:C4022628	hp.json	Absent muscle fibre emerin	http://purl.obolibrary.org/obo/HP_0030117							
HP:0030118	biolink:PhenotypicFeature	Reduced muscle fiber emerin	Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.	UMLS:C4022627	hp.json	Reduced muscle fibre emerin	http://purl.obolibrary.org/obo/HP_0030118							
HP:0030119	biolink:PhenotypicFeature	Abnormal muscle fiber calpain-3	A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.	UMLS:C4022626	hp.json	Abnormal muscle fibre calpain-3	http://purl.obolibrary.org/obo/HP_0030119							
HP:0030120	biolink:PhenotypicFeature	Absent muscle fiber calpain-3	Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.	UMLS:C4022625	hp.json	Absent muscle fibre calpain-3	http://purl.obolibrary.org/obo/HP_0030120							
HP:0030121	biolink:PhenotypicFeature	Reduced muscle fiber calpain-3	Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.	UMLS:C4022624	hp.json	Reduced muscle fibre calpain-3	http://purl.obolibrary.org/obo/HP_0030121							
HP:0030122	biolink:PhenotypicFeature	Reduced muscle fiber perlecan	Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).	UMLS:C4022623	hp.json	Reduced muscle fibre perlecan	http://purl.obolibrary.org/obo/HP_0030122							
HP:0030123	biolink:PhenotypicFeature	Abnormal muscle fiber lamin A/C	A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.	UMLS:C4022622	hp.json	Abnormal muscle fibre lamin A/C	http://purl.obolibrary.org/obo/HP_0030123							
HP:0030124	biolink:PhenotypicFeature	Reduced muscle fiber lamin A/C	A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.	UMLS:C4022621	hp.json	Reduced muscle fibre lamin A/C	http://purl.obolibrary.org/obo/HP_0030124							
HP:0030125	biolink:PhenotypicFeature	Sacralization of the fifth lumbar vertebra	A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.	UMLS:C4021052	hp.json	L5 sacralization	http://purl.obolibrary.org/obo/HP_0030125							
HP:0030126	biolink:PhenotypicFeature	Abnormality of the endometrium	An anomaly of the inner mucous membrane of the uterus.	UMLS:C4022620	hp.json		http://purl.obolibrary.org/obo/HP_0030126							
HP:0030127	biolink:PhenotypicFeature	Endometriosis	The growth of endometrial tissue outside the uterus.	MSH:D004715|SNOMEDCT_US:129103003|SNOMEDCT_US:396224008|UMLS:C0014175	hp.json		http://purl.obolibrary.org/obo/HP_0030127							
HP:0030129	biolink:PhenotypicFeature	Impaired ristocetin cofactor assay activity	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.	UMLS:C4022619	hp.json		http://purl.obolibrary.org/obo/HP_0030129							
HP:0030130	biolink:PhenotypicFeature	Impaired von Willibrand factor collagen binding activity	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.	UMLS:C4022618	hp.json		http://purl.obolibrary.org/obo/HP_0030130							
HP:0030131	biolink:PhenotypicFeature	Abnormal von Willebrand factor multimer distribution	Deviation from the normal von Willebrand factor multimer pattern.	UMLS:C4022617	hp.json		http://purl.obolibrary.org/obo/HP_0030131							
HP:0030132	biolink:PhenotypicFeature	Absence of large von Willibrand factor multimers	Absence of large von Willebrand Factor multimers on gel electrophoresis.	UMLS:C4022616	hp.json		http://purl.obolibrary.org/obo/HP_0030132							
HP:0030133	biolink:PhenotypicFeature	Abnormal presence of ultra-large von Willebrand factor multimers	Detection of abnormal ultra-large von Willebrand factor multimers.	UMLS:C4022615	hp.json		http://purl.obolibrary.org/obo/HP_0030133							
HP:0030134	biolink:PhenotypicFeature	Total absence von Willebrand factor multimers	Complete absence of all von Willebrand factor multimers.	UMLS:C4022614	hp.json		http://purl.obolibrary.org/obo/HP_0030134							
HP:0030135	biolink:PhenotypicFeature	Absence of intermediate von Willibrand factor multimers	Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.	UMLS:C4022613	hp.json		http://purl.obolibrary.org/obo/HP_0030135							
HP:0030136	biolink:PhenotypicFeature	Enhanced ristocetin cofactor assay activity	Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.	UMLS:C4022612	hp.json		http://purl.obolibrary.org/obo/HP_0030136							
HP:0030137	biolink:PhenotypicFeature	Prolonged bleeding following circumcision	Bleeding that persists for a longer than usual time following circumcision.	UMLS:C4022611	hp.json	Prolonged bleeding following circumcision	http://purl.obolibrary.org/obo/HP_0030137							
HP:0030138	biolink:PhenotypicFeature	Excessive bleeding from superficial cuts	An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.	UMLS:C4022610	hp.json	Excessive bleeding from superficial cuts	http://purl.obolibrary.org/obo/HP_0030138							
HP:0030139	biolink:PhenotypicFeature	Excessive bleeding after a venipuncture	An abnormal high amount of bleeding following the procedure of taking a blood sample.	UMLS:C4022609	hp.json		http://purl.obolibrary.org/obo/HP_0030139							
HP:0030140	biolink:PhenotypicFeature	Oral cavity bleeding	Recurrent or excessive bleeding from the mouth.	UMLS:C4022608	hp.json	Bleeding from mouth|Oral cavity bleeding|Oral cavity haemorrhage|Oral cavity hemorrhage	http://purl.obolibrary.org/obo/HP_0030140							
HP:0030141	biolink:PhenotypicFeature	Abnormality of the posterior hairline	An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.	UMLS:C4022607	hp.json	Abnormality of hairline at back of head	http://purl.obolibrary.org/obo/HP_0030141							
HP:0030142	biolink:PhenotypicFeature	Abnormal bowel sounds	An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.	SNOMEDCT_US:60612008|UMLS:C0159060	hp.json	Abnormal bowel sounds	http://purl.obolibrary.org/obo/HP_0030142							
HP:0030143	biolink:PhenotypicFeature	Hyperactive bowel sounds	Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.	SNOMEDCT_US:18101008|UMLS:C0232694	hp.json	Increased bowel sounds|Borborygmi	http://purl.obolibrary.org/obo/HP_0030143							
HP:0030144	biolink:PhenotypicFeature	Hypoactive bowel sounds	An decreased amount of bowel sounds.	SNOMEDCT_US:15280003|UMLS:C0232695	hp.json	Decreased bowel sounds	http://purl.obolibrary.org/obo/HP_0030144							
HP:0030145	biolink:PhenotypicFeature	Lack of bowel sounds	Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.	UMLS:C4022606	hp.json	Lack of bowel sounds	http://purl.obolibrary.org/obo/HP_0030145							
HP:0030146	biolink:PhenotypicFeature	Abnormal liver parenchyma morphology	A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.	UMLS:C4022605	hp.json		http://purl.obolibrary.org/obo/HP_0030146							
HP:0030147	biolink:PhenotypicFeature	Truncal titubation	Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.	UMLS:C2674512	hp.json		http://purl.obolibrary.org/obo/HP_0030147							
HP:0030148	biolink:PhenotypicFeature	Heart murmur	An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.	MSH:D006337|SNOMEDCT_US:414786004|SNOMEDCT_US:421493004|SNOMEDCT_US:88610006|UMLS:C0018808	hp.json	Heart murmur|Heart murmurs|Cardiac murmur|Cardiac murmurs	http://purl.obolibrary.org/obo/HP_0030148							
HP:0030149	biolink:PhenotypicFeature	Cardiogenic shock	Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.	MSH:D012770|SNOMEDCT_US:89138009|UMLS:C0036980	hp.json	Cardiovascular shock	http://purl.obolibrary.org/obo/HP_0030149							
HP:0030150	biolink:PhenotypicFeature	Plasmacytosis	An abnormally increased number of plasma cells in tissues, exudates, or blood	UMLS:C0549295	hp.json		http://purl.obolibrary.org/obo/HP_0030150							
HP:0030151	biolink:PhenotypicFeature	Cholangitis	Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.	MSH:D002761|SNOMEDCT_US:82403002|UMLS:C0008311	hp.json	Bile duct inflammation	http://purl.obolibrary.org/obo/HP_0030151							
HP:0030152	biolink:PhenotypicFeature	obsolete Biliary tract neoplasm			hp.json		http://purl.obolibrary.org/obo/HP_0030152							
HP:0030153	biolink:PhenotypicFeature	Cholangiocarcinoma	Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.	MSH:D018281|NCIT:C3262|SNOMEDCT_US:312104005|SNOMEDCT_US:70179006|UMLS:C0206698	hp.json	Bile duct cancer	http://purl.obolibrary.org/obo/HP_0030153							
HP:0030154	biolink:PhenotypicFeature	Gallbladder perforation	Rupture of the wall of the gallbladder.	SNOMEDCT_US:25345001|UMLS:C0156215	hp.json	Gall bladder perforation	http://purl.obolibrary.org/obo/HP_0030154							
HP:0030155	biolink:PhenotypicFeature	Scrotal pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.	SNOMEDCT_US:20502007|UMLS:C0236078	hp.json	Scrotal pain	http://purl.obolibrary.org/obo/HP_0030155							
HP:0030156	biolink:PhenotypicFeature	Bence Jones Proteinuria	The presence of free monoclonal immunoglobulin light chains in the urine.	SNOMEDCT_US:274771005|UMLS:C0004968	hp.json		http://purl.obolibrary.org/obo/HP_0030156							
HP:0030157	biolink:PhenotypicFeature	Flank pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.	MSH:D021501|SNOMEDCT_US:247355005|UMLS:C0016199	hp.json	Kidney pain|Flank pain	http://purl.obolibrary.org/obo/HP_0030157							
HP:0030158	biolink:PhenotypicFeature	Cervical ectropion	Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu	MSH:D002579|SNOMEDCT_US:61253004|SNOMEDCT_US:79342006|UMLS:C0007869|UMLS:C0269189	hp.json	Cervical ectopy|Cervical erosion	http://purl.obolibrary.org/obo/HP_0030158							
HP:0030159	biolink:PhenotypicFeature	Cervical polyp	Abnormal growth of tissue projecting from a mucous membrane of the endocervix.	MSH:D002583|SNOMEDCT_US:123841004|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873	hp.json	Cervical tumor|Cervical tumour	http://purl.obolibrary.org/obo/HP_0030159							
HP:0030160	biolink:PhenotypicFeature	Cervicitis	Inflammation of the uterine cervix.	MSH:D002575|SNOMEDCT_US:37610005|UMLS:C0007860	hp.json	Uterine cervix inflammation|Uterine cervicitis	http://purl.obolibrary.org/obo/HP_0030160							
HP:0030161	biolink:PhenotypicFeature	Vaginal pruritus	A sensation of itching in the vagina.	SNOMEDCT_US:34363003|UMLS:C0042256	hp.json		http://purl.obolibrary.org/obo/HP_0030161							
HP:0030162	biolink:PhenotypicFeature	Glomerulomegaly	Abnormally large size of glomeruli.	UMLS:C4022604	hp.json		http://purl.obolibrary.org/obo/HP_0030162							
HP:0030163	biolink:PhenotypicFeature	Abnormal vascular physiology	Abnormality of vascular function.	UMLS:C4022603	hp.json		http://purl.obolibrary.org/obo/HP_0030163							
HP:0030164	biolink:PhenotypicFeature	Jaw claudication	Pain in the jaw or ear induced by chewing or otherwise moving the jaw.	SNOMEDCT_US:43922008|UMLS:C0239064	hp.json	Jaw pain while chewing	http://purl.obolibrary.org/obo/HP_0030164							
HP:0030165	biolink:PhenotypicFeature	Temporal artery tortuosity	The presence of an increased number of twists and turns of the temporal artery.	UMLS:C4022602	hp.json		http://purl.obolibrary.org/obo/HP_0030165							
HP:0030166	biolink:PhenotypicFeature	Night sweats	Occurrence of excessive sweating during sleep.	SNOMEDCT_US:42984000|UMLS:C0028081	hp.json	Night sweats|Nocturnal hyperhidrosis	http://purl.obolibrary.org/obo/HP_0030166							
HP:0030167	biolink:PhenotypicFeature	Antimitochondrial antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.	UMLS:C4021051	hp.json	Serum antimitochrondrial antibodies	http://purl.obolibrary.org/obo/HP_0030167							
HP:0030168	biolink:PhenotypicFeature	Dilated superficial abdominal veins	Increase in diameter of the veins located underneath the skin of the abdomen.	UMLS:C4021050	hp.json	Dilatation of the superficial abdominal veins	http://purl.obolibrary.org/obo/HP_0030168							
HP:0030169	biolink:PhenotypicFeature	Gastric varix	Extreme dilation of the submucusoal veins in the stomach.	MSH:D004932|SNOMEDCT_US:91109007|UMLS:C0017145	hp.json	Gastric varices	http://purl.obolibrary.org/obo/HP_0030169							
HP:0030170	biolink:PhenotypicFeature	Cystic artery pseudoaneurysm	Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.	UMLS:C4022601	hp.json		http://purl.obolibrary.org/obo/HP_0030170							
HP:0030171	biolink:PhenotypicFeature	Perirenal hematoma	A collection of clotted blood surrounding the kidney.	SNOMEDCT_US:197824007|UMLS:C0473124	hp.json		http://purl.obolibrary.org/obo/HP_0030171							
HP:0030172	biolink:PhenotypicFeature	Peripheral amyelination	Congenital absence of the myelin sheath on a nerve.	UMLS:C4022600	hp.json		http://purl.obolibrary.org/obo/HP_0030172							
HP:0030173	biolink:PhenotypicFeature	Peripheral hypermyelination	Increased amount of peripheral myelination.	UMLS:C4021049	hp.json	Increased peripheral myelination	http://purl.obolibrary.org/obo/HP_0030173							
HP:0030174	biolink:PhenotypicFeature	Increased peripheral myelin thickness	Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.	UMLS:C4022599	hp.json		http://purl.obolibrary.org/obo/HP_0030174							
HP:0030175	biolink:PhenotypicFeature	Myelin tomacula	The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).	UMLS:C4020904	hp.json	Tomacula	http://purl.obolibrary.org/obo/HP_0030175							
HP:0030176	biolink:PhenotypicFeature	Asymmetric peripheral demyelination	Loss of myelin from peripheral nerves in a pattern that differs between right and left.	UMLS:C4022598	hp.json		http://purl.obolibrary.org/obo/HP_0030176							
HP:0030177	biolink:PhenotypicFeature	Abnormality of peripheral nervous system electrophysiology	An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.	UMLS:C0853150	hp.json	Abnormal nerve conduction study	http://purl.obolibrary.org/obo/HP_0030177							
HP:0030178	biolink:PhenotypicFeature	Abnormality of central nervous system electrophysiology		UMLS:C4022597	hp.json	Abnormality of CNS electrophysiology	http://purl.obolibrary.org/obo/HP_0030178							
HP:0030179	biolink:PhenotypicFeature	Abnormal peripheral action potential amplitude	An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.	UMLS:C4022596	hp.json		http://purl.obolibrary.org/obo/HP_0030179							
HP:0030180	biolink:PhenotypicFeature	Oppenheim reflex	Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).	SNOMEDCT_US:414949005|UMLS:C1532837	hp.json	Oppenheim sign	http://purl.obolibrary.org/obo/HP_0030180							
HP:0030181	biolink:PhenotypicFeature	Gordon reflex	Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).	UMLS:C4021048	hp.json	Gordon sign	http://purl.obolibrary.org/obo/HP_0030181							
HP:0030182	biolink:PhenotypicFeature	Tetraplegia/tetraparesis	Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.	UMLS:C4022595	hp.json		http://purl.obolibrary.org/obo/HP_0030182							
HP:0030183	biolink:PhenotypicFeature	Impaired visually enhanced vestibulo-ocular reflex	The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).	UMLS:C4021047	hp.json	VVOR impairment|Visually enhanced vestibulo-ocular reflex impairment	http://purl.obolibrary.org/obo/HP_0030183							
HP:0030185	biolink:PhenotypicFeature	Isometric tremor	An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).	UMLS:C4022594|UMLS:C4280303	hp.json	Dystonia tremor	http://purl.obolibrary.org/obo/HP_0030185							
HP:0030186	biolink:PhenotypicFeature	Kinetic tremor	Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.	MSH:D014202|MSH:D020329|SNOMEDCT_US:30721006|SNOMEDCT_US:609558009|UMLS:C0234376|UMLS:C0270736	hp.json	Essential tremor	http://purl.obolibrary.org/obo/HP_0030186							
HP:0030187	biolink:PhenotypicFeature	Titubation	Nodding movement of the head or body.	SNOMEDCT_US:78691002|UMLS:C0231690	hp.json		http://purl.obolibrary.org/obo/HP_0030187							
HP:0030188	biolink:PhenotypicFeature	Tremor by anatomical site	Tremor classified by the affected body part.	UMLS:C4022593	hp.json	Tremor of a body part	http://purl.obolibrary.org/obo/HP_0030188							
HP:0030190	biolink:PhenotypicFeature	Oral motor hypotonia	Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.	UMLS:C4022592	hp.json		http://purl.obolibrary.org/obo/HP_0030190							
HP:0030191	biolink:PhenotypicFeature	Abnormal peripheral nervous system synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.	UMLS:C4021046	hp.json	Abnormal PNS synaptic transmission	http://purl.obolibrary.org/obo/HP_0030191							
HP:0030192	biolink:PhenotypicFeature	Fatigable weakness of bulbar muscles	A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022591	hp.json		http://purl.obolibrary.org/obo/HP_0030192							
HP:0030193	biolink:PhenotypicFeature	Fatigable weakness of chewing muscles	A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022590	hp.json		http://purl.obolibrary.org/obo/HP_0030193							
HP:0030194	biolink:PhenotypicFeature	Fatigable weakness of speech muscles	A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022589	hp.json		http://purl.obolibrary.org/obo/HP_0030194							
HP:0030195	biolink:PhenotypicFeature	Fatigable weakness of swallowing muscles	A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022588	hp.json		http://purl.obolibrary.org/obo/HP_0030195							
HP:0030196	biolink:PhenotypicFeature	Fatigable weakness of respiratory muscles	A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022587	hp.json		http://purl.obolibrary.org/obo/HP_0030196							
HP:0030197	biolink:PhenotypicFeature	Fatigable weakness of skeletal muscles	A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022586	hp.json		http://purl.obolibrary.org/obo/HP_0030197							
HP:0030198	biolink:PhenotypicFeature	Fatigable weakness of distal limb muscles	A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022585	hp.json		http://purl.obolibrary.org/obo/HP_0030198							
HP:0030199	biolink:PhenotypicFeature	Fatigable weakness of neck muscles	A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022584	hp.json		http://purl.obolibrary.org/obo/HP_0030199							
HP:0030200	biolink:PhenotypicFeature	Fatiguable weakness of proximal limb muscles	A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	UMLS:C4022583	hp.json		http://purl.obolibrary.org/obo/HP_0030200							
HP:0030201	biolink:PhenotypicFeature	Response to drugs acting on neuromuscular transmission	Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.	UMLS:C4022582	hp.json		http://purl.obolibrary.org/obo/HP_0030201							
HP:0030202	biolink:PhenotypicFeature	Favorable response of weakness to acetylcholine esterase inhibitors	Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.	UMLS:C4022581	hp.json	Favourable response of weakness to acetylcholine esterase inhibitors	http://purl.obolibrary.org/obo/HP_0030202							
HP:0030203	biolink:PhenotypicFeature	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.	UMLS:C4022580	hp.json	Unfavourable response of muscle weakness to acetylcholine esterase inhibitors	http://purl.obolibrary.org/obo/HP_0030203							
HP:0030205	biolink:PhenotypicFeature	Increased jitter at single fiber EMG	The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).	UMLS:C4021045	hp.json	Increased jitter at single fibre EMG|Increased jitter at single fibre electromyography	http://purl.obolibrary.org/obo/HP_0030205							
HP:0030206	biolink:PhenotypicFeature	EMG: incremental response of compound muscle action potential to repetitive nerve stimulation	A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.	UMLS:C4022579	hp.json		http://purl.obolibrary.org/obo/HP_0030206							
HP:0030207	biolink:PhenotypicFeature	Paradoxical respiration	Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.	MSH:D005409|SNOMEDCT_US:12025005|SNOMEDCT_US:78011002|UMLS:C0016196|UMLS:C0231852	hp.json	Paradoxical breathing|Flail chest	http://purl.obolibrary.org/obo/HP_0030207							
HP:0030208	biolink:PhenotypicFeature	Acetylcholine receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.	UMLS:C4022578	hp.json		http://purl.obolibrary.org/obo/HP_0030208							
HP:0030209	biolink:PhenotypicFeature	Calcium channel antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.	UMLS:C4022577	hp.json	Ca channel antibody positivity|Ca2+ channel antibody positivity	http://purl.obolibrary.org/obo/HP_0030209							
HP:0030210	biolink:PhenotypicFeature	Muscle specific kinase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).	UMLS:C4021044	hp.json	Anti-MUSK antibodies	http://purl.obolibrary.org/obo/HP_0030210							
HP:0030211	biolink:PhenotypicFeature	Slow pupillary light response	Reduced velocity and acceleration in the pupillary light response.	UMLS:C4022576	hp.json		http://purl.obolibrary.org/obo/HP_0030211							
HP:0030212	biolink:PhenotypicFeature	Collectionism	Excessive or pathological tendency to save and collect possessions.	SNOMEDCT_US:247968005|UMLS:C0424290	hp.json	Compulsive hoarding	http://purl.obolibrary.org/obo/HP_0030212							
HP:0030213	biolink:PhenotypicFeature	Emotional blunting	Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.	SNOMEDCT_US:6140007|UMLS:C0233469	hp.json		http://purl.obolibrary.org/obo/HP_0030213							
HP:0030214	biolink:PhenotypicFeature	Hypersexuality	Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.	SNOMEDCT_US:73744004|UMLS:C0312420|UMLS:C0679145	hp.json	Sex addiction	http://purl.obolibrary.org/obo/HP_0030214							
HP:0030215	biolink:PhenotypicFeature	Inappropriate crying	Uncontrolled episodes of crying, without apparent motivating stimuli.	UMLS:C0860609	hp.json	Inappropriate crying	http://purl.obolibrary.org/obo/HP_0030215							
HP:0030216	biolink:PhenotypicFeature	Inertia	Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).	UMLS:C4022575	hp.json		http://purl.obolibrary.org/obo/HP_0030216							
HP:0030217	biolink:PhenotypicFeature	Limb apraxia	Difficulty in performing the correct execution of limbs movements in absence of motor impairment.	UMLS:C4022574	hp.json		http://purl.obolibrary.org/obo/HP_0030217							
HP:0030218	biolink:PhenotypicFeature	Punding	Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.	UMLS:C1963933	hp.json		http://purl.obolibrary.org/obo/HP_0030218							
HP:0030219	biolink:PhenotypicFeature	Semantic dementia	A progressive loss of the ability to remember the meaning of words, faces and objects.	MSH:D057180|SNOMEDCT_US:230288001|UMLS:C0338462	hp.json	Trouble remembering words	http://purl.obolibrary.org/obo/HP_0030219							
HP:0030220	biolink:PhenotypicFeature	Socially inappropriate behavior	Behavior that is not in line with social norms.	UMLS:C2220010	hp.json	Socially inappropriate behavior|Socially inappropriate behaviour	http://purl.obolibrary.org/obo/HP_0030220							
HP:0030221	biolink:PhenotypicFeature	Sweet craving	Excessive desire to eat sweet foods.	UMLS:C0241314	hp.json	Sweet craving	http://purl.obolibrary.org/obo/HP_0030221							
HP:0030222	biolink:PhenotypicFeature	Visual agnosia	Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.	MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502	hp.json		http://purl.obolibrary.org/obo/HP_0030222							
HP:0030223	biolink:PhenotypicFeature	Perseveration	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.	SNOMEDCT_US:44515000|UMLS:C0233651	hp.json	Perseverative behaviour|Perseverative behavior	http://purl.obolibrary.org/obo/HP_0030223							
HP:0030224	biolink:PhenotypicFeature	Abnormal muscle fiber desmin	A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein.	UMLS:C4022573	hp.json	Abnormal muscle fibre desmin	http://purl.obolibrary.org/obo/HP_0030224							
HP:0030225	biolink:PhenotypicFeature	Accumulation of muscle fiber desmin	Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.	UMLS:C4021043	hp.json	Accumulation of muscle fibre desmin|Muscle fibre desmin-reactive inclusion bodies|Muscle fiber desmin-reactive inclusion bodies	http://purl.obolibrary.org/obo/HP_0030225							
HP:0030226	biolink:PhenotypicFeature	Abnormal muscle fiber myotilin	A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.	UMLS:C4022572	hp.json	Abnormal muscle fibre myotilin	http://purl.obolibrary.org/obo/HP_0030226							
HP:0030227	biolink:PhenotypicFeature	Accumulation of muscle fiber myotilin	Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.	UMLS:C4022571	hp.json	Accumulation of muscle fibre myotilin	http://purl.obolibrary.org/obo/HP_0030227							
HP:0030228	biolink:PhenotypicFeature	Abnormal muscle fiber valosin-containing protein	A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.	UMLS:C4022570	hp.json	Abnormal muscle fibre valosin-containing protein	http://purl.obolibrary.org/obo/HP_0030228							
HP:0030229	biolink:PhenotypicFeature	Accumulation of muscle fiber valosin-containing protein	Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.	UMLS:C4022569	hp.json	Accumulation of muscle fibre valosin-containing protein	http://purl.obolibrary.org/obo/HP_0030229							
HP:0030230	biolink:PhenotypicFeature	Central core regions in muscle fibers	The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.	UMLS:C4022568	hp.json	Central core regions in muscle fibres	http://purl.obolibrary.org/obo/HP_0030230							
HP:0030231	biolink:PhenotypicFeature	Glycogen accumulation in muscle fiber lysosomes	An increased amount of glycogen in muscle tissue found specifically in lysosomes.	UMLS:C4022567	hp.json	Glycogen accumulation in muscle fibre lysosomes	http://purl.obolibrary.org/obo/HP_0030231							
HP:0030232	biolink:PhenotypicFeature	Increased sarcoplasmic glycogen	Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.	UMLS:C4022566	hp.json		http://purl.obolibrary.org/obo/HP_0030232							
HP:0030233	biolink:PhenotypicFeature	Bethlem sign	Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.	UMLS:C4021042	hp.json	Bethlem phenomenon	http://purl.obolibrary.org/obo/HP_0030233							
HP:0030234	biolink:PhenotypicFeature	Highly elevated creatine kinase	An increased CPK level between 4X and 50X above the upper normal level.	UMLS:C4022565	hp.json	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							
HP:0030235	biolink:PhenotypicFeature	Extremely elevated creatine kinase	An increased creatine kinase level more than 50X above the upper normal level.	UMLS:C4022564	hp.json	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							
HP:0030236	biolink:PhenotypicFeature	Abnormality of muscle size	Abnormalities of the overall muscle bulk based on clinical observation.	UMLS:C4022563	hp.json	Abnormality of muscle size	http://purl.obolibrary.org/obo/HP_0030236							
HP:0030237	biolink:PhenotypicFeature	Hand muscle weakness	Reduced strength of the musculature of the hand.	SNOMEDCT_US:298283006|UMLS:C0239831	hp.json	Hand muscle weakness	http://purl.obolibrary.org/obo/HP_0030237							
HP:0030239	biolink:PhenotypicFeature	Hypoplasia of the upper arm musculature	Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.	UMLS:C4022562	hp.json	Underdeveloped upper arm muscles	http://purl.obolibrary.org/obo/HP_0030239							
HP:0030241	biolink:PhenotypicFeature	Hypoplasia of deltoid muscle	Underdevelopment of the deltoid muscle.	UMLS:C1868170	hp.json	Deltoid muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0030241							
HP:0030242	biolink:PhenotypicFeature	Portal vein thrombosis	Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.	SNOMEDCT_US:17920008|UMLS:C0155773	hp.json	Blood clot in portal vein	http://purl.obolibrary.org/obo/HP_0030242							
HP:0030243	biolink:PhenotypicFeature	Hepatic vein thrombosis	An obstruction in the veins of the liver caused by a blood clot (thrombosis).	MSH:D006502|SNOMEDCT_US:38739001|UMLS:C0019154	hp.json	Blood clot in liver vein|Hepatic venous thrombosis	http://purl.obolibrary.org/obo/HP_0030243							
HP:0030244	biolink:PhenotypicFeature	Maternal fever in pregnancy	The occurence of an elevated body temperature of the mother during pregnancy.	UMLS:C4021041	hp.json	Maternal fever during pregnancy	http://purl.obolibrary.org/obo/HP_0030244							
HP:0030245	biolink:PhenotypicFeature	Intrapartum fever	The occurence of maternal fever during labor.	UMLS:C3829514	hp.json	Maternal fever during labor|Maternal fever during labour	http://purl.obolibrary.org/obo/HP_0030245							
HP:0030246	biolink:PhenotypicFeature	Maternal first trimester fever	The occurence of fever in a mother during the first trimester of pregnancy.	UMLS:C4022561	hp.json		http://purl.obolibrary.org/obo/HP_0030246							
HP:0030247	biolink:PhenotypicFeature	Splanchnic vein thrombosis	The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).	UMLS:C4022560	hp.json	Blood clot in splanchnic vein	http://purl.obolibrary.org/obo/HP_0030247							
HP:0030248	biolink:PhenotypicFeature	Mesenteric venous thrombosis	A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).	MSH:D065666|SNOMEDCT_US:95446005|UMLS:C0267412	hp.json	Blood clot in mesentertic vein	http://purl.obolibrary.org/obo/HP_0030248							
HP:0030249	biolink:PhenotypicFeature	Enanthema	A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.	SNOMEDCT_US:5862001|UMLS:C0014034	hp.json		http://purl.obolibrary.org/obo/HP_0030249							
HP:0030250	biolink:PhenotypicFeature	Pulmonary granulomatosis	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.	UMLS:C0856628	hp.json		http://purl.obolibrary.org/obo/HP_0030250							
HP:0030251	biolink:PhenotypicFeature	Absence of memory B cells	Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.	UMLS:C4022559	hp.json		http://purl.obolibrary.org/obo/HP_0030251							
HP:0030252	biolink:PhenotypicFeature	Absent circulating B cells	Complete lack of mature B cells, that is, of B cells that have left the bone marrow.	UMLS:C4022558	hp.json	Absence of mature B cells	http://purl.obolibrary.org/obo/HP_0030252							
HP:0030253	biolink:PhenotypicFeature	Defective T cell proliferation	A reduced ability of a T cell population to expand by cell division following T cell activation.	UMLS:C4022557	hp.json		http://purl.obolibrary.org/obo/HP_0030253							
HP:0030254	biolink:PhenotypicFeature	Nail bed hemorrhage	Small areas of bleeding (hemorrhage) under the fingernail or toenail.	UMLS:C0877087	hp.json	Nail bed haemorrhage	http://purl.obolibrary.org/obo/HP_0030254							
HP:0030255	biolink:PhenotypicFeature	Large intestinal polyposis	The presence of multiple polyps in the large intestine.	UMLS:C4022556	hp.json		http://purl.obolibrary.org/obo/HP_0030255							
HP:0030256	biolink:PhenotypicFeature	Small intestinal polyposis	The presence of multiple polyps in the small intestine.	UMLS:C4022555	hp.json		http://purl.obolibrary.org/obo/HP_0030256							
HP:0030257	biolink:PhenotypicFeature	Freckled genitalia	One or more brown punctate macules on the skin of the genitalia.	UMLS:C4021040	hp.json	Freckled genitalia|Genitalia, ephelides	http://purl.obolibrary.org/obo/HP_0030257							
HP:0030258	biolink:PhenotypicFeature	Hyperpigmented genitalia	Localized or generalized increased genital pigmentation.	UMLS:C4020713|UMLS:C4022554	hp.json	Increased genital pigmentation|Penile melanosis	http://purl.obolibrary.org/obo/HP_0030258							
HP:0030259	biolink:PhenotypicFeature	Hypopigmented genitalia	Localized or generalized decreased genital pigmentation.	UMLS:C4022553	hp.json	Decreased genital pigmentation	http://purl.obolibrary.org/obo/HP_0030259							
HP:0030260	biolink:PhenotypicFeature	Microphallus	Length of penis more than 2 SD below the mean for age accompanied by hypospadias.	SNOMEDCT_US:276333003|UMLS:C0240701	hp.json		http://purl.obolibrary.org/obo/HP_0030260							
HP:0030261	biolink:PhenotypicFeature	Absent penis	Lack of recognizable penile structures.	SNOMEDCT_US:204908001|SNOMEDCT_US:59981001|UMLS:C0555231	hp.json	Absent penis|Aphallia|Aplasia of the penis|Penis aplasia	http://purl.obolibrary.org/obo/HP_0030261							
HP:0030262	biolink:PhenotypicFeature	Narrow penis	Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.	UMLS:C4022552	hp.json	Narrow penis	http://purl.obolibrary.org/obo/HP_0030262							
HP:0030263	biolink:PhenotypicFeature	Torsion of the penis	Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.	UMLS:C1407019	hp.json		http://purl.obolibrary.org/obo/HP_0030263							
HP:0030264	biolink:PhenotypicFeature	Webbed penis	Ventral skinfold extending from penis to scrotum.	SNOMEDCT_US:253852007|UMLS:C0431670	hp.json	Webbed penis	http://purl.obolibrary.org/obo/HP_0030264							
HP:0030265	biolink:PhenotypicFeature	Wide penis	Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.	UMLS:C4022551	hp.json	Wide penis	http://purl.obolibrary.org/obo/HP_0030265							
HP:0030266	biolink:PhenotypicFeature	obsolete Abnormality of the sacroiliac notch			hp.json		http://purl.obolibrary.org/obo/HP_0030266							
HP:0030267	biolink:PhenotypicFeature	Calcification of the interosseus membrane of the forearm	Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.	UMLS:C4022549	hp.json		http://purl.obolibrary.org/obo/HP_0030267							
HP:0030268	biolink:PhenotypicFeature	Hyperplastic callus formation	Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.	UMLS:C4022548	hp.json		http://purl.obolibrary.org/obo/HP_0030268							
HP:0030269	biolink:PhenotypicFeature	Increased serum insulin-like growth factor 1	An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.	UMLS:C2676198	hp.json	Elevated serum IGF1|Increased serum IGF1|Increased serum insulin-like growth factor 1	http://purl.obolibrary.org/obo/HP_0030269							
HP:0030270	biolink:PhenotypicFeature	Elevated red cell adenosine deaminase level	Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.	UMLS:C4022547	hp.json		http://purl.obolibrary.org/obo/HP_0030270							
HP:0030271	biolink:PhenotypicFeature	Reduced erythrocyte 2,3-diphosphoglycerate concentration	This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.	UMLS:C4022546	hp.json		http://purl.obolibrary.org/obo/HP_0030271							
HP:0030272	biolink:PhenotypicFeature	Abnormal erythrocyte enzyme level	An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.	UMLS:C4022545	hp.json		http://purl.obolibrary.org/obo/HP_0030272							
HP:0030273	biolink:PhenotypicFeature	Reduced red cell adenosine deaminase level	Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.	UMLS:C4022544	hp.json		http://purl.obolibrary.org/obo/HP_0030273							
HP:0030274	biolink:PhenotypicFeature	Accessory scrotum	Additional scrotum, or part of a scrotum in an abnormal location.	UMLS:C4022543	hp.json	Extra scrotum	http://purl.obolibrary.org/obo/HP_0030274							
HP:0030275	biolink:PhenotypicFeature	Ectopic scrotum	Scrotum in a position other than the usual position inferior to the base of the penis.	UMLS:C4022542	hp.json	Abnormal scrotum position	http://purl.obolibrary.org/obo/HP_0030275							
HP:0030276	biolink:PhenotypicFeature	Small scrotum	Apparently small scrotum for age.	SNOMEDCT_US:204912007|UMLS:C0431659	hp.json	Small scrotum|Underdeveloped scrotum	http://purl.obolibrary.org/obo/HP_0030276							
HP:0030277	biolink:PhenotypicFeature	Abnormal vertebral pedicle morphology	Abnormal morphology of a vertebral pedical.	UMLS:C4022541	hp.json		http://purl.obolibrary.org/obo/HP_0030277							
HP:0030278	biolink:PhenotypicFeature	Hypoplastic vertebral pedicle	Underdeveloped vertebral pedicle.	UMLS:C4022540	hp.json		http://purl.obolibrary.org/obo/HP_0030278							
HP:0030279	biolink:PhenotypicFeature	Hypoplastic L5 vertebral pedicle	Underdeveloped pedicle of the fifth lumbar vertebra.	UMLS:C4022539	hp.json		http://purl.obolibrary.org/obo/HP_0030279							
HP:0030280	biolink:PhenotypicFeature	Rib gap	Radiolucent focal defect of a rib shaft.	SNOMEDCT_US:249705009|UMLS:C0426827	hp.json	Rib gap	http://purl.obolibrary.org/obo/HP_0030280							
HP:0030281	biolink:PhenotypicFeature	Cervical C3/C4 vertebral fusion	Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.	UMLS:C4022538	hp.json		http://purl.obolibrary.org/obo/HP_0030281							
HP:0030282	biolink:PhenotypicFeature	Posterior rib gap	Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.	UMLS:C1842696	hp.json	Dorsal rib defect	http://purl.obolibrary.org/obo/HP_0030282							
HP:0030283	biolink:PhenotypicFeature	Partial absence of the septum pellucidum	Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.	SNOMEDCT_US:422474003|UMLS:C1827299	hp.json		http://purl.obolibrary.org/obo/HP_0030283							
HP:0030284	biolink:PhenotypicFeature	Triangular tongue	A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.	UMLS:C4022537	hp.json	Triangle shaped tongue|Triangular tongue	http://purl.obolibrary.org/obo/HP_0030284							
HP:0030285	biolink:PhenotypicFeature	Splayed superior cerebellar peduncle	Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.	UMLS:C4022536	hp.json		http://purl.obolibrary.org/obo/HP_0030285							
HP:0030286	biolink:PhenotypicFeature	Atrophic superior cerebellar peduncle	Atrophy of the superior cerebellar peduncle.	UMLS:C4022535	hp.json		http://purl.obolibrary.org/obo/HP_0030286							
HP:0030289	biolink:PhenotypicFeature	Flattened femoral epiphysis	An abnormal flattening of an epiphysis of femur.	UMLS:C1850642	hp.json	Flattended end part of thigh bone	http://purl.obolibrary.org/obo/HP_0030289							
HP:0030290	biolink:PhenotypicFeature	Unossified sacrum	Lack of ossification of the sacrum.	UMLS:C2675562	hp.json	Absence of sacrum ossification	http://purl.obolibrary.org/obo/HP_0030290							
HP:0030291	biolink:PhenotypicFeature	Lower-limb metaphyseal irregularity	Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.	UMLS:C4022534	hp.json		http://purl.obolibrary.org/obo/HP_0030291							
HP:0030292	biolink:PhenotypicFeature	Tibial metaphyseal irregularity	Irregularity of the normally smooth surface of a metaphysis of a tibia.	UMLS:C4022533	hp.json		http://purl.obolibrary.org/obo/HP_0030292							
HP:0030293	biolink:PhenotypicFeature	Fibular metaphyseal irregularity	Irregularity of the normally smooth surface of a metaphysis of a fibula.	UMLS:C4022532	hp.json	Irregularity of wide portion of calf bone	http://purl.obolibrary.org/obo/HP_0030293							
HP:0030294	biolink:PhenotypicFeature	Metaphyseal chondromatosis of tibia		UMLS:C4022531	hp.json		http://purl.obolibrary.org/obo/HP_0030294							
HP:0030295	biolink:PhenotypicFeature	Metaphyseal chondromatosis of femur		UMLS:C4022530	hp.json		http://purl.obolibrary.org/obo/HP_0030295							
HP:0030296	biolink:PhenotypicFeature	Metaphyseal chondromatosis of radius		UMLS:C4022529	hp.json		http://purl.obolibrary.org/obo/HP_0030296							
HP:0030297	biolink:PhenotypicFeature	Metaphyseal chondromatosis of ulna		UMLS:C4022528	hp.json		http://purl.obolibrary.org/obo/HP_0030297							
HP:0030298	biolink:PhenotypicFeature	Metaphyseal chondromatosis of humerus		UMLS:C4021860	hp.json		http://purl.obolibrary.org/obo/HP_0030298							
HP:0030299	biolink:PhenotypicFeature	Distal femoral metaphyseal abnormality	An anomaly of the metaphysis of the distal femur (close to the knee).	UMLS:C4022527	hp.json	Abnormality of wide portion of outermost thighbone	http://purl.obolibrary.org/obo/HP_0030299							
HP:0030300	biolink:PhenotypicFeature	10 pairs of ribs	Presence of only 10 (instead of the usual 12) pairs of ribs.	UMLS:C4022526	hp.json	10 pairs of ribs	http://purl.obolibrary.org/obo/HP_0030300							
HP:0030301	biolink:PhenotypicFeature	Abnormality of the anterior commissure	An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.	UMLS:C4022525	hp.json		http://purl.obolibrary.org/obo/HP_0030301							
HP:0030302	biolink:PhenotypicFeature	Agenesis of the anterior commissure	Absence of the anterior commissure.	UMLS:C1851087	hp.json		http://purl.obolibrary.org/obo/HP_0030302							
HP:0030303	biolink:PhenotypicFeature	Hypoplastic anterior commissure	Underdevelopment of the anterior commissure.	UMLS:C4022524	hp.json		http://purl.obolibrary.org/obo/HP_0030303							
HP:0030304	biolink:PhenotypicFeature	Abnormal number of vertebrae	A deviation from the normal number of vertebrae in the spinal column.	UMLS:C4022523	hp.json		http://purl.obolibrary.org/obo/HP_0030304							
HP:0030305	biolink:PhenotypicFeature	Decreased number of vertebrae		UMLS:C4022522	hp.json		http://purl.obolibrary.org/obo/HP_0030305							
HP:0030306	biolink:PhenotypicFeature	11 thoracic vertebrae	The presence of 11 instead of the normal 12 thoracic vertebrae.	UMLS:C4022521	hp.json		http://purl.obolibrary.org/obo/HP_0030306							
HP:0030307	biolink:PhenotypicFeature	Flared lower limb metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.	UMLS:C4022520	hp.json	Flared metaphysis of lower limb bone	http://purl.obolibrary.org/obo/HP_0030307							
HP:0030308	biolink:PhenotypicFeature	Flared distal tibial metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.	UMLS:C4022519	hp.json	Flared outermost metaphysis of shankbone|Flared outermost metaphysis of shinbone	http://purl.obolibrary.org/obo/HP_0030308							
HP:0030309	biolink:PhenotypicFeature	Flared distal fibular metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.	UMLS:C4022518	hp.json	Flared outermost wide portion of of calf bone	http://purl.obolibrary.org/obo/HP_0030309							
HP:0030310	biolink:PhenotypicFeature	Upper extremity joint dislocation	Displacement or malalignment of one or more joints in the upper extremity (arm).	UMLS:C4022517	hp.json	Dislocated arm joints	http://purl.obolibrary.org/obo/HP_0030310							
HP:0030311	biolink:PhenotypicFeature	Lower extremity joint dislocation	Displacement or malalignment of one or more joints in the lower extremity (leg).	UMLS:C4022516	hp.json	Dislocated leg joints	http://purl.obolibrary.org/obo/HP_0030311							
HP:0030312	biolink:PhenotypicFeature	Obliteration of the calvarial diploe	Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).	UMLS:C1860855	hp.json	Obliteration of cranial cancellous bone	http://purl.obolibrary.org/obo/HP_0030312							
HP:0030313	biolink:PhenotypicFeature	Abnormal periosteum morphology	An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.	UMLS:C4022515	hp.json		http://purl.obolibrary.org/obo/HP_0030313							
HP:0030314	biolink:PhenotypicFeature	Periostosis	Abnormal deposition of periosteal bone.	UMLS:C1409412	hp.json		http://purl.obolibrary.org/obo/HP_0030314							
HP:0030318	biolink:PhenotypicFeature	Angular cheilitis	A type of inflammation of the lips involving one or both of the corners of the mouth.	SNOMEDCT_US:266429005|UMLS:C0221237	hp.json	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							
HP:0030319	biolink:PhenotypicFeature	Weakness of facial musculature	Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	UMLS:C4022514	hp.json	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							
HP:0030320	biolink:PhenotypicFeature	Increased intervertebral space	An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.	UMLS:C4022513	hp.json		http://purl.obolibrary.org/obo/HP_0030320							
HP:0030321	biolink:PhenotypicFeature	Abnormal vertebral artery morphology	An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.	UMLS:C4022512	hp.json	Abnormality of the vertebral artery	http://purl.obolibrary.org/obo/HP_0030321							
HP:0030322	biolink:PhenotypicFeature	Vertebral artery hypoplasia	Underdevelopment of the vertebral artery.	UMLS:C1868737	hp.json		http://purl.obolibrary.org/obo/HP_0030322							
HP:0030323	biolink:PhenotypicFeature	Unilateral vertebral artery hypoplasia	Underdevelopment of the vertebral artery on one side.	UMLS:C3279090	hp.json		http://purl.obolibrary.org/obo/HP_0030323							
HP:0030324	biolink:PhenotypicFeature	Bilateral vertebral artery hypoplasia	Underdevelopment of the vertebral artery on both sides.	UMLS:C4022511	hp.json		http://purl.obolibrary.org/obo/HP_0030324							
HP:0030325	biolink:PhenotypicFeature	Cervicomedullary schisis	Fissure within the spinal cord of the neck.	UMLS:C4022510	hp.json		http://purl.obolibrary.org/obo/HP_0030325							
HP:0030326	biolink:PhenotypicFeature	Abnormal macrophage count	An anomaly in the number of macrophages.	UMLS:C4022509	hp.json		http://purl.obolibrary.org/obo/HP_0030326							
HP:0030327	biolink:PhenotypicFeature	Abnormal osteoclast count	An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.	UMLS:C4022508	hp.json		http://purl.obolibrary.org/obo/HP_0030327							
HP:0030328	biolink:PhenotypicFeature	Decreased osteoclast count	Decreased number of osteoclasts.	UMLS:C4022507	hp.json		http://purl.obolibrary.org/obo/HP_0030328							
HP:0030329	biolink:PhenotypicFeature	Retinal thinning	Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).	UMLS:C3549703	hp.json	Retinal thinning	http://purl.obolibrary.org/obo/HP_0030329							
HP:0030330	biolink:PhenotypicFeature	Multinucleated giant chondrocytes in epiphyseal cartilage	The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.	UMLS:C4022506	hp.json		http://purl.obolibrary.org/obo/HP_0030330							
HP:0030331	biolink:PhenotypicFeature	Impaired stimulus-induced skin wrinkling	A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).	UMLS:C4022505	hp.json		http://purl.obolibrary.org/obo/HP_0030331							
HP:0030332	biolink:PhenotypicFeature	obsolete Abnormal T cell morphology			hp.json		http://purl.obolibrary.org/obo/HP_0030332							
HP:0030333	biolink:PhenotypicFeature	Abnormal alpha-beta T cell morphology	A structuraly anomaly of T cells that express an alpha-beta T cell receptor.	UMLS:C4022503	hp.json		http://purl.obolibrary.org/obo/HP_0030333							
HP:0030334	biolink:PhenotypicFeature	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology	A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.	UMLS:C4022502	hp.json		http://purl.obolibrary.org/obo/HP_0030334							
HP:0030335	biolink:PhenotypicFeature	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count	A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.	UMLS:C4021859	hp.json		http://purl.obolibrary.org/obo/HP_0030335							
HP:0030336	biolink:PhenotypicFeature	Absence of CD4-positive, CD25-positive regulatory T cells	Lack of CD4+CD25+ T regulatory cells.	UMLS:C4021039	hp.json	Absence of CD4+CD25+ T regulatory cells|Absence of CD4+CD25+ Tregs	http://purl.obolibrary.org/obo/HP_0030336							
HP:0030337	biolink:PhenotypicFeature	Elevated CD4-positive, CD25-positive regulatory T cell count	An increased number of CD4-positive, CD25-positive regulatory T cells.	UMLS:C4022501	hp.json		http://purl.obolibrary.org/obo/HP_0030337							
HP:0030338	biolink:PhenotypicFeature	Abnormal circulating gonadotropin concentration	An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).	UMLS:C4072886	hp.json	Abnormal circulating gonadotropin level	http://purl.obolibrary.org/obo/HP_0030338							
HP:0030339	biolink:PhenotypicFeature	Decreased circulating gonadotropin concentration	A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).	UMLS:C4072887	hp.json	Decreased circulating gonadotropin level	http://purl.obolibrary.org/obo/HP_0030339							
HP:0030340	biolink:PhenotypicFeature	obsolete Increased circulating gonadotropin level			hp.json		http://purl.obolibrary.org/obo/HP_0030340							
HP:0030341	biolink:PhenotypicFeature	Decreased circulating follicle stimulating hormone concentration	A reduction of the circulating level of follicle-stimulating hormone (FSH).	UMLS:C4072889	hp.json	Decreased circulating follicle stimulating hormone level	http://purl.obolibrary.org/obo/HP_0030341							
HP:0030344	biolink:PhenotypicFeature	Decreased circulating luteinizing hormone level	A reduction in the circulating level of luteinizing hormone (LH).	UMLS:C4072890	hp.json	Decreased circulating luteinising hormone level	http://purl.obolibrary.org/obo/HP_0030344							
HP:0030345	biolink:PhenotypicFeature	Abnormal circulating luteinizing hormone concentration	An anomaly of the circulating level of luteinizing hormone (LH).	SNOMEDCT_US:166374003|UMLS:C0580438	hp.json	Abnormal circulating luteinizing hormone level|Abnormal luteinizing hormone level|Increased circulating lutropin	http://purl.obolibrary.org/obo/HP_0030345							
HP:0030346	biolink:PhenotypicFeature	Abnormal circulating follicle-stimulating hormone concentration	An anomaly of the circulating level of follicle-stimulating hormone (FSH).	UMLS:C4072891	hp.json	Abnormal circulating follicle-stimulating hormone level	http://purl.obolibrary.org/obo/HP_0030346							
HP:0030347	biolink:PhenotypicFeature	Abnormal circulating androgen level	An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	UMLS:C4072892	hp.json		http://purl.obolibrary.org/obo/HP_0030347							
HP:0030348	biolink:PhenotypicFeature	Increased circulating androgen concentration	An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	UMLS:C4072893	hp.json	Increased circulating androgen level	http://purl.obolibrary.org/obo/HP_0030348							
HP:0030349	biolink:PhenotypicFeature	Decreased circulating androgen concentration	A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	UMLS:C4072894	hp.json	Decreased circulating androgen level	http://purl.obolibrary.org/obo/HP_0030349							
HP:0030350	biolink:PhenotypicFeature	Erythematous papule	A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.	UMLS:C0747241	hp.json	Red-blue papule	http://purl.obolibrary.org/obo/HP_0030350							
HP:0030351	biolink:PhenotypicFeature	Urticarial plaque	A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.	UMLS:C4072895	hp.json		http://purl.obolibrary.org/obo/HP_0030351							
HP:0030352	biolink:PhenotypicFeature	Abnormal serum insulin-like growth factor 1 level	An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.	UMLS:C4072896	hp.json		http://purl.obolibrary.org/obo/HP_0030352							
HP:0030353	biolink:PhenotypicFeature	Decreased serum insulin-like growth factor 1	A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.	UMLS:C4072897	hp.json		http://purl.obolibrary.org/obo/HP_0030353							
HP:0030354	biolink:PhenotypicFeature	Abnormal serum interferon level	Abnormal levels of interferon in the blood.	UMLS:C4072898	hp.json		http://purl.obolibrary.org/obo/HP_0030354							
HP:0030355	biolink:PhenotypicFeature	Abnormal serum interferon-gamma level	Abnormal levels of interferon gamma measured in the blood circulation.	UMLS:C4072899	hp.json		http://purl.obolibrary.org/obo/HP_0030355							
HP:0030356	biolink:PhenotypicFeature	Increased serum interferon-gamma level	An elevation in the concentration of interferon gamma measured in the blood circulation.	UMLS:C4072900	hp.json		http://purl.obolibrary.org/obo/HP_0030356							
HP:0030357	biolink:PhenotypicFeature	Small cell lung carcinoma	Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.	MSH:D055752|SNOMEDCT_US:254632001|SNOMEDCT_US:254633006|UMLS:C0149925	hp.json	Oat cell carcinoma of lung|Oat cell lung cancer|Small cell lung cancer	http://purl.obolibrary.org/obo/HP_0030357							
HP:0030358	biolink:PhenotypicFeature	Non-small cell lung carcinoma		MSH:D002289|SNOMEDCT_US:254637007|UMLS:C0007131	hp.json	Non-small cell lung cancer	http://purl.obolibrary.org/obo/HP_0030358							
HP:0030359	biolink:PhenotypicFeature	Squamous cell lung carcinoma	A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.	SNOMEDCT_US:254634000|UMLS:C0149782	hp.json		http://purl.obolibrary.org/obo/HP_0030359							
HP:0030360	biolink:PhenotypicFeature	Large cell lung carcinoma	A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.	SNOMEDCT_US:254629004|UMLS:C0345958	hp.json		http://purl.obolibrary.org/obo/HP_0030360							
HP:0030361	biolink:PhenotypicFeature	Abnormal circulating eicosanoid concentration	Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).	UMLS:C4072901	hp.json	Abnormality of icosanoid metabolism	http://purl.obolibrary.org/obo/HP_0030361							
HP:0030362	biolink:PhenotypicFeature	Reduced muscle carnitine level	A reduction in the level of carnitine in muscle tissue.	UMLS:C4072902	hp.json		http://purl.obolibrary.org/obo/HP_0030362							
HP:0030363	biolink:PhenotypicFeature	Primary Caesarian section	Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.	UMLS:C4072903	hp.json		http://purl.obolibrary.org/obo/HP_0030363							
HP:0030364	biolink:PhenotypicFeature	Secondary Caesarian section	Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.	UMLS:C4072904	hp.json		http://purl.obolibrary.org/obo/HP_0030364							
HP:0030365	biolink:PhenotypicFeature	Vaginal birth after Caesarian	Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.	MSH:D016064|UMLS:C0080301	hp.json		http://purl.obolibrary.org/obo/HP_0030365							
HP:0030366	biolink:PhenotypicFeature	Delivery by Odon device	The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.	UMLS:C4072905	hp.json		http://purl.obolibrary.org/obo/HP_0030366							
HP:0030367	biolink:PhenotypicFeature	Finger hyperphalangy	Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.	UMLS:C4072906	hp.json		http://purl.obolibrary.org/obo/HP_0030367							
HP:0030368	biolink:PhenotypicFeature	Hyperphalangy of the 2nd finger	An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.	UMLS:C4072907	hp.json	Hyperphalangy of index finger	http://purl.obolibrary.org/obo/HP_0030368							
HP:0030369	biolink:PhenotypicFeature	Induced vaginal delivery	Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.	UMLS:C4072908	hp.json		http://purl.obolibrary.org/obo/HP_0030369							
HP:0030370	biolink:PhenotypicFeature	Abnormal proportion of naive B cells	A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.	UMLS:C4072909	hp.json		http://purl.obolibrary.org/obo/HP_0030370							
HP:0030371	biolink:PhenotypicFeature	Increased proportion of naive B cells	An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.	UMLS:C4072910	hp.json		http://purl.obolibrary.org/obo/HP_0030371							
HP:0030372	biolink:PhenotypicFeature	Decreased proportion of naive B cells	A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.	UMLS:C4072911	hp.json		http://purl.obolibrary.org/obo/HP_0030372							
HP:0030373	biolink:PhenotypicFeature	Abnormal proportion of memory B cells	A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).	UMLS:C4072912	hp.json		http://purl.obolibrary.org/obo/HP_0030373							
HP:0030374	biolink:PhenotypicFeature	Decreased proportion of memory B cells	A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).	UMLS:C4072913	hp.json		http://purl.obolibrary.org/obo/HP_0030374							
HP:0030375	biolink:PhenotypicFeature	Increased proportion of memory B cells	An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).	UMLS:C4072914	hp.json		http://purl.obolibrary.org/obo/HP_0030375							
HP:0030376	biolink:PhenotypicFeature	Abnormal proportion of immature B cells	A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).	UMLS:C4072915	hp.json	Abnormal proportion of CD19+/CD21low B cells	http://purl.obolibrary.org/obo/HP_0030376							
HP:0030377	biolink:PhenotypicFeature	Increased proportion of immature B cells	An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).	UMLS:C4072916	hp.json	Increased proportion of CD19+/CD21low B cells	http://purl.obolibrary.org/obo/HP_0030377							
HP:0030378	biolink:PhenotypicFeature	Decreased proportion of immature B cells	A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).	UMLS:C4072917	hp.json	Decreased proportion of CD19+/CD21low B cells	http://purl.obolibrary.org/obo/HP_0030378							
HP:0030379	biolink:PhenotypicFeature	Abnormal proportion of transitional B cells	A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.	UMLS:C4072918	hp.json	Abnormal proportion of CD19+CD38+IgM+ cells	http://purl.obolibrary.org/obo/HP_0030379							
HP:0030380	biolink:PhenotypicFeature	Decreased proportion of transitional B cells	A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.	UMLS:C4072919	hp.json	Decreased proportion of CD19+CD38+IgM+ cells	http://purl.obolibrary.org/obo/HP_0030380							
HP:0030381	biolink:PhenotypicFeature	Increased proportion of transitional B cells	An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.	UMLS:C4072920	hp.json	Increased proportion of CD19+CD38+IgM+ cells	http://purl.obolibrary.org/obo/HP_0030381							
HP:0030383	biolink:PhenotypicFeature	Abnormal proportion of marginal zone B cells	A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.	UMLS:C4072921	hp.json		http://purl.obolibrary.org/obo/HP_0030383							
HP:0030384	biolink:PhenotypicFeature	Decreased proportion of marginal zone B cells	A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.	UMLS:C4072922	hp.json		http://purl.obolibrary.org/obo/HP_0030384							
HP:0030385	biolink:PhenotypicFeature	Increased proportion of marginal zone B cells	An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.	UMLS:C4072923	hp.json		http://purl.obolibrary.org/obo/HP_0030385							
HP:0030386	biolink:PhenotypicFeature	Abnormal proportion of class-switched memory B cells	A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.	UMLS:C4072924	hp.json	Abnormal proportion of CD19+CD27+IgD- cells	http://purl.obolibrary.org/obo/HP_0030386							
HP:0030387	biolink:PhenotypicFeature	Increased proportion of class-switched memory B cells	An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.	UMLS:C4073288	hp.json	Increased proportion of CD19+CD27+IgD- cells	http://purl.obolibrary.org/obo/HP_0030387							
HP:0030388	biolink:PhenotypicFeature	Decreased proportion of class-switched memory B cells	A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.	UMLS:C4072925	hp.json	Decreased proportion of CD19+CD27+IgD- cells	http://purl.obolibrary.org/obo/HP_0030388							
HP:0030389	biolink:PhenotypicFeature	Abnormal circulating thromboxane concentration	Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.	UMLS:C4072926	hp.json		http://purl.obolibrary.org/obo/HP_0030389							
HP:0030390	biolink:PhenotypicFeature	Reduced circulating leukotriene C4 concentration	An abnormally decreased concentration of leukotriene C4 in the blood circulation.	UMLS:C4072927	hp.json		http://purl.obolibrary.org/obo/HP_0030390							
HP:0030391	biolink:PhenotypicFeature	Spoken word recognition deficit	Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.	UMLS:C4072928	hp.json		http://purl.obolibrary.org/obo/HP_0030391							
HP:0030392	biolink:PhenotypicFeature	Choroid plexus carcinoma	Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.	MSH:C562943|SNOMEDCT_US:88252006|UMLS:C0431109	hp.json		http://purl.obolibrary.org/obo/HP_0030392							
HP:0030393	biolink:PhenotypicFeature	Endolymphatic sac tumor	A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).	SNOMEDCT_US:699817008|UMLS:C2348239	hp.json	Aggressive papillary middle ear tumour|Endolymphatic sac tumour|Heffner tumour|Aggressive papillary middle ear tumor|Heffner tumor|Low-grade adenocarcinoma of endolymphatic sac origin	http://purl.obolibrary.org/obo/HP_0030393							
HP:0030394	biolink:PhenotypicFeature	Fallopian tube carcinoma	Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.	MSH:D005185|SNOMEDCT_US:276870001|UMLS:C0238122	hp.json		http://purl.obolibrary.org/obo/HP_0030394							
HP:0030396	biolink:PhenotypicFeature	Abnormal platelet granule secretion	Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.	UMLS:C4072929	hp.json		http://purl.obolibrary.org/obo/HP_0030396							
HP:0030397	biolink:PhenotypicFeature	Abnormal platelet dense granule secretion	Abnormal release of dense granules from platelets.	UMLS:C4072930	hp.json		http://purl.obolibrary.org/obo/HP_0030397							
HP:0030398	biolink:PhenotypicFeature	Abnormal platelet ATP dense granule secretion	Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).	UMLS:C4072931	hp.json		http://purl.obolibrary.org/obo/HP_0030398							
HP:0030399	biolink:PhenotypicFeature	Abnormal platelet alpha granule secretion	Abnormal release of alpha granule contents from platelets.	UMLS:C4072932	hp.json		http://purl.obolibrary.org/obo/HP_0030399							
HP:0030400	biolink:PhenotypicFeature	Abnormal platelet lysosome secretion	Abnormal release of lysosome contents from platelets.	UMLS:C4072933	hp.json		http://purl.obolibrary.org/obo/HP_0030400							
HP:0030401	biolink:PhenotypicFeature	Abnormal platelet dense granule ATP/ADP ratio	Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.	UMLS:C4072934	hp.json		http://purl.obolibrary.org/obo/HP_0030401							
HP:0030402	biolink:PhenotypicFeature	Abnormal platelet aggregation	An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.	UMLS:C0541767	hp.json		http://purl.obolibrary.org/obo/HP_0030402							
HP:0030403	biolink:PhenotypicFeature	Spontaneous platelet aggregation	Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.	MSH:C566800|UMLS:C1868263	hp.json		http://purl.obolibrary.org/obo/HP_0030403							
HP:0030404	biolink:PhenotypicFeature	Glucagonoma	An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.	MSH:D005935|SNOMEDCT_US:128855009|SNOMEDCT_US:16424000|SNOMEDCT_US:302823005|UMLS:C0017689	hp.json		http://purl.obolibrary.org/obo/HP_0030404							
HP:0030405	biolink:PhenotypicFeature	Pancreatic endocrine tumor	A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.	MSH:D007516|SNOMEDCT_US:126864006|SNOMEDCT_US:128878003|SNOMEDCT_US:237596009|SNOMEDCT_US:399528006|SNOMEDCT_US:76345009|UMLS:C0242363	hp.json	Pancreatic endocrine tumour	http://purl.obolibrary.org/obo/HP_0030405							
HP:0030406	biolink:PhenotypicFeature	Primary peritoneal carcinoma	A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.	UMLS:C1514428	hp.json		http://purl.obolibrary.org/obo/HP_0030406							
HP:0030407	biolink:PhenotypicFeature	Pineocytoma	A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).	MSH:D010871|NCIT:C6966|SNOMEDCT_US:255045009|SNOMEDCT_US:89096009|UMLS:C0917890	hp.json		http://purl.obolibrary.org/obo/HP_0030407							
HP:0030408	biolink:PhenotypicFeature	Pineoblastoma	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.	MSH:D010871|SNOMEDCT_US:31671006|UMLS:C0205898	hp.json	Pinealoblastoma	http://purl.obolibrary.org/obo/HP_0030408							
HP:0030409	biolink:PhenotypicFeature	Renal transitional cell carcinoma	A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.	SNOMEDCT_US:408642003|UMLS:C1319314	hp.json	Renal urothelial carcinoma|Transitional renal cell carcinoma|renal TCC	http://purl.obolibrary.org/obo/HP_0030409							
HP:0030410	biolink:PhenotypicFeature	Sebaceous gland carcinoma	A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)	MSH:D018266|SNOMEDCT_US:307599002|SNOMEDCT_US:54734006|UMLS:C0206684	hp.json	Sebaceous carcinoma	http://purl.obolibrary.org/obo/HP_0030410							
HP:0030411	biolink:PhenotypicFeature	Jejunal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the jejunum.	NCIT:C2852|UMLS:C4072935	hp.json		http://purl.obolibrary.org/obo/HP_0030411							
HP:0030412	biolink:PhenotypicFeature	Ileal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the ileum.	NCIT:C2852|UMLS:C4072936	hp.json		http://purl.obolibrary.org/obo/HP_0030412							
HP:0030413	biolink:PhenotypicFeature	Squamous cell carcinoma of the tongue	A carcinoma derived from a squamous epithelial cell of the tongue.	SNOMEDCT_US:276952000|UMLS:C0349566	hp.json		http://purl.obolibrary.org/obo/HP_0030413							
HP:0030414	biolink:PhenotypicFeature	Verrucous cell carcinoma of the tongue	A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.	UMLS:C4072937	hp.json		http://purl.obolibrary.org/obo/HP_0030414							
HP:0030415	biolink:PhenotypicFeature	Sarcomatoid carcinoma of the tongue	Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.	UMLS:C2018408	hp.json	Spindle cell carcinoma of the tongue	http://purl.obolibrary.org/obo/HP_0030415							
HP:0030416	biolink:PhenotypicFeature	Vulvar neoplasm	A tumor (abnormal growth of tissue) of the female external genital tract (vulva).	MSH:D014846|NCIT:C3262|SNOMEDCT_US:126922007|UMLS:C0042995	hp.json	Tumor of the vulva|Tumour of the vulva|Neoplasm of the vulva	http://purl.obolibrary.org/obo/HP_0030416							
HP:0030417	biolink:PhenotypicFeature	Squamous cell carcinoma of the vulva	A cancer that originates in the squamous cells that line the surface of the vulva.	SNOMEDCT_US:254895003|UMLS:C0280856	hp.json	Vulval squamous cell carcinoma	http://purl.obolibrary.org/obo/HP_0030417							
HP:0030418	biolink:PhenotypicFeature	Vulvar melanoma	A type of vulvar cancer that originates from melanocytes of the vulva.	SNOMEDCT_US:254896002|UMLS:C0241989	hp.json		http://purl.obolibrary.org/obo/HP_0030418							
HP:0030419	biolink:PhenotypicFeature	Bartholin gland carcinoma	A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.	SNOMEDCT_US:276876007|SNOMEDCT_US:399533005|UMLS:C0349561	hp.json		http://purl.obolibrary.org/obo/HP_0030419							
HP:0030420	biolink:PhenotypicFeature	Vulvar adenocarcinoma	An adenocarcinoma arising in the vulva.	UMLS:C1336975	hp.json		http://purl.obolibrary.org/obo/HP_0030420							
HP:0030421	biolink:PhenotypicFeature	Epididymal neoplasm	A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.	NCIT:C3262|SNOMEDCT_US:126902008|UMLS:C0346239	hp.json		http://purl.obolibrary.org/obo/HP_0030421							
HP:0030422	biolink:PhenotypicFeature	obsolete Papillary cystadenoma of the epididymis			hp.json		http://purl.obolibrary.org/obo/HP_0030422							
HP:0030423	biolink:PhenotypicFeature	Splenic cyst	A closed sac located in the spleen.	SNOMEDCT_US:79040006|UMLS:C0272407	hp.json	Cyst on spleen	http://purl.obolibrary.org/obo/HP_0030423							
HP:0030424	biolink:PhenotypicFeature	Epididymal cyst	A smooth, extratesticular, spherical cyst in the head of the epididymis.	MSH:D013088|SNOMEDCT_US:43077002|SNOMEDCT_US:49263001|UMLS:C0037859	hp.json	Epididymal cysts	http://purl.obolibrary.org/obo/HP_0030424							
HP:0030425	biolink:PhenotypicFeature	Calcified ovarian cyst	A cyst of the ovary that exhibits deposition of calcium salts.	UMLS:C4072939	hp.json		http://purl.obolibrary.org/obo/HP_0030425							
HP:0030426	biolink:PhenotypicFeature	Ossifying fibroma	A benign central bone tumor composed of fibrous connective tissue within which bone is formed.	MSH:D018214|SNOMEDCT_US:25603007|SNOMEDCT_US:302862001|SNOMEDCT_US:302863006|SNOMEDCT_US:80699009|UMLS:C0206640	hp.json		http://purl.obolibrary.org/obo/HP_0030426							
HP:0030427	biolink:PhenotypicFeature	Ossifying fibroma of the jaw	A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.	UMLS:C4072940	hp.json		http://purl.obolibrary.org/obo/HP_0030427							
HP:0030428	biolink:PhenotypicFeature	Cutaneous myxoma	A myxoma originating in the skin.	NCIT:C6577|UMLS:C1333178	hp.json		http://purl.obolibrary.org/obo/HP_0030428							
HP:0030429	biolink:PhenotypicFeature	Juvenile nasopharyngeal angiofibroma	A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.	SNOMEDCT_US:60392001|SNOMEDCT_US:716590006|UMLS:C1367536	hp.json		http://purl.obolibrary.org/obo/HP_0030429							
HP:0030430	biolink:PhenotypicFeature	Neuroma	A tumor made up of nerve cells and nerve fibers.	MSH:D009463|SNOMEDCT_US:25169009|SNOMEDCT_US:274089002|SNOMEDCT_US:443892003|SNOMEDCT_US:84116009|UMLS:C0027858|UMLS:C0273482	hp.json	Nerve tumor|Pinched nerve|Nerve tumour	http://purl.obolibrary.org/obo/HP_0030430							
HP:0030431	biolink:PhenotypicFeature	Osteochondroma	A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.	MSH:D015831|SNOMEDCT_US:307573009|SNOMEDCT_US:443093007|SNOMEDCT_US:52299001|UMLS:C0029423	hp.json	Osteocartilaginous exostoses|Osteochondromas	http://purl.obolibrary.org/obo/HP_0030431							
HP:0030432	biolink:PhenotypicFeature	Chondroblastoma	A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.	MSH:D002804|SNOMEDCT_US:9001003|UMLS:C0008441	hp.json		http://purl.obolibrary.org/obo/HP_0030432							
HP:0030433	biolink:PhenotypicFeature	Osteoid osteoma	A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.	MSH:D010017|SNOMEDCT_US:302859004|SNOMEDCT_US:71666005|UMLS:C0029441	hp.json		http://purl.obolibrary.org/obo/HP_0030433							
HP:0030434	biolink:PhenotypicFeature	Pilomatrixoma	Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.	MSH:D018296|SNOMEDCT_US:274901004|SNOMEDCT_US:44155009|UMLS:C0206711	hp.json		http://purl.obolibrary.org/obo/HP_0030434							
HP:0030436	biolink:PhenotypicFeature	Fibrofolliculoma	Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.	SNOMEDCT_US:128683008|SNOMEDCT_US:254699007|UMLS:C0346011	hp.json	Fibrofolliculomas	http://purl.obolibrary.org/obo/HP_0030436							
HP:0030437	biolink:PhenotypicFeature	Anal canal neoplasm		NCIT:C3262|SNOMEDCT_US:126850006|UMLS:C0345883	hp.json	Anal canal tumor|Anal canal tumour	http://purl.obolibrary.org/obo/HP_0030437							
HP:0030438	biolink:PhenotypicFeature	Anal canal squamous cell carcinoma	A squamous cell carcinoma that originates in the anal canal.	UMLS:C1332262	hp.json		http://purl.obolibrary.org/obo/HP_0030438							
HP:0030439	biolink:PhenotypicFeature	Anal canal adenocarcinoma	An adenoma carcinoma that originates in the anal canal.	NCIT:C2852|UMLS:C1332259	hp.json		http://purl.obolibrary.org/obo/HP_0030439							
HP:0030440	biolink:PhenotypicFeature	Anal margin neoplasm	A tumor of the anal margin.	UMLS:C2064234	hp.json		http://purl.obolibrary.org/obo/HP_0030440							
HP:0030441	biolink:PhenotypicFeature	Anal margin Paget's disease	An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.	UMLS:C1332270	hp.json		http://purl.obolibrary.org/obo/HP_0030441							
HP:0030442	biolink:PhenotypicFeature	Anal margin squamous cell carcinoma	A squamous cell carcinoma that originates in the skin of the anal margin.	SNOMEDCT_US:255084004|UMLS:C1412037	hp.json		http://purl.obolibrary.org/obo/HP_0030442							
HP:0030443	biolink:PhenotypicFeature	Anal margin basal cell carcinoma	A basal cell carcinoma that originates in the anal margin.	UMLS:C1332269	hp.json		http://purl.obolibrary.org/obo/HP_0030443							
HP:0030444	biolink:PhenotypicFeature	Anal margin melanoma	A melanoma that originates in the anal margin.	UMLS:C4072941	hp.json		http://purl.obolibrary.org/obo/HP_0030444							
HP:0030445	biolink:PhenotypicFeature	Pulmonary carcinoid tumor	A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.	SNOMEDCT_US:254627002|UMLS:C0280089	hp.json	Lung carcinoid tumour|Pulmonary carcinoid tumour|Lung carcinoid tumor	http://purl.obolibrary.org/obo/HP_0030445							
HP:0030446	biolink:PhenotypicFeature	Atypical pulmonary carcinoid tumor		UMLS:C4072942	hp.json	Atypical pulmonary carcinoid tumour	http://purl.obolibrary.org/obo/HP_0030446							
HP:0030447	biolink:PhenotypicFeature	Merkel cell skin cancer	A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.	MSH:D015266|SNOMEDCT_US:253001006|SNOMEDCT_US:254729005|SNOMEDCT_US:5052009|UMLS:C0007129	hp.json	Neuroendocrine tumour of the skin|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							
HP:0030448	biolink:PhenotypicFeature	Soft tissue sarcoma	A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.	MSH:D012509|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424413001|SNOMEDCT_US:424952003|UMLS:C1261473	hp.json	Soft tissue sarcomas	http://purl.obolibrary.org/obo/HP_0030448							
HP:0030449	biolink:PhenotypicFeature	Therapeutic abortion	Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.	MSH:D000032|SNOMEDCT_US:386641000|UMLS:C0000820	hp.json		http://purl.obolibrary.org/obo/HP_0030449							
HP:0030450	biolink:PhenotypicFeature	Neuroplasm of the autonomic nervous system	A tumor that arises from an element of the autonomic nervous system.	NCIT:C5112|UMLS:C4072943	hp.json		http://purl.obolibrary.org/obo/HP_0030450							
HP:0030451	biolink:PhenotypicFeature	Mesenteric cyst	A closed fluid filled sac originating from the mesentary.	MSH:D008639|SNOMEDCT_US:253802003|SNOMEDCT_US:27970007|UMLS:C0025467	hp.json		http://purl.obolibrary.org/obo/HP_0030451							
HP:0030452	biolink:PhenotypicFeature	Chylolymphatic mesenteric cyst	A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.	UMLS:C4072944	hp.json		http://purl.obolibrary.org/obo/HP_0030452							
HP:0030453	biolink:PhenotypicFeature	Abnormal visual electrophysiology		UMLS:C4072945	hp.json		http://purl.obolibrary.org/obo/HP_0030453							
HP:0030454	biolink:PhenotypicFeature	Abnormal electrooculogram	The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.	SNOMEDCT_US:442770004|UMLS:C0159104	hp.json	Abnormal EOG	http://purl.obolibrary.org/obo/HP_0030454							
HP:0030455	biolink:PhenotypicFeature	Abnormality of pattern visual evoked potentials		UMLS:C4072946	hp.json		http://purl.obolibrary.org/obo/HP_0030455							
HP:0030456	biolink:PhenotypicFeature	Abnormality of pattern onset/offset visual evoked potentials		UMLS:C4072947	hp.json	Abnormality of pattern onset/offset VEP	http://purl.obolibrary.org/obo/HP_0030456							
HP:0030457	biolink:PhenotypicFeature	Abnormal amplitude of pattern onset/offset visual evoked potentials		UMLS:C4072948	hp.json	Abnormal amplitude of pattern onset/offset VEP	http://purl.obolibrary.org/obo/HP_0030457							
HP:0030458	biolink:PhenotypicFeature	Abnormal timing of pattern onset/offset visual evoked potentials		UMLS:C4072949	hp.json		http://purl.obolibrary.org/obo/HP_0030458							
HP:0030460	biolink:PhenotypicFeature	Abnormal timing of pattern reversal visual evoked potentials		UMLS:C4072950	hp.json		http://purl.obolibrary.org/obo/HP_0030460							
HP:0030461	biolink:PhenotypicFeature	Abnormal timing of flash visual evoked potentials		UMLS:C4072951	hp.json		http://purl.obolibrary.org/obo/HP_0030461							
HP:0030462	biolink:PhenotypicFeature	Abnormal amplitude of flash visual evoked potentials		UMLS:C4072952	hp.json		http://purl.obolibrary.org/obo/HP_0030462							
HP:0030463	biolink:PhenotypicFeature	Asymmetrical distribution of flash visual evoked potentials		UMLS:C4072953	hp.json	Crossed asymmetry of flash visual evoked potentials	http://purl.obolibrary.org/obo/HP_0030463							
HP:0030464	biolink:PhenotypicFeature	Asymmetrical distribution of pattern reversal visual evoked potentials		UMLS:C4072954	hp.json	Crossed asymmetry of pattern reversal visual evoked potentials	http://purl.obolibrary.org/obo/HP_0030464							
HP:0030465	biolink:PhenotypicFeature	Undetectable light-adapted electroretinogram	No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.	UMLS:C4072955	hp.json	Absent photopic (cone) responses on ERG|non-detectable photopic ERG	http://purl.obolibrary.org/obo/HP_0030465							
HP:0030466	biolink:PhenotypicFeature	Abnormal full-field electroretinogram		UMLS:C4072956	hp.json		http://purl.obolibrary.org/obo/HP_0030466							
HP:0030467	biolink:PhenotypicFeature	Abnormal pattern electroretinogram	An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.	UMLS:C4072957	hp.json		http://purl.obolibrary.org/obo/HP_0030467							
HP:0030468	biolink:PhenotypicFeature	Abnormal multifocal electroretinogram		UMLS:C4072958	hp.json		http://purl.obolibrary.org/obo/HP_0030468							
HP:0030469	biolink:PhenotypicFeature	Abnormal dark-adapted electroretinogram		UMLS:C4072959	hp.json		http://purl.obolibrary.org/obo/HP_0030469							
HP:0030470	biolink:PhenotypicFeature	Abnormal dark-adapted bright flash electroretinogram		UMLS:C4072960	hp.json		http://purl.obolibrary.org/obo/HP_0030470							
HP:0030471	biolink:PhenotypicFeature	Abnormal dark-adapted dim flash electroretinogram		UMLS:C4072961	hp.json		http://purl.obolibrary.org/obo/HP_0030471							
HP:0030472	biolink:PhenotypicFeature	Abnormal light-adapted single flash electroretinogram		UMLS:C4072962	hp.json		http://purl.obolibrary.org/obo/HP_0030472							
HP:0030473	biolink:PhenotypicFeature	Abnormal light-adapted flicker electroretinogram		UMLS:C4072963	hp.json	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	biolink:PhenotypicFeature	Undetectable dark-adapted electroretinogram		UMLS:C4072964	hp.json		http://purl.obolibrary.org/obo/HP_0030474							
HP:0030475	biolink:PhenotypicFeature	Abnormal timing of dark-adapted dim flash electroretinogram		UMLS:C4072965	hp.json		http://purl.obolibrary.org/obo/HP_0030475							
HP:0030476	biolink:PhenotypicFeature	Abnormal amplitude of dark-adapted dim flash electroretinogram		UMLS:C4072966	hp.json		http://purl.obolibrary.org/obo/HP_0030476							
HP:0030477	biolink:PhenotypicFeature	Abnormal timing of dark-adapted bright flash electroretinogram		UMLS:C4072967	hp.json		http://purl.obolibrary.org/obo/HP_0030477							
HP:0030478	biolink:PhenotypicFeature	Abnormal amplitude of dark-adapted bright flash electroretinogram		UMLS:C4072968	hp.json		http://purl.obolibrary.org/obo/HP_0030478							
HP:0030479	biolink:PhenotypicFeature	Abnormal amplitude of light-adapted flicker electroretinogram		UMLS:C4072969	hp.json		http://purl.obolibrary.org/obo/HP_0030479							
HP:0030480	biolink:PhenotypicFeature	Abnormal timing of light-adapted flicker electroretinogram		UMLS:C4072970	hp.json		http://purl.obolibrary.org/obo/HP_0030480							
HP:0030481	biolink:PhenotypicFeature	Abnormal amplitude of light-adapted single flash electroretinogram		UMLS:C4072971	hp.json		http://purl.obolibrary.org/obo/HP_0030481							
HP:0030482	biolink:PhenotypicFeature	Abnormal timing of light-adapted single flash electroretinogram		UMLS:C4072972	hp.json		http://purl.obolibrary.org/obo/HP_0030482							
HP:0030483	biolink:PhenotypicFeature	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	An abnormal reduction in the amplitude of the a-wave.	UMLS:C4072973	hp.json		http://purl.obolibrary.org/obo/HP_0030483							
HP:0030484	biolink:PhenotypicFeature	Supernormal dark-adapted bright flash electroretinogram b-wave		UMLS:C4072974	hp.json		http://purl.obolibrary.org/obo/HP_0030484							
HP:0030485	biolink:PhenotypicFeature	Abnormal amplitude of pattern electroretinogram		UMLS:C4072975	hp.json		http://purl.obolibrary.org/obo/HP_0030485							
HP:0030486	biolink:PhenotypicFeature	Abnormal timing of pattern electroretinogram		UMLS:C4072976	hp.json		http://purl.obolibrary.org/obo/HP_0030486							
HP:0030487	biolink:PhenotypicFeature	Abnormal P50/N95 ratio of pattern electroretinogram		UMLS:C4072977	hp.json		http://purl.obolibrary.org/obo/HP_0030487							
HP:0030488	biolink:PhenotypicFeature	Abnormal central response of multifocal electroretinogram		UMLS:C4072978	hp.json		http://purl.obolibrary.org/obo/HP_0030488							
HP:0030489	biolink:PhenotypicFeature	Abnormal paracentral response of multifocal electroretinogram		UMLS:C4072979	hp.json		http://purl.obolibrary.org/obo/HP_0030489							
HP:0030490	biolink:PhenotypicFeature	Exudative vitreoretinopathy		UMLS:C4072980	hp.json		http://purl.obolibrary.org/obo/HP_0030490							
HP:0030491	biolink:PhenotypicFeature	Choriocapillaris atrophy	Atrophy of the capillary lamina of choroid.	UMLS:C3275758	hp.json		http://purl.obolibrary.org/obo/HP_0030491							
HP:0030493	biolink:PhenotypicFeature	Abnormality of foveal pigmentation	An anomaly of the pigmentation in the fovea centralis.	UMLS:C4072981	hp.json		http://purl.obolibrary.org/obo/HP_0030493							
HP:0030494	biolink:PhenotypicFeature	Macular microaneurysm/hemorrhage	Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).	UMLS:C4072982	hp.json		http://purl.obolibrary.org/obo/HP_0030494							
HP:0030495	biolink:PhenotypicFeature	Abnormality morphology of the macular vasculature	Any structural anomaly of the blood vessels of the macula.	UMLS:C4072983	hp.json	Abnormality of macular vasculature	http://purl.obolibrary.org/obo/HP_0030495							
HP:0030496	biolink:PhenotypicFeature	Macular exudate	Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.	UMLS:C4072984	hp.json	Macular exudates|Macular exudation	http://purl.obolibrary.org/obo/HP_0030496							
HP:0030497	biolink:PhenotypicFeature	Macular cotton wool spot	Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.	UMLS:C4072985	hp.json		http://purl.obolibrary.org/obo/HP_0030497							
HP:0030498	biolink:PhenotypicFeature	Macular thickening	Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.	UMLS:C4072986	hp.json		http://purl.obolibrary.org/obo/HP_0030498							
HP:0030499	biolink:PhenotypicFeature	Macular drusen	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.	SNOMEDCT_US:247154004|UMLS:C0677628	hp.json	Lipid accumulation in macula	http://purl.obolibrary.org/obo/HP_0030499							
HP:0030500	biolink:PhenotypicFeature	Yellow/white lesions of the macula		UMLS:C4072987	hp.json		http://purl.obolibrary.org/obo/HP_0030500							
HP:0030501	biolink:PhenotypicFeature	Macular crystals	Crystalline deposits in the macula.	UMLS:C4072988	hp.json		http://purl.obolibrary.org/obo/HP_0030501							
HP:0030502	biolink:PhenotypicFeature	Retinoschisis	Splitting of the neuroretinal layers of the retina.	MSH:D041441|SNOMEDCT_US:44268007|UMLS:C0152439	hp.json		http://purl.obolibrary.org/obo/HP_0030502							
HP:0030503	biolink:PhenotypicFeature	Macular telangiectasia		SNOMEDCT_US:232024000|UMLS:C0339480	hp.json	Juxtafoveal telangiectasia|Parafoveal telangiectasia	http://purl.obolibrary.org/obo/HP_0030503							
HP:0030504	biolink:PhenotypicFeature	Grouped congenital hypertrophy of retinal pigment epithelium		UMLS:C4072989	hp.json	Bear track congenital hypertrophy of retinal pigment epithelium	http://purl.obolibrary.org/obo/HP_0030504							
HP:0030505	biolink:PhenotypicFeature	Nummular pigmentation of the fundus	Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.	UMLS:C4072990	hp.json	Nummular pigmentation of the retina	http://purl.obolibrary.org/obo/HP_0030505							
HP:0030506	biolink:PhenotypicFeature	Yellow/white lesions of the retina		UMLS:C4072991	hp.json		http://purl.obolibrary.org/obo/HP_0030506							
HP:0030507	biolink:PhenotypicFeature	Retinal crystals	Crystalline deposits in the retina.	UMLS:C4072992	hp.json		http://purl.obolibrary.org/obo/HP_0030507							
HP:0030508	biolink:PhenotypicFeature	Retinal cavernous hemangioma		SNOMEDCT_US:312937006|UMLS:C0730304	hp.json	Retinal cavernous haemangioma	http://purl.obolibrary.org/obo/HP_0030508							
HP:0030509	biolink:PhenotypicFeature	Retinal racemose hemangioma		UMLS:C4072993	hp.json	Retinal racemose haemangioma	http://purl.obolibrary.org/obo/HP_0030509							
HP:0030510	biolink:PhenotypicFeature	Combined hamartoma of the retinal pigment epithelium and retina		UMLS:C1862062	hp.json		http://purl.obolibrary.org/obo/HP_0030510							
HP:0030511	biolink:PhenotypicFeature	Bradyopsia	Difficulty in seeing moving objects.	MSH:C564243|SNOMEDCT_US:711163009|UMLS:C1842073	hp.json	Difficulty seeing moving objects	http://purl.obolibrary.org/obo/HP_0030511							
HP:0030512	biolink:PhenotypicFeature	Difficulty adjusting to changes in luminance		UMLS:C4072994	hp.json		http://purl.obolibrary.org/obo/HP_0030512							
HP:0030513	biolink:PhenotypicFeature	Difficulty adjusting from light to dark		UMLS:C4072995	hp.json		http://purl.obolibrary.org/obo/HP_0030513							
HP:0030514	biolink:PhenotypicFeature	Difficulty adjusting from dark to light		UMLS:C4072996	hp.json		http://purl.obolibrary.org/obo/HP_0030514							
HP:0030515	biolink:PhenotypicFeature	Moderately reduced visual acuity	Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).	SNOMEDCT_US:397542006|UMLS:C1301510	hp.json	Moderate visual impairment|Moderate reduction in visual acuity|Moderate vision loss|Moderate visual loss	http://purl.obolibrary.org/obo/HP_0030515							
HP:0030516	biolink:PhenotypicFeature	Homonymous hemianopia		MSH:D006423|SNOMEDCT_US:34063005|UMLS:C0271202	hp.json	Homonymous hemianopsia	http://purl.obolibrary.org/obo/HP_0030516							
HP:0030517	biolink:PhenotypicFeature	Heteronymous hemianopia		SNOMEDCT_US:344104004|SNOMEDCT_US:345121001|UMLS:C0271207	hp.json	Heteronymous hemianopsia	http://purl.obolibrary.org/obo/HP_0030517							
HP:0030518	biolink:PhenotypicFeature	Congruous homonymous hemianopia		UMLS:C4072997	hp.json	Congruous hemianopsia	http://purl.obolibrary.org/obo/HP_0030518							
HP:0030519	biolink:PhenotypicFeature	Congruous heteronymous hemianopia		UMLS:C4072998	hp.json		http://purl.obolibrary.org/obo/HP_0030519							
HP:0030520	biolink:PhenotypicFeature	Binasal hemianopia		MSH:D006423|SNOMEDCT_US:87278000|UMLS:C0271208	hp.json		http://purl.obolibrary.org/obo/HP_0030520							
HP:0030521	biolink:PhenotypicFeature	Bitemporal hemianopia		MSH:D006423|SNOMEDCT_US:61917005|UMLS:C0221184	hp.json		http://purl.obolibrary.org/obo/HP_0030521							
HP:0030522	biolink:PhenotypicFeature	Mild constriction of peripheral visual field	A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.	UMLS:C4072999	hp.json	Mild peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030522							
HP:0030523	biolink:PhenotypicFeature	obsolete Peripheral visual field constriction with 40-50 degrees central field preserved			hp.json		http://purl.obolibrary.org/obo/HP_0030523							
HP:0030524	biolink:PhenotypicFeature	obsolete Peripheral visual field constriction with 30-39 degrees central field preserved			hp.json		http://purl.obolibrary.org/obo/HP_0030524							
HP:0030525	biolink:PhenotypicFeature	Moderate constriction of peripheral visual field	Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.	UMLS:C4073002	hp.json	Moderate peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030525							
HP:0030526	biolink:PhenotypicFeature	Severe constriction of peripheral visual field	Peripheral visual field constriction with 10-19 degrees central field preserved.	UMLS:C4073003	hp.json	Severe peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030526							
HP:0030527	biolink:PhenotypicFeature	Very severe constriction of peripheral visual field	Peripheral visual field constriction with <10 degrees central field preserved.	UMLS:C4073004	hp.json	Very severe peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030527							
HP:0030528	biolink:PhenotypicFeature	Paracentral scotoma		MSH:D012607|SNOMEDCT_US:64418005|UMLS:C0271197	hp.json		http://purl.obolibrary.org/obo/HP_0030528							
HP:0030529	biolink:PhenotypicFeature	Ring scotoma		MSH:D012607|SNOMEDCT_US:129625005|UMLS:C0438434	hp.json		http://purl.obolibrary.org/obo/HP_0030529							
HP:0030530	biolink:PhenotypicFeature	Arcuate scotoma		MSH:D012607|SNOMEDCT_US:15462009|UMLS:C0271198|UMLS:C4280302	hp.json	Arc-shaped blind spot	http://purl.obolibrary.org/obo/HP_0030530							
HP:0030531	biolink:PhenotypicFeature	Altitudinal visual field defect		UMLS:C4073005	hp.json		http://purl.obolibrary.org/obo/HP_0030531							
HP:0030532	biolink:PhenotypicFeature	Visual acuity test abnormality		UMLS:C4073006	hp.json		http://purl.obolibrary.org/obo/HP_0030532							
HP:0030533	biolink:PhenotypicFeature	Abnormal unaided visual acuity test		UMLS:C4073007	hp.json		http://purl.obolibrary.org/obo/HP_0030533							
HP:0030534	biolink:PhenotypicFeature	Abnormal best corrected visual acuity test		UMLS:C4073008	hp.json		http://purl.obolibrary.org/obo/HP_0030534							
HP:0030535	biolink:PhenotypicFeature	Abnormal pinhole visual acuity test		UMLS:C4073009	hp.json		http://purl.obolibrary.org/obo/HP_0030535							
HP:0030536	biolink:PhenotypicFeature	Unaided visual acuity 0.1 LogMAR		UMLS:C4073010	hp.json		http://purl.obolibrary.org/obo/HP_0030536							
HP:0030537	biolink:PhenotypicFeature	Unaided visual acuity 0.2 LogMAR		UMLS:C4073011	hp.json		http://purl.obolibrary.org/obo/HP_0030537							
HP:0030538	biolink:PhenotypicFeature	Unaided visual acuity 0.3 LogMAR		UMLS:C4073012	hp.json		http://purl.obolibrary.org/obo/HP_0030538							
HP:0030539	biolink:PhenotypicFeature	Unaided visual acuity 0.4 LogMAR		UMLS:C4073013	hp.json		http://purl.obolibrary.org/obo/HP_0030539							
HP:0030540	biolink:PhenotypicFeature	Unaided visual acuity 0.5 LogMAR		UMLS:C4073014	hp.json		http://purl.obolibrary.org/obo/HP_0030540							
HP:0030541	biolink:PhenotypicFeature	Unaided visual acuity 0.6 LogMAR		UMLS:C4073015	hp.json		http://purl.obolibrary.org/obo/HP_0030541							
HP:0030542	biolink:PhenotypicFeature	Unaided visual acuity 0.7 LogMAR		UMLS:C4073016	hp.json		http://purl.obolibrary.org/obo/HP_0030542							
HP:0030543	biolink:PhenotypicFeature	Unaided visual acuity 0.8 LogMAR		UMLS:C4073017	hp.json		http://purl.obolibrary.org/obo/HP_0030543							
HP:0030544	biolink:PhenotypicFeature	Unaided visual acuity 0.9 LogMAR		UMLS:C4073018	hp.json		http://purl.obolibrary.org/obo/HP_0030544							
HP:0030545	biolink:PhenotypicFeature	Unaided visual acuity 1.0 LogMAR		UMLS:C4073019	hp.json		http://purl.obolibrary.org/obo/HP_0030545							
HP:0030546	biolink:PhenotypicFeature	Unaided visual acuity 1.1 LogMAR		UMLS:C4073020	hp.json		http://purl.obolibrary.org/obo/HP_0030546							
HP:0030547	biolink:PhenotypicFeature	Unaided visual acuity 1.2 LogMAR		UMLS:C4073021	hp.json		http://purl.obolibrary.org/obo/HP_0030547							
HP:0030548	biolink:PhenotypicFeature	Unaided visual acuity 1.3 LogMAR		UMLS:C4073022	hp.json		http://purl.obolibrary.org/obo/HP_0030548							
HP:0030549	biolink:PhenotypicFeature	Unaided visual acuity 2.0 LogMAR		UMLS:C4073023	hp.json		http://purl.obolibrary.org/obo/HP_0030549							
HP:0030550	biolink:PhenotypicFeature	Unaided visual acuity 3.0 LogMAR		UMLS:C4073024	hp.json		http://purl.obolibrary.org/obo/HP_0030550							
HP:0030551	biolink:PhenotypicFeature	Visual acuity light perception with projection		UMLS:C4073025	hp.json		http://purl.obolibrary.org/obo/HP_0030551							
HP:0030552	biolink:PhenotypicFeature	Visual acuity light perception without projection		UMLS:C4073026	hp.json		http://purl.obolibrary.org/obo/HP_0030552							
HP:0030553	biolink:PhenotypicFeature	Visual acuity no light perception		SNOMEDCT_US:63063006|UMLS:C0442774	hp.json		http://purl.obolibrary.org/obo/HP_0030553							
HP:0030554	biolink:PhenotypicFeature	Best corrected visual acuity 0.1 LogMAR		UMLS:C4073027	hp.json		http://purl.obolibrary.org/obo/HP_0030554							
HP:0030555	biolink:PhenotypicFeature	Best corrected visual acuity 0.2 LogMAR		UMLS:C4073028	hp.json		http://purl.obolibrary.org/obo/HP_0030555							
HP:0030556	biolink:PhenotypicFeature	Best corrected visual acuity 0.3 LogMAR		UMLS:C4073029	hp.json		http://purl.obolibrary.org/obo/HP_0030556							
HP:0030557	biolink:PhenotypicFeature	Best corrected visual acuity 0.4 LogMAR		UMLS:C4073030	hp.json		http://purl.obolibrary.org/obo/HP_0030557							
HP:0030558	biolink:PhenotypicFeature	Best corrected visual acuity 0.5 LogMAR		UMLS:C4073031	hp.json		http://purl.obolibrary.org/obo/HP_0030558							
HP:0030559	biolink:PhenotypicFeature	Best corrected visual acuity 0.7 LogMAR		UMLS:C4073032	hp.json		http://purl.obolibrary.org/obo/HP_0030559							
HP:0030560	biolink:PhenotypicFeature	Best corrected visual acuity 0.6 LogMAR		UMLS:C4073033	hp.json		http://purl.obolibrary.org/obo/HP_0030560							
HP:0030561	biolink:PhenotypicFeature	Best corrected visual acuity 0.8 LogMAR		UMLS:C4073034	hp.json		http://purl.obolibrary.org/obo/HP_0030561							
HP:0030562	biolink:PhenotypicFeature	Best corrected visual acuity 0.9 LogMAR		UMLS:C4073035	hp.json		http://purl.obolibrary.org/obo/HP_0030562							
HP:0030563	biolink:PhenotypicFeature	Best corrected visual acuity 1.0 LogMAR		UMLS:C4073036	hp.json		http://purl.obolibrary.org/obo/HP_0030563							
HP:0030564	biolink:PhenotypicFeature	Best corrected visual acuity 1.1 LogMAR		UMLS:C4073037	hp.json		http://purl.obolibrary.org/obo/HP_0030564							
HP:0030565	biolink:PhenotypicFeature	Best corrected visual acuity 1.2 LogMAR		UMLS:C4073038	hp.json		http://purl.obolibrary.org/obo/HP_0030565							
HP:0030566	biolink:PhenotypicFeature	Best corrected visual acuity 1.3 LogMAR		UMLS:C4073039	hp.json		http://purl.obolibrary.org/obo/HP_0030566							
HP:0030567	biolink:PhenotypicFeature	Best corrected visual acuity 2.0 LogMAR		UMLS:C4073040	hp.json		http://purl.obolibrary.org/obo/HP_0030567							
HP:0030568	biolink:PhenotypicFeature	Best corrected visual acuity 3.0 LogMAR		UMLS:C4073041	hp.json		http://purl.obolibrary.org/obo/HP_0030568							
HP:0030569	biolink:PhenotypicFeature	Pinhole visual acuity 0.1 LogMAR		UMLS:C4073042	hp.json		http://purl.obolibrary.org/obo/HP_0030569							
HP:0030570	biolink:PhenotypicFeature	Pinhole visual acuity 0.2 LogMAR		UMLS:C4073043	hp.json		http://purl.obolibrary.org/obo/HP_0030570							
HP:0030571	biolink:PhenotypicFeature	Pinhole visual acuity 0.3 LogMAR		UMLS:C4073044	hp.json		http://purl.obolibrary.org/obo/HP_0030571							
HP:0030572	biolink:PhenotypicFeature	Pinhole visual acuity 0.4 LogMAR		UMLS:C4073045	hp.json		http://purl.obolibrary.org/obo/HP_0030572							
HP:0030573	biolink:PhenotypicFeature	Pinhole visual acuity 0.5 LogMAR		UMLS:C4073046	hp.json		http://purl.obolibrary.org/obo/HP_0030573							
HP:0030574	biolink:PhenotypicFeature	Pinhole visual acuity 0.6 LogMAR		UMLS:C4073047	hp.json		http://purl.obolibrary.org/obo/HP_0030574							
HP:0030575	biolink:PhenotypicFeature	Pinhole visual acuity 0.7 LogMAR		UMLS:C4073048	hp.json		http://purl.obolibrary.org/obo/HP_0030575							
HP:0030576	biolink:PhenotypicFeature	Pinhole visual acuity 0.8 LogMAR		UMLS:C4073049	hp.json		http://purl.obolibrary.org/obo/HP_0030576							
HP:0030577	biolink:PhenotypicFeature	Pinhole visual acuity 0.9 LogMAR		UMLS:C4073050	hp.json		http://purl.obolibrary.org/obo/HP_0030577							
HP:0030578	biolink:PhenotypicFeature	Pinhole visual acuity 1.0 LogMAR		UMLS:C4073051	hp.json		http://purl.obolibrary.org/obo/HP_0030578							
HP:0030579	biolink:PhenotypicFeature	Pinhole visual acuity 1.1 LogMAR		UMLS:C4073052	hp.json		http://purl.obolibrary.org/obo/HP_0030579							
HP:0030580	biolink:PhenotypicFeature	Pinhole visual acuity 1.2 LogMAR		UMLS:C4073053	hp.json		http://purl.obolibrary.org/obo/HP_0030580							
HP:0030581	biolink:PhenotypicFeature	Pinhole visual acuity 1.3 LogMAR		UMLS:C4073054	hp.json		http://purl.obolibrary.org/obo/HP_0030581							
HP:0030582	biolink:PhenotypicFeature	Pinhole visual acuity 2.0 LogMAR		UMLS:C4073055	hp.json		http://purl.obolibrary.org/obo/HP_0030582							
HP:0030583	biolink:PhenotypicFeature	Pinhole visual acuity 3.0 LogMAR		UMLS:C4073056	hp.json		http://purl.obolibrary.org/obo/HP_0030583							
HP:0030584	biolink:PhenotypicFeature	Color vision test abnormality		UMLS:C4073057	hp.json	Colour vision test abnormality	http://purl.obolibrary.org/obo/HP_0030584							
HP:0030585	biolink:PhenotypicFeature	Red desaturation		UMLS:C4073058	hp.json		http://purl.obolibrary.org/obo/HP_0030585							
HP:0030586	biolink:PhenotypicFeature	Abnormal Ishihara plate test		UMLS:C4073059	hp.json		http://purl.obolibrary.org/obo/HP_0030586							
HP:0030587	biolink:PhenotypicFeature	Abnormal Hardy-Rand-Rittler plate test		UMLS:C4073060	hp.json		http://purl.obolibrary.org/obo/HP_0030587							
HP:0030588	biolink:PhenotypicFeature	Abnormal visual field test	Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.	UMLS:C0854021	hp.json		http://purl.obolibrary.org/obo/HP_0030588							
HP:0030589	biolink:PhenotypicFeature	Abnormal confrontational visual field test		UMLS:C4073061	hp.json		http://purl.obolibrary.org/obo/HP_0030589							
HP:0030590	biolink:PhenotypicFeature	Abnormal Amsler grid test		UMLS:C4073062	hp.json		http://purl.obolibrary.org/obo/HP_0030590							
HP:0030591	biolink:PhenotypicFeature	Abnormal kinetic perimetry test		UMLS:C4073063	hp.json		http://purl.obolibrary.org/obo/HP_0030591							
HP:0030592	biolink:PhenotypicFeature	Abnormal static perimetry test		UMLS:C4073064	hp.json		http://purl.obolibrary.org/obo/HP_0030592							
HP:0030593	biolink:PhenotypicFeature	Abnormal manual kinetic perimetry test		UMLS:C4073065	hp.json		http://purl.obolibrary.org/obo/HP_0030593							
HP:0030594	biolink:PhenotypicFeature	Abnormal automated kinetic perimetry test		UMLS:C4073066	hp.json		http://purl.obolibrary.org/obo/HP_0030594							
HP:0030595	biolink:PhenotypicFeature	Abnormal static automated perimetry test		UMLS:C4073067	hp.json		http://purl.obolibrary.org/obo/HP_0030595							
HP:0030596	biolink:PhenotypicFeature	Abnormal Humphrey SITA 30-2 perimetry test		UMLS:C4073068	hp.json		http://purl.obolibrary.org/obo/HP_0030596							
HP:0030597	biolink:PhenotypicFeature	Abnormal Humphrey SITA 24-2 perimetry test		UMLS:C4073069	hp.json		http://purl.obolibrary.org/obo/HP_0030597							
HP:0030598	biolink:PhenotypicFeature	Abnormal Humphrey SITA 10-2 perimetry test		UMLS:C4073070	hp.json		http://purl.obolibrary.org/obo/HP_0030598							
HP:0030599	biolink:PhenotypicFeature	Abnormal Estermann grid perimetry test		UMLS:C4073071	hp.json		http://purl.obolibrary.org/obo/HP_0030599							
HP:0030601	biolink:PhenotypicFeature	Abnormal posterior segment imaging		UMLS:C4073072	hp.json		http://purl.obolibrary.org/obo/HP_0030601							
HP:0030602	biolink:PhenotypicFeature	Abnormal fundus autofluorescence imaging	Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.	UMLS:C4073073	hp.json		http://purl.obolibrary.org/obo/HP_0030602							
HP:0030603	biolink:PhenotypicFeature	Abnormal optical coherence tomography		UMLS:C3665728	hp.json		http://purl.obolibrary.org/obo/HP_0030603							
HP:0030604	biolink:PhenotypicFeature	Abnormal fundus fluorescein angiography	An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.	UMLS:C4073074	hp.json		http://purl.obolibrary.org/obo/HP_0030604							
HP:0030605	biolink:PhenotypicFeature	Abnormal indocyanine green angiography		UMLS:C4073075	hp.json		http://purl.obolibrary.org/obo/HP_0030605							
HP:0030606	biolink:PhenotypicFeature	Abnormal OCT-measured macular thickness		UMLS:C4073076	hp.json		http://purl.obolibrary.org/obo/HP_0030606							
HP:0030607	biolink:PhenotypicFeature	Reduced OCT-measured macular thickness		UMLS:C4073077	hp.json		http://purl.obolibrary.org/obo/HP_0030607							
HP:0030608	biolink:PhenotypicFeature	Increased OCT-measured macular thickness		UMLS:C4073078	hp.json		http://purl.obolibrary.org/obo/HP_0030608							
HP:0030609	biolink:PhenotypicFeature	Photoreceptor layer loss on macular OCT	Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.	UMLS:C4073079	hp.json		http://purl.obolibrary.org/obo/HP_0030609							
HP:0030610	biolink:PhenotypicFeature	Photoreceptor outer segment loss on macular OCT		UMLS:C4073080	hp.json		http://purl.obolibrary.org/obo/HP_0030610							
HP:0030611	biolink:PhenotypicFeature	Retinal pigment epithelial loss on macular OCT		UMLS:C4073081	hp.json		http://purl.obolibrary.org/obo/HP_0030611							
HP:0030612	biolink:PhenotypicFeature	Abnormal retinal morphology on macular OCT		UMLS:C4073082	hp.json		http://purl.obolibrary.org/obo/HP_0030612							
HP:0030613	biolink:PhenotypicFeature	Abnormal foveal morphology on macular OCT		UMLS:C4073083	hp.json		http://purl.obolibrary.org/obo/HP_0030613							
HP:0030614	biolink:PhenotypicFeature	Foveal photoreceptor layer loss on macular OCT		UMLS:C4073084	hp.json		http://purl.obolibrary.org/obo/HP_0030614							
HP:0030615	biolink:PhenotypicFeature	Foveal photoreceptor outer segment loss on macular OCT		UMLS:C4073085	hp.json		http://purl.obolibrary.org/obo/HP_0030615							
HP:0030616	biolink:PhenotypicFeature	Foveal retinal pigment epithelial loss on macular OCT		UMLS:C4073086	hp.json		http://purl.obolibrary.org/obo/HP_0030616							
HP:0030617	biolink:PhenotypicFeature	Abnormal OCT-measured foveal thickness		UMLS:C4073087	hp.json		http://purl.obolibrary.org/obo/HP_0030617							
HP:0030618	biolink:PhenotypicFeature	Increased OCT-measured foveal thickness		UMLS:C4073088	hp.json		http://purl.obolibrary.org/obo/HP_0030618							
HP:0030619	biolink:PhenotypicFeature	Reduced OCT-measured foveal thickness		UMLS:C4073089	hp.json		http://purl.obolibrary.org/obo/HP_0030619							
HP:0030620	biolink:PhenotypicFeature	Inner retinal layer loss on macular OCT		UMLS:C4073090	hp.json		http://purl.obolibrary.org/obo/HP_0030620							
HP:0030621	biolink:PhenotypicFeature	Foveal inner retinal layer loss on macular OCT		UMLS:C4073091	hp.json		http://purl.obolibrary.org/obo/HP_0030621							
HP:0030622	biolink:PhenotypicFeature	Abnormal foveal pit on macular OCT		UMLS:C4073092	hp.json		http://purl.obolibrary.org/obo/HP_0030622							
HP:0030623	biolink:PhenotypicFeature	Intraretinal hyporeflective spaces on macular OCT		UMLS:C4073093	hp.json		http://purl.obolibrary.org/obo/HP_0030623							
HP:0030624	biolink:PhenotypicFeature	Subretinal hyporeflective spaces on macular OCT		UMLS:C4073094	hp.json		http://purl.obolibrary.org/obo/HP_0030624							
HP:0030625	biolink:PhenotypicFeature	Hyporeflective spaces on macular OCT		UMLS:C4073095	hp.json		http://purl.obolibrary.org/obo/HP_0030625							
HP:0030626	biolink:PhenotypicFeature	Foveal intraretinal hyporeflective spaces on macular OCT		UMLS:C4073096	hp.json		http://purl.obolibrary.org/obo/HP_0030626							
HP:0030627	biolink:PhenotypicFeature	Foveal hyporeflective spaces on macular OCT		UMLS:C4073097	hp.json		http://purl.obolibrary.org/obo/HP_0030627							
HP:0030628	biolink:PhenotypicFeature	Foveal subretinal hyporeflective spaces on macular OCT		UMLS:C4073098	hp.json		http://purl.obolibrary.org/obo/HP_0030628							
HP:0030629	biolink:PhenotypicFeature	Perifoveal ring of hyperautofluorescence		UMLS:C4073099	hp.json		http://purl.obolibrary.org/obo/HP_0030629							
HP:0030630	biolink:PhenotypicFeature	Irregular central macular autofluorescence		UMLS:C4073100	hp.json		http://purl.obolibrary.org/obo/HP_0030630							
HP:0030631	biolink:PhenotypicFeature	Hyperautofluorescent macular lesion	Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.	UMLS:C4073101	hp.json		http://purl.obolibrary.org/obo/HP_0030631							
HP:0030632	biolink:PhenotypicFeature	Hypoautofluorescent macular lesion	Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.	UMLS:C4073102	hp.json	Hypo-autofluorescent macular lesion	http://purl.obolibrary.org/obo/HP_0030632							
HP:0030633	biolink:PhenotypicFeature	Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence		UMLS:C4073103	hp.json		http://purl.obolibrary.org/obo/HP_0030633							
HP:0030634	biolink:PhenotypicFeature	Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence		UMLS:C4073104	hp.json		http://purl.obolibrary.org/obo/HP_0030634							
HP:0030635	biolink:PhenotypicFeature	Retinal dystrophy with early macular involvement		UMLS:C4049066	hp.json		http://purl.obolibrary.org/obo/HP_0030635							
HP:0030636	biolink:PhenotypicFeature	Occult macular dystrophy	Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.		hp.json		http://purl.obolibrary.org/obo/HP_0030636							
HP:0030637	biolink:PhenotypicFeature	Congenital stationary cone dysfunction	Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.	UMLS:C0543968	hp.json	Cone dysfunction|Cone dysfunction syndrome	http://purl.obolibrary.org/obo/HP_0030637							
HP:0030638	biolink:PhenotypicFeature	Congenital stationary night blindness with normal fundus		UMLS:C4073105	hp.json		http://purl.obolibrary.org/obo/HP_0030638							
HP:0030639	biolink:PhenotypicFeature	Congenital stationary night blindness with abnormal fundus		UMLS:C4073106	hp.json		http://purl.obolibrary.org/obo/HP_0030639							
HP:0030640	biolink:PhenotypicFeature	Complete congenital stationary night blindness		UMLS:C4048798	hp.json		http://purl.obolibrary.org/obo/HP_0030640							
HP:0030641	biolink:PhenotypicFeature	Incomplete congenital stationary night blindness		UMLS:C4073107	hp.json		http://purl.obolibrary.org/obo/HP_0030641							
HP:0030642	biolink:PhenotypicFeature	Fundus albipunctatus		MSH:C562733|SNOMEDCT_US:68222009|UMLS:C0311338	hp.json		http://purl.obolibrary.org/obo/HP_0030642							
HP:0030643	biolink:PhenotypicFeature	Vitelliform-like retinal lesions		UMLS:C4073108	hp.json		http://purl.obolibrary.org/obo/HP_0030643							
HP:0030644	biolink:PhenotypicFeature	Blind-spot enlargment		UMLS:C4073109	hp.json	Blind spot enlargment	http://purl.obolibrary.org/obo/HP_0030644							
HP:0030645	biolink:PhenotypicFeature	Central	Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.	SNOMEDCT_US:26216008|UMLS:C0205099	hp.json		http://purl.obolibrary.org/obo/HP_0030645							
HP:0030646	biolink:PhenotypicFeature	Peripheral		SNOMEDCT_US:14414005|UMLS:C0205100	hp.json		http://purl.obolibrary.org/obo/HP_0030646							
HP:0030647	biolink:PhenotypicFeature	Paracentral		UMLS:C4073110	hp.json		http://purl.obolibrary.org/obo/HP_0030647							
HP:0030648	biolink:PhenotypicFeature	Midperipheral		UMLS:C4073111	hp.json	Mid-peripheral	http://purl.obolibrary.org/obo/HP_0030648							
HP:0030649	biolink:PhenotypicFeature	Pericentral		UMLS:C4073112	hp.json		http://purl.obolibrary.org/obo/HP_0030649							
HP:0030650	biolink:PhenotypicFeature	Focal		SNOMEDCT_US:87017008|UMLS:C0205234	hp.json		http://purl.obolibrary.org/obo/HP_0030650							
HP:0030651	biolink:PhenotypicFeature	Multifocal		SNOMEDCT_US:524008|UMLS:C0205292	hp.json		http://purl.obolibrary.org/obo/HP_0030651							
HP:0030652	biolink:PhenotypicFeature	Vitreous haze	Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.	UMLS:C4073113	hp.json		http://purl.obolibrary.org/obo/HP_0030652							
HP:0030654	biolink:PhenotypicFeature	Umbilical cord cyst	Any cystic lesion associated with the umbilical cord.	UMLS:C4073114	hp.json		http://purl.obolibrary.org/obo/HP_0030654							
HP:0030655	biolink:PhenotypicFeature	Umbilical cord knot	An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.	SNOMEDCT_US:237309005|UMLS:C0344363	hp.json		http://purl.obolibrary.org/obo/HP_0030655							
HP:0030656	biolink:PhenotypicFeature	Umbilical vein varix	Focal dilation of the umbilical vein.	UMLS:C4073115	hp.json		http://purl.obolibrary.org/obo/HP_0030656							
HP:0030657	biolink:PhenotypicFeature	Umbilical cord hematoma	Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.	SNOMEDCT_US:86256001|UMLS:C0269855	hp.json	Umbilical cord haematoma	http://purl.obolibrary.org/obo/HP_0030657							
HP:0030658	biolink:PhenotypicFeature	Marginal umbilical cord insertion	Insertion of the umbilical cord within 2 cm from the placental edge.	SNOMEDCT_US:51519001|UMLS:C0266788	hp.json	Marginal cord insertion	http://purl.obolibrary.org/obo/HP_0030658							
HP:0030659	biolink:PhenotypicFeature	Velamentous cord insertion	Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.	SNOMEDCT_US:77278008|UMLS:C0266789	hp.json		http://purl.obolibrary.org/obo/HP_0030659							
HP:0030660	biolink:PhenotypicFeature	Furcate cord insertion	Branching of the umbilical cord before its insertion into the placenta.	UMLS:C4073116	hp.json		http://purl.obolibrary.org/obo/HP_0030660							
HP:0030661	biolink:PhenotypicFeature	Vitreous snowballs	Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.	SNOMEDCT_US:417393008|UMLS:C1563272	hp.json		http://purl.obolibrary.org/obo/HP_0030661							
HP:0030662	biolink:PhenotypicFeature	Vitreous inflammatory cells	The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.	UMLS:C4073117	hp.json		http://purl.obolibrary.org/obo/HP_0030662							
HP:0030663	biolink:PhenotypicFeature	Optically empty vitreous	Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.	UMLS:C4073118	hp.json		http://purl.obolibrary.org/obo/HP_0030663							
HP:0030664	biolink:PhenotypicFeature	Beevor's sign	Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.	SNOMEDCT_US:61282003|UMLS:C0231616	hp.json		http://purl.obolibrary.org/obo/HP_0030664							
HP:0030665	biolink:PhenotypicFeature	Rubral tremor	Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.	MSH:D001259|UMLS:C0750940	hp.json	Holmes' tremor	http://purl.obolibrary.org/obo/HP_0030665							
HP:0030666	biolink:PhenotypicFeature	Retinal neovascularization	In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.	MSH:D015861|SNOMEDCT_US:61267008|UMLS:C0035320	hp.json	Retinal neovascularisation	http://purl.obolibrary.org/obo/HP_0030666							
HP:0030667	biolink:PhenotypicFeature	Peripheral retinal neovascularization	A type of retinal neovascularization that affects the periphery of the retina.	SNOMEDCT_US:247100001|UMLS:C0474355	hp.json		http://purl.obolibrary.org/obo/HP_0030667							
HP:0030668	biolink:PhenotypicFeature	Periorbital dermoid cyst	A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.	UMLS:C4073119	hp.json		http://purl.obolibrary.org/obo/HP_0030668							
HP:0030669	biolink:PhenotypicFeature	Abnormal ocular adnexa morphology	A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.	UMLS:C4073120	hp.json		http://purl.obolibrary.org/obo/HP_0030669							
HP:0030670	biolink:PhenotypicFeature	Hamartoma of the orbital region	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.	UMLS:C4073121	hp.json		http://purl.obolibrary.org/obo/HP_0030670							
HP:0030671	biolink:PhenotypicFeature	Abnormal common tendinous ring morphology	Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.	UMLS:C4073122	hp.json	Abnormality of the common tendinous ring	http://purl.obolibrary.org/obo/HP_0030671							
HP:0030672	biolink:PhenotypicFeature	Asteroid hyalosis	The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.	SNOMEDCT_US:95800001|UMLS:C0521770	hp.json		http://purl.obolibrary.org/obo/HP_0030672							
HP:0030673	biolink:PhenotypicFeature	Erosive vitreoretinopathy	A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.	MSH:C536075|SNOMEDCT_US:232064001|UMLS:C1840452	hp.json		http://purl.obolibrary.org/obo/HP_0030673							
HP:0030674	biolink:PhenotypicFeature	Antenatal onset	Onset prior to birth.	UMLS:C2673646	hp.json		http://purl.obolibrary.org/obo/HP_0030674							
HP:0030675	biolink:PhenotypicFeature	Contracture of proximal interphalangeal joints of 2nd-5th fingers	Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.	UMLS:C4073123	hp.json		http://purl.obolibrary.org/obo/HP_0030675							
HP:0030676	biolink:PhenotypicFeature	Satyr ear	Sharp pointed superior portion of the ear, with variable overfolding of the helix.	UMLS:C4048833	hp.json	Devil ear	http://purl.obolibrary.org/obo/HP_0030676							
HP:0030677	biolink:PhenotypicFeature	Mozart ear	A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.	UMLS:C4073124	hp.json		http://purl.obolibrary.org/obo/HP_0030677							
HP:0030679	biolink:PhenotypicFeature	Ash-leaf spot	A hypopigmented spot in the shape of a leaf from the mountain ash tree.	UMLS:C4073125	hp.json		http://purl.obolibrary.org/obo/HP_0030679							
HP:0030680	biolink:PhenotypicFeature	Abnormality of cardiovascular system morphology	Any structural anomaly of the heart and great vessels.	UMLS:C4049796	hp.json	Cardiovascular malformations	http://purl.obolibrary.org/obo/HP_0030680							
HP:0030681	biolink:PhenotypicFeature	Abnormal morphology of myocardial trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).	UMLS:C4073289	hp.json		http://purl.obolibrary.org/obo/HP_0030681							
HP:0030682	biolink:PhenotypicFeature	Left ventricular noncompaction	Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.	UMLS:C1960469	hp.json		http://purl.obolibrary.org/obo/HP_0030682							
HP:0030683	biolink:PhenotypicFeature	Vaginitis	Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.	MSH:D014627|SNOMEDCT_US:30800001|UMLS:C0042267	hp.json	Vulvovaginitis	http://purl.obolibrary.org/obo/HP_0030683							
HP:0030684	biolink:PhenotypicFeature	Abnormal adiponectin level	A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.	UMLS:C4073126	hp.json		http://purl.obolibrary.org/obo/HP_0030684							
HP:0030685	biolink:PhenotypicFeature	Decreased adiponectin level	A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.	UMLS:C4073127	hp.json		http://purl.obolibrary.org/obo/HP_0030685							
HP:0030686	biolink:PhenotypicFeature	Increased adiponectin level	An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.	UMLS:C4073128	hp.json		http://purl.obolibrary.org/obo/HP_0030686							
HP:0030687	biolink:PhenotypicFeature	Abnormal glucagon level	A deviation from the normal concentration of glucagon in the blood circulation.	UMLS:C4073129	hp.json		http://purl.obolibrary.org/obo/HP_0030687							
HP:0030688	biolink:PhenotypicFeature	Increased glucagon level	An elevated concentration of glucagon in the blood circulation.	SNOMEDCT_US:131106002|UMLS:C1295677	hp.json		http://purl.obolibrary.org/obo/HP_0030688							
HP:0030689	biolink:PhenotypicFeature	Decreased glucagon level	A reduced concentration of glucagon in the blood circulation.	SNOMEDCT_US:131107006|UMLS:C1295678	hp.json		http://purl.obolibrary.org/obo/HP_0030689							
HP:0030690	biolink:PhenotypicFeature	Gingival cleft	A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.	SNOMEDCT_US:109622003|UMLS:C0426489	hp.json		http://purl.obolibrary.org/obo/HP_0030690							
HP:0030691	biolink:PhenotypicFeature	Divergence nystagmus	A condition in which both eyes beat outward simultaneously.	UMLS:C4073130	hp.json		http://purl.obolibrary.org/obo/HP_0030691							
HP:0030692	biolink:PhenotypicFeature	Brain neoplasm	A benign or malignant neoplasm that arises from or metastasizes to the brain.	MSH:D001932|NCIT:C2907|SNOMEDCT_US:126952004|SNOMEDCT_US:254935002|UMLS:C0006118	hp.json	Brain tumor|Brain tumour	http://purl.obolibrary.org/obo/HP_0030692							
HP:0030693	biolink:PhenotypicFeature	Supratentorial neoplasm	A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.	MSH:D010871|MSH:D015173|NCIT:C3328|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941|UMLS:C0038874	hp.json	Pineal parenchymal tumor|Pineal parenchymal tumour	http://purl.obolibrary.org/obo/HP_0030693							
HP:0030694	biolink:PhenotypicFeature	Pineal parenchymal cell neoplasm		MSH:D010871|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941	hp.json		http://purl.obolibrary.org/obo/HP_0030694							
HP:0030706	biolink:PhenotypicFeature	Ranula	A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.	MSH:D011900|SNOMEDCT_US:14919007|UMLS:C2242813	hp.json	Sublingual cyst|Sublingual ptyalocele	http://purl.obolibrary.org/obo/HP_0030706							
HP:0030707	biolink:PhenotypicFeature	Unilateral lung agenesis	Lack of development of one lung.	MSH:C562992|UMLS:C4082952	hp.json	Unilateral pulmonary agenesis	http://purl.obolibrary.org/obo/HP_0030707							
HP:0030708	biolink:PhenotypicFeature	Myeloschisis	The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.	SNOMEDCT_US:360530005|UMLS:C0266507	hp.json		http://purl.obolibrary.org/obo/HP_0030708							
HP:0030709	biolink:PhenotypicFeature	Myelocystocele	Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.	MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312	hp.json		http://purl.obolibrary.org/obo/HP_0030709							
HP:0030710	biolink:PhenotypicFeature	Lipomeningocele	A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.	SNOMEDCT_US:253120005|UMLS:C0431344	hp.json		http://purl.obolibrary.org/obo/HP_0030710							
HP:0030711	biolink:PhenotypicFeature	Hydrocolpos	Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.	MSH:D052202|UMLS:C1399870	hp.json		http://purl.obolibrary.org/obo/HP_0030711							
HP:0030712	biolink:PhenotypicFeature	Uterine synechiae	Adhesions or scar tissue that form inside the cavity of the uterus.	MSH:D006175|SNOMEDCT_US:48236007|UMLS:C0156372	hp.json	Asherman syndrome	http://purl.obolibrary.org/obo/HP_0030712							
HP:0030713	biolink:PhenotypicFeature	Vein of Galen aneurysmal malformation	Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.	MSH:C536535|SNOMEDCT_US:253194008|UMLS:C0431420	hp.json	Median prosencephalic arteriovenous fistula|Vein of Galen aneurysm|Vein of Galen malformation	http://purl.obolibrary.org/obo/HP_0030713							
HP:0030714	biolink:PhenotypicFeature	Subchorionic thrombohematoma	A large maternal clot that separates the chorionic plate from the villous chorion.	UMLS:C1390676	hp.json	Breus' mole	http://purl.obolibrary.org/obo/HP_0030714							
HP:0030715	biolink:PhenotypicFeature	Bronchial atresia	A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.	SNOMEDCT_US:50513008|UMLS:C0265776	hp.json	Congenital bronchial atresia	http://purl.obolibrary.org/obo/HP_0030715							
HP:0030716	biolink:PhenotypicFeature	Acrania	Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.	MSH:D009436|SNOMEDCT_US:203923004|UMLS:C0702169	hp.json		http://purl.obolibrary.org/obo/HP_0030716							
HP:0030717	biolink:PhenotypicFeature	Meconium peritonitis	Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.	SNOMEDCT_US:57341009|UMLS:C0270250	hp.json		http://purl.obolibrary.org/obo/HP_0030717							
HP:0030718	biolink:PhenotypicFeature	Right atrial enlargement	Increase in size of the right atrium.	Fyler:1771|Fyler:2859|SNOMEDCT_US:67751000119106|UMLS:C0748427	hp.json	Dilated right atrium|Enlarged heart right atrium|Right atrial dilatation	http://purl.obolibrary.org/obo/HP_0030718							
HP:0030719	biolink:PhenotypicFeature	Unguarded tricuspid valve	A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.	SNOMEDCT_US:253381001|UMLS:C0344745	hp.json	Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice	http://purl.obolibrary.org/obo/HP_0030719							
HP:0030720	biolink:PhenotypicFeature	Subchorionic septal cyst	Cyst on the surface of the placenta consisting of amnion and chorion.	UMLS:C4280801	hp.json		http://purl.obolibrary.org/obo/HP_0030720							
HP:0030721	biolink:PhenotypicFeature	Tetraphocomelia	Phocomelia involving all four extremities.	UMLS:C1849370	hp.json		http://purl.obolibrary.org/obo/HP_0030721							
HP:0030722	biolink:PhenotypicFeature	Ectopic liver	Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.	SNOMEDCT_US:253813000|UMLS:C0431603	hp.json		http://purl.obolibrary.org/obo/HP_0030722							
HP:0030723	biolink:PhenotypicFeature	Congenital megalourethra	Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.	UMLS:C4280800	hp.json		http://purl.obolibrary.org/obo/HP_0030723							
HP:0030724	biolink:PhenotypicFeature	Central nervous system cyst	A fluid-filled sac (cyst) located within the central nervous system.	MSH:D020863|SNOMEDCT_US:277333006|UMLS:C0349606	hp.json	CNS cyst|Cyst of the central nervous system	http://purl.obolibrary.org/obo/HP_0030724							
HP:0030725	biolink:PhenotypicFeature	Neurenteric cyst	The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.	MSH:D009436|SNOMEDCT_US:253127008|SNOMEDCT_US:41353005|UMLS:C0027806	hp.json		http://purl.obolibrary.org/obo/HP_0030725							
HP:0030726	biolink:PhenotypicFeature	Spinal neurenteric cyst	A neurenteric cyst located in the spine.	UMLS:C4280799	hp.json		http://purl.obolibrary.org/obo/HP_0030726							
HP:0030727	biolink:PhenotypicFeature	Intracranial neurenteric cyst	A neurenteric cyst located within the skull.	UMLS:C4280680	hp.json		http://purl.obolibrary.org/obo/HP_0030727							
HP:0030728	biolink:PhenotypicFeature	Meromelia	Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.	SNOMEDCT_US:60220000|UMLS:C0265549	hp.json		http://purl.obolibrary.org/obo/HP_0030728							
HP:0030729	biolink:PhenotypicFeature	Frontoethmoidal meningocele	A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.	UMLS:C4280798	hp.json	Frontoethmoid meningocele	http://purl.obolibrary.org/obo/HP_0030729							
HP:0030730	biolink:PhenotypicFeature	Parietal meningocele	A herniation of meninges through a congenital bone defect in the skull in the parietal region.	UMLS:C4280797	hp.json		http://purl.obolibrary.org/obo/HP_0030730							
HP:0030731	biolink:PhenotypicFeature	Carcinoma	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).	MSH:D002277|NCIT:C2916|SNOMEDCT_US:68453008|UMLS:C0007097	hp.json		http://purl.obolibrary.org/obo/HP_0030731							
HP:0030732	biolink:PhenotypicFeature	Dysplastic tricuspid valve	A congenital malformation of the tricuspid valve characterized by leaflet deformation.	UMLS:C4255215	hp.json	Tricuspid valve dysplasia	http://purl.obolibrary.org/obo/HP_0030732							
HP:0030733	biolink:PhenotypicFeature	Vesicoallantoic abdominal wall defect	An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.	UMLS:C4280796	hp.json		http://purl.obolibrary.org/obo/HP_0030733							
HP:0030735	biolink:PhenotypicFeature	Ureterovesical junction obstruction	Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.	UMLS:C2609249	hp.json		http://purl.obolibrary.org/obo/HP_0030735							
HP:0030736	biolink:PhenotypicFeature	Sacrococcygeal teratoma	A teratoma arising in the sacro-coccygeal region.	SNOMEDCT_US:281561000|UMLS:C0559459	hp.json		http://purl.obolibrary.org/obo/HP_0030736							
HP:0030737	biolink:PhenotypicFeature	Altman type I sacrococcygeal teratoma	A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.	UMLS:C4280795	hp.json		http://purl.obolibrary.org/obo/HP_0030737							
HP:0030738	biolink:PhenotypicFeature	Altman type II sacrococcygeal teratoma	A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.	UMLS:C4280794	hp.json		http://purl.obolibrary.org/obo/HP_0030738							
HP:0030739	biolink:PhenotypicFeature	Altman type III sacrococcygeal teratoma	A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.	UMLS:C4280793	hp.json		http://purl.obolibrary.org/obo/HP_0030739							
HP:0030740	biolink:PhenotypicFeature	Anomalous muscle bundle of the right ventricle	An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.	UMLS:C4280792	hp.json	Right ventricular anomalous muscle bundle	http://purl.obolibrary.org/obo/HP_0030740							
HP:0030741	biolink:PhenotypicFeature	Mediastinal teratoma	A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).	NCIT:C6438|UMLS:C1334682	hp.json	Teratoma of the mediastinum	http://purl.obolibrary.org/obo/HP_0030741							
HP:0030742	biolink:PhenotypicFeature	Glial remnants posterior to lens	This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.	SNOMEDCT_US:370483001|UMLS:C1299892	hp.json	Mittendorf dot	http://purl.obolibrary.org/obo/HP_0030742							
HP:0030743	biolink:PhenotypicFeature	Glial remnants anterior to the optic disc	Persistance of a posterior remnant of the hyaloid artery located at the optic disc.	UMLS:C4280791	hp.json	Bergmeister papilla	http://purl.obolibrary.org/obo/HP_0030743							
HP:0030744	biolink:PhenotypicFeature	Hyaloid vascular remnant and retrolental mass	A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.	UMLS:C4280790	hp.json		http://purl.obolibrary.org/obo/HP_0030744							
HP:0030745	biolink:PhenotypicFeature	Dilatation of the ductus arteriosus	A saccular or fusiform dilation and elongation of the ductus arteriosus.	SNOMEDCT_US:233990006|UMLS:C0398357	hp.json	Congenital ductus arteriosus aneurysm|Ductus arteriosus aneurysm	http://purl.obolibrary.org/obo/HP_0030745							
HP:0030746	biolink:PhenotypicFeature	Intraventricular hemorrhage	Bleeding into the ventricles of the brain.	SNOMEDCT_US:23276006|UMLS:C0240059	hp.json	Intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030746							
HP:0030747	biolink:PhenotypicFeature	Preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a premature infant.	UMLS:C4280789	hp.json	Preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030747							
HP:0030748	biolink:PhenotypicFeature	Grade I preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.	SNOMEDCT_US:276650005|UMLS:C0475737	hp.json	Germinal matrix haemorrhage|Grade I preterm intraventricular haemorrhage|Germinal matrix hemorrhage	http://purl.obolibrary.org/obo/HP_0030748							
HP:0030749	biolink:PhenotypicFeature	Grade II preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.	UMLS:C4280788	hp.json	Grade II preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030749							
HP:0030750	biolink:PhenotypicFeature	Grade III preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.	UMLS:C4280787	hp.json	Grade III preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030750							
HP:0030751	biolink:PhenotypicFeature	Grade IV preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.	UMLS:C4280786	hp.json	Grade IV preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030751							
HP:0030752	biolink:PhenotypicFeature	Dacryocystocele	A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.	SNOMEDCT_US:42758002|UMLS:C0155241	hp.json	Timo cyst	http://purl.obolibrary.org/obo/HP_0030752							
HP:0030753	biolink:PhenotypicFeature	Intrauterine fetal demise of one twin after midgestation	Loss of one twin occurring after midgestation (17 weeks gestation).	UMLS:C4280785	hp.json	Intrauterine foetal demise of one twin after midgestation|Single-twin demise	http://purl.obolibrary.org/obo/HP_0030753							
HP:0030754	biolink:PhenotypicFeature	Allantoic cyst	A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.	MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915	hp.json		http://purl.obolibrary.org/obo/HP_0030754							
HP:0030755	biolink:PhenotypicFeature	Craniofacial teratoma	A teratoma located in the craniofacial region.	NCIT:C3403|UMLS:C4280784	hp.json		http://purl.obolibrary.org/obo/HP_0030755							
HP:0030756	biolink:PhenotypicFeature	Erythrodontia	Reddish, brown opalescent discoloration of teeth in normal light.	UMLS:C4280783	hp.json	Red teeth	http://purl.obolibrary.org/obo/HP_0030756							
HP:0030757	biolink:PhenotypicFeature	Tooth abscess	A pocket of pus located within a region of a tooth.	SNOMEDCT_US:299709002|UMLS:C0518988	hp.json	Dental abscess|Dentoalveolar abscess	http://purl.obolibrary.org/obo/HP_0030757							
HP:0030758	biolink:PhenotypicFeature	Periapical tooth abscess	A tooth abscess that occurs at the tip of the root (apex) of a tooth.	UMLS:C4280782	hp.json		http://purl.obolibrary.org/obo/HP_0030758							
HP:0030759	biolink:PhenotypicFeature	Adipocyte hypertrophy	An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.	UMLS:C4280781	hp.json	Fat cell hypertrophy	http://purl.obolibrary.org/obo/HP_0030759							
HP:0030760	biolink:PhenotypicFeature	Renal fibrosis	Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.	SNOMEDCT_US:197660000|UMLS:C0151650	hp.json	Kidney fibrosis	http://purl.obolibrary.org/obo/HP_0030760							
HP:0030761	biolink:PhenotypicFeature	obsolete Renal glomerular fibrosis			hp.json		http://purl.obolibrary.org/obo/HP_0030761							
HP:0030762	biolink:PhenotypicFeature	Mesangiolysis	Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.	UMLS:C4054531	hp.json		http://purl.obolibrary.org/obo/HP_0030762							
HP:0030763	biolink:PhenotypicFeature	Amniotic Sheet	A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.	UMLS:C4280779	hp.json	Amniotic shelf	http://purl.obolibrary.org/obo/HP_0030763							
HP:0030764	biolink:PhenotypicFeature	Ochronosis	Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.	MSH:D009794|SNOMEDCT_US:410042009|UMLS:C0028817	hp.json		http://purl.obolibrary.org/obo/HP_0030764							
HP:0030765	biolink:PhenotypicFeature	Sleep terror	Episodes of intense fear, screaming and flailing although affected individuals are still asleep.	MSH:D020184|SNOMEDCT_US:89675003|UMLS:C0037320	hp.json	Night terror|Pavor nocturnus|Sleep terrors	http://purl.obolibrary.org/obo/HP_0030765							
HP:0030766	biolink:PhenotypicFeature	Ear pain	Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).	MSH:D004433|SNOMEDCT_US:16001004|SNOMEDCT_US:162356005|UMLS:C0013456	hp.json	Ear pain|Pain in the ear|Otalgia	http://purl.obolibrary.org/obo/HP_0030766							
HP:0030767	biolink:PhenotypicFeature	Epignathus	Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.	SNOMEDCT_US:31248004|UMLS:C0266725	hp.json		http://purl.obolibrary.org/obo/HP_0030767							
HP:0030769	biolink:PhenotypicFeature	Exencephaly	A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.	MSH:D009436|SNOMEDCT_US:84461004|UMLS:C0266453	hp.json		http://purl.obolibrary.org/obo/HP_0030769							
HP:0030770	biolink:PhenotypicFeature	Craniorachischisis	A neural tube defect in which both the brain and spinal cord remain open to varying degrees.	MSH:D009436|SNOMEDCT_US:32219008|UMLS:C0152426	hp.json		http://purl.obolibrary.org/obo/HP_0030770							
HP:0030771	biolink:PhenotypicFeature	Mallet finger	Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.	SNOMEDCT_US:64298006|UMLS:C0158473	hp.json		http://purl.obolibrary.org/obo/HP_0030771							
HP:0030772	biolink:PhenotypicFeature	Proximal femoral focal deficiency	Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.	SNOMEDCT_US:205211001|UMLS:C0431996	hp.json		http://purl.obolibrary.org/obo/HP_0030772							
HP:0030773	biolink:PhenotypicFeature	Internuclear ophthalmoplegia	An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.	MSH:D015835|SNOMEDCT_US:49823009|UMLS:C0152134	hp.json		http://purl.obolibrary.org/obo/HP_0030773							
HP:0030774	biolink:PhenotypicFeature	Mitochondrial swelling	The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.	MSH:D008933|SNOMEDCT_US:125429001|UMLS:C0026244	hp.json		http://purl.obolibrary.org/obo/HP_0030774							
HP:0030775	biolink:PhenotypicFeature	Modic type vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.	UMLS:C4280778	hp.json		http://purl.obolibrary.org/obo/HP_0030775							
HP:0030776	biolink:PhenotypicFeature	Modic type I vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.	UMLS:C4280777	hp.json	Modic type 1 vertebral endplate changes	http://purl.obolibrary.org/obo/HP_0030776							
HP:0030777	biolink:PhenotypicFeature	Modic type II vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.	UMLS:C4280776	hp.json	Modic type 2 vertebral endplate changes	http://purl.obolibrary.org/obo/HP_0030777							
HP:0030778	biolink:PhenotypicFeature	Modic type III vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.	UMLS:C4280775	hp.json	Modic type 3 vertebral endplate changes	http://purl.obolibrary.org/obo/HP_0030778							
HP:0030779	biolink:PhenotypicFeature	Ethmocephaly	Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.	SNOMEDCT_US:55709000|UMLS:C0266680	hp.json		http://purl.obolibrary.org/obo/HP_0030779							
HP:0030780	biolink:PhenotypicFeature	Abnormality of the protein C anticoagulant pathway	An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.	UMLS:C4280774	hp.json		http://purl.obolibrary.org/obo/HP_0030780							
HP:0030781	biolink:PhenotypicFeature	Increased circulating free fatty acid level	A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.	UMLS:C4280773	hp.json		http://purl.obolibrary.org/obo/HP_0030781							
HP:0030782	biolink:PhenotypicFeature	Abnormal serum interleukin level	An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.	UMLS:C4280772	hp.json	Abnormal serum IL level	http://purl.obolibrary.org/obo/HP_0030782							
HP:0030783	biolink:PhenotypicFeature	Increased circulating interleukin 6	An increased concentration of interleukin-6 in the circulation.	UMLS:C4280771	hp.json	Increased serum IL-6|Increased serum interleukin-6	http://purl.obolibrary.org/obo/HP_0030783							
HP:0030784	biolink:PhenotypicFeature	Anomic aphasia	An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.	MSH:D000849|SNOMEDCT_US:10325006|UMLS:C0003113	hp.json	Word-finding difficulty|Amnesic aphasia|Amnestic aphasia|Anomia|Nominal aphasia	http://purl.obolibrary.org/obo/HP_0030784							
HP:0030785	biolink:PhenotypicFeature	Mediastinal cystic lymphangioma	A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.	UMLS:C4280770	hp.json	Intrathoracic cystic hygroma|Thoracic cystic lymphangioma	http://purl.obolibrary.org/obo/HP_0030785							
HP:0030786	biolink:PhenotypicFeature	Photopsia	Perceived flashes of light.	SNOMEDCT_US:56170001|UMLS:C0085635	hp.json		http://purl.obolibrary.org/obo/HP_0030786							
HP:0030787	biolink:PhenotypicFeature	Cerumen abnormality	Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.	UMLS:C4280769	hp.json		http://purl.obolibrary.org/obo/HP_0030787							
HP:0030788	biolink:PhenotypicFeature	Impacted cerumen	Blockage of the external auditory canal by a buildup of earwax.	SNOMEDCT_US:18070006|UMLS:C0021092	hp.json		http://purl.obolibrary.org/obo/HP_0030788							
HP:0030789	biolink:PhenotypicFeature	Excessive cerumen	An increased quantity of earwax.	UMLS:C1382811	hp.json		http://purl.obolibrary.org/obo/HP_0030789							
HP:0030790	biolink:PhenotypicFeature	Abnormal cerumen color	An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.	UMLS:C4280768	hp.json	Abnormal cerumen colour|Abnormal cerumen pigmentation	http://purl.obolibrary.org/obo/HP_0030790							
HP:0030791	biolink:PhenotypicFeature	Abnormal jaw morphology	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.	UMLS:C4280767	hp.json		http://purl.obolibrary.org/obo/HP_0030791							
HP:0030792	biolink:PhenotypicFeature	Jaw neoplasm	A tumor originating in the jaw (mandible or maxilla).	MSH:D007573|SNOMEDCT_US:126634001|UMLS:C0022364	hp.json		http://purl.obolibrary.org/obo/HP_0030792							
HP:0030793	biolink:PhenotypicFeature	Jaw swelling	Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).	UMLS:C4280766	hp.json		http://purl.obolibrary.org/obo/HP_0030793							
HP:0030794	biolink:PhenotypicFeature	Abnormal C-peptide level	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.	UMLS:C4280765	hp.json	Abnormal C peptide level	http://purl.obolibrary.org/obo/HP_0030794							
HP:0030795	biolink:PhenotypicFeature	Reduced C-peptide level	A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.	UMLS:C4280764	hp.json	Reduced C peptide level	http://purl.obolibrary.org/obo/HP_0030795							
HP:0030796	biolink:PhenotypicFeature	Increased C-peptide level	An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.	UMLS:C4280763	hp.json	Increased C peptide level	http://purl.obolibrary.org/obo/HP_0030796							
HP:0030797	biolink:PhenotypicFeature	Reduced volume of central subdivision of bed nucleus of stria terminalis	A diminished volume of the central part of the bed nucleus of the stria terminalis.	UMLS:C4280762	hp.json		http://purl.obolibrary.org/obo/HP_0030797							
HP:0030798	biolink:PhenotypicFeature	Abnormality of the bed nucleus of stria terminalis	The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.	UMLS:C4280761	hp.json		http://purl.obolibrary.org/obo/HP_0030798							
HP:0030799	biolink:PhenotypicFeature	Scaphocephaly	Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.	MSH:D003398|SNOMEDCT_US:4191007|UMLS:C0265534	hp.json		http://purl.obolibrary.org/obo/HP_0030799							
HP:0030800	biolink:PhenotypicFeature	Abnormal visual accommodation	An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.	UMLS:C4280760	hp.json		http://purl.obolibrary.org/obo/HP_0030800							
HP:0030801	biolink:PhenotypicFeature	Reduced visual accommodation	A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.	UMLS:C4280759	hp.json		http://purl.obolibrary.org/obo/HP_0030801							
HP:0030802	biolink:PhenotypicFeature	Lower eyelid retraction	Inferior malposition of the lower eyelid margin without eyelid eversion.	SNOMEDCT_US:700264006|UMLS:C1861656	hp.json		http://purl.obolibrary.org/obo/HP_0030802							
HP:0030803	biolink:PhenotypicFeature	Platonychia	Abnormal flat nail.	UMLS:C1853986	hp.json		http://purl.obolibrary.org/obo/HP_0030803							
HP:0030804	biolink:PhenotypicFeature	Trachyonychia	Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.	SNOMEDCT_US:69192004|UMLS:C0546956	hp.json		http://purl.obolibrary.org/obo/HP_0030804							
HP:0030805	biolink:PhenotypicFeature	Absent lunula	Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.	UMLS:C4280758	hp.json	Absent lunulae|Lunulae absent|Lunula absent	http://purl.obolibrary.org/obo/HP_0030805							
HP:0030806	biolink:PhenotypicFeature	Fast-growing nails	Nails whose growth is quicker than normal.	UMLS:C4280757	hp.json		http://purl.obolibrary.org/obo/HP_0030806							
HP:0030807	biolink:PhenotypicFeature	Abnormal nail growth	Nail whose growth pattern or speed deviates from normal.	UMLS:C1610609	hp.json		http://purl.obolibrary.org/obo/HP_0030807							
HP:0030808	biolink:PhenotypicFeature	Ragged cuticle	The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.	UMLS:C4280756	hp.json		http://purl.obolibrary.org/obo/HP_0030808							
HP:0030809	biolink:PhenotypicFeature	Abnormal tongue morphology	Any structural anomaly of the tongue.	UMLS:C4280755	hp.json		http://purl.obolibrary.org/obo/HP_0030809							
HP:0030810	biolink:PhenotypicFeature	Abnormal tongue physiology	Any functional anomaly of the tongue.	UMLS:C4280754	hp.json		http://purl.obolibrary.org/obo/HP_0030810							
HP:0030811	biolink:PhenotypicFeature	Tongue pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.	MSH:D005926|SNOMEDCT_US:30731004|UMLS:C0017672	hp.json	Painful tongue	http://purl.obolibrary.org/obo/HP_0030811							
HP:0030812	biolink:PhenotypicFeature	Enlarged tonsils	Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.	SNOMEDCT_US:46689006|UMLS:C0272386	hp.json	Enlargment of tonsils|Tonsillar hypertrophy|tonsils large/hypertrophy	http://purl.obolibrary.org/obo/HP_0030812							
HP:0030813	biolink:PhenotypicFeature	Absent tonsils	Lack of observable tonsillar tissue.	SNOMEDCT_US:249393008|SNOMEDCT_US:300277007|UMLS:C0576999	hp.json	Hypoplastic tonsils|Tonsillar hypoplasia	http://purl.obolibrary.org/obo/HP_0030813							
HP:0030814	biolink:PhenotypicFeature	Orange discolored tonsils	A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.	UMLS:C4280753	hp.json	Orange discoloured tonsils|Orange colored tonsils|Orange coloured tonsils|Orange tonsils|Tonsils with orange deposits	http://purl.obolibrary.org/obo/HP_0030814							
HP:0030815	biolink:PhenotypicFeature	Lipoma of the tongue	A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.	UMLS:C0238467	hp.json	Tongue lipoma	http://purl.obolibrary.org/obo/HP_0030815							
HP:0030816	biolink:PhenotypicFeature	Gingival recession	The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.	MSH:D005889|SNOMEDCT_US:4356008|UMLS:C0017572	hp.json	Gum recession|Receding gums	http://purl.obolibrary.org/obo/HP_0030816							
HP:0030817	biolink:PhenotypicFeature	Beaked nails	Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.	UMLS:C4280752	hp.json		http://purl.obolibrary.org/obo/HP_0030817							
HP:0030818	biolink:PhenotypicFeature	Central nail canal	The presense of a depressed line ("canal") in the center of the nail.	SNOMEDCT_US:238718006|SNOMEDCT_US:86393005|UMLS:C0263526	hp.json	Median nail dystrophy	http://purl.obolibrary.org/obo/HP_0030818							
HP:0030819	biolink:PhenotypicFeature	Ski jump nail	Nails that slope upward at the free edge.	UMLS:C4280751	hp.json	Upslanting nail|Upward angulation of nail	http://purl.obolibrary.org/obo/HP_0030819							
HP:0030820	biolink:PhenotypicFeature	Hooded eyelid	Eyelid partly covered by skin when eyes are open.	UMLS:C3277348	hp.json		http://purl.obolibrary.org/obo/HP_0030820							
HP:0030821	biolink:PhenotypicFeature	Hooded lower eyelid	Lower eyelid partly covered by skin when eyes are open.	UMLS:C4280750	hp.json		http://purl.obolibrary.org/obo/HP_0030821							
HP:0030822	biolink:PhenotypicFeature	Hooded upper eyelid	Upper eyelid partly covered by skin when eyes are open.	UMLS:C4280749	hp.json		http://purl.obolibrary.org/obo/HP_0030822							
HP:0030823	biolink:PhenotypicFeature	Scleral thickening	Increased dimension of the sclera in the anterior-posterior axis.	UMLS:C2674403	hp.json	Thick sclera	http://purl.obolibrary.org/obo/HP_0030823							
HP:0030824	biolink:PhenotypicFeature	Mizuo phenomenon	Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].	UMLS:C4280748	hp.json	Mizuo-Nakamura phenomenon	http://purl.obolibrary.org/obo/HP_0030824							
HP:0030825	biolink:PhenotypicFeature	Absent foveal reflex	Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.	SNOMEDCT_US:247144003|UMLS:C0423420	hp.json	Foveal reflex absent|Loss of foveal reflex	http://purl.obolibrary.org/obo/HP_0030825							
HP:0030826	biolink:PhenotypicFeature	Eyelid fasciculation	Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.	UMLS:C4280682	hp.json	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							
HP:0030828	biolink:PhenotypicFeature	Wheezing	A high-pitched whistling sound associated with labored breathing.	MSH:D012135|SNOMEDCT_US:56018004|UMLS:C0043144	hp.json	Wheezing	http://purl.obolibrary.org/obo/HP_0030828							
HP:0030829	biolink:PhenotypicFeature	Abnormal breath sound	An anomalous (adventitious) sound produced by the breathing process.	SNOMEDCT_US:301273002|UMLS:C0231856	hp.json		http://purl.obolibrary.org/obo/HP_0030829							
HP:0030830	biolink:PhenotypicFeature	Crackles	Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.	MSH:D012135|SNOMEDCT_US:48409008|UMLS:C0034642	hp.json	Crepitations|Rales	http://purl.obolibrary.org/obo/HP_0030830							
HP:0030831	biolink:PhenotypicFeature	Rhonchi	Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.	MSH:D012135|SNOMEDCT_US:24612001|UMLS:C0035508	hp.json		http://purl.obolibrary.org/obo/HP_0030831							
HP:0030832	biolink:PhenotypicFeature	Vitreous strands	Fiber- or rope-like opacities located within the vitreous humor.	SNOMEDCT_US:28167005|UMLS:C0271408	hp.json		http://purl.obolibrary.org/obo/HP_0030832							
HP:0030833	biolink:PhenotypicFeature	Neck pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.	MSH:D019547|SNOMEDCT_US:81680005|UMLS:C0007859	hp.json	Neck pain	http://purl.obolibrary.org/obo/HP_0030833							
HP:0030834	biolink:PhenotypicFeature	Shoulder pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.	MSH:D020069|SNOMEDCT_US:45326000|UMLS:C0037011	hp.json	Shoulder pain	http://purl.obolibrary.org/obo/HP_0030834							
HP:0030835	biolink:PhenotypicFeature	Elbow pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.	SNOMEDCT_US:74323005|UMLS:C0239266	hp.json	Elbow pain	http://purl.obolibrary.org/obo/HP_0030835							
HP:0030836	biolink:PhenotypicFeature	Wrist pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.	SNOMEDCT_US:202482009|SNOMEDCT_US:56608008|UMLS:C0221785	hp.json	Wrist pain	http://purl.obolibrary.org/obo/HP_0030836							
HP:0030837	biolink:PhenotypicFeature	Finger pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.	SNOMEDCT_US:18876004|UMLS:C0239589	hp.json	Finger pain	http://purl.obolibrary.org/obo/HP_0030837							
HP:0030838	biolink:PhenotypicFeature	Hip pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.	SNOMEDCT_US:49218002|UMLS:C0019559	hp.json	Hip pain	http://purl.obolibrary.org/obo/HP_0030838							
HP:0030839	biolink:PhenotypicFeature	Knee pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.	SNOMEDCT_US:30989003|UMLS:C0231749	hp.json	Pain under knee cap|Knee pain	http://purl.obolibrary.org/obo/HP_0030839							
HP:0030840	biolink:PhenotypicFeature	Ankle pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.	SNOMEDCT_US:202490009|SNOMEDCT_US:247373008|UMLS:C0238656	hp.json	Ankle pain	http://purl.obolibrary.org/obo/HP_0030840							
HP:0030841	biolink:PhenotypicFeature	Toe pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.	SNOMEDCT_US:285365001|UMLS:C0241416	hp.json	Toe pain	http://purl.obolibrary.org/obo/HP_0030841							
HP:0030842	biolink:PhenotypicFeature	Choking episodes	Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.	UMLS:C4280747	hp.json		http://purl.obolibrary.org/obo/HP_0030842							
HP:0030843	biolink:PhenotypicFeature	Cardiac amyloidosis	Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.	SNOMEDCT_US:16573007|UMLS:C0268407	hp.json	Amyloid cardiomyopathy	http://purl.obolibrary.org/obo/HP_0030843							
HP:0030844	biolink:PhenotypicFeature	Undetectable pattern electroretinogram	Absent response to a pattern electroretinogram (PERG).	UMLS:C4280746	hp.json		http://purl.obolibrary.org/obo/HP_0030844							
HP:0030845	biolink:PhenotypicFeature	Heliotrope rash of eyelid	Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.	UMLS:C4280745	hp.json		http://purl.obolibrary.org/obo/HP_0030845							
HP:0030846	biolink:PhenotypicFeature	Abnormality of venous physiology	An anomaly of venous function.	UMLS:C4280744	hp.json		http://purl.obolibrary.org/obo/HP_0030846							
HP:0030847	biolink:PhenotypicFeature	Abnormal jugular venous pressure	An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.	SNOMEDCT_US:62436006|UMLS:C0520860	hp.json		http://purl.obolibrary.org/obo/HP_0030847							
HP:0030848	biolink:PhenotypicFeature	Elevated jugular venous pressure	Increased jugular venous pressure.	SNOMEDCT_US:22447003|UMLS:C0520861	hp.json		http://purl.obolibrary.org/obo/HP_0030848							
HP:0030849	biolink:PhenotypicFeature	Hepatojugular reflux	The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.	SNOMEDCT_US:72196001|UMLS:C0239949	hp.json		http://purl.obolibrary.org/obo/HP_0030849							
HP:0030850	biolink:PhenotypicFeature	Abnormal pulse pressure	An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.	UMLS:C0855322	hp.json		http://purl.obolibrary.org/obo/HP_0030850							
HP:0030851	biolink:PhenotypicFeature	Low pulse pressure	Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).	UMLS:C4280743	hp.json		http://purl.obolibrary.org/obo/HP_0030851							
HP:0030852	biolink:PhenotypicFeature	High pulse pressure	Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).	UMLS:C0855323	hp.json		http://purl.obolibrary.org/obo/HP_0030852							
HP:0030853	biolink:PhenotypicFeature	Heterotaxy	An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.	Fyler:0190|Fyler:190|MSH:D059446|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|UMLS:C0266642	hp.json	Heterotaxia	http://purl.obolibrary.org/obo/HP_0030853							
HP:0030854	biolink:PhenotypicFeature	Scleral staphyloma	A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	SNOMEDCT_US:111534007|UMLS:C0155359	hp.json	Staphyloma	http://purl.obolibrary.org/obo/HP_0030854							
HP:0030855	biolink:PhenotypicFeature	Anterior staphyloma	A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	SNOMEDCT_US:231888000|UMLS:C0339206	hp.json		http://purl.obolibrary.org/obo/HP_0030855							
HP:0030856	biolink:PhenotypicFeature	Posterior staphyloma	A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	SNOMEDCT_US:87819007|UMLS:C0155360	hp.json		http://purl.obolibrary.org/obo/HP_0030856							
HP:0030857	biolink:PhenotypicFeature	Eye movement-induced pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.	UMLS:C4280742	hp.json		http://purl.obolibrary.org/obo/HP_0030857							
HP:0030858	biolink:PhenotypicFeature	Addictive behavior	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.	MSH:D016739|SNOMEDCT_US:32709003|UMLS:C0085281	hp.json	Addictive behaviour	http://purl.obolibrary.org/obo/HP_0030858							
HP:0030859	biolink:PhenotypicFeature	Anti-topoisomerase I antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.	UMLS:C4280741	hp.json	Top1 antibody positivity|Topoisomerase (DNA) I antibody positivity	http://purl.obolibrary.org/obo/HP_0030859							
HP:0030860	biolink:PhenotypicFeature	Abnormal CSF amyloid level	Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).	UMLS:C4280740	hp.json	Abnormal CSF A[beta]42 level	http://purl.obolibrary.org/obo/HP_0030860							
HP:0030861	biolink:PhenotypicFeature	Decreased CSF amyloid level	Reduced concentration of amyloid in the cerebrospinal fluid (CSF).	UMLS:C4280739	hp.json		http://purl.obolibrary.org/obo/HP_0030861							
HP:0030862	biolink:PhenotypicFeature	Elevated CSF amyloid level	Increased concentration of amyloid in the cerebrospinal fluid (CSF).	UMLS:C4280738	hp.json		http://purl.obolibrary.org/obo/HP_0030862							
HP:0030863	biolink:PhenotypicFeature	Nasal flaring	Widening of the nostrils upon inhalation as a manifestation of respiratory distress.	SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873	hp.json		http://purl.obolibrary.org/obo/HP_0030863							
HP:0030864	biolink:PhenotypicFeature	Intercostal retractions	A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.	SNOMEDCT_US:6442005|UMLS:C0425470	hp.json	Chest retractions	http://purl.obolibrary.org/obo/HP_0030864							
HP:0030865	biolink:PhenotypicFeature	Large elbow	Abnormal increased size of the elbow joint.	UMLS:C4280737	hp.json	Prominent elbow	http://purl.obolibrary.org/obo/HP_0030865							
HP:0030866	biolink:PhenotypicFeature	Large knee	Abnormally increased size of the knee joint.	UMLS:C4280736	hp.json		http://purl.obolibrary.org/obo/HP_0030866							
HP:0030867	biolink:PhenotypicFeature	Vertical orbital dystopia	The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.	SNOMEDCT_US:253243008|UMLS:C0431460	hp.json	Eyes at different heights|Misaligned eyes|Unequal eye height	http://purl.obolibrary.org/obo/HP_0030867							
HP:0030868	biolink:PhenotypicFeature	Monorchism	Having only one testis in the scrotum.	SNOMEDCT_US:87310001|UMLS:C0266429	hp.json	Monorchidism	http://purl.obolibrary.org/obo/HP_0030868							
HP:0030869	biolink:PhenotypicFeature	Anorchism	An abnormality of XY sexual development characterized by the absence of both testes at birth.	MSH:C537770|SNOMEDCT_US:371015003|UMLS:C1261504	hp.json		http://purl.obolibrary.org/obo/HP_0030869							
HP:0030870	biolink:PhenotypicFeature	Abnormality of spinal facet joint	An anomaly of the small joints located between and behind adjacent vertebrae.	UMLS:C4280735	hp.json	Abnormality of Z-joint|Abnormality of apophyseal joint|Abnormality of zygapophyseal joint|Abnormality of zygapophysial joint	http://purl.obolibrary.org/obo/HP_0030870							
HP:0030871	biolink:PhenotypicFeature	Facet joint arthrosis	Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.	UMLS:C4280734	hp.json	Facet arthritis	http://purl.obolibrary.org/obo/HP_0030871							
HP:0030872	biolink:PhenotypicFeature	Abnormal cardiac ventricular function	An abnormality of the cardiac ventricular function.	UMLS:C4280733	hp.json		http://purl.obolibrary.org/obo/HP_0030872							
HP:0030873	biolink:PhenotypicFeature	Anti-centromere antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.	UMLS:C4280732	hp.json	ACA positivity|Anti-centromere antibody positivity|Anticentromere antibody positivity	http://purl.obolibrary.org/obo/HP_0030873							
HP:0030874	biolink:PhenotypicFeature	Oxygen desaturation on exertion	Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.	UMLS:C4280731	hp.json	O2 desaturation on exertion	http://purl.obolibrary.org/obo/HP_0030874							
HP:0030875	biolink:PhenotypicFeature	Abnormality of pulmonary circulation	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.	UMLS:C4280730	hp.json	Abnormal pulmonary circulation|Abnormality of respiratory circulation	http://purl.obolibrary.org/obo/HP_0030875							
HP:0030876	biolink:PhenotypicFeature	Increased pulmonary capillary wedge pressure	Pulmonary capillary wedge pressure (PCWP) above 15mmHg.	SNOMEDCT_US:30261008|UMLS:C0520850	hp.json	Increased pulmonary arterial wedge pressure|Increased pulmonary artery occlusion pressure	http://purl.obolibrary.org/obo/HP_0030876							
HP:0030877	biolink:PhenotypicFeature	Reduced FEV1/FVC ratio	Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).	UMLS:C4280729	hp.json	Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing	http://purl.obolibrary.org/obo/HP_0030877							
HP:0030878	biolink:PhenotypicFeature	Abnormality on pulmonary function testing	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.	UMLS:C4280728	hp.json	Abnormal pulmonary function test|Abnormal spirometry test	http://purl.obolibrary.org/obo/HP_0030878							
HP:0030879	biolink:PhenotypicFeature	Interlobular septal thickening	Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.	UMLS:C4280727	hp.json	Interlobular lines (pulmonary CT finding)|Peripheral lines (pulmonary CT finding)|Septal lines (pulmonary CT finding)|Septal thickening (pulmonary CT finding)|Short lines (pumonary CT finding)|Interlobular septal thickening on pulmonary HRCT	http://purl.obolibrary.org/obo/HP_0030879							
HP:0030880	biolink:PhenotypicFeature	Raynaud phenomenon		MSH:D011928|SNOMEDCT_US:266261006|UMLS:C0034735	hp.json	Raynaud's phenomenon|Raynaud disease	http://purl.obolibrary.org/obo/HP_0030880							
HP:0030881	biolink:PhenotypicFeature	Shoulder impingement	Trapping and compression of the rotator cuff tendons during shoulder movements.	UMLS:C1655733	hp.json		http://purl.obolibrary.org/obo/HP_0030881							
HP:0030882	biolink:PhenotypicFeature	Coronary artery aneurysm	Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.	Fyler:3129|UMLS:C4255100	hp.json	Coronary arterial dilatation|Coronary artery dilatation|Coronary artery ectasia	http://purl.obolibrary.org/obo/HP_0030882							
HP:0030883	biolink:PhenotypicFeature	Femoroacetabular impingement	Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.	MSH:D057925|SNOMEDCT_US:432473000|UMLS:C2936290	hp.json	Femoral acetabular impingement	http://purl.obolibrary.org/obo/HP_0030883							
HP:0030884	biolink:PhenotypicFeature	Gastrojejunal tube feeding in infancy	Feeding problem necessitating gastrojejunal tube feeding.	UMLS:C4280681	hp.json	Gastro-jejunal tube feeding in infancy	http://purl.obolibrary.org/obo/HP_0030884							
HP:0030885	biolink:PhenotypicFeature	Recurrent parasitic infections	Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.	UMLS:C4280726	hp.json		http://purl.obolibrary.org/obo/HP_0030885							
HP:0030886	biolink:PhenotypicFeature	Abnormal lymphocyte apoptosis	A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.	UMLS:C4280725	hp.json		http://purl.obolibrary.org/obo/HP_0030886							
HP:0030887	biolink:PhenotypicFeature	Increased lymphocyte apoptosis	A elevation in the rate of apoptosis in lymphocytes.	UMLS:C4280724	hp.json		http://purl.obolibrary.org/obo/HP_0030887							
HP:0030888	biolink:PhenotypicFeature	C3 nephritic factor positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).		hp.json		http://purl.obolibrary.org/obo/HP_0030888							
HP:0030889	biolink:PhenotypicFeature	Congenital shortened small intestine	Substantially shortened length of the small intestine as a result of a developmental defect.		hp.json	Short bowel	http://purl.obolibrary.org/obo/HP_0030889							
HP:0030890	biolink:PhenotypicFeature	Hyperintensity of cerebral white matter on MRI	A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.		hp.json	White matter hyperintensity	http://purl.obolibrary.org/obo/HP_0030890							
HP:0030891	biolink:PhenotypicFeature	Periventricular white matter hyperdensities	Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.		hp.json	PVWMH|Periventricular cerebral white matter hyperdensities|Periventricular white matter hyperintensities	http://purl.obolibrary.org/obo/HP_0030891							
HP:0030892	biolink:PhenotypicFeature	Deep cerebral white matter hyperdensities	Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.		hp.json	DWMH|Deep white matter hyperintensities	http://purl.obolibrary.org/obo/HP_0030892							
HP:0030893	biolink:PhenotypicFeature	Abnormal response to short acting pulmonary vasodilator	Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.		hp.json		http://purl.obolibrary.org/obo/HP_0030893							
HP:0030894	biolink:PhenotypicFeature	Insufficient response to short acting pulmonary vasodilator	No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.		hp.json		http://purl.obolibrary.org/obo/HP_0030894							
HP:0030895	biolink:PhenotypicFeature	Abnormal gastrointestinal motility	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.		hp.json	Abnormal GI motility	http://purl.obolibrary.org/obo/HP_0030895							
HP:0030896	biolink:PhenotypicFeature	Abnormal gastrointestinal transit time	A deviation from the normal amount of time required for food to pass through the intestines.		hp.json	Abnormal GI transit time	http://purl.obolibrary.org/obo/HP_0030896							
HP:0030897	biolink:PhenotypicFeature	Decreased intestinal transit time	A reduction in the length of time required for food to pass through the intestines.		hp.json		http://purl.obolibrary.org/obo/HP_0030897							
HP:0030898	biolink:PhenotypicFeature	Pruritis on abdomen	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.		hp.json		http://purl.obolibrary.org/obo/HP_0030898							
HP:0030899	biolink:PhenotypicFeature	Pruritis on hand	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.		hp.json		http://purl.obolibrary.org/obo/HP_0030899							
HP:0030900	biolink:PhenotypicFeature	Pruritus on foot	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.		hp.json	Itchy feet|Itchy foot	http://purl.obolibrary.org/obo/HP_0030900							
HP:0030901	biolink:PhenotypicFeature	Pruritis on breast	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.		hp.json		http://purl.obolibrary.org/obo/HP_0030901							
HP:0030902	biolink:PhenotypicFeature	Palmomental reflex	A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.		hp.json		http://purl.obolibrary.org/obo/HP_0030902							
HP:0030903	biolink:PhenotypicFeature	Grasp reflex	A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].		hp.json	Palmar grasp reflex	http://purl.obolibrary.org/obo/HP_0030903							
HP:0030904	biolink:PhenotypicFeature	Glabellar reflex	A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.		hp.json	Myerson's sign	http://purl.obolibrary.org/obo/HP_0030904							
HP:0030905	biolink:PhenotypicFeature	Snout reflex	A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.		hp.json		http://purl.obolibrary.org/obo/HP_0030905							
HP:0030906	biolink:PhenotypicFeature	Suck reflex	A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.		hp.json	Persistent nutritive suckle swallow	http://purl.obolibrary.org/obo/HP_0030906							
HP:0030907	biolink:PhenotypicFeature	Thunderclap headache	Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.		hp.json		http://purl.obolibrary.org/obo/HP_0030907							
HP:0030908	biolink:PhenotypicFeature	Liver kidney microsome type 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).		hp.json	Anti-LKM-1 positive	http://purl.obolibrary.org/obo/HP_0030908							
HP:0030909	biolink:PhenotypicFeature	Anti-liver cytosolic antigen type 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.		hp.json	Anti-liver cytosol antibody-1 positivity	http://purl.obolibrary.org/obo/HP_0030909							
HP:0030911	biolink:PhenotypicFeature	Bifid clitoris	Two clitorides located side by side.		hp.json		http://purl.obolibrary.org/obo/HP_0030911							
HP:0030912	biolink:PhenotypicFeature	Duplicated clitoris	Supernumerary clitoris.		hp.json		http://purl.obolibrary.org/obo/HP_0030912							
HP:0030913	biolink:PhenotypicFeature	Exaggerated rugosity of the labia majora	Marked rugae formation of the skin of the labia majora.		hp.json	Scrotum-like labia majora	http://purl.obolibrary.org/obo/HP_0030913							
HP:0030914	biolink:PhenotypicFeature	Abnormal peristalsis	An anomaly of the wave-like muscle contractions of the digestive tract.		hp.json		http://purl.obolibrary.org/obo/HP_0030914							
HP:0030915	biolink:PhenotypicFeature	Cerebellar edema	Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.		hp.json	Cerebellar oedema|Edema of the cerebellum|Oedema of the cerebellum	http://purl.obolibrary.org/obo/HP_0030915							
HP:0030917	biolink:PhenotypicFeature	Low APGAR score			hp.json		http://purl.obolibrary.org/obo/HP_0030917							
HP:0030918	biolink:PhenotypicFeature	Low 1-minute APGAR score			hp.json	Low one-minute APGAR score	http://purl.obolibrary.org/obo/HP_0030918							
HP:0030919	biolink:PhenotypicFeature	Low 5-minute APGAR score			hp.json	Low five-minute APGAR score	http://purl.obolibrary.org/obo/HP_0030919							
HP:0030920	biolink:PhenotypicFeature	5-minute APGAR score of 0			hp.json		http://purl.obolibrary.org/obo/HP_0030920							
HP:0030921	biolink:PhenotypicFeature	5-minute APGAR score of 1			hp.json		http://purl.obolibrary.org/obo/HP_0030921							
HP:0030922	biolink:PhenotypicFeature	5-minute APGAR score of 2			hp.json		http://purl.obolibrary.org/obo/HP_0030922							
HP:0030923	biolink:PhenotypicFeature	5-minute APGAR score of 3			hp.json		http://purl.obolibrary.org/obo/HP_0030923							
HP:0030924	biolink:PhenotypicFeature	5-minute APGAR score of 4			hp.json		http://purl.obolibrary.org/obo/HP_0030924							
HP:0030925	biolink:PhenotypicFeature	5-minute APGAR score of 5			hp.json		http://purl.obolibrary.org/obo/HP_0030925							
HP:0030926	biolink:PhenotypicFeature	5-minute APGAR score of 6			hp.json		http://purl.obolibrary.org/obo/HP_0030926							
HP:0030927	biolink:PhenotypicFeature	1-minute APGAR score of 0			hp.json		http://purl.obolibrary.org/obo/HP_0030927							
HP:0030928	biolink:PhenotypicFeature	1-minute APGAR score of 1			hp.json		http://purl.obolibrary.org/obo/HP_0030928							
HP:0030929	biolink:PhenotypicFeature	1-minute APGAR score of 2			hp.json		http://purl.obolibrary.org/obo/HP_0030929							
HP:0030930	biolink:PhenotypicFeature	1-minute APGAR score of 3			hp.json		http://purl.obolibrary.org/obo/HP_0030930							
HP:0030931	biolink:PhenotypicFeature	1-minute APGAR score of 4			hp.json		http://purl.obolibrary.org/obo/HP_0030931							
HP:0030932	biolink:PhenotypicFeature	1-minute APGAR score of 5			hp.json		http://purl.obolibrary.org/obo/HP_0030932							
HP:0030933	biolink:PhenotypicFeature	1-minute APGAR score of 6			hp.json		http://purl.obolibrary.org/obo/HP_0030933							
HP:0030934	biolink:PhenotypicFeature	Oral erythroplakia	A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.		hp.json	Oral erythroplasia	http://purl.obolibrary.org/obo/HP_0030934							
HP:0030935	biolink:PhenotypicFeature	Abnormality of intestinal smooth muscle morphology	A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0030935							
HP:0030936	biolink:PhenotypicFeature	Abnormal layering of muscularis propria	Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.		hp.json	Muscularis propria malformation|Segmental additional circular muscle coat	http://purl.obolibrary.org/obo/HP_0030936							
HP:0030937	biolink:PhenotypicFeature	Fibrotic muscularis propria	The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.		hp.json		http://purl.obolibrary.org/obo/HP_0030937							
HP:0030938	biolink:PhenotypicFeature	Enteric intraneuronal nuclear inclusion bodies	Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.		hp.json		http://purl.obolibrary.org/obo/HP_0030938							
HP:0030939	biolink:PhenotypicFeature	Palpebral thickening	An increased thickness of the eyelid not related to acute inflammation.		hp.json	Eyelid thickening|Thick eyelids|Thickened but nonswollen eyelids|Thickened eyelid	http://purl.obolibrary.org/obo/HP_0030939							
HP:0030943	biolink:PhenotypicFeature	Vulvodynia	Pain in the vulvar area		hp.json	Vulvar pain	http://purl.obolibrary.org/obo/HP_0030943							
HP:0030946	biolink:PhenotypicFeature	Conjunctival papillae	Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.		hp.json		http://purl.obolibrary.org/obo/HP_0030946							
HP:0030947	biolink:PhenotypicFeature	Conjunctival follicles	Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0030947							
HP:0030948	biolink:PhenotypicFeature	Elevated gamma-glutamyltransferase level	Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.		hp.json	Elevated serum GGT	http://purl.obolibrary.org/obo/HP_0030948							
HP:0030949	biolink:PhenotypicFeature	Glomerular deposits	An abnormal accumulation of protein in the glomerulus.		hp.json		http://purl.obolibrary.org/obo/HP_0030949							
HP:0030950	biolink:PhenotypicFeature	Pulmonary venous hypertension	An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.		hp.json		http://purl.obolibrary.org/obo/HP_0030950							
HP:0030951	biolink:PhenotypicFeature	Skeletal muscle fibrosis	Excessive formation of fibrous bands of scar tissue in between muscle fibers.		hp.json		http://purl.obolibrary.org/obo/HP_0030951							
HP:0030952	biolink:PhenotypicFeature	Birdshot choroidal lesions	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.json		http://purl.obolibrary.org/obo/HP_0030952							
HP:0030953	biolink:PhenotypicFeature	Conjunctival hyperemia	Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.		hp.json	Conjunctival hyperaemia|Conjunctival injection|Conjunctival vascular congestion	http://purl.obolibrary.org/obo/HP_0030953							
HP:0030955	biolink:PhenotypicFeature	Alcoholism	An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.		hp.json		http://purl.obolibrary.org/obo/HP_0030955							
HP:0030956	biolink:PhenotypicFeature	Abnormality of cardiovascular system electrophysiology	An anomaly of the electrical conduction physiology of the heart.		hp.json		http://purl.obolibrary.org/obo/HP_0030956							
HP:0030957	biolink:PhenotypicFeature	Ventricular septal aneurysm	A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.		hp.json	Ventricular septal dilatation	http://purl.obolibrary.org/obo/HP_0030957							
HP:0030958	biolink:PhenotypicFeature	Membranous ventricular septal aneurysm	Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).	Fyler:2346	hp.json	Interventricular septum membranous part aneurysm|Aneurysm of the membranous ventricular septum	http://purl.obolibrary.org/obo/HP_0030958							
HP:0030959	biolink:PhenotypicFeature	Muscular ventricular septal aneurysm	Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).		hp.json	Aneurysm of the muscular ventricular septum	http://purl.obolibrary.org/obo/HP_0030959							
HP:0030960	biolink:PhenotypicFeature	obsolete Abnormal pupillary morphology			hp.json		http://purl.obolibrary.org/obo/HP_0030960							
HP:0030961	biolink:PhenotypicFeature	Microspherophakia	Lens of the eye is smaller than normal and spherically shaped.		hp.json		http://purl.obolibrary.org/obo/HP_0030961							
HP:0030962	biolink:PhenotypicFeature	Abnormal morphology of the great vessels	A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.		hp.json		http://purl.obolibrary.org/obo/HP_0030962							
HP:0030963	biolink:PhenotypicFeature	obsolete Abnormal aortic morphology			hp.json		http://purl.obolibrary.org/obo/HP_0030963							
HP:0030964	biolink:PhenotypicFeature	Abnormal aortic physiology			hp.json		http://purl.obolibrary.org/obo/HP_0030964							
HP:0030965	biolink:PhenotypicFeature	Aortic stiffness	The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.		hp.json	Increased aortic stiffness	http://purl.obolibrary.org/obo/HP_0030965							
HP:0030966	biolink:PhenotypicFeature	Abnormal pulmonary artery morphology	An abnormality of the structure of the pulmonary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0030966							
HP:0030967	biolink:PhenotypicFeature	Abnormal pulmonary artery physiology	An abnormality of the function of the pulmonary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0030967							
HP:0030968	biolink:PhenotypicFeature	Abnormal pulmonary vein morphology	An abnormality of the structure of the pulmonary veins.	Fyler:3000	hp.json		http://purl.obolibrary.org/obo/HP_0030968							
HP:0030969	biolink:PhenotypicFeature	Abnormal pulmonary vein physiology	An abnormality of the function of the pulmonary veins.		hp.json		http://purl.obolibrary.org/obo/HP_0030969							
HP:0030970	biolink:PhenotypicFeature	Abnormal vena cava physiology	An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.		hp.json		http://purl.obolibrary.org/obo/HP_0030970							
HP:0030971	biolink:PhenotypicFeature	obsolete Abnormal vena cava morphology			hp.json		http://purl.obolibrary.org/obo/HP_0030971							
HP:0030972	biolink:PhenotypicFeature	Abnormal systemic blood pressure	A chronic deviation from normal pressure in the systemic arterial system.		hp.json	Abnormal systemic BP	http://purl.obolibrary.org/obo/HP_0030972							
HP:0030973	biolink:PhenotypicFeature	Postexertional malaise	A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.		hp.json	Exercise-induced fatigue|Exercise-induced malaise|Postexertional fatigue	http://purl.obolibrary.org/obo/HP_0030973							
HP:0030974	biolink:PhenotypicFeature	Cryptozoospermia	A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out).		hp.json	Cryptospermia	http://purl.obolibrary.org/obo/HP_0030974							
HP:0030975	biolink:PhenotypicFeature	Pontine tegmental cap	An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.		hp.json	Vaulted pontine tegmentum	http://purl.obolibrary.org/obo/HP_0030975							
HP:0030976	biolink:PhenotypicFeature	Abnormal factor VIII activity	A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.		hp.json		http://purl.obolibrary.org/obo/HP_0030976							
HP:0030977	biolink:PhenotypicFeature	Increased factor VIII activity	Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.		hp.json		http://purl.obolibrary.org/obo/HP_0030977							
HP:0030978	biolink:PhenotypicFeature	Decreased CSF/serum albumin ratio	A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.		hp.json		http://purl.obolibrary.org/obo/HP_0030978							
HP:0030979	biolink:PhenotypicFeature	Dilatation of large choroidal vessels	Enlargement of the large blood vessels in the choroid.		hp.json	Dilated choroidal vessels	http://purl.obolibrary.org/obo/HP_0030979							
HP:0030980	biolink:PhenotypicFeature	Reduced brain glutamine level by MRS	An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json		http://purl.obolibrary.org/obo/HP_0030980							
HP:0030981	biolink:PhenotypicFeature	Abnormal CSF/serum albumin ratio	A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.		hp.json		http://purl.obolibrary.org/obo/HP_0030981							
HP:0030983	biolink:PhenotypicFeature	Ovarian thecoma	A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.		hp.json		http://purl.obolibrary.org/obo/HP_0030983							
HP:0030984	biolink:PhenotypicFeature	Abnormal serum bile acid concentration	A deviation from the normal concentration of serum bile acid concentration.		hp.json		http://purl.obolibrary.org/obo/HP_0030984							
HP:0030985	biolink:PhenotypicFeature	Decreased serum bile concentration	A reduction in the concentration of bile acid in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0030985							
HP:0030986	biolink:PhenotypicFeature	Biliary epithelial hyperplasia	Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0030986							
HP:0030987	biolink:PhenotypicFeature	Suppurative cholangitis	Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).		hp.json		http://purl.obolibrary.org/obo/HP_0030987							
HP:0030988	biolink:PhenotypicFeature	Granulomatous cholangitis	Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.		hp.json		http://purl.obolibrary.org/obo/HP_0030988							
HP:0030989	biolink:PhenotypicFeature	Lymphoid cholangitis	Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.		hp.json		http://purl.obolibrary.org/obo/HP_0030989							
HP:0030990	biolink:PhenotypicFeature	Pleomorphic cholangitis	Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.		hp.json		http://purl.obolibrary.org/obo/HP_0030990							
HP:0030991	biolink:PhenotypicFeature	Sclerosing cholangitis	Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.		hp.json	Fibrous cholangitis	http://purl.obolibrary.org/obo/HP_0030991							
HP:0030992	biolink:PhenotypicFeature	Abnormal pancreatic duct morphology	Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.		hp.json		http://purl.obolibrary.org/obo/HP_0030992							
HP:0030993	biolink:PhenotypicFeature	Duplication of pancreatic duct	A congenital anomaly characterized by the presence of two separate pancreatic ducts.		hp.json	Duplicated pancreatic duct	http://purl.obolibrary.org/obo/HP_0030993							
HP:0030994	biolink:PhenotypicFeature	Pancreas divisum	A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.		hp.json		http://purl.obolibrary.org/obo/HP_0030994							
HP:0030995	biolink:PhenotypicFeature	Peritoneal effusion	An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).		hp.json		http://purl.obolibrary.org/obo/HP_0030995							
HP:0030996	biolink:PhenotypicFeature	Megaduodenum	Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.		hp.json		http://purl.obolibrary.org/obo/HP_0030996							
HP:0030997	biolink:PhenotypicFeature	Atretic vas deferens	Abnormal closure or blockage of the vas deferens.		hp.json	Atresia of the vas deferens|Vas deferens atresia	http://purl.obolibrary.org/obo/HP_0030997							
HP:0030998	biolink:PhenotypicFeature	Cerebrospinal fluid rhinorrhoea	Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.		hp.json	CSF rhinorrhoea	http://purl.obolibrary.org/obo/HP_0030998							
HP:0030999	biolink:PhenotypicFeature	Abnormal vestibular saccule morphology	Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).		hp.json		http://purl.obolibrary.org/obo/HP_0030999							
HP:0031000	biolink:PhenotypicFeature	Vestibular saccular degeneration	Deterioration or loss of the tissues of the saccule of the vestibule.		hp.json		http://purl.obolibrary.org/obo/HP_0031000							
HP:0031001	biolink:PhenotypicFeature	Minifascicle formation	A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.		hp.json		http://purl.obolibrary.org/obo/HP_0031001							
HP:0031002	biolink:PhenotypicFeature	Neuritis	Inflammation of a nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0031002							
HP:0031003	biolink:PhenotypicFeature	Polyneuritis	Simulataneous inflammation of multiple nerves.		hp.json	Multiple neuritis	http://purl.obolibrary.org/obo/HP_0031003							
HP:0031004	biolink:PhenotypicFeature	Hemiareflexia	Areflexia that is limited to one side of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0031004							
HP:0031005	biolink:PhenotypicFeature	obsolete Hyperalgesia			hp.json		http://purl.obolibrary.org/obo/HP_0031005							
HP:0031006	biolink:PhenotypicFeature	Acroparesthesia	A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.		hp.json		http://purl.obolibrary.org/obo/HP_0031006							
HP:0031007	biolink:PhenotypicFeature	Orofacial action-specific dystonia induced by speech			hp.json	Jaw dystonia induced by speaking	http://purl.obolibrary.org/obo/HP_0031007							
HP:0031008	biolink:PhenotypicFeature	Lingual dystonia	Involuntary protrusions, movements, spams and contortions of the tongue.		hp.json	Tongue dystonia	http://purl.obolibrary.org/obo/HP_0031008							
HP:0031009	biolink:PhenotypicFeature	Ainhum	Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.		hp.json	Dactylolysis spontanea	http://purl.obolibrary.org/obo/HP_0031009							
HP:0031010	biolink:PhenotypicFeature	Hyperphalangy of the 3rd finger	An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.		hp.json	Hyperphalangy of third finger	http://purl.obolibrary.org/obo/HP_0031010							
HP:0031011	biolink:PhenotypicFeature	Fatty streak	Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.		hp.json	Sudanophilic lesion	http://purl.obolibrary.org/obo/HP_0031011							
HP:0031012	biolink:PhenotypicFeature	Thin-cap fibroatheroma	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.json	TCFA	http://purl.obolibrary.org/obo/HP_0031012							
HP:0031013	biolink:PhenotypicFeature	Ankylosis	A reduction of joint mobility resulting from changes involving the articular surfaces.		hp.json		http://purl.obolibrary.org/obo/HP_0031013							
HP:0031014	biolink:PhenotypicFeature	Arteria lusoria	Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.		hp.json	Aberrant right subclavian artery|Lusorian artery	http://purl.obolibrary.org/obo/HP_0031014							
HP:0031015	biolink:PhenotypicFeature	Intrahepatic portal vein sclerosis	Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.		hp.json	Idiopathic non-cirrhotic portal hypertension|Incomplete septal cirrhosis|Non cirrhotic portal fibrosis|Obliterative portal venopathy	http://purl.obolibrary.org/obo/HP_0031015							
HP:0031016	biolink:PhenotypicFeature	Alternating radiolucent and radiodense metaphyseal lines	Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.		hp.json	Zebra stripe sign	http://purl.obolibrary.org/obo/HP_0031016							
HP:0031017	biolink:PhenotypicFeature	Swiss cheese atrial septal defect	Multiple defects in the atrial septum.		hp.json		http://purl.obolibrary.org/obo/HP_0031017							
HP:0031018	biolink:PhenotypicFeature	Eccrine syringofibroadenoma	Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).		hp.json	Acrosyringeal adenomatosis|Eccrine syringofibroadenomatous hyperplasia|Syringofibroadenoma	http://purl.obolibrary.org/obo/HP_0031018							
HP:0031019	biolink:PhenotypicFeature	Pyknotic bone marrow neutrophils	Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.		hp.json		http://purl.obolibrary.org/obo/HP_0031019							
HP:0031020	biolink:PhenotypicFeature	Bone marrow hypercellularity	A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.		hp.json		http://purl.obolibrary.org/obo/HP_0031020							
HP:0031021	biolink:PhenotypicFeature	Squamous Papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].	NCIT:C3712	hp.json		http://purl.obolibrary.org/obo/HP_0031021							
HP:0031022	biolink:PhenotypicFeature	Oropharyngeal squamous papilloma	A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].	NCIT:C6038	hp.json	Squamous papilloma of the uvula	http://purl.obolibrary.org/obo/HP_0031022							
HP:0031023	biolink:PhenotypicFeature	Multiple mucosal neuromas	Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.	NCIT:C6559	hp.json		http://purl.obolibrary.org/obo/HP_0031023							
HP:0031024	biolink:PhenotypicFeature	Cylindroma	A benign skin adnexal tumor of eccrine differentiation.		hp.json		http://purl.obolibrary.org/obo/HP_0031024							
HP:0031025	biolink:PhenotypicFeature	Gastric leiomyosarcoma	A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.		hp.json		http://purl.obolibrary.org/obo/HP_0031025							
HP:0031026	biolink:PhenotypicFeature	Snail-like ilia	The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.		hp.json	Snail-like pelvis|Snail-shaped ilia|Schneckenbecken dysplasia	http://purl.obolibrary.org/obo/HP_0031026							
HP:0031027	biolink:PhenotypicFeature	Internal notch of the femoral head	A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.		hp.json		http://purl.obolibrary.org/obo/HP_0031027							
HP:0031028	biolink:PhenotypicFeature	Lactescent serum	Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.		hp.json	Milk-like serum|Plasma lactescence	http://purl.obolibrary.org/obo/HP_0031028							
HP:0031029	biolink:PhenotypicFeature	Elevated carcinoembryonic antigen level	An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.		hp.json	Increased plasma CEA	http://purl.obolibrary.org/obo/HP_0031029							
HP:0031030	biolink:PhenotypicFeature	Elevated carcinoma antigen 125 level	An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.		hp.json	Increased plasma CA125	http://purl.obolibrary.org/obo/HP_0031030							
HP:0031031	biolink:PhenotypicFeature	Abnormal retinol-binding protein level	A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.		hp.json		http://purl.obolibrary.org/obo/HP_0031031							
HP:0031032	biolink:PhenotypicFeature	Decreased retinol-binding protein level	A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.		hp.json		http://purl.obolibrary.org/obo/HP_0031032							
HP:0031033	biolink:PhenotypicFeature	Impaired urinary acidification	The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.		hp.json	Renal acidification defect	http://purl.obolibrary.org/obo/HP_0031033							
HP:0031034	biolink:PhenotypicFeature	Abnormal insulin like growth factor binding protein acid labile subunit level	A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.		hp.json		http://purl.obolibrary.org/obo/HP_0031034							
HP:0031035	biolink:PhenotypicFeature	Chronic infection	Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.		hp.json		http://purl.obolibrary.org/obo/HP_0031035							
HP:0031036	biolink:PhenotypicFeature	Reduced growth-hormone binding protein level	A decreased blood concentration of growth hormone binding protein.		hp.json	Decreased plasma GH-binding protein	http://purl.obolibrary.org/obo/HP_0031036							
HP:0031037	biolink:PhenotypicFeature	Reduced insulin-like factor 3 level	Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.		hp.json	Reduced plasma INSL3 level	http://purl.obolibrary.org/obo/HP_0031037							
HP:0031038	biolink:PhenotypicFeature	Spermatogenesis maturation arrest	Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.		hp.json	Meiotic maturation arrest of spermatogenesis	http://purl.obolibrary.org/obo/HP_0031038							
HP:0031039	biolink:PhenotypicFeature	Early spermatogenesis maturation arrest	A type of maturation arrest in which only spermatogonia or spermatocytes are found.		hp.json		http://purl.obolibrary.org/obo/HP_0031039							
HP:0031040	biolink:PhenotypicFeature	Late spermatogenesis maturation arrest	A type of maturation arrest in which spermatids are detected without spermatozoa.		hp.json	Maturation arrest of spermatogenesis at spermatid stage	http://purl.obolibrary.org/obo/HP_0031040							
HP:0031041	biolink:PhenotypicFeature	Obstruction of the superior vena cava	Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.		hp.json	Superior vena cava obstruction|Superior vena cava syndrome	http://purl.obolibrary.org/obo/HP_0031041							
HP:0031042	biolink:PhenotypicFeature	Strawberry tongue	Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.		hp.json	Raspberry tongue	http://purl.obolibrary.org/obo/HP_0031042							
HP:0031043	biolink:PhenotypicFeature	Type A4 brachydactyly	A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.		hp.json		http://purl.obolibrary.org/obo/HP_0031043							
HP:0031044	biolink:PhenotypicFeature	Type A5 brachydactyly	A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.		hp.json		http://purl.obolibrary.org/obo/HP_0031044							
HP:0031045	biolink:PhenotypicFeature	Acral blistering	Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).		hp.json		http://purl.obolibrary.org/obo/HP_0031045							
HP:0031046	biolink:PhenotypicFeature	Absent soft palate	A developmental defect characterized by lack of a soft palate.		hp.json	Agenesis of the soft palate	http://purl.obolibrary.org/obo/HP_0031046							
HP:0031047	biolink:PhenotypicFeature	Paraproteinemia	An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.		hp.json	Monoclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/HP_0031047							
HP:0031048	biolink:PhenotypicFeature	Light-chain paraproteinemia	An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031048							
HP:0031049	biolink:PhenotypicFeature	Heavy-chain paraproteinemia	An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031049							
HP:0031050	biolink:PhenotypicFeature	Whole-immunoglobulin paraproteinemia	An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031050							
HP:0031051	biolink:PhenotypicFeature	Tarsal sclerosis	An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.		hp.json		http://purl.obolibrary.org/obo/HP_0031051							
HP:0031052	biolink:PhenotypicFeature	Elevated vascular endothelial growth factor level	Increased blood concentration of vascular endothelial growth factor (VEGF).		hp.json		http://purl.obolibrary.org/obo/HP_0031052							
HP:0031053	biolink:PhenotypicFeature	Coarctation in the transverse aortic arch	Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.		hp.json		http://purl.obolibrary.org/obo/HP_0031053							
HP:0031054	biolink:PhenotypicFeature	Long segment coarctation of the aorta	Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.		hp.json		http://purl.obolibrary.org/obo/HP_0031054							
HP:0031055	biolink:PhenotypicFeature	Abnormal branching pattern of left aortic arch	A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).		hp.json		http://purl.obolibrary.org/obo/HP_0031055							
HP:0031056	biolink:PhenotypicFeature	Fusiform cerebral aneurysm	A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.		hp.json	Intracranial fusiform aneurysm	http://purl.obolibrary.org/obo/HP_0031056							
HP:0031057	biolink:PhenotypicFeature	Skin fissure	A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.		hp.json	Cracked skin	http://purl.obolibrary.org/obo/HP_0031057							
HP:0031058	biolink:PhenotypicFeature	Impairment of activities of daily living	Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.		hp.json		http://purl.obolibrary.org/obo/HP_0031058							
HP:0031059	biolink:PhenotypicFeature	Impaired ability to bathe oneself	This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.		hp.json		http://purl.obolibrary.org/obo/HP_0031059							
HP:0031060	biolink:PhenotypicFeature	Impaired ability to dress oneself	This applies to an individual who needs help with dressing or needs to be completely dressed.		hp.json		http://purl.obolibrary.org/obo/HP_0031060							
HP:0031061	biolink:PhenotypicFeature	Impaired toileting ability	This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.		hp.json		http://purl.obolibrary.org/obo/HP_0031061							
HP:0031062	biolink:PhenotypicFeature	Impaired transferring ability	Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.		hp.json		http://purl.obolibrary.org/obo/HP_0031062							
HP:0031063	biolink:PhenotypicFeature	Impaired feeding ability	Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.		hp.json		http://purl.obolibrary.org/obo/HP_0031063							
HP:0031064	biolink:PhenotypicFeature	Impaired continence	Partial or total incontinence of bowel or bladder.		hp.json		http://purl.obolibrary.org/obo/HP_0031064							
HP:0031065	biolink:PhenotypicFeature	Abnormal ovarian morphology			hp.json		http://purl.obolibrary.org/obo/HP_0031065							
HP:0031066	biolink:PhenotypicFeature	Abnormal ovarian physiology	Any anomaly of ovarian function.		hp.json		http://purl.obolibrary.org/obo/HP_0031066							
HP:0031067	biolink:PhenotypicFeature	Empty ovarian follicle	A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.		hp.json	Empty follicle syndrome	http://purl.obolibrary.org/obo/HP_0031067							
HP:0031068	biolink:PhenotypicFeature	Increased femoral torsion	Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range.		hp.json		http://purl.obolibrary.org/obo/HP_0031068							
HP:0031069	biolink:PhenotypicFeature	Abnormal femoral torsion	Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.		hp.json		http://purl.obolibrary.org/obo/HP_0031069							
HP:0031070	biolink:PhenotypicFeature	Decreased femoral torsion	Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.		hp.json		http://purl.obolibrary.org/obo/HP_0031070							
HP:0031071	biolink:PhenotypicFeature	Abnormal endocrine morphology	Any anomaly of the structure of an organ ofthe endocrine system.		hp.json		http://purl.obolibrary.org/obo/HP_0031071							
HP:0031072	biolink:PhenotypicFeature	Abnormal endocrine physiology	Any anomaly of the function of the endocrine system.		hp.json		http://purl.obolibrary.org/obo/HP_0031072							
HP:0031073	biolink:PhenotypicFeature	Abnormal response to endocrine stimulation test	An anomalous response to a test that is designed to probe the function of the endocrine system.		hp.json		http://purl.obolibrary.org/obo/HP_0031073							
HP:0031074	biolink:PhenotypicFeature	Abnormal response to ACTH stimulation test	An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.		hp.json	Abnormal response to adrenocorticotropic-hormone stimulation test|Abnormal response to corticotropin stimulation test	http://purl.obolibrary.org/obo/HP_0031074							
HP:0031075	biolink:PhenotypicFeature	Abnormal response to insulin tolerance test	An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.		hp.json		http://purl.obolibrary.org/obo/HP_0031075							
HP:0031076	biolink:PhenotypicFeature	Impaired cortisol response to insulin stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).		hp.json		http://purl.obolibrary.org/obo/HP_0031076							
HP:0031077	biolink:PhenotypicFeature	Abnormal response to corticotropin releasing hormone stimulation test	An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.		hp.json	Abnormal response to CRH stimulation test	http://purl.obolibrary.org/obo/HP_0031077							
HP:0031078	biolink:PhenotypicFeature	Impaired cortisol response to corticotropin releasing hormone stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0031078							
HP:0031079	biolink:PhenotypicFeature	Impaired growth-hormone response to insulin stimulation test	Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).		hp.json		http://purl.obolibrary.org/obo/HP_0031079							
HP:0031080	biolink:PhenotypicFeature	Abnormal response to glucagon stimulation test	An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).		hp.json		http://purl.obolibrary.org/obo/HP_0031080							
HP:0031081	biolink:PhenotypicFeature	Impaired cortisol response to glucagon stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0031081							
HP:0031082	biolink:PhenotypicFeature	Impaired growth-hormone response to glucagon stimulation test	Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0031082							
HP:0031083	biolink:PhenotypicFeature	Abnormal response to human chorionic gonadotrophin stimulation test	An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.		hp.json	Abnormal response to hCG stimulation test	http://purl.obolibrary.org/obo/HP_0031083							
HP:0031084	biolink:PhenotypicFeature	Excessive insulin response to glucagon test	An abnormally high increase in insulin levels following a glucagon stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0031084							
HP:0031085	biolink:PhenotypicFeature	Decreased prealbumin level	A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.		hp.json		http://purl.obolibrary.org/obo/HP_0031085							
HP:0031086	biolink:PhenotypicFeature	Ectopic ovary	Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.		hp.json	Undescended ovary	http://purl.obolibrary.org/obo/HP_0031086							
HP:0031087	biolink:PhenotypicFeature	Absent pubertal growth spurt	The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.		hp.json	Absent adolescent growth spurt	http://purl.obolibrary.org/obo/HP_0031087							
HP:0031088	biolink:PhenotypicFeature	Vaginal dryness	Persistent vaginal dryness.		hp.json		http://purl.obolibrary.org/obo/HP_0031088							
HP:0031089	biolink:PhenotypicFeature	Palatal edema	Swelling related to fluid accumulation within the palate.		hp.json	Palatal oedema|Palate oedema|Palate edema	http://purl.obolibrary.org/obo/HP_0031089							
HP:0031090	biolink:PhenotypicFeature	Finger dactylitis	Fingers appear swollen and plump owing to inflammation of the complete finger.		hp.json	Sausage fingers	http://purl.obolibrary.org/obo/HP_0031090							
HP:0031091	biolink:PhenotypicFeature	Toe dactylitis	Toes appear swollen and plump owing to inflammation of the complete toe.		hp.json	Sausage toes	http://purl.obolibrary.org/obo/HP_0031091							
HP:0031092	biolink:PhenotypicFeature	Spindle-shaped finger	Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).		hp.json		http://purl.obolibrary.org/obo/HP_0031092							
HP:0031093	biolink:PhenotypicFeature	Abnormal breast morphology	Any anomaly of the structure of the breast.		hp.json		http://purl.obolibrary.org/obo/HP_0031093							
HP:0031094	biolink:PhenotypicFeature	Abnormal breast physiology	Any anomaly of the function of the breast.		hp.json		http://purl.obolibrary.org/obo/HP_0031094							
HP:0031095	biolink:PhenotypicFeature	Abnormal humerus morphology	Any anomaly of the structure of the humerus.		hp.json		http://purl.obolibrary.org/obo/HP_0031095							
HP:0031096	biolink:PhenotypicFeature	Delayed vertebral ossification	A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.		hp.json		http://purl.obolibrary.org/obo/HP_0031096							
HP:0031097	biolink:PhenotypicFeature	Abnormal thyroid-stimulating hormone level	Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.		hp.json	Abnormal TSH level|Abnormal circulating thyrotropin concentration|Abnormal thyrotropin level	http://purl.obolibrary.org/obo/HP_0031097							
HP:0031098	biolink:PhenotypicFeature	Decreased thyroid-stimulating hormone level	Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.		hp.json	Decreased plasma TSH|Decreased thyrotropin level	http://purl.obolibrary.org/obo/HP_0031098							
HP:0031099	biolink:PhenotypicFeature	Abnormal circulating inhibin level	Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.		hp.json		http://purl.obolibrary.org/obo/HP_0031099							
HP:0031100	biolink:PhenotypicFeature	Decreased inhibin B level	A reduced concentration of inhibin B in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031100							
HP:0031101	biolink:PhenotypicFeature	Abnormal circulating antimullerian hormone concentration	Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.		hp.json	Abnormal antimullerian hormone level	http://purl.obolibrary.org/obo/HP_0031101							
HP:0031102	biolink:PhenotypicFeature	Increased antimullerian hormone level	An elevation above the normal range of the antimullerian hormone in the circulation.		hp.json	Increased plasma AMH	http://purl.obolibrary.org/obo/HP_0031102							
HP:0031103	biolink:PhenotypicFeature	Decreased antimullerian hormone level	A reduction below the normal range of the antimullerian hormone in the circulation.		hp.json	Decreased plasma AMH	http://purl.obolibrary.org/obo/HP_0031103							
HP:0031104	biolink:PhenotypicFeature	Insulin receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.		hp.json		http://purl.obolibrary.org/obo/HP_0031104							
HP:0031105	biolink:PhenotypicFeature	Abnormal uterus morphology	Any anomaly of the structure of the uterus		hp.json		http://purl.obolibrary.org/obo/HP_0031105							
HP:0031106	biolink:PhenotypicFeature	T-shaped uterus	An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.		hp.json		http://purl.obolibrary.org/obo/HP_0031106							
HP:0031107	biolink:PhenotypicFeature	Decreased fibular diameter	Reduced width of the cross sectional diameter of the fibula.		hp.json	Thin fibula	http://purl.obolibrary.org/obo/HP_0031107							
HP:0031108	biolink:PhenotypicFeature	Triceps weakness	A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.		hp.json		http://purl.obolibrary.org/obo/HP_0031108							
HP:0031109	biolink:PhenotypicFeature	Agalactia	Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.		hp.json	Lactation incapacity	http://purl.obolibrary.org/obo/HP_0031109							
HP:0031110	biolink:PhenotypicFeature	Twin-to-twin transfusion	As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.		hp.json	Twin to twin transfusion syndrome	http://purl.obolibrary.org/obo/HP_0031110							
HP:0031111	biolink:PhenotypicFeature	Cutaneous hamartoma	A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.		hp.json	Skin hamartoma	http://purl.obolibrary.org/obo/HP_0031111							
HP:0031117	biolink:PhenotypicFeature	Purely bicuspid aortic valve	A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.		hp.json		http://purl.obolibrary.org/obo/HP_0031117							
HP:0031118	biolink:PhenotypicFeature	Single raphe bicuspid aortic valve	A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.		hp.json		http://purl.obolibrary.org/obo/HP_0031118							
HP:0031119	biolink:PhenotypicFeature	Bicuspid aortic valve with right-left cusp fusion	A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.		hp.json		http://purl.obolibrary.org/obo/HP_0031119							
HP:0031120	biolink:PhenotypicFeature	Bicuspid aortic valve with right-noncoronary cusp fusion	A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.		hp.json		http://purl.obolibrary.org/obo/HP_0031120							
HP:0031121	biolink:PhenotypicFeature	Bicuspid aortic valve with left-noncoronary cusp fusion	A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.		hp.json		http://purl.obolibrary.org/obo/HP_0031121							
HP:0031122	biolink:PhenotypicFeature	Two-raphe bicuspid aortic valve	A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.		hp.json		http://purl.obolibrary.org/obo/HP_0031122							
HP:0031123	biolink:PhenotypicFeature	Recurrent gastroenteritis	Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.		hp.json		http://purl.obolibrary.org/obo/HP_0031123							
HP:0031124	biolink:PhenotypicFeature	Decreased platelet thromboxane A2 receptor	Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).		hp.json		http://purl.obolibrary.org/obo/HP_0031124							
HP:0031125	biolink:PhenotypicFeature	Decreased platelet alpha-2A-adrenergic receptor	Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.		hp.json		http://purl.obolibrary.org/obo/HP_0031125							
HP:0031126	biolink:PhenotypicFeature	Impaired clot retraction	Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.		hp.json		http://purl.obolibrary.org/obo/HP_0031126							
HP:0031127	biolink:PhenotypicFeature	Impaired convulxin-induced platelet aggregation	Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.		hp.json		http://purl.obolibrary.org/obo/HP_0031127							
HP:0031128	biolink:PhenotypicFeature	Impaired collagen-related peptide-induced platelet aggregation	Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.		hp.json		http://purl.obolibrary.org/obo/HP_0031128							
HP:0031129	biolink:PhenotypicFeature	Impaired phorbol myristate acetate-induced platelet aggregation	Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.		hp.json		http://purl.obolibrary.org/obo/HP_0031129							
HP:0031130	biolink:PhenotypicFeature	Impaired calcium ionophore-induced platelet aggregation	Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.		hp.json	Impaired Ca ionophore-induced platelet aggregation|Impaired Ca2+ ionophore-induced platelet aggregation	http://purl.obolibrary.org/obo/HP_0031130							
HP:0031131	biolink:PhenotypicFeature	Abnormal platelet phosphatidylserine exposure	An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.		hp.json		http://purl.obolibrary.org/obo/HP_0031131							
HP:0031132	biolink:PhenotypicFeature	Impaired annexin V binding to platelet phosphatidylserine	Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031132							
HP:0031133	biolink:PhenotypicFeature	Increased annexin V binding to platelet phosphatidylserine	Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031133							
HP:0031134	biolink:PhenotypicFeature	Cor triatrium sinister	A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.		hp.json		http://purl.obolibrary.org/obo/HP_0031134							
HP:0031135	biolink:PhenotypicFeature	Triggered by physical trauma	Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).		hp.json	Physical trauma triggered symptoms	http://purl.obolibrary.org/obo/HP_0031135							
HP:0031136	biolink:PhenotypicFeature	Decreased acrosin in sperm head	A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.		hp.json		http://purl.obolibrary.org/obo/HP_0031136							
HP:0031137	biolink:PhenotypicFeature	Storage in hepatocytes	Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.		hp.json		http://purl.obolibrary.org/obo/HP_0031137							
HP:0031138	biolink:PhenotypicFeature	Abnormal B-type natriuretic peptide level	A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).		hp.json		http://purl.obolibrary.org/obo/HP_0031138							
HP:0031139	biolink:PhenotypicFeature	Frog-leg posture	A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.		hp.json		http://purl.obolibrary.org/obo/HP_0031139							
HP:0031140	biolink:PhenotypicFeature	Abnormal liver sonography	An abnormal appearance of the liver or any of its components on sonography (ultrasound).		hp.json		http://purl.obolibrary.org/obo/HP_0031140							
HP:0031141	biolink:PhenotypicFeature	Increased hepatic echogenicity	Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.		hp.json	Hyperechogenic liver	http://purl.obolibrary.org/obo/HP_0031141							
HP:0031142	biolink:PhenotypicFeature	Abnormal hepatic echogenicity	Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).		hp.json		http://purl.obolibrary.org/obo/HP_0031142							
HP:0031143	biolink:PhenotypicFeature	Decreased hepatic echogenicity	Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.		hp.json	Hypoechogenic liver	http://purl.obolibrary.org/obo/HP_0031143							
HP:0031144	biolink:PhenotypicFeature	Coarsened hepatic echotexture	The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.		hp.json		http://purl.obolibrary.org/obo/HP_0031144							
HP:0031145	biolink:PhenotypicFeature	Starry sky appearance on hepatic sonography	An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).		hp.json		http://purl.obolibrary.org/obo/HP_0031145							
HP:0031146	biolink:PhenotypicFeature	Impaired oral bolus formation	An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.		hp.json		http://purl.obolibrary.org/obo/HP_0031146							
HP:0031150	biolink:PhenotypicFeature	Vitreomacular adhesion	Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.		hp.json	VMA	http://purl.obolibrary.org/obo/HP_0031150							
HP:0031151	biolink:PhenotypicFeature	Vitreomacular traction	Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.		hp.json	VMT	http://purl.obolibrary.org/obo/HP_0031151							
HP:0031152	biolink:PhenotypicFeature	Full-thickness macular hole	Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.		hp.json	FTMH	http://purl.obolibrary.org/obo/HP_0031152							
HP:0031153	biolink:PhenotypicFeature	Membranous vitreous appearance	Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.		hp.json	Membranous anomaly|Membranous vitreous|Membranous vitreous phenotype	http://purl.obolibrary.org/obo/HP_0031153							
HP:0031154	biolink:PhenotypicFeature	Beaded vitreous appearance	Vitreous humor of the eye displaying beaded bundles of irregular diameters.		hp.json		http://purl.obolibrary.org/obo/HP_0031154							
HP:0031155	biolink:PhenotypicFeature	Increased Arden ratio of electrooculogram	An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.		hp.json	Increased Arden ratio of EOG	http://purl.obolibrary.org/obo/HP_0031155							
HP:0031156	biolink:PhenotypicFeature	Decreased platelet glycoprotein Ib	Decreased platelet cell membrane concentration of glycoprotein Ib.		hp.json		http://purl.obolibrary.org/obo/HP_0031156							
HP:0031157	biolink:PhenotypicFeature	Carotid cavernous fistula	An abnormal connection between a carotid artery and the cavernous sinus.		hp.json	Caroticocavernous fistula	http://purl.obolibrary.org/obo/HP_0031157							
HP:0031158	biolink:PhenotypicFeature	Widened atrophic scar	An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.		hp.json		http://purl.obolibrary.org/obo/HP_0031158							
HP:0031159	biolink:PhenotypicFeature	Thinning of Descemet membrane	A reduction in the thickness of Descemet's membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0031159							
HP:0031160	biolink:PhenotypicFeature	Myelokathexis	Impaired egress of mature neutrophils from bone marrow causing neutropenia.		hp.json		http://purl.obolibrary.org/obo/HP_0031160							
HP:0031161	biolink:PhenotypicFeature	Reduced brain glutamate level by MRS	An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json		http://purl.obolibrary.org/obo/HP_0031161							
HP:0031162	biolink:PhenotypicFeature	Impaired oropharyngeal swallow response	Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.		hp.json		http://purl.obolibrary.org/obo/HP_0031162							
HP:0031163	biolink:PhenotypicFeature	Low femoral bone density	Reduced bone mineral density of the femur.		hp.json	Low femur bone density	http://purl.obolibrary.org/obo/HP_0031163							
HP:0031164	biolink:PhenotypicFeature	Growth arrest lines	Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.		hp.json	Growth resumption lines|Harris lines	http://purl.obolibrary.org/obo/HP_0031164							
HP:0031165	biolink:PhenotypicFeature	Multifocal seizures	Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).		hp.json	Multifocal onset seizures	http://purl.obolibrary.org/obo/HP_0031165							
HP:0031166	biolink:PhenotypicFeature	Eyelid myokymia	Involuntary, fine, continuous, undulating contractions of the eyelid.		hp.json	Myokymia orbicularis|Orbicularis myokymia	http://purl.obolibrary.org/obo/HP_0031166							
HP:0031167	biolink:PhenotypicFeature	Triggered by ingestion of potassium-rich food	Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.		hp.json	Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms	http://purl.obolibrary.org/obo/HP_0031167							
HP:0031169	biolink:PhenotypicFeature	Postterm pregnancy	A pregnancy that extends to 42 weeks of gestation or beyond.		hp.json		http://purl.obolibrary.org/obo/HP_0031169							
HP:0031170	biolink:PhenotypicFeature	Female fetal virilization	Fetal masculinization of female external genitalia.		hp.json	Female foetal virilization	http://purl.obolibrary.org/obo/HP_0031170							
HP:0031171	biolink:PhenotypicFeature	Femoral spur	A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.		hp.json	Spurring of femur	http://purl.obolibrary.org/obo/HP_0031171							
HP:0031172	biolink:PhenotypicFeature	Sectoral retinitis pigmentosa	A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.		hp.json		http://purl.obolibrary.org/obo/HP_0031172							
HP:0031173	biolink:PhenotypicFeature	Tibial spur	A bony projection (spur, osteophyte) originating from the tibia.		hp.json	Spurring of tibiae	http://purl.obolibrary.org/obo/HP_0031173							
HP:0031174	biolink:PhenotypicFeature	Double-layered patella	An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.		hp.json		http://purl.obolibrary.org/obo/HP_0031174							
HP:0031175	biolink:PhenotypicFeature	Absent cervical vertebra	A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.		hp.json		http://purl.obolibrary.org/obo/HP_0031175							
HP:0031176	biolink:PhenotypicFeature	Absent thoracic vertebra	A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.		hp.json		http://purl.obolibrary.org/obo/HP_0031176							
HP:0031177	biolink:PhenotypicFeature	Finger flexor weakness	Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.		hp.json		http://purl.obolibrary.org/obo/HP_0031177							
HP:0031178	biolink:PhenotypicFeature	Fixed head retroflexion	Head is bent in the posterior direction in a permanent fashion.		hp.json		http://purl.obolibrary.org/obo/HP_0031178							
HP:0031179	biolink:PhenotypicFeature	Nuchal rigidity	Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.		hp.json	Meningism	http://purl.obolibrary.org/obo/HP_0031179							
HP:0031180	biolink:PhenotypicFeature	Erythema migrans	An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).		hp.json	Erythema chronicum migrans	http://purl.obolibrary.org/obo/HP_0031180							
HP:0031181	biolink:PhenotypicFeature	Necrolytic migratory erythema	Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.		hp.json		http://purl.obolibrary.org/obo/HP_0031181							
HP:0031185	biolink:PhenotypicFeature	Increased circulating NT-proBNP concentration	An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).		hp.json	Increased NT-proBNP level	http://purl.obolibrary.org/obo/HP_0031185							
HP:0031186	biolink:PhenotypicFeature	Abnormal circulating deoxycorticosterone level	An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.		hp.json		http://purl.obolibrary.org/obo/HP_0031186							
HP:0031187	biolink:PhenotypicFeature	Abnormal circulating pregnenolone concentration	An abnormality of the concentration of pregnenolone in the blood.		hp.json	Abnormality of circulating pregnenolone level	http://purl.obolibrary.org/obo/HP_0031187							
HP:0031188	biolink:PhenotypicFeature	Genital edema	A buildup of fluid that causes swelling in the soft tissues of the genital area.		hp.json	Genital oedema	http://purl.obolibrary.org/obo/HP_0031188							
HP:0031189	biolink:PhenotypicFeature	Wrist drop	A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.		hp.json		http://purl.obolibrary.org/obo/HP_0031189							
HP:0031190	biolink:PhenotypicFeature	Superficial dermal perivascular inflammatory infiltrate	Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.		hp.json	Superficial perivascular inflammatory infiltrate	http://purl.obolibrary.org/obo/HP_0031190							
HP:0031191	biolink:PhenotypicFeature	Deep dermal perivascular inflammatory infiltrate	Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.		hp.json	Deep perivascular inflammatory infiltrate	http://purl.obolibrary.org/obo/HP_0031191							
HP:0031192	biolink:PhenotypicFeature	Abnormal morphology of left ventricular trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).		hp.json		http://purl.obolibrary.org/obo/HP_0031192							
HP:0031193	biolink:PhenotypicFeature	Abnormal morphology of right ventricular trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).		hp.json		http://purl.obolibrary.org/obo/HP_0031193							
HP:0031194	biolink:PhenotypicFeature	Increased density of left ventricular trabeculae	An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).		hp.json		http://purl.obolibrary.org/obo/HP_0031194							
HP:0031195	biolink:PhenotypicFeature	Apical hypertrabeculation of the left ventricle	An increased number and density of the trabeculae in the apex (tip) of the left ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0031195							
HP:0031196	biolink:PhenotypicFeature	Thin myocardium compact layer	Reduced thickness of the outer, dense layer of the myocardium.		hp.json		http://purl.obolibrary.org/obo/HP_0031196							
HP:0031197	biolink:PhenotypicFeature	Cellular urinary casts	A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).		hp.json	Cellular casts	http://purl.obolibrary.org/obo/HP_0031197							
HP:0031198	biolink:PhenotypicFeature	Renal tubular epithelial cell casts	A type of cellular urinary cast composed of renal tubular epithelial cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031198							
HP:0031199	biolink:PhenotypicFeature	Acellular urinary casts	A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.		hp.json	Acellular casts	http://purl.obolibrary.org/obo/HP_0031199							
HP:0031200	biolink:PhenotypicFeature	Hyaline casts	A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.		hp.json		http://purl.obolibrary.org/obo/HP_0031200							
HP:0031201	biolink:PhenotypicFeature	Granular casts	A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.		hp.json		http://purl.obolibrary.org/obo/HP_0031201							
HP:0031202	biolink:PhenotypicFeature	Waxy casts	A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.		hp.json		http://purl.obolibrary.org/obo/HP_0031202							
HP:0031203	biolink:PhenotypicFeature	Fatty casts	A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.		hp.json		http://purl.obolibrary.org/obo/HP_0031203							
HP:0031204	biolink:PhenotypicFeature	Bacterial cell casts	A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.		hp.json		http://purl.obolibrary.org/obo/HP_0031204							
HP:0031205	biolink:PhenotypicFeature	Reduced lysosomal acid lipase activity	Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.		hp.json	Reduced leukocyte acid lipase activity	http://purl.obolibrary.org/obo/HP_0031205							
HP:0031206	biolink:PhenotypicFeature	Striatal T2 hyperintensity	Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.		hp.json		http://purl.obolibrary.org/obo/HP_0031206							
HP:0031207	biolink:PhenotypicFeature	Hepatic hemangioma	A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.		hp.json	Hemangioma of the liver|Liver hemangioma	http://purl.obolibrary.org/obo/HP_0031207							
HP:0031208	biolink:PhenotypicFeature	Increased pituitary glycoprotein hormone alpha subunit level	An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.		hp.json	Increased pituitary glycoprotein alpha subunit level|Increased pituitary glycoprotein polypeptide alpha subunit level	http://purl.obolibrary.org/obo/HP_0031208							
HP:0031209	biolink:PhenotypicFeature	Decreased circulating lipoprotein lipase concentration	Reduction in the level of lipoprotein lipase in the blood.		hp.json	Decreased lipoprotein lipase level	http://purl.obolibrary.org/obo/HP_0031209							
HP:0031210	biolink:PhenotypicFeature	Abnormal circulating hyaluronic acid concentration	A deviation from the normal concentration of hyaluronic acid in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031210							
HP:0031211	biolink:PhenotypicFeature	Elevated cholesterol ester level	An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.		hp.json	Elevated cholesteryl ester level|Increased cholesterol esters|Increased cholesteryl esters	http://purl.obolibrary.org/obo/HP_0031211							
HP:0031212	biolink:PhenotypicFeature	Abnormal circulating progesterone level			hp.json		http://purl.obolibrary.org/obo/HP_0031212							
HP:0031213	biolink:PhenotypicFeature	Elevated circulating 17-hydroxyprogesterone	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.json	Elevated circulating 17-OHP	http://purl.obolibrary.org/obo/HP_0031213							
HP:0031214	biolink:PhenotypicFeature	Decreased circulating dehydroepiandrosterone concentration			hp.json	Decreased circulating dehydroepiandrosterone level	http://purl.obolibrary.org/obo/HP_0031214							
HP:0031215	biolink:PhenotypicFeature	Decreased circulating dehydroepiandrosterone-sulfate concentration	A reduced concentration of dehydroepiandrosterone-sulfate in the blood.		hp.json	Decreased circulating dehydroepiandrosterone-sulfate level	http://purl.obolibrary.org/obo/HP_0031215							
HP:0031216	biolink:PhenotypicFeature	Increased circulating progesterone	An elevated concentration of progesterone in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031216							
HP:0031217	biolink:PhenotypicFeature	Hot flashes	Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.		hp.json		http://purl.obolibrary.org/obo/HP_0031217							
HP:0031218	biolink:PhenotypicFeature	Inappropriate antidiuretic hormone secretion	A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.		hp.json	Inappropriate ADH secretion|SIADH|Syndrome of inappropriate antidiuretic hormone secretion	http://purl.obolibrary.org/obo/HP_0031218							
HP:0031219	biolink:PhenotypicFeature	Reduced radioactive iodine uptake	A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.		hp.json		http://purl.obolibrary.org/obo/HP_0031219							
HP:0031220	biolink:PhenotypicFeature	Increased radioactive iodine uptake	An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.		hp.json		http://purl.obolibrary.org/obo/HP_0031220							
HP:0031221	biolink:PhenotypicFeature	Abnormal radioactive iodine uptake test result	Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.		hp.json		http://purl.obolibrary.org/obo/HP_0031221							
HP:0031222	biolink:PhenotypicFeature	Increased circulating thyroxine-binding globulin level	An elevated concentration of thyroxine-binding globulin (TBG) in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031222							
HP:0031223	biolink:PhenotypicFeature	Focal pancreatic islet hyperplasia	Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.		hp.json		http://purl.obolibrary.org/obo/HP_0031223							
HP:0031224	biolink:PhenotypicFeature	Diffuse pancreatic islet hyperplasia	Hyperplasia of the islets of Langerhans with a generalized distribution.		hp.json		http://purl.obolibrary.org/obo/HP_0031224							
HP:0031225	biolink:PhenotypicFeature	Intrapulmonary shunt	Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.		hp.json	Intrapulmonary shunting	http://purl.obolibrary.org/obo/HP_0031225							
HP:0031226	biolink:PhenotypicFeature	Perinephric fluid collection	An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.		hp.json		http://purl.obolibrary.org/obo/HP_0031226							
HP:0031227	biolink:PhenotypicFeature	Nasopharyngeal teratoma	A teratoma arising in the nasopharyngeal region.		hp.json		http://purl.obolibrary.org/obo/HP_0031227							
HP:0031228	biolink:PhenotypicFeature	Abnormal incisura morphology	An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.		hp.json		http://purl.obolibrary.org/obo/HP_0031228							
HP:0031229	biolink:PhenotypicFeature	Increased incisura length	The length of the incisura from the upper to lower border is greater than that observed in the average population.		hp.json		http://purl.obolibrary.org/obo/HP_0031229							
HP:0031230	biolink:PhenotypicFeature	Decreased incisura length	The length of the incisura from the upper to lower border is less than that observed in the average population.		hp.json		http://purl.obolibrary.org/obo/HP_0031230							
HP:0031231	biolink:PhenotypicFeature	Narrow incisura width	Width of the incisura from the anterior to posterior border less than that observed in the average population.		hp.json		http://purl.obolibrary.org/obo/HP_0031231							
HP:0031232	biolink:PhenotypicFeature	Increased incisura width	Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.		hp.json		http://purl.obolibrary.org/obo/HP_0031232							
HP:0031233	biolink:PhenotypicFeature	Horizontal inferior border of scapula	A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).		hp.json	Squaring of the inferior scapulae|Squaring of the scapula	http://purl.obolibrary.org/obo/HP_0031233							
HP:0031234	biolink:PhenotypicFeature	Neutrophilic infiltration of the skin	A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).		hp.json		http://purl.obolibrary.org/obo/HP_0031234							
HP:0031235	biolink:PhenotypicFeature	Predominantly epidermal neutrophilic infiltrate	Collection of neutrophils in the epidermis.		hp.json		http://purl.obolibrary.org/obo/HP_0031235							
HP:0031236	biolink:PhenotypicFeature	Predominantly dermal neutrophilic infiltrate	Collection of neutrophils in the dermis.		hp.json		http://purl.obolibrary.org/obo/HP_0031236							
HP:0031237	biolink:PhenotypicFeature	Internally nucleated skeletal muscle fibers	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.json	Internally nucleated skeletal muscle fibres	http://purl.obolibrary.org/obo/HP_0031237							
HP:0031238	biolink:PhenotypicFeature	Necklace skeletal muscle fibers	A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.		hp.json	Necklace skeletal muscle fibres	http://purl.obolibrary.org/obo/HP_0031238							
HP:0031239	biolink:PhenotypicFeature	Extrafoveal choroidal neovascularization	A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.		hp.json		http://purl.obolibrary.org/obo/HP_0031239							
HP:0031240	biolink:PhenotypicFeature	Juxtafoveal choroidal neovascularization	A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.		hp.json		http://purl.obolibrary.org/obo/HP_0031240							
HP:0031241	biolink:PhenotypicFeature	Subfoveal choroidal neovascularization	A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.		hp.json		http://purl.obolibrary.org/obo/HP_0031241							
HP:0031242	biolink:PhenotypicFeature	Decreased circulating chylomicron concentration	Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.		hp.json	Decreased circulating chylomicron levels|Hypochylomicronemia	http://purl.obolibrary.org/obo/HP_0031242							
HP:0031243	biolink:PhenotypicFeature	Decreased VLDL cholesterol concentration	A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.		hp.json	Decreased circulating very-low-density lipoprotein levels	http://purl.obolibrary.org/obo/HP_0031243							
HP:0031244	biolink:PhenotypicFeature	Swollen lip	Enlargement of the lip typically due to fluid buildup or inflammation.		hp.json	Swelling of the lip	http://purl.obolibrary.org/obo/HP_0031244							
HP:0031245	biolink:PhenotypicFeature	Productive cough	A cough that produces phlegm or mucus.		hp.json	Wet cough|Cough with mucus production	http://purl.obolibrary.org/obo/HP_0031245							
HP:0031246	biolink:PhenotypicFeature	Nonproductive cough	A cough that does not produce phlegm or mucus.		hp.json	Dry cough|Dry coughing	http://purl.obolibrary.org/obo/HP_0031246							
HP:0031247	biolink:PhenotypicFeature	Whooping cough	A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.		hp.json		http://purl.obolibrary.org/obo/HP_0031247							
HP:0031248	biolink:PhenotypicFeature	Palmar pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.		hp.json	Itchy palm	http://purl.obolibrary.org/obo/HP_0031248							
HP:0031249	biolink:PhenotypicFeature	Parageusia	A distortion of the sense of taste, often characterized by the sensation of a metallic taste.		hp.json	Altered sense of taste|Metallic taste|Metallic taste in mouth|Dysgeusia	http://purl.obolibrary.org/obo/HP_0031249							
HP:0031250	biolink:PhenotypicFeature	Lip fissure	A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0031250							
HP:0031251	biolink:PhenotypicFeature	Abnormal subclavian artery morphology	Any anomaly of a subclavian artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031251							
HP:0031252	biolink:PhenotypicFeature	Dilated left subclavian artery	Abnormally increased caliber of the left subclavian artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031252							
HP:0031253	biolink:PhenotypicFeature	Anomalous origin of left subclavian artery	Origin of the left subclavian artery from an anomalous anatomical location.		hp.json		http://purl.obolibrary.org/obo/HP_0031253							
HP:0031254	biolink:PhenotypicFeature	Thalamic arteriovenous malformation	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.		hp.json		http://purl.obolibrary.org/obo/HP_0031254							
HP:0031255	biolink:PhenotypicFeature	Hypothalamic arteriovenous malformation	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.		hp.json		http://purl.obolibrary.org/obo/HP_0031255							
HP:0031256	biolink:PhenotypicFeature	Optic nerve arteriovenous malformation	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0031256							
HP:0031257	biolink:PhenotypicFeature	Arteriovenous malformation of the maxilla	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.		hp.json		http://purl.obolibrary.org/obo/HP_0031257							
HP:0031258	biolink:PhenotypicFeature	Delirium	A state of sudden and severe confusion.		hp.json		http://purl.obolibrary.org/obo/HP_0031258							
HP:0031259	biolink:PhenotypicFeature	Oophoritis	An inflammation of the ovary or ovaries.		hp.json	Inflammed ovary	http://purl.obolibrary.org/obo/HP_0031259							
HP:0031260	biolink:PhenotypicFeature	Triangular tibia	A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.		hp.json		http://purl.obolibrary.org/obo/HP_0031260							
HP:0031261	biolink:PhenotypicFeature	Bladder polyp	An abnormal growth that projects from the mucous membrane of the urinary bladder.		hp.json		http://purl.obolibrary.org/obo/HP_0031261							
HP:0031263	biolink:PhenotypicFeature	Abnormal renal corpuscle morphology	Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.		hp.json		http://purl.obolibrary.org/obo/HP_0031263							
HP:0031264	biolink:PhenotypicFeature	Abnormal Bowman capsule morphology	A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.		hp.json	Abnormal morphology of Bowman capsule|Abnormal morphology of Bowman's capsule|Abnormal renal glomerular capsule morphology	http://purl.obolibrary.org/obo/HP_0031264							
HP:0031265	biolink:PhenotypicFeature	Abnormal glomerular visceral epithelial cell morphology	Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.		hp.json	Abnormal podocyte morphology|Abnormal visceral epithelial cell morphology	http://purl.obolibrary.org/obo/HP_0031265							
HP:0031266	biolink:PhenotypicFeature	Podocyte foot process effacement	An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.		hp.json	Loss of primary podocyte processes	http://purl.obolibrary.org/obo/HP_0031266							
HP:0031267	biolink:PhenotypicFeature	Abnormal CD69 upregulation upon TCR activation	Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.		hp.json		http://purl.obolibrary.org/obo/HP_0031267							
HP:0031268	biolink:PhenotypicFeature	Decreased CD69 upregulation upon TCR activation	Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).		hp.json		http://purl.obolibrary.org/obo/HP_0031268							
HP:0031269	biolink:PhenotypicFeature	Abnormal CD25 upregulation upon TCR activation	Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.		hp.json		http://purl.obolibrary.org/obo/HP_0031269							
HP:0031270	biolink:PhenotypicFeature	Decreased CD25 upregulation upon TCR activation	Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).		hp.json	Poor CD25 upregulation upon TCR activation|Reduced IL2RA upregulation upon TCR activation	http://purl.obolibrary.org/obo/HP_0031270							
HP:0031271	biolink:PhenotypicFeature	Absent ankle pulse	The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.		hp.json		http://purl.obolibrary.org/obo/HP_0031271							
HP:0031272	biolink:PhenotypicFeature	Pulmonary arterial atherosclerosis	Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031272							
HP:0031273	biolink:PhenotypicFeature	Shock	The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.		hp.json		http://purl.obolibrary.org/obo/HP_0031273							
HP:0031274	biolink:PhenotypicFeature	Hypovolemic shock	A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.		hp.json		http://purl.obolibrary.org/obo/HP_0031274							
HP:0031275	biolink:PhenotypicFeature	Distributive shock	A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage		hp.json		http://purl.obolibrary.org/obo/HP_0031275							
HP:0031276	biolink:PhenotypicFeature	Obstructive shock	A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).		hp.json		http://purl.obolibrary.org/obo/HP_0031276							
HP:0031278	biolink:PhenotypicFeature	Abnormal thoracic duct morphology	Any structural anomaly of the thoracic duct.		hp.json		http://purl.obolibrary.org/obo/HP_0031278							
HP:0031279	biolink:PhenotypicFeature	Abnormal response to gonadotropin-releasing hormone stimulation test	An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).		hp.json	Abnormal response to GnRH stimulation test	http://purl.obolibrary.org/obo/HP_0031279							
HP:0031280	biolink:PhenotypicFeature	Increased LH response to gonadotropin-releasing hormone stimulation test	An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0031280							
HP:0031281	biolink:PhenotypicFeature	Sialadenitis	Inflammation of a salivary gland.		hp.json		http://purl.obolibrary.org/obo/HP_0031281							
HP:0031282	biolink:PhenotypicFeature	Malalignment of the great toenail	A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.		hp.json		http://purl.obolibrary.org/obo/HP_0031282							
HP:0031283	biolink:PhenotypicFeature	Tufted hairs	The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.		hp.json		http://purl.obolibrary.org/obo/HP_0031283							
HP:0031284	biolink:PhenotypicFeature	Flushing	Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.		hp.json		http://purl.obolibrary.org/obo/HP_0031284							
HP:0031285	biolink:PhenotypicFeature	Abnormal perifollicular morphology	Any structural anomaly in the areas surrounding the hair follicles.		hp.json		http://purl.obolibrary.org/obo/HP_0031285							
HP:0031286	biolink:PhenotypicFeature	Perifollicular erythema	Redness surrounding the hair follicles.		hp.json		http://purl.obolibrary.org/obo/HP_0031286							
HP:0031287	biolink:PhenotypicFeature	Seborrheic keratosis	A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.		hp.json	Senile wart|Basal cell papilloma|Seborrheic verruca	http://purl.obolibrary.org/obo/HP_0031287							
HP:0031288	biolink:PhenotypicFeature	Cobblestone-like hyperkeratosis	The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.		hp.json		http://purl.obolibrary.org/obo/HP_0031288							
HP:0031289	biolink:PhenotypicFeature	White papule	A papule with white color.		hp.json		http://purl.obolibrary.org/obo/HP_0031289							
HP:0031290	biolink:PhenotypicFeature	Tuberous xanthoma	A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.		hp.json		http://purl.obolibrary.org/obo/HP_0031290							
HP:0031291	biolink:PhenotypicFeature	Ichthyosis follicularis	Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.		hp.json		http://purl.obolibrary.org/obo/HP_0031291							
HP:0031292	biolink:PhenotypicFeature	Cutaneous abscess	A circumscribed area of pus or necrotic debris in the skin.		hp.json	Skin abscess	http://purl.obolibrary.org/obo/HP_0031292							
HP:0031293	biolink:PhenotypicFeature	Digital pitting scar	Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.		hp.json		http://purl.obolibrary.org/obo/HP_0031293							
HP:0031294	biolink:PhenotypicFeature	Hypoplastic right atrium	Underdeveloped, small right heart atrium.		hp.json		http://purl.obolibrary.org/obo/HP_0031294							
HP:0031295	biolink:PhenotypicFeature	Left atrial enlargement	Increase in size of the left atrium.	Fyler:3011|Fyler:3020	hp.json	Enlarged heart left atrium	http://purl.obolibrary.org/obo/HP_0031295							
HP:0031296	biolink:PhenotypicFeature	Atrial septal hypertrophy	An abnormal increase in the thickness of the atrial septum.		hp.json		http://purl.obolibrary.org/obo/HP_0031296							
HP:0031297	biolink:PhenotypicFeature	Unroofed coronary sinus	Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.		hp.json		http://purl.obolibrary.org/obo/HP_0031297							
HP:0031298	biolink:PhenotypicFeature	Coronary sinus enlargement	Abnormal increase in size of the coronary sinus.		hp.json	Coronary sinus dilatation|Enlarged coronary sinus	http://purl.obolibrary.org/obo/HP_0031298							
HP:0031299	biolink:PhenotypicFeature	Elevated left atrial pressure	An abnormal increase in magnitude of the pressure in the left atrium.		hp.json		http://purl.obolibrary.org/obo/HP_0031299							
HP:0031300	biolink:PhenotypicFeature	Abnormal circulating properdin level	A deviation from the normal concentration of properdin in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031300							
HP:0031301	biolink:PhenotypicFeature	Peripheral arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.		hp.json	Peripheral artery calcification	http://purl.obolibrary.org/obo/HP_0031301							
HP:0031302	biolink:PhenotypicFeature	Lower extremity peripheral arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.		hp.json	Lower extremity peripheral artery calcification	http://purl.obolibrary.org/obo/HP_0031302							
HP:0031303	biolink:PhenotypicFeature	Femoral arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031303							
HP:0031304	biolink:PhenotypicFeature	Iliac arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031304							
HP:0031305	biolink:PhenotypicFeature	Tibial arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031305							
HP:0031306	biolink:PhenotypicFeature	Intracranial arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).		hp.json		http://purl.obolibrary.org/obo/HP_0031306							
HP:0031307	biolink:PhenotypicFeature	Internal carotid artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031307							
HP:0031308	biolink:PhenotypicFeature	Vertebral artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031308							
HP:0031309	biolink:PhenotypicFeature	Cerebral artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031309							
HP:0031310	biolink:PhenotypicFeature	Basilar artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031310							
HP:0031311	biolink:PhenotypicFeature	Middle cerebral artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031311							
HP:0031313	biolink:PhenotypicFeature	Abdominal aortic calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.		hp.json		http://purl.obolibrary.org/obo/HP_0031313							
HP:0031314	biolink:PhenotypicFeature	Carotid artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031314							
HP:0031315	biolink:PhenotypicFeature	External carotid artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031315							
HP:0031316	biolink:PhenotypicFeature	Abnormal ventricular myocardium morphology	A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0031316							
HP:0031317	biolink:PhenotypicFeature	Fatty replacement of ventricular myocardial tissue	Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.		hp.json	Fatty infiltration of cardiac ventricle|Intramyocardial fat infiltration	http://purl.obolibrary.org/obo/HP_0031317							
HP:0031318	biolink:PhenotypicFeature	Myofiber disarray	A nonparallel arrangement of cardiac myocytes.		hp.json	Myocardial fibre disarray|Myocardial fiber disarray	http://purl.obolibrary.org/obo/HP_0031318							
HP:0031319	biolink:PhenotypicFeature	Cardiomyocyte hypertrophy	An abnormal increase in the volume of cardiac myocytes.		hp.json	Myocyte cellular hypertrophy	http://purl.obolibrary.org/obo/HP_0031319							
HP:0031320	biolink:PhenotypicFeature	Cardiomyocyte mitochondrial proliferation	An abnormal increase in the number of mitochondria per cardiac myocyte.		hp.json		http://purl.obolibrary.org/obo/HP_0031320							
HP:0031321	biolink:PhenotypicFeature	Myocardial immune cell infiltration	An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).		hp.json		http://purl.obolibrary.org/obo/HP_0031321							
HP:0031322	biolink:PhenotypicFeature	Myocardial lymphocytic infiltration	An increase in the number of lymphocytes in myocardial tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0031322							
HP:0031323	biolink:PhenotypicFeature	Myocardial eosinophilic infiltration	An increase in the number of eosinophils in myocardial tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0031323							
HP:0031324	biolink:PhenotypicFeature	Myocardial multinucleated giant cells	The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.		hp.json		http://purl.obolibrary.org/obo/HP_0031324							
HP:0031325	biolink:PhenotypicFeature	Myocardial granulomatous infiltrates	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.		hp.json		http://purl.obolibrary.org/obo/HP_0031325							
HP:0031326	biolink:PhenotypicFeature	Monoclonal light chain cardiac amyloidosis	A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031326							
HP:0031327	biolink:PhenotypicFeature	Transthyretin cardiac amyloidosis	A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.		hp.json	TTR cardiac amyloidosis	http://purl.obolibrary.org/obo/HP_0031327							
HP:0031328	biolink:PhenotypicFeature	Perivascular cardiac fibrosis	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.		hp.json		http://purl.obolibrary.org/obo/HP_0031328							
HP:0031329	biolink:PhenotypicFeature	Interstitial cardiac fibrosis	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.		hp.json		http://purl.obolibrary.org/obo/HP_0031329							
HP:0031330	biolink:PhenotypicFeature	Perivascular myocardial immune cell infiltration	An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.		hp.json		http://purl.obolibrary.org/obo/HP_0031330							
HP:0031331	biolink:PhenotypicFeature	Abnormal cardiomyocyte morphology	Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.		hp.json	Abnormal cardiac muscle cell morphology	http://purl.obolibrary.org/obo/HP_0031331							
HP:0031332	biolink:PhenotypicFeature	Cardiomyocyte degeneration	Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.		hp.json		http://purl.obolibrary.org/obo/HP_0031332							
HP:0031333	biolink:PhenotypicFeature	Myocardial sarcomeric disarray	A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.		hp.json	Myocardial sarcomere disarray	http://purl.obolibrary.org/obo/HP_0031333							
HP:0031334	biolink:PhenotypicFeature	Cardiomyocyte inclusion bodies	Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031334							
HP:0031335	biolink:PhenotypicFeature	Abnormal cardiomyocyte mitochondrial morphology	An anomaly of the structure of mitochondria within cardiomyocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031335							
HP:0031336	biolink:PhenotypicFeature	Intranuclear cardiomyocyte mitochondria	Abnormal localization of mitochondria within the nuclei of cardiomyocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031336							
HP:0031337	biolink:PhenotypicFeature	Abnormal cardiomyocyte connexin43 staining	Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.		hp.json		http://purl.obolibrary.org/obo/HP_0031337							
HP:0031338	biolink:PhenotypicFeature	Abnormal cardiomyocyte plakoglobin staining	Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031338							
HP:0031339	biolink:PhenotypicFeature	Abnormal cadiomyocyte dystrophin staining	Anomalous staining of dystrophin in cardiomyocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031339							
HP:0031340	biolink:PhenotypicFeature	Abnormal lysosomal morphology	A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.		hp.json		http://purl.obolibrary.org/obo/HP_0031340							
HP:0031341	biolink:PhenotypicFeature	Gastric arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.		hp.json		http://purl.obolibrary.org/obo/HP_0031341							
HP:0031342	biolink:PhenotypicFeature	Duodenal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.		hp.json		http://purl.obolibrary.org/obo/HP_0031342							
HP:0031343	biolink:PhenotypicFeature	Jejunal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.		hp.json		http://purl.obolibrary.org/obo/HP_0031343							
HP:0031344	biolink:PhenotypicFeature	Pelvic arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.		hp.json		http://purl.obolibrary.org/obo/HP_0031344							
HP:0031345	biolink:PhenotypicFeature	Colonic arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.		hp.json		http://purl.obolibrary.org/obo/HP_0031345							
HP:0031346	biolink:PhenotypicFeature	Rectal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.		hp.json		http://purl.obolibrary.org/obo/HP_0031346							
HP:0031347	biolink:PhenotypicFeature	Uterine arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.		hp.json		http://purl.obolibrary.org/obo/HP_0031347							
HP:0031348	biolink:PhenotypicFeature	Dextrotransposition of the great arteries	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.	Fyler:0700|Fyler:700	hp.json	D-TGA|D-loop transposition of the great arteries	http://purl.obolibrary.org/obo/HP_0031348							
HP:0031349	biolink:PhenotypicFeature	Levotransposition of the great arteries	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.		hp.json	L-TGA	http://purl.obolibrary.org/obo/HP_0031349							
HP:0031350	biolink:PhenotypicFeature	Cardiac sarcoma	A malignant soft tissue neoplasm that arises from the heart.		hp.json		http://purl.obolibrary.org/obo/HP_0031350							
HP:0031351	biolink:PhenotypicFeature	Calcified amorphous tumor of the heart	A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.		hp.json	Calcified amorphous tumour of the heart	http://purl.obolibrary.org/obo/HP_0031351							
HP:0031352	biolink:PhenotypicFeature	Chest tightness	An unpleasant sensation of tightness or pressure in the chest.		hp.json	Tightness in chest|Tightness of chest|Chest distress	http://purl.obolibrary.org/obo/HP_0031352							
HP:0031353	biolink:PhenotypicFeature	Otitis media with effusion	Otitis media characterized by thick or sticky fluid behind the tympanic membrane.		hp.json	Fluid behind eardrum	http://purl.obolibrary.org/obo/HP_0031353							
HP:0031354	biolink:PhenotypicFeature	Sleep onset insomnia	Difficulty initiating sleep, that is, increased sleep onset latency.		hp.json	Difficulty falling asleep	http://purl.obolibrary.org/obo/HP_0031354							
HP:0031355	biolink:PhenotypicFeature	Maintenance insomnia	Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.		hp.json	Waking up several times during the night	http://purl.obolibrary.org/obo/HP_0031355							
HP:0031356	biolink:PhenotypicFeature	Terminal insomnia	A type of insomnia characterized by waking up (too) early in the morning.		hp.json	Late insomnia	http://purl.obolibrary.org/obo/HP_0031356							
HP:0031357	biolink:PhenotypicFeature	Glomeruloid hemangioma	A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.		hp.json		http://purl.obolibrary.org/obo/HP_0031357							
HP:0031358	biolink:PhenotypicFeature	Vegetative state	Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).		hp.json		http://purl.obolibrary.org/obo/HP_0031358							
HP:0031359	biolink:PhenotypicFeature	Cutaneous sclerotic plaque	A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).		hp.json		http://purl.obolibrary.org/obo/HP_0031359							
HP:0031360	biolink:PhenotypicFeature	Yellow skin plaque	A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.		hp.json		http://purl.obolibrary.org/obo/HP_0031360							
HP:0031361	biolink:PhenotypicFeature	Zebra bodies	Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.		hp.json		http://purl.obolibrary.org/obo/HP_0031361							
HP:0031362	biolink:PhenotypicFeature	Sex-limited autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females).		hp.json		http://purl.obolibrary.org/obo/HP_0031362							
HP:0031363	biolink:PhenotypicFeature	Palpable purpura	A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).		hp.json		http://purl.obolibrary.org/obo/HP_0031363							
HP:0031364	biolink:PhenotypicFeature	Ecchymosis	A purpuric lesion that is larger than 1 cm in diameter.		hp.json	Ecchymoses	http://purl.obolibrary.org/obo/HP_0031364							
HP:0031365	biolink:PhenotypicFeature	Macular purpura	Purpura that is flat (non-palpable, not raised).		hp.json	Flat purpura	http://purl.obolibrary.org/obo/HP_0031365							
HP:0031366	biolink:PhenotypicFeature	Palate neoplasm	A neoplasm that affects the hard palate, soft palate, or uvula.		hp.json		http://purl.obolibrary.org/obo/HP_0031366							
HP:0031367	biolink:PhenotypicFeature	Metaphyseal striations	Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).		hp.json	Striated metaphysis	http://purl.obolibrary.org/obo/HP_0031367							
HP:0031368	biolink:PhenotypicFeature	Intestinal perforation	A hole (perforation) in the wall of the intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0031368							
HP:0031369	biolink:PhenotypicFeature	Colon perforation	A hole (perforation) in the wall of the colon.		hp.json	Perforation of the colon	http://purl.obolibrary.org/obo/HP_0031369							
HP:0031370	biolink:PhenotypicFeature	Small intestinal perforation	A hole (perforation) in the wall of the small intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0031370							
HP:0031371	biolink:PhenotypicFeature	Rectal perforation	A hole (perforation) in the wall of the rectum.		hp.json		http://purl.obolibrary.org/obo/HP_0031371							
HP:0031372	biolink:PhenotypicFeature	Cold paresis	Increased muscle weakness upon exposure to cold temperatures.		hp.json		http://purl.obolibrary.org/obo/HP_0031372							
HP:0031373	biolink:PhenotypicFeature	Stiff tongue	Increased rigidity and reduced mobility of the tongue.		hp.json	Tongue stiffness	http://purl.obolibrary.org/obo/HP_0031373							
HP:0031374	biolink:PhenotypicFeature	Ankle weakness	Reduced strength of the muscles that lift or otherwise move the foot at the ankle.		hp.json		http://purl.obolibrary.org/obo/HP_0031374							
HP:0031375	biolink:PhenotypicFeature	Refractory	Applies to a sign or symptom that is difficult to treat or cure.		hp.json		http://purl.obolibrary.org/obo/HP_0031375							
HP:0031377	biolink:PhenotypicFeature	Abnormal cell proliferation	Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.		hp.json		http://purl.obolibrary.org/obo/HP_0031377							
HP:0031378	biolink:PhenotypicFeature	Abnormal lymphocyte proliferation	Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.		hp.json		http://purl.obolibrary.org/obo/HP_0031378							
HP:0031379	biolink:PhenotypicFeature	Abnormal T cell proliferation	Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.		hp.json		http://purl.obolibrary.org/obo/HP_0031379							
HP:0031380	biolink:PhenotypicFeature	Abnormal B cell proliferation	Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.		hp.json		http://purl.obolibrary.org/obo/HP_0031380							
HP:0031381	biolink:PhenotypicFeature	Decreased lymphocyte proliferation in response to mitogen	A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).		hp.json	Reduced lymphocyte proliferation to mitogen	http://purl.obolibrary.org/obo/HP_0031381							
HP:0031382	biolink:PhenotypicFeature	Decreased lymphocyte proliferation in response to anti-CD3	A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.		hp.json	Defective lymphocyte proliferation to anti-CD3|Defective proliferation of lymphocytes following anti-CD3 stimulation	http://purl.obolibrary.org/obo/HP_0031382							
HP:0031383	biolink:PhenotypicFeature	Abnormal lymphocyte surface marker expression	Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031383							
HP:0031384	biolink:PhenotypicFeature	Reduced T cell CD40 expression	A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031384							
HP:0031385	biolink:PhenotypicFeature	Megakaryocyte nucleus hypolobulation	The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.		hp.json		http://purl.obolibrary.org/obo/HP_0031385							
HP:0031386	biolink:PhenotypicFeature	Increased micromegakaryocyte count	The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.		hp.json		http://purl.obolibrary.org/obo/HP_0031386							
HP:0031387	biolink:PhenotypicFeature	Increased multinucleated megakaryocyte count	The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.		hp.json		http://purl.obolibrary.org/obo/HP_0031387							
HP:0031388	biolink:PhenotypicFeature	Megakaryocyte nucleus hyperlobulation	The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.		hp.json		http://purl.obolibrary.org/obo/HP_0031388							
HP:0031389	biolink:PhenotypicFeature	Abnormal MHC II surface expression	A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.		hp.json		http://purl.obolibrary.org/obo/HP_0031389							
HP:0031390	biolink:PhenotypicFeature	Reduced MHC II surface expression	A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.		hp.json		http://purl.obolibrary.org/obo/HP_0031390							
HP:0031391	biolink:PhenotypicFeature	Elevated MHC II surface expression	An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.		hp.json		http://purl.obolibrary.org/obo/HP_0031391							
HP:0031392	biolink:PhenotypicFeature	Abnormal proportion of CD4-positive T cells	Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.		hp.json	Abnormal proportion of CD4+ T cells|Abnormal proportion of CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031392							
HP:0031393	biolink:PhenotypicFeature	Abnormal proportion of CD8-positive T cells	Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.		hp.json	Abnormal proportion of CD8+ T cells|Abnormal proportion of CD8-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031393							
HP:0031394	biolink:PhenotypicFeature	Abnormal CD4:CD8 ratio	Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0031394							
HP:0031396	biolink:PhenotypicFeature	Abnormal proportion of naive T cells	Any abnormality in the proportion of naive T cells relative to the total number of T cells.		hp.json	Abnormal naive T cell proportion|Abnormal proportion of naive thymus-derived, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031396							
HP:0031397	biolink:PhenotypicFeature	Decreased proportion of naive T cells	An abnormally decreased proportion of naive T cells relative to the total number of T cells.		hp.json	Decreased proportion of naive thymus-derived, alpha-beta T cells|Reduced proportion of naive T cells	http://purl.obolibrary.org/obo/HP_0031397							
HP:0031398	biolink:PhenotypicFeature	Increased proportion of naive T cells	An abnormally increased proportion of naive T cells relative to the total number of T cells.		hp.json	Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031398							
HP:0031399	biolink:PhenotypicFeature	Abnormal proportion of double-negative alpha-beta regulatory T cell	An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.		hp.json	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							
HP:0031401	biolink:PhenotypicFeature	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031401							
HP:0031402	biolink:PhenotypicFeature	Reduced antigen-specific T cell proliferation	Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.		hp.json	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							
HP:0031403	biolink:PhenotypicFeature	Impaired pathogen-specific CD8 cytoxicity	Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.		hp.json	Pathogen-specific CD8 cytoxicity defect	http://purl.obolibrary.org/obo/HP_0031403							
HP:0031404	biolink:PhenotypicFeature	Impaired antigen-specific response	An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).		hp.json	Impaired adaptive immune response	http://purl.obolibrary.org/obo/HP_0031404							
HP:0031405	biolink:PhenotypicFeature	Poroma	A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].		hp.json		http://purl.obolibrary.org/obo/HP_0031405							
HP:0031406	biolink:PhenotypicFeature	Abnormal cytokine signaling	Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.		hp.json	Abnormal cytokine signalling	http://purl.obolibrary.org/obo/HP_0031406							
HP:0031407	biolink:PhenotypicFeature	Impaired cytokine signaling	A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.		hp.json	Cytokine signalling defect|Impaired cytokine signalling|Cytokine signaling defect	http://purl.obolibrary.org/obo/HP_0031407							
HP:0031408	biolink:PhenotypicFeature	Increased proportion of CD25+ mast cells	An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).		hp.json		http://purl.obolibrary.org/obo/HP_0031408							
HP:0031409	biolink:PhenotypicFeature	Abnormal lymphocyte physiology	Any anomaly of lymphocyte function.		hp.json		http://purl.obolibrary.org/obo/HP_0031409							
HP:0031410	biolink:PhenotypicFeature	Abnormal distribution of CD56 bright/dim natural killer cells	An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.		hp.json	Abnormal distribution of CD56 bright/dim NK cells	http://purl.obolibrary.org/obo/HP_0031410							
HP:0031411	biolink:PhenotypicFeature	Abnormal chromosome morphology	Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.	Fyler:4013	hp.json		http://purl.obolibrary.org/obo/HP_0031411							
HP:0031412	biolink:PhenotypicFeature	Abnormal telomere morphology			hp.json		http://purl.obolibrary.org/obo/HP_0031412							
HP:0031413	biolink:PhenotypicFeature	Short telomere length	An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.		hp.json		http://purl.obolibrary.org/obo/HP_0031413							
HP:0031414	biolink:PhenotypicFeature	High serum calcifediol	An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.		hp.json	High serum 25-hydroxycholecalciferol|High serum calcidiol	http://purl.obolibrary.org/obo/HP_0031414							
HP:0031415	biolink:PhenotypicFeature	High serum calcitriol	An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.	UMLS:C1833331	hp.json	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							
HP:0031416	biolink:PhenotypicFeature	Abnormal nasal mucus secretion	Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.		hp.json		http://purl.obolibrary.org/obo/HP_0031416							
HP:0031417	biolink:PhenotypicFeature	Rhinorrhea	Increased discharge of mucus from the nose.		hp.json	Nasal Discharge|Runny Nose	http://purl.obolibrary.org/obo/HP_0031417							
HP:0031418	biolink:PhenotypicFeature	Increased body mass index	Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.		hp.json	Increased BMI	http://purl.obolibrary.org/obo/HP_0031418							
HP:0031419	biolink:PhenotypicFeature	Reduced sex -hormone binding protein level	A decreased concentration of sex-hormone binding protein in the circulation.		hp.json	Reduced androgen-binding protein level	http://purl.obolibrary.org/obo/HP_0031419							
HP:0031420	biolink:PhenotypicFeature	Small yellow foveal lesion with surrounding gray zone	A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.		hp.json	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							
HP:0031421	biolink:PhenotypicFeature	Small superior frontal cortex	Reduced size of the superior frontal portion of the cerebral cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0031421							
HP:0031422	biolink:PhenotypicFeature	Abnormal cerebellar cortex morphology	Any structural anomaly of the cortex of the cerebellum.		hp.json	Abnormal morphology of the cerebellar cortex	http://purl.obolibrary.org/obo/HP_0031422							
HP:0031423	biolink:PhenotypicFeature	Small cerebellar cortex	Reduced size of the cerebellar cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0031423							
HP:0031424	biolink:PhenotypicFeature	Abnormal circulating beta-C-terminal telopeptide level	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.json	Abnormal circulating beta-CTx level|Abnormal circulating beta-CrossLaps level	http://purl.obolibrary.org/obo/HP_0031424							
HP:0031425	biolink:PhenotypicFeature	Increased circulating beta-C-terminal telopeptide level	A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.		hp.json	Increased circulating beta-CTx level|Increased circulating beta-CrossLaps level	http://purl.obolibrary.org/obo/HP_0031425							
HP:0031426	biolink:PhenotypicFeature	Decreased circulating beta-C-terminal telopeptide level	A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.		hp.json	Decreased circulating beta-CTx level|Decreased circulating beta-CrossLaps level	http://purl.obolibrary.org/obo/HP_0031426							
HP:0031427	biolink:PhenotypicFeature	Abnormal circulating osteocalcin level	A deviation from the normal concentration of osteocalcin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031427							
HP:0031428	biolink:PhenotypicFeature	Increased circulating osteocalcin level	An elevated level of osteocalcin in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031428							
HP:0031429	biolink:PhenotypicFeature	Decreased circulating osteocalcin level	A reduced level of osteocalcin in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031429							
HP:0031430	biolink:PhenotypicFeature	Oligoclonal T cell expansion	The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.		hp.json		http://purl.obolibrary.org/obo/HP_0031430							
HP:0031431	biolink:PhenotypicFeature	Persistent repetition of words	Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.		hp.json		http://purl.obolibrary.org/obo/HP_0031431							
HP:0031432	biolink:PhenotypicFeature	Persistent repetition of actions	Repeated and inappropriate mechanical repetition of actions.		hp.json		http://purl.obolibrary.org/obo/HP_0031432							
HP:0031433	biolink:PhenotypicFeature	Alexithymia	A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.		hp.json	Unaware of others' emotions	http://purl.obolibrary.org/obo/HP_0031433							
HP:0031434	biolink:PhenotypicFeature	Abnormal speech prosody	An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.		hp.json		http://purl.obolibrary.org/obo/HP_0031434							
HP:0031435	biolink:PhenotypicFeature	Monotonic speech	A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.		hp.json		http://purl.obolibrary.org/obo/HP_0031435							
HP:0031436	biolink:PhenotypicFeature	Increased pitch variability of speech	A speech pattern characterized by abnormally elevated variability of the pitch of the voice.		hp.json		http://purl.obolibrary.org/obo/HP_0031436							
HP:0031437	biolink:PhenotypicFeature	Pregnancy exposure	Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.		hp.json	Exposure during pregnancy	http://purl.obolibrary.org/obo/HP_0031437							
HP:0031438	biolink:PhenotypicFeature	Abnormal sex hormone-binding globulin level	A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031438							
HP:0031439	biolink:PhenotypicFeature	Abnormal angiostatin level	A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.		hp.json		http://purl.obolibrary.org/obo/HP_0031439							
HP:0031440	biolink:PhenotypicFeature	obsolete Abnormal tricuspid valve morphology			hp.json		http://purl.obolibrary.org/obo/HP_0031440							
HP:0031441	biolink:PhenotypicFeature	Abnormal tricuspid valve annulus morphology	Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.		hp.json		http://purl.obolibrary.org/obo/HP_0031441							
HP:0031442	biolink:PhenotypicFeature	Abnormal tricuspid chordae tendinae morphology	Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031442							
HP:0031443	biolink:PhenotypicFeature	Abnormal tricuspid valve leaflet morphology	Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031443							
HP:0031444	biolink:PhenotypicFeature	Dilatation of the tricuspid annulus	An increase in the diameter of the ring (annulus) of the tricuspid valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031444							
HP:0031445	biolink:PhenotypicFeature	Oral mucosa nodule	A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.		hp.json		http://purl.obolibrary.org/obo/HP_0031445							
HP:0031446	biolink:PhenotypicFeature	Erosion of oral mucosa	Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.		hp.json		http://purl.obolibrary.org/obo/HP_0031446							
HP:0031447	biolink:PhenotypicFeature	Penile freckling	Multiple pigmented macules located on the skin of the penis.		hp.json		http://purl.obolibrary.org/obo/HP_0031447							
HP:0031448	biolink:PhenotypicFeature	Herpetiform vesicles	Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.		hp.json		http://purl.obolibrary.org/obo/HP_0031448							
HP:0031449	biolink:PhenotypicFeature	Perineal hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.		hp.json		http://purl.obolibrary.org/obo/HP_0031449							
HP:0031450	biolink:PhenotypicFeature	Polycyclic	A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.		hp.json		http://purl.obolibrary.org/obo/HP_0031450							
HP:0031451	biolink:PhenotypicFeature	Lower extremity subcutanous fat hypertrophy	An abnormal increase in the amount of subcutaneous fat in the legs.		hp.json		http://purl.obolibrary.org/obo/HP_0031451							
HP:0031452	biolink:PhenotypicFeature	Lichenoid skin lesion	Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.		hp.json		http://purl.obolibrary.org/obo/HP_0031452							
HP:0031453	biolink:PhenotypicFeature	Oral lichenoid lesion	Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.		hp.json		http://purl.obolibrary.org/obo/HP_0031453							
HP:0031454	biolink:PhenotypicFeature	Apocrine hidrocystoma	A cystic lesions that forms a benign tumor of an apocrine sweat gland.		hp.json		http://purl.obolibrary.org/obo/HP_0031454							
HP:0031455	biolink:PhenotypicFeature	Presacral ganglioneuroma	A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.		hp.json		http://purl.obolibrary.org/obo/HP_0031455							
HP:0031456	biolink:PhenotypicFeature	Ectopic pregnancy	A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).		hp.json		http://purl.obolibrary.org/obo/HP_0031456							
HP:0031457	biolink:PhenotypicFeature	Pulmonary opacity	Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.		hp.json		http://purl.obolibrary.org/obo/HP_0031457							
HP:0031458	biolink:PhenotypicFeature	Adenoiditis	An inflammation of the adenoid tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0031458							
HP:0031459	biolink:PhenotypicFeature	Soft tissue neoplasm	A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.		hp.json		http://purl.obolibrary.org/obo/HP_0031459							
HP:0031460	biolink:PhenotypicFeature	Benign muscle neoplasm	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].		hp.json		http://purl.obolibrary.org/obo/HP_0031460							
HP:0031461	biolink:PhenotypicFeature	Intramuscular Myxoma	A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.		hp.json	IM Myxoma	http://purl.obolibrary.org/obo/HP_0031461							
HP:0031462	biolink:PhenotypicFeature	Musculotendinous retraction	Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0031462							
HP:0031463	biolink:PhenotypicFeature	Esophageal squamous papilloma	A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.		hp.json		http://purl.obolibrary.org/obo/HP_0031463							
HP:0031464	biolink:PhenotypicFeature	Genital blistering	The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.		hp.json		http://purl.obolibrary.org/obo/HP_0031464							
HP:0031465	biolink:PhenotypicFeature	Abnormal vasa vasorum morphology	A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.		hp.json		http://purl.obolibrary.org/obo/HP_0031465							
HP:0031466	biolink:PhenotypicFeature	Impairment in personality functioning	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.		hp.json		http://purl.obolibrary.org/obo/HP_0031466							
HP:0031467	biolink:PhenotypicFeature	Negative affectivity	A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.		hp.json		http://purl.obolibrary.org/obo/HP_0031467							
HP:0031468	biolink:PhenotypicFeature	Separation insecurity	Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.		hp.json		http://purl.obolibrary.org/obo/HP_0031468							
HP:0031469	biolink:PhenotypicFeature	Low self esteem	Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.		hp.json		http://purl.obolibrary.org/obo/HP_0031469							
HP:0031472	biolink:PhenotypicFeature	Risk taking	Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger.		hp.json		http://purl.obolibrary.org/obo/HP_0031472							
HP:0031473	biolink:PhenotypicFeature	Hostility	Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.		hp.json		http://purl.obolibrary.org/obo/HP_0031473							
HP:0031474	biolink:PhenotypicFeature	Pulmonary chondroma	A benign cartilaginous tumors of the lung.		hp.json		http://purl.obolibrary.org/obo/HP_0031474							
HP:0031475	biolink:PhenotypicFeature	Status epilepticus without prominent motor symptoms	There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.		hp.json	Nonconvulsive status epilepticus	http://purl.obolibrary.org/obo/HP_0031475							
HP:0031476	biolink:PhenotypicFeature	Abnormal buccal mucosa cell morphology	Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).		hp.json		http://purl.obolibrary.org/obo/HP_0031476							
HP:0031477	biolink:PhenotypicFeature	obsolete Abnormal mitral valve morphology			hp.json		http://purl.obolibrary.org/obo/HP_0031477							
HP:0031478	biolink:PhenotypicFeature	Abnormal mitral valve annulus morphology	Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.		hp.json		http://purl.obolibrary.org/obo/HP_0031478							
HP:0031479	biolink:PhenotypicFeature	Dilatation of the mitral annulus	An increase in the diameter of the ring (annulus) of the mitral valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031479							
HP:0031480	biolink:PhenotypicFeature	Abnormal mitral valve leaflet morphology	Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031480							
HP:0031481	biolink:PhenotypicFeature	Abnormal mitral valve physiology	Any functional anomaly of the mitral valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031481							
HP:0031482	biolink:PhenotypicFeature	Abnormal regional left ventricular contraction	A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0031482							
HP:0031483	biolink:PhenotypicFeature	Reduced contraction of the left ventricular apex	Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.		hp.json		http://purl.obolibrary.org/obo/HP_0031483							
HP:0031484	biolink:PhenotypicFeature	Cold-induced hemolysis	A form of hemolytic anemia that can be triggered by cold temperatures.		hp.json		http://purl.obolibrary.org/obo/HP_0031484							
HP:0031485	biolink:PhenotypicFeature	Subperiosteal bone formation	The formation of new bone along the cortex and underneath the periosteum of a bone.		hp.json	Periosteal reaction	http://purl.obolibrary.org/obo/HP_0031485							
HP:0031486	biolink:PhenotypicFeature	Vascular malformation of the lip	An anomaly of blood vessels located in the lip.		hp.json		http://purl.obolibrary.org/obo/HP_0031486							
HP:0031487	biolink:PhenotypicFeature	Capillary malformation of the lip	A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.		hp.json		http://purl.obolibrary.org/obo/HP_0031487							
HP:0031488	biolink:PhenotypicFeature	Arteriovenous malformation of the lip	A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.		hp.json	Atypical connection between arteries and veins	http://purl.obolibrary.org/obo/HP_0031488							
HP:0031489	biolink:PhenotypicFeature	Venous malformation of the lip	A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.		hp.json		http://purl.obolibrary.org/obo/HP_0031489							
HP:0031490	biolink:PhenotypicFeature	Hemangioma of the lip	A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.		hp.json		http://purl.obolibrary.org/obo/HP_0031490							
HP:0031491	biolink:PhenotypicFeature	Continuous spike and waves during slow sleep	Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.		hp.json	CSWS	http://purl.obolibrary.org/obo/HP_0031491							
HP:0031492	biolink:PhenotypicFeature	Epithelial neoplasm	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].		hp.json		http://purl.obolibrary.org/obo/HP_0031492							
HP:0031493	biolink:PhenotypicFeature	Glandular cell neoplasm	A tumor that arises from a gland cell.		hp.json		http://purl.obolibrary.org/obo/HP_0031493							
HP:0031494	biolink:PhenotypicFeature	Ovarian mucinous tumor	Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.		hp.json	Ovarian mucinous tumour|Mucinous neoplasm of the ovary	http://purl.obolibrary.org/obo/HP_0031494							
HP:0031495	biolink:PhenotypicFeature	Mucinous neoplasm			hp.json		http://purl.obolibrary.org/obo/HP_0031495							
HP:0031496	biolink:PhenotypicFeature	Mucinous cystic neoplasm of the pancreas	Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.		hp.json		http://purl.obolibrary.org/obo/HP_0031496							
HP:0031497	biolink:PhenotypicFeature	Mucinous colorectal carcinoma	A subtype of colorectal carcinoma with mucin lakes.		hp.json		http://purl.obolibrary.org/obo/HP_0031497							
HP:0031498	biolink:PhenotypicFeature	Mucinous gastric carcinoma	A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.		hp.json		http://purl.obolibrary.org/obo/HP_0031498							
HP:0031499	biolink:PhenotypicFeature	Appendiceal mucinous neoplasm	An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.		hp.json		http://purl.obolibrary.org/obo/HP_0031499							
HP:0031500	biolink:PhenotypicFeature	Abdominal mass	An abnormal enlargement or swelling in the abdomen.		hp.json		http://purl.obolibrary.org/obo/HP_0031500							
HP:0031501	biolink:PhenotypicFeature	Pelvic mass	An abnormal enlargement or swelling in the pelvic region.		hp.json		http://purl.obolibrary.org/obo/HP_0031501							
HP:0031502	biolink:PhenotypicFeature	Trophoblastic tumor	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].		hp.json	Trophoblastic tumour	http://purl.obolibrary.org/obo/HP_0031502							
HP:0031503	biolink:PhenotypicFeature	Night gasping	Waking up at night gasping for breath.		hp.json		http://purl.obolibrary.org/obo/HP_0031503							
HP:0031504	biolink:PhenotypicFeature	Foamy urine	Urine has an increased amount of frothy fine bubbles.		hp.json	Frothy urine	http://purl.obolibrary.org/obo/HP_0031504							
HP:0031505	biolink:PhenotypicFeature	Abnormal circulating T4 level	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.json	Abnormal circulating thyroxine level	http://purl.obolibrary.org/obo/HP_0031505							
HP:0031506	biolink:PhenotypicFeature	Increased circulating T4 level	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.json	Increased circulating thyroxine level	http://purl.obolibrary.org/obo/HP_0031506							
HP:0031507	biolink:PhenotypicFeature	Decreased circulating T4 level	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.json	Reduced T4 plasma level|Decreased circulating thyroxine level	http://purl.obolibrary.org/obo/HP_0031507							
HP:0031508	biolink:PhenotypicFeature	Abnormal thyroid hormone level	Any deviation from the normal range of the hormones produced by the thyroid gland.		hp.json		http://purl.obolibrary.org/obo/HP_0031508							
HP:0031509	biolink:PhenotypicFeature	Dry nipple	Abnormally dry skin in the area of the nipple of the breast.		hp.json		http://purl.obolibrary.org/obo/HP_0031509							
HP:0031510	biolink:PhenotypicFeature	Linear earlobe crease	A transverse linear fissure (crease) in the lobule of the ear.		hp.json		http://purl.obolibrary.org/obo/HP_0031510							
HP:0031511	biolink:PhenotypicFeature	Diagonal earlobe crease	Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.		hp.json		http://purl.obolibrary.org/obo/HP_0031511							
HP:0031512	biolink:PhenotypicFeature	Abnormal cutaneous collagen fibril morphology			hp.json		http://purl.obolibrary.org/obo/HP_0031512							
HP:0031513	biolink:PhenotypicFeature	Luse bodies	Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.		hp.json		http://purl.obolibrary.org/obo/HP_0031513							
HP:0031514	biolink:PhenotypicFeature	Increased proportion of exhausted T cells	An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031514							
HP:0031515	biolink:PhenotypicFeature	Abnormal meiosis	Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031515							
HP:0031516	biolink:PhenotypicFeature	Oocyte arrest at metaphase I	Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.		hp.json	Metaphase I oocyte meiotic arrest|Oocyte meiotic arrest at metaphase I	http://purl.obolibrary.org/obo/HP_0031516							
HP:0031517	biolink:PhenotypicFeature	Verruciform xanthoma	A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.		hp.json		http://purl.obolibrary.org/obo/HP_0031517							
HP:0031518	biolink:PhenotypicFeature	Absent posterior alpha rhythm	Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.		hp.json		http://purl.obolibrary.org/obo/HP_0031518							
HP:0031519	biolink:PhenotypicFeature	Cauliflower deformity of dermal collagen fibrils	An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0031519							
HP:0031520	biolink:PhenotypicFeature	Groin pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.		hp.json		http://purl.obolibrary.org/obo/HP_0031520							
HP:0031521	biolink:PhenotypicFeature	Vaginal clear cell adenocarcinoma	A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.		hp.json	Clear cell adenocarcinoma of the vagina	http://purl.obolibrary.org/obo/HP_0031521							
HP:0031522	biolink:PhenotypicFeature	Cervical clear cell adenocarcinoma	A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.		hp.json	Clear cell carcinoma of cervix	http://purl.obolibrary.org/obo/HP_0031522							
HP:0031523	biolink:PhenotypicFeature	Salivary gland oncocytoma	A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)		hp.json	Parotid oncocytoma	http://purl.obolibrary.org/obo/HP_0031523							
HP:0031524	biolink:PhenotypicFeature	Ampulla of Vater carcinoma	A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.		hp.json		http://purl.obolibrary.org/obo/HP_0031524							
HP:0031525	biolink:PhenotypicFeature	Keratoacanthoma	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.json		http://purl.obolibrary.org/obo/HP_0031525							
HP:0031526	biolink:PhenotypicFeature	Subretinal fluid	Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.		hp.json	Sub-retinal fluid	http://purl.obolibrary.org/obo/HP_0031526							
HP:0031527	biolink:PhenotypicFeature	Intraretinal fluid	Edema/fluid accumulating within the retinal layers.		hp.json	Intra-retinal fluid	http://purl.obolibrary.org/obo/HP_0031527							
HP:0031528	biolink:PhenotypicFeature	Subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium.		hp.json		http://purl.obolibrary.org/obo/HP_0031528							
HP:0031529	biolink:PhenotypicFeature	Focal subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.		hp.json		http://purl.obolibrary.org/obo/HP_0031529							
HP:0031530	biolink:PhenotypicFeature	Multifocal subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.		hp.json		http://purl.obolibrary.org/obo/HP_0031530							
HP:0031531	biolink:PhenotypicFeature	Sub-RPE deposits	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0031531							
HP:0031532	biolink:PhenotypicFeature	Focal sub-RPE deposits	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.		hp.json		http://purl.obolibrary.org/obo/HP_0031532							
HP:0031533	biolink:PhenotypicFeature	Multifocal sub-RPE deposits	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.		hp.json		http://purl.obolibrary.org/obo/HP_0031533							
HP:0031534	biolink:PhenotypicFeature	Passive dorsiflexion of the 5th finger more than 90 degrees	An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.		hp.json		http://purl.obolibrary.org/obo/HP_0031534							
HP:0031535	biolink:PhenotypicFeature	Increased theta frequency activity in EEG	Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.		hp.json		http://purl.obolibrary.org/obo/HP_0031535							
HP:0031536	biolink:PhenotypicFeature	Separate origin of the left anterior descending and left circumflex artery	Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).		hp.json		http://purl.obolibrary.org/obo/HP_0031536							
HP:0031537	biolink:PhenotypicFeature	Anomalous origin of the left circumflex artery from the right coronary artery	An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).		hp.json		http://purl.obolibrary.org/obo/HP_0031537							
HP:0031538	biolink:PhenotypicFeature	Abnormal dermoepidermal junction morphology	Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.		hp.json		http://purl.obolibrary.org/obo/HP_0031538							
HP:0031539	biolink:PhenotypicFeature	Linear IgA deposits along the epidermal basement membrane zone	Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0031539							
HP:0031540	biolink:PhenotypicFeature	Linear IgG deposits along the epidermal basement membrane zone	Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0031540							
HP:0031541	biolink:PhenotypicFeature	Linear C3 deposits along the epidermal basement membrane zone	Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0031541							
HP:0031542	biolink:PhenotypicFeature	Myelin-like whorls in vacuolated fibers	Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.		hp.json	Myelin-like whorls in vacuolated fibres	http://purl.obolibrary.org/obo/HP_0031542							
HP:0031544	biolink:PhenotypicFeature	Elevated circulating palmitoleylcarnitine concentration	An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.		hp.json	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							
HP:0031545	biolink:PhenotypicFeature	Abnormally low T cell receptor excision circle level	Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.		hp.json		http://purl.obolibrary.org/obo/HP_0031545							
HP:0031546	biolink:PhenotypicFeature	Cardiac conduction abnormality	Any anomaly of the progression of electrical impulses through the heart.		hp.json	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							
HP:0031547	biolink:PhenotypicFeature	Abnormal QT interval	Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).		hp.json		http://purl.obolibrary.org/obo/HP_0031547							
HP:0031548	biolink:PhenotypicFeature	Follicular infundibulum tumor	A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.		hp.json	Follicular infundibulum tumour|Basal cell hamartoma with follicular differentiation	http://purl.obolibrary.org/obo/HP_0031548							
HP:0031549	biolink:PhenotypicFeature	Lymphocytoma cutis	Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.		hp.json	Skin pseudolymphoma|Spiegler-Fendt sarcoid	http://purl.obolibrary.org/obo/HP_0031549							
HP:0031550	biolink:PhenotypicFeature	Abnormal flow cytometry test result	Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.		hp.json		http://purl.obolibrary.org/obo/HP_0031550							
HP:0031551	biolink:PhenotypicFeature	Reduced cell surface marker level	Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031551							
HP:0031552	biolink:PhenotypicFeature	Reduced fibroblast surface marker level	Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031552							
HP:0031553	biolink:PhenotypicFeature	Reduced granulocyte surface marker level	Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031553							
HP:0031554	biolink:PhenotypicFeature	Reduced granulocyte CD55 level	Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031554							
HP:0031555	biolink:PhenotypicFeature	Reduced granulocyte CD59 level	Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031555							
HP:0031556	biolink:PhenotypicFeature	Reduced granulocyte CD16 level	Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031556							
HP:0031557	biolink:PhenotypicFeature	Reduced fibroblast CD55 level	Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031557							
HP:0031558	biolink:PhenotypicFeature	Reduced fibroblast CD59 level	Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031558							
HP:0031559	biolink:PhenotypicFeature	Reduced fibroblast CD16 level	Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0031559							
HP:0031560	biolink:PhenotypicFeature	Coronary cameral fistula	An abnormal communication between coronary artery and a cardiac chamber.	Fyler:2233	hp.json		http://purl.obolibrary.org/obo/HP_0031560							
HP:0031561	biolink:PhenotypicFeature	Coronary cameral fistula to right ventricle	An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0031561							
HP:0031562	biolink:PhenotypicFeature	Balanced double aortic arch	A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.	Fyler:2780	hp.json		http://purl.obolibrary.org/obo/HP_0031562							
HP:0031563	biolink:PhenotypicFeature	Coronary arteriovenous fistula	An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.	Fyler:2240	hp.json		http://purl.obolibrary.org/obo/HP_0031563							
HP:0031564	biolink:PhenotypicFeature	Bronchial isomerism	An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).		hp.json		http://purl.obolibrary.org/obo/HP_0031564							
HP:0031565	biolink:PhenotypicFeature	Abdominal situs ambiguus	An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.	Fyler:3817	hp.json		http://purl.obolibrary.org/obo/HP_0031565							
HP:0031566	biolink:PhenotypicFeature	Abnormal pulmonary valve cusp morphology	Any structural anomaly of the pulmonary valve leaflets.	Fyler:1652	hp.json		http://purl.obolibrary.org/obo/HP_0031566							
HP:0031567	biolink:PhenotypicFeature	Abnormal aortic valve cusp morphology	Any structural anomaly of the aortic valve leaflets.	Fyler:1480	hp.json		http://purl.obolibrary.org/obo/HP_0031567							
HP:0031568	biolink:PhenotypicFeature	Thickened aortic valve cusp	An abnormally increased thickness of a leaflet of the aortic valve.	Fyler:1486	hp.json		http://purl.obolibrary.org/obo/HP_0031568							
HP:0031569	biolink:PhenotypicFeature	Absent aortic valve cusps	A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.	Fyler:1484	hp.json	Absent aortic valve	http://purl.obolibrary.org/obo/HP_0031569							
HP:0031570	biolink:PhenotypicFeature	Tessier number 0 facial cleft	A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.		hp.json	Tessier facial cleft number 0	http://purl.obolibrary.org/obo/HP_0031570							
HP:0031571	biolink:PhenotypicFeature	Paramedian facial cleft	A type of facial cleft located near to but not directly on the midline of the face.		hp.json		http://purl.obolibrary.org/obo/HP_0031571							
HP:0031572	biolink:PhenotypicFeature	Tessier number 1 facial cleft	As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.		hp.json		http://purl.obolibrary.org/obo/HP_0031572							
HP:0031573	biolink:PhenotypicFeature	Tessier number 2 facial cleft	As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.		hp.json		http://purl.obolibrary.org/obo/HP_0031573							
HP:0031574	biolink:PhenotypicFeature	Orbital cleft	A facial cleft characterized by involvement of the orbit.		hp.json		http://purl.obolibrary.org/obo/HP_0031574							
HP:0031575	biolink:PhenotypicFeature	Tessier number 3 facial cleft	As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.		hp.json		http://purl.obolibrary.org/obo/HP_0031575							
HP:0031576	biolink:PhenotypicFeature	Tessier number 4 facial cleft	The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.		hp.json		http://purl.obolibrary.org/obo/HP_0031576							
HP:0031577	biolink:PhenotypicFeature	Tessier number 5 facial cleft	The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.		hp.json		http://purl.obolibrary.org/obo/HP_0031577							
HP:0031578	biolink:PhenotypicFeature	Tessier number 6 facial cleft	A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.		hp.json	Tessier facial cleft number 6	http://purl.obolibrary.org/obo/HP_0031578							
HP:0031579	biolink:PhenotypicFeature	Tessier number 7 facial cleft	The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.		hp.json	Tessier cleft number 7|Tessier facial cleft number 7	http://purl.obolibrary.org/obo/HP_0031579							
HP:0031580	biolink:PhenotypicFeature	Tessier number 8 facial cleft	The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.		hp.json	Tessier facial cleft number 8	http://purl.obolibrary.org/obo/HP_0031580							
HP:0031581	biolink:PhenotypicFeature	Tessier number 9 facial cleft	This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.		hp.json		http://purl.obolibrary.org/obo/HP_0031581							
HP:0031582	biolink:PhenotypicFeature	Tessier number 10 facial cleft	In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.		hp.json		http://purl.obolibrary.org/obo/HP_0031582							
HP:0031583	biolink:PhenotypicFeature	Tessier number 11 facial cleft	An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.		hp.json		http://purl.obolibrary.org/obo/HP_0031583							
HP:0031584	biolink:PhenotypicFeature	Tessier number 12 facial cleft	There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.		hp.json		http://purl.obolibrary.org/obo/HP_0031584							
HP:0031585	biolink:PhenotypicFeature	Tessier number 13 facial cleft	There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.		hp.json		http://purl.obolibrary.org/obo/HP_0031585							
HP:0031586	biolink:PhenotypicFeature	Tessier number 14 facial cleft	This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.		hp.json	Tessier facial cleft number 14	http://purl.obolibrary.org/obo/HP_0031586							
HP:0031587	biolink:PhenotypicFeature	Tessier number 30 facial cleft	A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.		hp.json		http://purl.obolibrary.org/obo/HP_0031587							
HP:0031588	biolink:PhenotypicFeature	Unhappy demeanor	A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.		hp.json	Unhappy demeanour	http://purl.obolibrary.org/obo/HP_0031588							
HP:0031589	biolink:PhenotypicFeature	Suicidal ideation	Frequent thinking about or preoccupation with killing oneself.		hp.json	Suicidality	http://purl.obolibrary.org/obo/HP_0031589							
HP:0031590	biolink:PhenotypicFeature	Asthenopia	Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.		hp.json	Eye strain	http://purl.obolibrary.org/obo/HP_0031590							
HP:0031591	biolink:PhenotypicFeature	Enlarged Eustachian valve	An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.		hp.json	Enlarged inferior vena cava valve|Giant Eustachian valve	http://purl.obolibrary.org/obo/HP_0031591							
HP:0031592	biolink:PhenotypicFeature	Situs inversus with levocardia	Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.		hp.json		http://purl.obolibrary.org/obo/HP_0031592							
HP:0031593	biolink:PhenotypicFeature	Abnormal PR interval	An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.		hp.json		http://purl.obolibrary.org/obo/HP_0031593							
HP:0031594	biolink:PhenotypicFeature	PR segment depression	A reduction in voltage of the PR segment below baseline.		hp.json	PR interval depression|PTa depression	http://purl.obolibrary.org/obo/HP_0031594							
HP:0031595	biolink:PhenotypicFeature	Abnormal P wave	Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.		hp.json		http://purl.obolibrary.org/obo/HP_0031595							
HP:0031596	biolink:PhenotypicFeature	Abnormal PR segment	An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.		hp.json		http://purl.obolibrary.org/obo/HP_0031596							
HP:0031597	biolink:PhenotypicFeature	PR segment elevation	An increase in voltage of the PR segment above baseline.		hp.json	PR interval elevation|PTa elevation	http://purl.obolibrary.org/obo/HP_0031597							
HP:0031598	biolink:PhenotypicFeature	Notched P wave	V-shaped cut (notch) in the middle of the P wave.		hp.json		http://purl.obolibrary.org/obo/HP_0031598							
HP:0031599	biolink:PhenotypicFeature	P mitrale	A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.		hp.json		http://purl.obolibrary.org/obo/HP_0031599							
HP:0031600	biolink:PhenotypicFeature	P wave inversion	P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.		hp.json		http://purl.obolibrary.org/obo/HP_0031600							
HP:0031601	biolink:PhenotypicFeature	P pulmonale	The presence of tall, peaked P waves in EKG lead II.		hp.json		http://purl.obolibrary.org/obo/HP_0031601							
HP:0031602	biolink:PhenotypicFeature	Abnormal mucociliary clearance	An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary  beating.		hp.json	Abnormal mucociliary transport	http://purl.obolibrary.org/obo/HP_0031602							
HP:0031603	biolink:PhenotypicFeature	Impaired nasal mucociliary clearance	An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.		hp.json	Abnormal saccharine test	http://purl.obolibrary.org/obo/HP_0031603							
HP:0031604	biolink:PhenotypicFeature	Agenesis of the carotid canal	A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.		hp.json	Bony carotid canal agenesis	http://purl.obolibrary.org/obo/HP_0031604							
HP:0031605	biolink:PhenotypicFeature	Abnormality of fundus pigmentation	Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0031605							
HP:0031606	biolink:PhenotypicFeature	Retinal cotton wool spot	Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.		hp.json		http://purl.obolibrary.org/obo/HP_0031606							
HP:0031607	biolink:PhenotypicFeature	Pelvic organ prolapse	Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.		hp.json		http://purl.obolibrary.org/obo/HP_0031607							
HP:0031609	biolink:PhenotypicFeature	Geographic atrophy	Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.		hp.json		http://purl.obolibrary.org/obo/HP_0031609							
HP:0031610	biolink:PhenotypicFeature	Recurrent shoulder dislocation	Shoulder dislocation occurring repeated times.		hp.json	Multiple shoulder dislocation	http://purl.obolibrary.org/obo/HP_0031610							
HP:0031611	biolink:PhenotypicFeature	Sub-inner limiting membrane hemorrhage	A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.		hp.json	Sub-ILM hemorrhage|Sub-ILM haemorrhage|Sub-inner limiting membrane haemorrhage	http://purl.obolibrary.org/obo/HP_0031611							
HP:0031613	biolink:PhenotypicFeature	Inferior chorioretinal coloboma	Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.		hp.json		http://purl.obolibrary.org/obo/HP_0031613							
HP:0031614	biolink:PhenotypicFeature	Inferior retinal coloboma	A notch or cleft of the lower part of the retina.		hp.json		http://purl.obolibrary.org/obo/HP_0031614							
HP:0031615	biolink:PhenotypicFeature	Hypopyon	Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.		hp.json		http://purl.obolibrary.org/obo/HP_0031615							
HP:0031616	biolink:PhenotypicFeature	Anterior chamber flare	An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.		hp.json		http://purl.obolibrary.org/obo/HP_0031616							
HP:0031618	biolink:PhenotypicFeature	Anterior chamber flare grade 1+	Faint anterior chamber flare.		hp.json		http://purl.obolibrary.org/obo/HP_0031618							
HP:0031619	biolink:PhenotypicFeature	Anterior chamber flare grade 2+	Moderate anterior chamber flare (iris and lens details clear).		hp.json		http://purl.obolibrary.org/obo/HP_0031619							
HP:0031620	biolink:PhenotypicFeature	Anterior chamber flare grade 3+	Marked anterior chamber flare (iris and lens details hazy).		hp.json		http://purl.obolibrary.org/obo/HP_0031620							
HP:0031621	biolink:PhenotypicFeature	Anterior chamber flare grade 4+	Intense anterior chamber flare (fibrin/plastic aqueous).		hp.json		http://purl.obolibrary.org/obo/HP_0031621							
HP:0031622	biolink:PhenotypicFeature	Brown anomaly	An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.		hp.json	Brown syndrome	http://purl.obolibrary.org/obo/HP_0031622							
HP:0031623	biolink:PhenotypicFeature	Brow ptosis	Drooping of the upper eyebrow below the superior orbital rim.		hp.json	Drooping brow	http://purl.obolibrary.org/obo/HP_0031623							
HP:0031624	biolink:PhenotypicFeature	Moderate myopia	A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.		hp.json		http://purl.obolibrary.org/obo/HP_0031624							
HP:0031625	biolink:PhenotypicFeature	Pseudoaneurysm	A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.		hp.json		http://purl.obolibrary.org/obo/HP_0031625							
HP:0031626	biolink:PhenotypicFeature	Coronary ostial atresia	Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.		hp.json	Atresia of coronary ostium	http://purl.obolibrary.org/obo/HP_0031626							
HP:0031627	biolink:PhenotypicFeature	Globus pallidus calcification	Pathological deposition of calcium salts in the globus pallidus.		hp.json		http://purl.obolibrary.org/obo/HP_0031627							
HP:0031628	biolink:PhenotypicFeature	Aborted sudden cardiac death	Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.		hp.json	Sudden cardiac arrest	http://purl.obolibrary.org/obo/HP_0031628							
HP:0031629	biolink:PhenotypicFeature	Impaired tandem gait	Reduced ability to walk in a straight line while placing the feet heel to toe.		hp.json	Clumsy tandem walking	http://purl.obolibrary.org/obo/HP_0031629							
HP:0031630	biolink:PhenotypicFeature	Abnormal subpleural morphology	Any structural anomaly located between the pleura and the chest wall.		hp.json		http://purl.obolibrary.org/obo/HP_0031630							
HP:0031631	biolink:PhenotypicFeature	Subpleural honeycombing	So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.		hp.json		http://purl.obolibrary.org/obo/HP_0031631							
HP:0031632	biolink:PhenotypicFeature	Anomalous origin of the right subclavian artery from the descending aorta	Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031632							
HP:0031633	biolink:PhenotypicFeature	Isolation of the left subclavian artery	The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.	Fyler:2732	hp.json		http://purl.obolibrary.org/obo/HP_0031633							
HP:0031634	biolink:PhenotypicFeature	Anomalous origin of the left common carotid artery from the main pulmonary artery	The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031634							
HP:0031635	biolink:PhenotypicFeature	Anomalous origin of the left common carotid artery from the brachiocephalic artery	The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.		hp.json	Anomalous origin of the left common carotid artery from the brachiocephalic trunk	http://purl.obolibrary.org/obo/HP_0031635							
HP:0031636	biolink:PhenotypicFeature	Anomalous origin of the right common carotid artery from the aorta	The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.		hp.json		http://purl.obolibrary.org/obo/HP_0031636							
HP:0031637	biolink:PhenotypicFeature	Right coronary artery ostial atresia	Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.		hp.json		http://purl.obolibrary.org/obo/HP_0031637							
HP:0031638	biolink:PhenotypicFeature	Anomalous origin of the left anterior descending artery from the pulmonary artery	The left anterior descending artery (LAD) branches off from the pulmonary artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031638							
HP:0031639	biolink:PhenotypicFeature	Absent left main coronary artery	The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.		hp.json	Absent LMCA	http://purl.obolibrary.org/obo/HP_0031639							
HP:0031640	biolink:PhenotypicFeature	Abnormal radial artery morphology	Any structural anomaly of the radial artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031640							
HP:0031643	biolink:PhenotypicFeature	Fusiform ascending tubular aorta aneurysm	An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.		hp.json		http://purl.obolibrary.org/obo/HP_0031643							
HP:0031644	biolink:PhenotypicFeature	Fusiform abdominal aortic aneurysm	A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall		hp.json		http://purl.obolibrary.org/obo/HP_0031644							
HP:0031645	biolink:PhenotypicFeature	Saccular abdominal aortic aneurysm	An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.		hp.json		http://purl.obolibrary.org/obo/HP_0031645							
HP:0031646	biolink:PhenotypicFeature	Fusiform aortic arch aneurysm	A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.		hp.json		http://purl.obolibrary.org/obo/HP_0031646							
HP:0031647	biolink:PhenotypicFeature	Saccular aortic arch aneurysm	An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.		hp.json		http://purl.obolibrary.org/obo/HP_0031647							
HP:0031648	biolink:PhenotypicFeature	Penetrating aortic ulcer	A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.		hp.json		http://purl.obolibrary.org/obo/HP_0031648							
HP:0031649	biolink:PhenotypicFeature	Aortic rupture	Tearing of the aortic wall generally associated with profuse internal bleeding.		hp.json		http://purl.obolibrary.org/obo/HP_0031649							
HP:0031650	biolink:PhenotypicFeature	Abnormal atrioventricular valve physiology	Any functional defect of the mitral or tricuspid valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031650							
HP:0031651	biolink:PhenotypicFeature	Abnormal tricuspid valve physiology	Any functional defect of the tricuspid valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031651							
HP:0031652	biolink:PhenotypicFeature	Abnormal aortic valve physiology			hp.json		http://purl.obolibrary.org/obo/HP_0031652							
HP:0031653	biolink:PhenotypicFeature	Abnormal heart valve physiology	Any functional abnormality of a cardiac valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031653							
HP:0031654	biolink:PhenotypicFeature	Abnormal pulmonary valve physiology	Any functional anomaly of the pumonary valve.		hp.json		http://purl.obolibrary.org/obo/HP_0031654							
HP:0031655	biolink:PhenotypicFeature	Quadricuspid aortic valve	The presence of an aortic valve with four instead of the normal three cusps (flaps).		hp.json		http://purl.obolibrary.org/obo/HP_0031655							
HP:0031656	biolink:PhenotypicFeature	Systolic anterior motion of the mitral valve	Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.		hp.json		http://purl.obolibrary.org/obo/HP_0031656							
HP:0031657	biolink:PhenotypicFeature	Abnormal heart sound	Any abnormal noise generated by the beating heart.		hp.json		http://purl.obolibrary.org/obo/HP_0031657							
HP:0031658	biolink:PhenotypicFeature	Third heart sound	The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.		hp.json	S3|Ventricular gallop	http://purl.obolibrary.org/obo/HP_0031658							
HP:0031659	biolink:PhenotypicFeature	Fourth heart sound	The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.		hp.json	S4|Atrial gallop|Presystolic gallop	http://purl.obolibrary.org/obo/HP_0031659							
HP:0031660	biolink:PhenotypicFeature	Loud first heart sound	Abnormally increased volume of the first heart sound.		hp.json		http://purl.obolibrary.org/obo/HP_0031660							
HP:0031661	biolink:PhenotypicFeature	Abnormal second heart sound	Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.		hp.json		http://purl.obolibrary.org/obo/HP_0031661							
HP:0031662	biolink:PhenotypicFeature	Fixed splitting of the second heart sound	Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.		hp.json	Fixed splitting of S2	http://purl.obolibrary.org/obo/HP_0031662							
HP:0031663	biolink:PhenotypicFeature	Paradoxical splitting of the second heart sound	Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).		hp.json	Paradoxical splitting of S2|Reversed splitting of S2|Reversed splitting of the second heart sound	http://purl.obolibrary.org/obo/HP_0031663							
HP:0031664	biolink:PhenotypicFeature	Systolic heart murmur	A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.		hp.json		http://purl.obolibrary.org/obo/HP_0031664							
HP:0031665	biolink:PhenotypicFeature	Midsystolic murmur	A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.		hp.json		http://purl.obolibrary.org/obo/HP_0031665							
HP:0031666	biolink:PhenotypicFeature	Late systolic murmur	A murmur that occurs in the latter phase of systole.		hp.json		http://purl.obolibrary.org/obo/HP_0031666							
HP:0031667	biolink:PhenotypicFeature	Holosystolic murmur	A heart murmur that occurs during the entire systolic phase from S1 to S2.		hp.json		http://purl.obolibrary.org/obo/HP_0031667							
HP:0031668	biolink:PhenotypicFeature	Diastolic heart murmur	A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.		hp.json		http://purl.obolibrary.org/obo/HP_0031668							
HP:0031669	biolink:PhenotypicFeature	Middiastolic murmur	A murmur that occurs in the middle of the diastolic phase.		hp.json		http://purl.obolibrary.org/obo/HP_0031669							
HP:0031670	biolink:PhenotypicFeature	Continuous heart murmur	A murmur that occurs in both systole and diastole.		hp.json		http://purl.obolibrary.org/obo/HP_0031670							
HP:0031671	biolink:PhenotypicFeature	Typical atrial flutter	Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.		hp.json		http://purl.obolibrary.org/obo/HP_0031671							
HP:0031672	biolink:PhenotypicFeature	Reverse typical atrial flutter	A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.		hp.json		http://purl.obolibrary.org/obo/HP_0031672							
HP:0031673	biolink:PhenotypicFeature	Orthodromic atrioventricular reentrant tachycardia	A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.		hp.json	Orthodromic AVRT	http://purl.obolibrary.org/obo/HP_0031673							
HP:0031674	biolink:PhenotypicFeature	Antidromic atrioventricular reentrant tachycardia	A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.		hp.json	Antidromic AVRT	http://purl.obolibrary.org/obo/HP_0031674							
HP:0031675	biolink:PhenotypicFeature	Fascicular left ventricular tachycardia	A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).		hp.json		http://purl.obolibrary.org/obo/HP_0031675							
HP:0031676	biolink:PhenotypicFeature	Monomorphic ventricular tachycardia	A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).		hp.json		http://purl.obolibrary.org/obo/HP_0031676							
HP:0031677	biolink:PhenotypicFeature	Polymorphic ventricular tachycardia	A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).		hp.json		http://purl.obolibrary.org/obo/HP_0031677							
HP:0031678	biolink:PhenotypicFeature	Atherosclerotic lesion	A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.		hp.json		http://purl.obolibrary.org/obo/HP_0031678							
HP:0031679	biolink:PhenotypicFeature	Type I atherosclerotic lesion	Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).		hp.json		http://purl.obolibrary.org/obo/HP_0031679							
HP:0031680	biolink:PhenotypicFeature	Type II atherosclerotic lesion	Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.		hp.json		http://purl.obolibrary.org/obo/HP_0031680							
HP:0031681	biolink:PhenotypicFeature	Type III atherosclerotic lesion	Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.		hp.json		http://purl.obolibrary.org/obo/HP_0031681							
HP:0031682	biolink:PhenotypicFeature	Type V atherosclerotic lesion	Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.		hp.json		http://purl.obolibrary.org/obo/HP_0031682							
HP:0031683	biolink:PhenotypicFeature	Type VI atherosclerotic lesion	Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.		hp.json		http://purl.obolibrary.org/obo/HP_0031683							
HP:0031684	biolink:PhenotypicFeature	Renal artery atherosclerosis	An atherosclerotic lesion located in the renal artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031684							
HP:0031685	biolink:PhenotypicFeature	Abnormal stool composition			hp.json	Abnormal faeces composition|Abnormal feces composition	http://purl.obolibrary.org/obo/HP_0031685							
HP:0031686	biolink:PhenotypicFeature	Increased stool alpha1-antitrypsin concentration	An abnormally elevated amount of alpha1-antitrypsin in the feces.		hp.json		http://purl.obolibrary.org/obo/HP_0031686							
HP:0031687	biolink:PhenotypicFeature	Abnormally loud pulmonic component of the second heart sound			hp.json	Accentuation of the pulmonic component of the second heart sound	http://purl.obolibrary.org/obo/HP_0031687							
HP:0031688	biolink:PhenotypicFeature	Erythroid dysplasia	Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.		hp.json		http://purl.obolibrary.org/obo/HP_0031688							
HP:0031689	biolink:PhenotypicFeature	Megakaryocyte dysplasia	The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.		hp.json	Dysmegakaryopoiesis	http://purl.obolibrary.org/obo/HP_0031689							
HP:0031690	biolink:PhenotypicFeature	Opportunistic infection	An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.		hp.json		http://purl.obolibrary.org/obo/HP_0031690							
HP:0031691	biolink:PhenotypicFeature	Severe viral infection	An unusually severe viral infection.		hp.json		http://purl.obolibrary.org/obo/HP_0031691							
HP:0031692	biolink:PhenotypicFeature	Severe cytomegalovirus infection	An unusually severe infection by cytomegalovirus.		hp.json		http://purl.obolibrary.org/obo/HP_0031692							
HP:0031693	biolink:PhenotypicFeature	Severe Epstein Barr virus infection	An unusually severe Epstein Barr virus (EBV) infection.		hp.json	Fulminant infectious mononucleosis|Severe EBV infection	http://purl.obolibrary.org/obo/HP_0031693							
HP:0031694	biolink:PhenotypicFeature	Severe adenovirus infection	An unusually severe adenovirus infection.		hp.json		http://purl.obolibrary.org/obo/HP_0031694							
HP:0031695	biolink:PhenotypicFeature	Severe parainfluenza infection	An unusually severe infection by a parainfluenza virus.		hp.json		http://purl.obolibrary.org/obo/HP_0031695							
HP:0031696	biolink:PhenotypicFeature	Disseminated viral infection	A viral infection that fails to be contained by the immune sytem and spreads throughout the body.		hp.json		http://purl.obolibrary.org/obo/HP_0031696							
HP:0031697	biolink:PhenotypicFeature	Disseminated infection with live vaccine virus	A dissemination viral infection caused by a live attenuated vaccine virus.		hp.json		http://purl.obolibrary.org/obo/HP_0031697							
HP:0031698	biolink:PhenotypicFeature	obsolete Disseminated Bacillus Calmette-Guerin infection	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.json		http://purl.obolibrary.org/obo/HP_0031698							
HP:0031699	biolink:PhenotypicFeature	Disseminated cryptosporidium infection	Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0031699							
HP:0031700	biolink:PhenotypicFeature	Invasive parasitic infection	A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.		hp.json		http://purl.obolibrary.org/obo/HP_0031700							
HP:0031701	biolink:PhenotypicFeature	Anterior chamber inflammatory cells	The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.		hp.json		http://purl.obolibrary.org/obo/HP_0031701							
HP:0031702	biolink:PhenotypicFeature	Anterior chamber red blood cells	The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.		hp.json	Anterior chamber RBCs	http://purl.obolibrary.org/obo/HP_0031702							
HP:0031703	biolink:PhenotypicFeature	Abnormal ear morphology	Any structural anomaly of the ear.	Fyler:4867	hp.json		http://purl.obolibrary.org/obo/HP_0031703							
HP:0031704	biolink:PhenotypicFeature	Abnormal ear physiology	Any functional anomaly of the ear.		hp.json		http://purl.obolibrary.org/obo/HP_0031704							
HP:0031705	biolink:PhenotypicFeature	Compensatory head posture	A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.		hp.json		http://purl.obolibrary.org/obo/HP_0031705							
HP:0031706	biolink:PhenotypicFeature	Compensatory chin depression	A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.		hp.json		http://purl.obolibrary.org/obo/HP_0031706							
HP:0031707	biolink:PhenotypicFeature	Compensatory face turn to the right	A tendency to turn the face to the right to compensate for a limitation of eye movement.		hp.json		http://purl.obolibrary.org/obo/HP_0031707							
HP:0031708	biolink:PhenotypicFeature	Compensatory face turn to the left	A tendency to turn the face to the left to compensate for a limitation of eye movement.		hp.json		http://purl.obolibrary.org/obo/HP_0031708							
HP:0031709	biolink:PhenotypicFeature	Compensatory head tilt to the right shoulder	A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.		hp.json		http://purl.obolibrary.org/obo/HP_0031709							
HP:0031710	biolink:PhenotypicFeature	Compensatory head tilt to the left shoulder	A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.		hp.json		http://purl.obolibrary.org/obo/HP_0031710							
HP:0031711	biolink:PhenotypicFeature	Asymmetric abdominal aortic aneurysm	An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).		hp.json		http://purl.obolibrary.org/obo/HP_0031711							
HP:0031713	biolink:PhenotypicFeature	Constant exotropia	A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.		hp.json		http://purl.obolibrary.org/obo/HP_0031713							
HP:0031714	biolink:PhenotypicFeature	Distance exotropia	A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.		hp.json		http://purl.obolibrary.org/obo/HP_0031714							
HP:0031715	biolink:PhenotypicFeature	Near exotropia	An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).		hp.json		http://purl.obolibrary.org/obo/HP_0031715							
HP:0031716	biolink:PhenotypicFeature	Cyclic exotropia	A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.		hp.json		http://purl.obolibrary.org/obo/HP_0031716							
HP:0031717	biolink:PhenotypicFeature	Alternating exotropia	A type of exotropia in which either eye may be used for fixation.		hp.json	Alternating strabismus	http://purl.obolibrary.org/obo/HP_0031717							
HP:0031718	biolink:PhenotypicFeature	Consecutive exotropia	Exotropia in an individual who has previously had esotropia or esophoria.		hp.json		http://purl.obolibrary.org/obo/HP_0031718							
HP:0031719	biolink:PhenotypicFeature	True distance exotropia	Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.		hp.json		http://purl.obolibrary.org/obo/HP_0031719							
HP:0031720	biolink:PhenotypicFeature	Simulated distance exotropia	Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.		hp.json		http://purl.obolibrary.org/obo/HP_0031720							
HP:0031721	biolink:PhenotypicFeature	Sensory exotropia	A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.		hp.json	Secondary exotropia	http://purl.obolibrary.org/obo/HP_0031721							
HP:0031722	biolink:PhenotypicFeature	Near esotropia	An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.		hp.json	Non-accomodative convergence excess esotropia	http://purl.obolibrary.org/obo/HP_0031722							
HP:0031723	biolink:PhenotypicFeature	Secondary esotropia	Convergent squint which follows loss or impairment of vision.		hp.json	Sensory esotropia	http://purl.obolibrary.org/obo/HP_0031723							
HP:0031724	biolink:PhenotypicFeature	Microtropia	A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.		hp.json		http://purl.obolibrary.org/obo/HP_0031724							
HP:0031725	biolink:PhenotypicFeature	Hypophoria	A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.		hp.json		http://purl.obolibrary.org/obo/HP_0031725							
HP:0031726	biolink:PhenotypicFeature	Incyclotropia	A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.		hp.json		http://purl.obolibrary.org/obo/HP_0031726							
HP:0031727	biolink:PhenotypicFeature	Excyclotropia	A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.		hp.json		http://purl.obolibrary.org/obo/HP_0031727							
HP:0031728	biolink:PhenotypicFeature	Mild hypermetropia	A form of hypermetropia with not more than +2.00 diopters.		hp.json	Mild hyperopia	http://purl.obolibrary.org/obo/HP_0031728							
HP:0031729	biolink:PhenotypicFeature	Moderate hypermetropia	A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.		hp.json	Moderate hyperopia	http://purl.obolibrary.org/obo/HP_0031729							
HP:0031730	biolink:PhenotypicFeature	Axial myopia	A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.		hp.json		http://purl.obolibrary.org/obo/HP_0031730							
HP:0031731	biolink:PhenotypicFeature	Increased tear production	Increased lacrimation owing to overproduction of tears.		hp.json		http://purl.obolibrary.org/obo/HP_0031731							
HP:0031732	biolink:PhenotypicFeature	Increased basal tear production	A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.		hp.json		http://purl.obolibrary.org/obo/HP_0031732							
HP:0031733	biolink:PhenotypicFeature	Reflex tearing	A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).		hp.json		http://purl.obolibrary.org/obo/HP_0031733							
HP:0031734	biolink:PhenotypicFeature	Lacrimal pump failure	A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.		hp.json		http://purl.obolibrary.org/obo/HP_0031734							
HP:0031736	biolink:PhenotypicFeature	Involutional entropion	An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031736							
HP:0031737	biolink:PhenotypicFeature	Cicatricial entropion	Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.		hp.json		http://purl.obolibrary.org/obo/HP_0031737							
HP:0031738	biolink:PhenotypicFeature	Mechanical entropion	A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.		hp.json		http://purl.obolibrary.org/obo/HP_0031738							
HP:0031739	biolink:PhenotypicFeature	Abnormal oblique muscle physiology	A functional anomaly of the inferior or superior oblique muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031739							
HP:0031740	biolink:PhenotypicFeature	Abnormal horizontal rectus muscle physiology	A functional anomaly of the medial rectus muscle or lateral rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031740							
HP:0031741	biolink:PhenotypicFeature	Inferior oblique muscle underaction	Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.		hp.json		http://purl.obolibrary.org/obo/HP_0031741							
HP:0031742	biolink:PhenotypicFeature	Inferior rectus muscle underaction	Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.		hp.json		http://purl.obolibrary.org/obo/HP_0031742							
HP:0031743	biolink:PhenotypicFeature	Inferior rectus muscle overaction	Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.		hp.json		http://purl.obolibrary.org/obo/HP_0031743							
HP:0031744	biolink:PhenotypicFeature	Superior rectus muscle weakness	Decreased strength of the superior rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031744							
HP:0031745	biolink:PhenotypicFeature	Superior rectus muscle overaction	Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.		hp.json		http://purl.obolibrary.org/obo/HP_0031745							
HP:0031746	biolink:PhenotypicFeature	Superior rectus muscle restriction	Mechanical limitation of the range of movement of the superior rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031746							
HP:0031747	biolink:PhenotypicFeature	Superior rectus muscle underaction	Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.		hp.json		http://purl.obolibrary.org/obo/HP_0031747							
HP:0031748	biolink:PhenotypicFeature	Abnormal vertical rectus muscle physiology	A functional anomaly of the superior or inferior rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031748							
HP:0031749	biolink:PhenotypicFeature	Abnormal lateral rectus muscle physiology	A functional anomaly of the lateral rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031749							
HP:0031750	biolink:PhenotypicFeature	Lateral rectus muscle weakness	Decreased strength (ability to move) of the lateral rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031750							
HP:0031751	biolink:PhenotypicFeature	Lateral rectus muscle underaction	Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.		hp.json		http://purl.obolibrary.org/obo/HP_0031751							
HP:0031752	biolink:PhenotypicFeature	Lateral rectus muscle overaction	Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.		hp.json		http://purl.obolibrary.org/obo/HP_0031752							
HP:0031753	biolink:PhenotypicFeature	Medial rectus muscle weakness	Decreased strength of the medial rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031753							
HP:0031754	biolink:PhenotypicFeature	Medial rectus muscle overaction	Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.		hp.json		http://purl.obolibrary.org/obo/HP_0031754							
HP:0031755	biolink:PhenotypicFeature	Abnormal rectus muscle physiology	A functional anomaly of a vertical or horizontal rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031755							
HP:0031756	biolink:PhenotypicFeature	Medial rectus muscle underaction	Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.		hp.json		http://purl.obolibrary.org/obo/HP_0031756							
HP:0031757	biolink:PhenotypicFeature	Medial rectus muscle restriction	Mechanical limitation of the range of movement of the medial rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031757							
HP:0031758	biolink:PhenotypicFeature	Lateral rectus muscle restriction	Mechanical limitation of the range of movement of the lateral rectus muscle.		hp.json		http://purl.obolibrary.org/obo/HP_0031758							
HP:0031759	biolink:PhenotypicFeature	Basic constant esotropia	A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).		hp.json	Basic (constant) esotropia	http://purl.obolibrary.org/obo/HP_0031759							
HP:0031760	biolink:PhenotypicFeature	Non-accomodative esotropia	A form of esotropia in which the angle of deviation is not affected by accommodative effort.		hp.json		http://purl.obolibrary.org/obo/HP_0031760							
HP:0031761	biolink:PhenotypicFeature	Infantile constant esotropia	Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.		hp.json	Infantile (constant) esotropia	http://purl.obolibrary.org/obo/HP_0031761							
HP:0031762	biolink:PhenotypicFeature	Distance esotropia	An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.		hp.json	Divergence insufficiency	http://purl.obolibrary.org/obo/HP_0031762							
HP:0031763	biolink:PhenotypicFeature	Cyclic esotropia	Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.		hp.json		http://purl.obolibrary.org/obo/HP_0031763							
HP:0031764	biolink:PhenotypicFeature	Fully accomodative esotropia	Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.		hp.json		http://purl.obolibrary.org/obo/HP_0031764							
HP:0031765	biolink:PhenotypicFeature	Partially accomodative esotropia	A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.		hp.json	Constant esotropia with an accommodative component|Constant esotropia with an accommodative element	http://purl.obolibrary.org/obo/HP_0031765							
HP:0031766	biolink:PhenotypicFeature	Convergence excess esotropia	An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.		hp.json		http://purl.obolibrary.org/obo/HP_0031766							
HP:0031767	biolink:PhenotypicFeature	Consecutive esotropia	Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.		hp.json		http://purl.obolibrary.org/obo/HP_0031767							
HP:0031768	biolink:PhenotypicFeature	Parafoveal fixation	Fixation of an object in the area adjacent to the fovea.		hp.json		http://purl.obolibrary.org/obo/HP_0031768							
HP:0031769	biolink:PhenotypicFeature	Peripheral fixation	Fixation of an object in a peripheral area of the retina.		hp.json		http://purl.obolibrary.org/obo/HP_0031769							
HP:0031770	biolink:PhenotypicFeature	Epicanthus palpebralis	A type of epicanthus in which a medial vertical fold is present between upper and lower lids.		hp.json		http://purl.obolibrary.org/obo/HP_0031770							
HP:0031771	biolink:PhenotypicFeature	Epicanthus tarsalis	A type of epicanthus in which a primarily upper lid fold is present.		hp.json		http://purl.obolibrary.org/obo/HP_0031771							
HP:0031772	biolink:PhenotypicFeature	Abnormal posterior circulating artery morphology	Any structural anomaly of the posterior circulating artery (PCOM).		hp.json		http://purl.obolibrary.org/obo/HP_0031772							
HP:0031773	biolink:PhenotypicFeature	Posterior communicating artery aneurysm	A widening (ballooning) localized in the wall of the posterior communicating artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031773							
HP:0031774	biolink:PhenotypicFeature	Posterior communicating artery infundibulum	A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.		hp.json		http://purl.obolibrary.org/obo/HP_0031774							
HP:0031775	biolink:PhenotypicFeature	Neurogenic strabismus	An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.		hp.json	Paralytic strabismus	http://purl.obolibrary.org/obo/HP_0031775							
HP:0031776	biolink:PhenotypicFeature	Cyclotropia	A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).		hp.json		http://purl.obolibrary.org/obo/HP_0031776							
HP:0031777	biolink:PhenotypicFeature	Cyclophoria	A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.		hp.json		http://purl.obolibrary.org/obo/HP_0031777							
HP:0031778	biolink:PhenotypicFeature	Incyclophoria	A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.		hp.json		http://purl.obolibrary.org/obo/HP_0031778							
HP:0031779	biolink:PhenotypicFeature	Excyclophoria	A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.		hp.json		http://purl.obolibrary.org/obo/HP_0031779							
HP:0031780	biolink:PhenotypicFeature	Eosinophilic ascites	A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0031780							
HP:0031781	biolink:PhenotypicFeature	Microtropia with identity	A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.		hp.json		http://purl.obolibrary.org/obo/HP_0031781							
HP:0031782	biolink:PhenotypicFeature	Microtropia without identity	A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.		hp.json		http://purl.obolibrary.org/obo/HP_0031782							
HP:0031783	biolink:PhenotypicFeature	Absent coronary sinus	A developmental defect in which the coronary sinus fails to form.	Fyler:2841	hp.json		http://purl.obolibrary.org/obo/HP_0031783							
HP:0031784	biolink:PhenotypicFeature	Abnormal ascending aorta morphology	Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.	Fyler:1431	hp.json		http://purl.obolibrary.org/obo/HP_0031784							
HP:0031785	biolink:PhenotypicFeature	Abnormal eyelid movement	An abnormality in voluntary or involuntary eyelid movements or their control.		hp.json		http://purl.obolibrary.org/obo/HP_0031785							
HP:0031786	biolink:PhenotypicFeature	Cogan lid twitch	Transient eyelid retraction during refixation from down to straight ahead.		hp.json	Cogan eyelid twitch|Eyelid twitch|Lid twitch	http://purl.obolibrary.org/obo/HP_0031786							
HP:0031787	biolink:PhenotypicFeature	Oblique astigmatism	Astigmatism in which the refractive power of the vertical meridian is the greatest.		hp.json		http://purl.obolibrary.org/obo/HP_0031787							
HP:0031788	biolink:PhenotypicFeature	With the rule astigmatism	Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).		hp.json		http://purl.obolibrary.org/obo/HP_0031788							
HP:0031789	biolink:PhenotypicFeature	Against the rule astigmatism	Astigmatism with more plus power on the horizontal meridian.		hp.json		http://purl.obolibrary.org/obo/HP_0031789							
HP:0031790	biolink:PhenotypicFeature	Mixed astigmatism	A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).		hp.json		http://purl.obolibrary.org/obo/HP_0031790							
HP:0031791	biolink:PhenotypicFeature	Lenticular astigmatism	A type of astigmatism related to an irregular shape of the lens.		hp.json		http://purl.obolibrary.org/obo/HP_0031791							
HP:0031792	biolink:PhenotypicFeature	Irregular astigmatism	A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.		hp.json		http://purl.obolibrary.org/obo/HP_0031792							
HP:0031793	biolink:PhenotypicFeature	Increased serum leptin	An increased concentration of leptin in the blood.		hp.json	Elevated circulating leptin level	http://purl.obolibrary.org/obo/HP_0031793							
HP:0031794	biolink:PhenotypicFeature	Decreased circulating glycerol level	A decrease below the normal concentration of glycerol in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031794							
HP:0031795	biolink:PhenotypicFeature	Abnormal circulating glycerol level	Any deviation from the normal concentration of glycerol in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031795							
HP:0031796	biolink:PhenotypicFeature	Recurrent	Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.		hp.json	Intermittent	http://purl.obolibrary.org/obo/HP_0031796							
HP:0031797	biolink:PhenotypicFeature	Clinical course	The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.		hp.json	Natural history of disease	http://purl.obolibrary.org/obo/HP_0031797							
HP:0031798	biolink:PhenotypicFeature	Elevated circulating apolipoprotein B concentration	Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.		hp.json	Elevated ApoB level|Elevated apolipoprotein B level	http://purl.obolibrary.org/obo/HP_0031798							
HP:0031799	biolink:PhenotypicFeature	Decreased circulating apolipoprotein AI concentration	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.json	Decreased apo-AI level|Decreased apoA-I level|Decreased apolipoprotein AI level	http://purl.obolibrary.org/obo/HP_0031799							
HP:0031800	biolink:PhenotypicFeature	Elevated circulating apolipoprotein A-II concentration	An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.		hp.json	Elevated APOAII level|Elevated Apo-AII level|Elevated apoA-II level|Elevated apolipoprotein A-II level	http://purl.obolibrary.org/obo/HP_0031800							
HP:0031801	biolink:PhenotypicFeature	Vocal cord dysfunction	Any functional anomaly of the vocal cord.		hp.json		http://purl.obolibrary.org/obo/HP_0031801							
HP:0031803	biolink:PhenotypicFeature	Fundus hemorrhage	Bleeding within the fundus of the eye.		hp.json	Fundus haemorrhage	http://purl.obolibrary.org/obo/HP_0031803							
HP:0031804	biolink:PhenotypicFeature	Premacular hemorrhage			hp.json	Premacular haemorrhage	http://purl.obolibrary.org/obo/HP_0031804							
HP:0031805	biolink:PhenotypicFeature	Intraretinal hemorrhage	A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.		hp.json	Intraretinal haemorrhage	http://purl.obolibrary.org/obo/HP_0031805							
HP:0031806	biolink:PhenotypicFeature	Abnormal basophil count	Any deviation from the normal number of basophils per volume in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031806							
HP:0031807	biolink:PhenotypicFeature	Increased basophil count	An abnormally increased count of basophils per volume in the blood circulation.		hp.json	Basophilia	http://purl.obolibrary.org/obo/HP_0031807							
HP:0031808	biolink:PhenotypicFeature	Decreased basophil count	An abnormally reduced count of basophils per volume in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031808							
HP:0031809	biolink:PhenotypicFeature	Archibald's sign	Shortening of the fourth and fifth metacarpals when the fist is clenched.		hp.json	Knuckle dimple|Archibald's metacarpal sign	http://purl.obolibrary.org/obo/HP_0031809							
HP:0031810	biolink:PhenotypicFeature	Anti-ganglioside antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.		hp.json		http://purl.obolibrary.org/obo/HP_0031810							
HP:0031811	biolink:PhenotypicFeature	Bilirubinuria	Presence of conjugated bilirubin in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031811							
HP:0031812	biolink:PhenotypicFeature	Nitrituria	Presence of nitrites in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031812							
HP:0031813	biolink:PhenotypicFeature	Colonic eosinophilia	An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.		hp.json	Eosinophilic colitis|Eosinophilic infiltration in the colon	http://purl.obolibrary.org/obo/HP_0031813							
HP:0031814	biolink:PhenotypicFeature	Palilalia	Repetition of one's own words or phrases.		hp.json		http://purl.obolibrary.org/obo/HP_0031814							
HP:0031815	biolink:PhenotypicFeature	Abnormal oral physiology	A functional anomaly of the mouth (which is also known as the oral cavity).		hp.json		http://purl.obolibrary.org/obo/HP_0031815							
HP:0031816	biolink:PhenotypicFeature	Abnormal oral morphology	Any structural anomaly of the mouth, which is also known as the oral cavity.		hp.json		http://purl.obolibrary.org/obo/HP_0031816							
HP:0031817	biolink:PhenotypicFeature	Decreased circulating parathyroid hormone level	An abnormally decreased concentration of parathyroid hormone.		hp.json	Decreased circulating PTH level|Decreased serum PTH|Decreased serum parathyroid hormone|Decreased serum parathyroid hormone level	http://purl.obolibrary.org/obo/HP_0031817							
HP:0031818	biolink:PhenotypicFeature	Abnormal waist to hip ratio	A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.		hp.json		http://purl.obolibrary.org/obo/HP_0031818							
HP:0031819	biolink:PhenotypicFeature	Increased waist to hip ratio	Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.		hp.json	Increased WHR|Increased waist-hip ratio|Increased waist-to-hip ratio	http://purl.obolibrary.org/obo/HP_0031819							
HP:0031820	biolink:PhenotypicFeature	Decreased waist to hip ratio	Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.		hp.json	Decreased WHR|Decreased waist-hip ratio|Decreased waist-to-hip ratio	http://purl.obolibrary.org/obo/HP_0031820							
HP:0031821	biolink:PhenotypicFeature	Abnormal hypoxanthine-guanine phosphoribosyltransferase level	Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.		hp.json	Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GMP pyrophosphorylase level|Abnormal GPRT level	http://purl.obolibrary.org/obo/HP_0031821							
HP:0031822	biolink:PhenotypicFeature	Elevated hypoxanthine-guanine phosphoribosyltransferase level	Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.		hp.json	Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level	http://purl.obolibrary.org/obo/HP_0031822							
HP:0031823	biolink:PhenotypicFeature	Reduced hypoxanthine-guanine phosphoribosyltransferase level	Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.		hp.json	Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced 6-mercaptopurine phosphoribosyltransferase level|Reduced GMP pyrophosphorylase level	http://purl.obolibrary.org/obo/HP_0031823							
HP:0031824	biolink:PhenotypicFeature	Hepatic mastocytosis	Liver mast cell infiltration.		hp.json		http://purl.obolibrary.org/obo/HP_0031824							
HP:0031825	biolink:PhenotypicFeature	Freezing of gait	Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.		hp.json	Freezing gait	http://purl.obolibrary.org/obo/HP_0031825							
HP:0031826	biolink:PhenotypicFeature	Abnormal reflex	Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).		hp.json		http://purl.obolibrary.org/obo/HP_0031826							
HP:0031827	biolink:PhenotypicFeature	Absent abdominal reflex	Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.		hp.json	Abdominal reflex absent	http://purl.obolibrary.org/obo/HP_0031827							
HP:0031828	biolink:PhenotypicFeature	Abnormal superficial reflex	An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.		hp.json		http://purl.obolibrary.org/obo/HP_0031828							
HP:0031829	biolink:PhenotypicFeature	Absent cremaster reflex	Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.		hp.json	Absent cremasteric reflex	http://purl.obolibrary.org/obo/HP_0031829							
HP:0031830	biolink:PhenotypicFeature	Pinguecula	A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.		hp.json		http://purl.obolibrary.org/obo/HP_0031830							
HP:0031831	biolink:PhenotypicFeature	Decreased serum zinc	A reduced concentration of zinc in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031831							
HP:0031832	biolink:PhenotypicFeature	Hypermetric downward saccades	Overshoot of downward saccadic eye movements.		hp.json		http://purl.obolibrary.org/obo/HP_0031832							
HP:0031833	biolink:PhenotypicFeature	Hypometric upward saccades	Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.		hp.json		http://purl.obolibrary.org/obo/HP_0031833							
HP:0031834	biolink:PhenotypicFeature	Aortopulmonary collateral arteries	Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.		hp.json		http://purl.obolibrary.org/obo/HP_0031834							
HP:0031835	biolink:PhenotypicFeature	Abnormal superoxide dismutase level	An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.		hp.json	Abnormal superoxide:superoxide oxidoreductase activity	http://purl.obolibrary.org/obo/HP_0031835							
HP:0031836	biolink:PhenotypicFeature	Increased superoxide dismutase level	Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.		hp.json	Increased superoxide:superoxide oxidoreductase activity	http://purl.obolibrary.org/obo/HP_0031836							
HP:0031837	biolink:PhenotypicFeature	Decreased superoxide dismutase level	Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.		hp.json	Decreased superoxide:superoxide oxidoreductase activity	http://purl.obolibrary.org/obo/HP_0031837							
HP:0031838	biolink:PhenotypicFeature	Presence of xenobiotic	Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.		hp.json		http://purl.obolibrary.org/obo/HP_0031838							
HP:0031840	biolink:PhenotypicFeature	Urine xenobiotic	The presence of a xenobiotic in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031840							
HP:0031841	biolink:PhenotypicFeature	Positive urine methadone test	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031841							
HP:0031842	biolink:PhenotypicFeature	Lymphangiectasis	Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.		hp.json	Lymphangiectasia	http://purl.obolibrary.org/obo/HP_0031842							
HP:0031843	biolink:PhenotypicFeature	Bradyphrenia	Abnormal slowness of thought processes.		hp.json	Mental slowness|Slowed thinking|Slowness of thought|Slowed thoughts	http://purl.obolibrary.org/obo/HP_0031843							
HP:0031844	biolink:PhenotypicFeature	Euphoria	A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.		hp.json		http://purl.obolibrary.org/obo/HP_0031844							
HP:0031845	biolink:PhenotypicFeature	Abnormal libido	Any deviation from the normal sexual drive or desire for sexual activity.		hp.json		http://purl.obolibrary.org/obo/HP_0031845							
HP:0031846	biolink:PhenotypicFeature	Femur fracture	A break or crush injury of the thigh bone (femur).	MSH:D005264	hp.json	Femoral fracture	http://purl.obolibrary.org/obo/HP_0031846							
HP:0031847	biolink:PhenotypicFeature	Difficulty walking backward	Reduced ability to walk (ambulate) in a backwards direction.		hp.json		http://purl.obolibrary.org/obo/HP_0031847							
HP:0031848	biolink:PhenotypicFeature	Cock-walk gait	An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.		hp.json		http://purl.obolibrary.org/obo/HP_0031848							
HP:0031849	biolink:PhenotypicFeature	Sleep-wake inversion	A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.		hp.json		http://purl.obolibrary.org/obo/HP_0031849							
HP:0031850	biolink:PhenotypicFeature	Abnormal hematocrit	Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.		hp.json	Abnormal Hct	http://purl.obolibrary.org/obo/HP_0031850							
HP:0031851	biolink:PhenotypicFeature	Reduced hematocrit	A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.		hp.json	Reduced Hct|Low hematocrit	http://purl.obolibrary.org/obo/HP_0031851							
HP:0031853	biolink:PhenotypicFeature	Isomerism	Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.		hp.json		http://purl.obolibrary.org/obo/HP_0031853							
HP:0031854	biolink:PhenotypicFeature	Left Isomerism	A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.		hp.json	Left-sided isomerism	http://purl.obolibrary.org/obo/HP_0031854							
HP:0031855	biolink:PhenotypicFeature	Right isomerism	A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.		hp.json	Right-sided isomerism	http://purl.obolibrary.org/obo/HP_0031855							
HP:0031856	biolink:PhenotypicFeature	Hobby horse gait	An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.		hp.json		http://purl.obolibrary.org/obo/HP_0031856							
HP:0031857	biolink:PhenotypicFeature	Ineffective esophageal peristalsis	Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.		hp.json		http://purl.obolibrary.org/obo/HP_0031857							
HP:0031858	biolink:PhenotypicFeature	Esophageal furrows	Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).		hp.json		http://purl.obolibrary.org/obo/HP_0031858							
HP:0031860	biolink:PhenotypicFeature	Abnormal heart rate variability	Any abnormality in the variability of the time interval between successive heartbeats.		hp.json		http://purl.obolibrary.org/obo/HP_0031860							
HP:0031861	biolink:PhenotypicFeature	Decreased heart rate variability	Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.		hp.json	Reduced heart rate variability	http://purl.obolibrary.org/obo/HP_0031861							
HP:0031862	biolink:PhenotypicFeature	Increased heart rate variability	Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.		hp.json		http://purl.obolibrary.org/obo/HP_0031862							
HP:0031863	biolink:PhenotypicFeature	Bloodstream infectious agent	The presence of an infectious agent in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031863							
HP:0031864	biolink:PhenotypicFeature	Bacteremia	Presence of viable bacteria in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031864							
HP:0031865	biolink:PhenotypicFeature	Abnormal liver physiology	Any functional anomaly of the liver.		hp.json	Abnormal hepatic physiology	http://purl.obolibrary.org/obo/HP_0031865							
HP:0031866	biolink:PhenotypicFeature	Clasp-knife sign	Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.		hp.json		http://purl.obolibrary.org/obo/HP_0031866							
HP:0031867	biolink:PhenotypicFeature	Neck hypertonia	Increased passive stiffness or tightness of the neck musculature.		hp.json		http://purl.obolibrary.org/obo/HP_0031867							
HP:0031868	biolink:PhenotypicFeature	Optic ataxia	Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.		hp.json		http://purl.obolibrary.org/obo/HP_0031868							
HP:0031869	biolink:PhenotypicFeature	Recurrent joint dislocation	Dislocation of a given joint repeated times.		hp.json		http://purl.obolibrary.org/obo/HP_0031869							
HP:0031870	biolink:PhenotypicFeature	Phosphohydroxylysinuria	An elevated concentration of phosphohydroxylysine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031870							
HP:0031871	biolink:PhenotypicFeature	Abnormal Langerhans cell morphology	Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.		hp.json		http://purl.obolibrary.org/obo/HP_0031871							
HP:0031872	biolink:PhenotypicFeature	Absent Birbeck granules in Langerhans cells	Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0031872							
HP:0031873	biolink:PhenotypicFeature	Early chronotype	A tendency towards rising very early in the morning and going to bed early in the evening.		hp.json	Early sleep onset	http://purl.obolibrary.org/obo/HP_0031873							
HP:0031874	biolink:PhenotypicFeature	Late chronotype	A tendency towards rising very late in the morning and going to bed late at night.		hp.json	Late sleep onset	http://purl.obolibrary.org/obo/HP_0031874							
HP:0031875	biolink:PhenotypicFeature	Abnormal hepcidin level	Any deviation from the normal concentration of hepcidin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031875							
HP:0031876	biolink:PhenotypicFeature	Decreased hepcidin level	An abnormally reduced concentration of hepcidin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031876							
HP:0031877	biolink:PhenotypicFeature	Elevated hepcidin level	An abnormally increased concentration of hepcidin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031877							
HP:0031878	biolink:PhenotypicFeature	Acromicria	Small hands and feet in proportion to the rest of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0031878							
HP:0031879	biolink:PhenotypicFeature	Abnormal eyelid physiology	Any functional abnormality of the eyelid.		hp.json		http://purl.obolibrary.org/obo/HP_0031879							
HP:0031880	biolink:PhenotypicFeature	Eyelid laxity	Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.		hp.json	Lid laxity	http://purl.obolibrary.org/obo/HP_0031880							
HP:0031881	biolink:PhenotypicFeature	Decreased tear drainage	A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.		hp.json		http://purl.obolibrary.org/obo/HP_0031881							
HP:0031882	biolink:PhenotypicFeature	Agyria	A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.		hp.json	Agyria diffuse	http://purl.obolibrary.org/obo/HP_0031882							
HP:0031883	biolink:PhenotypicFeature	Increased proinsulin:insulin ratio	An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031883							
HP:0031884	biolink:PhenotypicFeature	Abnormal CSF glucose level	A deviation from normal concentration of glucose content in the cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0031884							
HP:0031885	biolink:PhenotypicFeature	Hyperglycorrhachia	Abnormally high glucose concentration in the cerebrospinal fluid.		hp.json	Increased CSF glucose	http://purl.obolibrary.org/obo/HP_0031885							
HP:0031886	biolink:PhenotypicFeature	Abnormal LDL cholesterol concentration	Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.		hp.json	Abnormal LDL-C concentration|Abnormal LDL-C level|Abnormal LDLc concentration	http://purl.obolibrary.org/obo/HP_0031886							
HP:0031887	biolink:PhenotypicFeature	Abnormal chylomicron concentration	Any deviation from the normal circulating concentration of chylomicrons.		hp.json		http://purl.obolibrary.org/obo/HP_0031887							
HP:0031888	biolink:PhenotypicFeature	Abnormal HDL cholesterol concentration	Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031888							
HP:0031889	biolink:PhenotypicFeature	Abnormal VLDL cholesterol concentration	Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0031889							
HP:0031890	biolink:PhenotypicFeature	Increased urine urobilinogen	An elevated concentration of urobilinogen in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031890							
HP:0031891	biolink:PhenotypicFeature	Decreased eosinophil count	Abnormal reduction in the count of eosinophils in the blood per volume.		hp.json		http://purl.obolibrary.org/obo/HP_0031891							
HP:0031898	biolink:PhenotypicFeature	Rouleaux formation	Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.		hp.json	Increased rouleaux formation	http://purl.obolibrary.org/obo/HP_0031898							
HP:0031899	biolink:PhenotypicFeature	Abnormal coagulation factor V activity	Any deviation from the activity of coagulation factor V.		hp.json	Abnormal factor V activity	http://purl.obolibrary.org/obo/HP_0031899							
HP:0031900	biolink:PhenotypicFeature	obsolete Abnormal serum tryptase concentration			hp.json		http://purl.obolibrary.org/obo/HP_0031900							
HP:0031901	biolink:PhenotypicFeature	Elevated total serum tryptase	An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031901							
HP:0031902	biolink:PhenotypicFeature	obsolete Decreased serum mast cell beta-tryptase concentration			hp.json		http://purl.obolibrary.org/obo/HP_0031902							
HP:0031903	biolink:PhenotypicFeature	Abnormal circulating selenium concentration	Any deviation from the normal circulating concentration of selenium.		hp.json	Abnormal serum selenium concentration	http://purl.obolibrary.org/obo/HP_0031903							
HP:0031904	biolink:PhenotypicFeature	Abnormal total hemolytic complement activity	Any deviation from the normal total hemolytic complement activity in the circulation.		hp.json	Abnormal CH50	http://purl.obolibrary.org/obo/HP_0031904							
HP:0031905	biolink:PhenotypicFeature	Increased total hemolytic complement activity	An abnormally elevated total hemolytic complement activity in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031905							
HP:0031906	biolink:PhenotypicFeature	Decreased total hemolytic complement activity	An abnormally reduced total hemolytic complement activity in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031906							
HP:0031907	biolink:PhenotypicFeature	Anti-mitochondrial M2 antibody positivity	The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.		hp.json	AMA-M2 positive|Anti-pyruvate dehydrogenase antibody positivity	http://purl.obolibrary.org/obo/HP_0031907							
HP:0031908	biolink:PhenotypicFeature	Micrographia	Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.		hp.json		http://purl.obolibrary.org/obo/HP_0031908							
HP:0031909	biolink:PhenotypicFeature	Unicornuate uterus	A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.		hp.json		http://purl.obolibrary.org/obo/HP_0031909							
HP:0031910	biolink:PhenotypicFeature	Abnormal cranial nerve physiology	A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.		hp.json		http://purl.obolibrary.org/obo/HP_0031910							
HP:0031911	biolink:PhenotypicFeature	Abnormal fifth cranial nerve physiology			hp.json		http://purl.obolibrary.org/obo/HP_0031911							
HP:0031912	biolink:PhenotypicFeature	Trigeminal anesthesia	Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.		hp.json	Trigeminal anaesthesia	http://purl.obolibrary.org/obo/HP_0031912							
HP:0031913	biolink:PhenotypicFeature	Rhombencephalosynapsis	Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.		hp.json		http://purl.obolibrary.org/obo/HP_0031913							
HP:0031914	biolink:PhenotypicFeature	Fluctuating	Varying irregularly over time in severity, amount, or amplitude.		hp.json		http://purl.obolibrary.org/obo/HP_0031914							
HP:0031915	biolink:PhenotypicFeature	Stable	This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.		hp.json		http://purl.obolibrary.org/obo/HP_0031915							
HP:0031917	biolink:PhenotypicFeature	Digital ulcer	An open sore on the surface of the skin of a finger or toe.		hp.json		http://purl.obolibrary.org/obo/HP_0031917							
HP:0031918	biolink:PhenotypicFeature	Ovarian sex cord-stromal tumor	A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.		hp.json	Ovarian sex cord-stromal tumour	http://purl.obolibrary.org/obo/HP_0031918							
HP:0031919	biolink:PhenotypicFeature	Juvenile type ovarian granulosa cell tumor	Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.		hp.json	Juvenile type ovarian granulosa cell tumour|Ovarian juvenile granulosa cell tumour|Ovarian juvenile granulosa cell tumor	http://purl.obolibrary.org/obo/HP_0031919							
HP:0031920	biolink:PhenotypicFeature	Malignant ovarian granulosa cell tumor	An aggressive granulosa cell tumor that arises from the ovary.		hp.json	Malignant ovarian granulosa cell tumour	http://purl.obolibrary.org/obo/HP_0031920							
HP:0031921	biolink:PhenotypicFeature	Gastrocnemius myalgia	Pain of the gastrocnemius muscle.		hp.json	Calf muscle pain|Calf myalgia	http://purl.obolibrary.org/obo/HP_0031921							
HP:0031922	biolink:PhenotypicFeature	Renal artery duplication	The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.		hp.json	Accessory renal artery|Double renal artery	http://purl.obolibrary.org/obo/HP_0031922							
HP:0031923	biolink:PhenotypicFeature	Hematocolpos	Accumulation of blood in the vagina usually due to vaginal obstruction.		hp.json	Haematocolpos	http://purl.obolibrary.org/obo/HP_0031923							
HP:0031924	biolink:PhenotypicFeature	Rope sign	The presence of linear erythematous palpable cords, often on the lateral trunk.		hp.json		http://purl.obolibrary.org/obo/HP_0031924							
HP:0031925	biolink:PhenotypicFeature	Rosette	A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.		hp.json		http://purl.obolibrary.org/obo/HP_0031925							
HP:0031926	biolink:PhenotypicFeature	Homer Wright rosette	A type of rosette in which the central lumen or hub is filled with fiber-like processes.		hp.json		http://purl.obolibrary.org/obo/HP_0031926							
HP:0031927	biolink:PhenotypicFeature	Flexner-Wintersteiner rosette	The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.		hp.json		http://purl.obolibrary.org/obo/HP_0031927							
HP:0031928	biolink:PhenotypicFeature	True ependymal rosette	A type of rosette in which a halo of cells surrounds an empty lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0031928							
HP:0031929	biolink:PhenotypicFeature	Perivascular pseudorosette	A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.		hp.json		http://purl.obolibrary.org/obo/HP_0031929							
HP:0031930	biolink:PhenotypicFeature	Neurocytic rosette	A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.		hp.json	Pineocytomatous rosette	http://purl.obolibrary.org/obo/HP_0031930							
HP:0031931	biolink:PhenotypicFeature	Ocular flutter	Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031931							
HP:0031932	biolink:PhenotypicFeature	Aorto-left ventricular tunnel	Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.		hp.json	Left ventricle to aorta tunnel	http://purl.obolibrary.org/obo/HP_0031932							
HP:0031933	biolink:PhenotypicFeature	Aorto-right ventricular tunnel	The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.		hp.json	Right ventricle to aorta tunnel	http://purl.obolibrary.org/obo/HP_0031933							
HP:0031934	biolink:PhenotypicFeature	Abnormal descending aorta morphology	A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.		hp.json		http://purl.obolibrary.org/obo/HP_0031934							
HP:0031935	biolink:PhenotypicFeature	Ascending aorta hypoplasia	Significant luminal narrowing of a long segment of or the entire ascending aorta.		hp.json		http://purl.obolibrary.org/obo/HP_0031935							
HP:0031936	biolink:PhenotypicFeature	Delayed ability to walk	A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.		hp.json	Delayed walking	http://purl.obolibrary.org/obo/HP_0031936							
HP:0031937	biolink:PhenotypicFeature	Tachylalia	Extreme rapidity of speech.		hp.json	Tachylogia	http://purl.obolibrary.org/obo/HP_0031937							
HP:0031938	biolink:PhenotypicFeature	Abnormal conus terminalis morphology	Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).		hp.json	Abnormal conus medullaris morphology	http://purl.obolibrary.org/obo/HP_0031938							
HP:0031939	biolink:PhenotypicFeature	Conus terminalis arteriovenous malformation			hp.json		http://purl.obolibrary.org/obo/HP_0031939							
HP:0031941	biolink:PhenotypicFeature	Abnormal portal venous system morphology	Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.		hp.json		http://purl.obolibrary.org/obo/HP_0031941							
HP:0031942	biolink:PhenotypicFeature	Congenital absence of portal vein	Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.		hp.json	CAPV|Missing portal vein	http://purl.obolibrary.org/obo/HP_0031942							
HP:0031943	biolink:PhenotypicFeature	Akathisia	A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.		hp.json		http://purl.obolibrary.org/obo/HP_0031943							
HP:0031944	biolink:PhenotypicFeature	Pleural thickening	An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.		hp.json	Pleural incrassation	http://purl.obolibrary.org/obo/HP_0031944							
HP:0031945	biolink:PhenotypicFeature	Elevated N,N-dimethylglycine level	An increased concentration of N,N-dimethylglycine in the circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0031945							
HP:0031946	biolink:PhenotypicFeature	Elevated urinary N,N-dimethylglycine level	An increased concentration of N,N-dimethylglycine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031946							
HP:0031947	biolink:PhenotypicFeature	Tongue tremor	An unintentional, oscillating to-and-fro muscle movement affecting the tongue.		hp.json	Jerky movements of the tongue	http://purl.obolibrary.org/obo/HP_0031947							
HP:0031948	biolink:PhenotypicFeature	Snowball lesion of corpus callosum	Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.		hp.json		http://purl.obolibrary.org/obo/HP_0031948							
HP:0031949	biolink:PhenotypicFeature	Recurrent bacterial upper respiratory tract infections	An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).		hp.json	Recurrent bacterial URI	http://purl.obolibrary.org/obo/HP_0031949							
HP:0031950	biolink:PhenotypicFeature	Usual interstitial pneumonia	Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.		hp.json		http://purl.obolibrary.org/obo/HP_0031950							
HP:0031951	biolink:PhenotypicFeature	Nocturnal seizures	Seizures that occur while the affected individual is sleeping.		hp.json	Sleep seizures	http://purl.obolibrary.org/obo/HP_0031951							
HP:0031952	biolink:PhenotypicFeature	Neurogenic claudication	Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.		hp.json		http://purl.obolibrary.org/obo/HP_0031952							
HP:0031953	biolink:PhenotypicFeature	Cautious gait	Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.		hp.json	Senile gait	http://purl.obolibrary.org/obo/HP_0031953							
HP:0031954	biolink:PhenotypicFeature	Dystonic gait	Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.		hp.json		http://purl.obolibrary.org/obo/HP_0031954							
HP:0031955	biolink:PhenotypicFeature	Antalgic gait	To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.		hp.json	Limp	http://purl.obolibrary.org/obo/HP_0031955							
HP:0031956	biolink:PhenotypicFeature	Elevated circulating aspartate aminotransferase concentration	An abnormally high concentration in the circulation of aspartate aminotransferase (AST).		hp.json	Elevated serum AST|Aspartate aminotransferase increased|Elevated serum aspartate aminotransferase|Elevated serum glutamic oxaloacetic transaminase	http://purl.obolibrary.org/obo/HP_0031956							
HP:0031957	biolink:PhenotypicFeature	Spastic hemiparetic gait	Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.		hp.json	Wernicke-Mann gait	http://purl.obolibrary.org/obo/HP_0031957							
HP:0031958	biolink:PhenotypicFeature	Spastic paraparetic gait	A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.		hp.json		http://purl.obolibrary.org/obo/HP_0031958							
HP:0031959	biolink:PhenotypicFeature	Leg dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.		hp.json		http://purl.obolibrary.org/obo/HP_0031959							
HP:0031960	biolink:PhenotypicFeature	Arm dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.		hp.json		http://purl.obolibrary.org/obo/HP_0031960							
HP:0031961	biolink:PhenotypicFeature	Abnormal serum anion gap	Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.		hp.json		http://purl.obolibrary.org/obo/HP_0031961							
HP:0031962	biolink:PhenotypicFeature	Elevated serum anion gap	An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).		hp.json		http://purl.obolibrary.org/obo/HP_0031962							
HP:0031963	biolink:PhenotypicFeature	Decreased serum anion gap	An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).		hp.json		http://purl.obolibrary.org/obo/HP_0031963							
HP:0031964	biolink:PhenotypicFeature	Elevated circulating alanine aminotransferase concentration	An abnormally high concentration in the circulation of alanine aminotransferase (ALT).		hp.json	Elevated serum ALT|Alanine aminotransferase increased|Elevated serum alanine aminotransferase|Elevated serum glutamic-pyruvic transaminase	http://purl.obolibrary.org/obo/HP_0031964							
HP:0031965	biolink:PhenotypicFeature	Increased RBC distribution width	Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.		hp.json	Increased red blood cell distribution width	http://purl.obolibrary.org/obo/HP_0031965							
HP:0031967	biolink:PhenotypicFeature	Cloudy urine	The appearance of the urine having visible material in suspension, i.e., appearing cloudy.		hp.json	Turbid urine	http://purl.obolibrary.org/obo/HP_0031967							
HP:0031969	biolink:PhenotypicFeature	Reduced blood urea nitrogen	An abnormally low concentration of urea nitrogen in the blood.		hp.json	Reduced BUN	http://purl.obolibrary.org/obo/HP_0031969							
HP:0031970	biolink:PhenotypicFeature	Abnormal blood urea nitrogen concentration	Any deviation from the normal concentration of urea nitrogen in the blood.		hp.json	Abnormal BUN concentration	http://purl.obolibrary.org/obo/HP_0031970							
HP:0031971	biolink:PhenotypicFeature	Subaortic ventricular septal bulge	A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.		hp.json		http://purl.obolibrary.org/obo/HP_0031971							
HP:0031972	biolink:PhenotypicFeature	Presyncope	Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.		hp.json		http://purl.obolibrary.org/obo/HP_0031972							
HP:0031973	biolink:PhenotypicFeature	Increased vertical cup-to-disc ratio	An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.		hp.json		http://purl.obolibrary.org/obo/HP_0031973							
HP:0031974	biolink:PhenotypicFeature	Increased vertical cup-to-disc ratio - 0.6	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).		hp.json		http://purl.obolibrary.org/obo/HP_0031974							
HP:0031975	biolink:PhenotypicFeature	Increased vertical cup-to-disc ratio - 0.7	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).		hp.json		http://purl.obolibrary.org/obo/HP_0031975							
HP:0031976	biolink:PhenotypicFeature	Increased vertical cup-to-disc ratio - 0.8	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).		hp.json		http://purl.obolibrary.org/obo/HP_0031976							
HP:0031977	biolink:PhenotypicFeature	Increased vertical cup-to-disc ratio - 0.9	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).		hp.json		http://purl.obolibrary.org/obo/HP_0031977							
HP:0031978	biolink:PhenotypicFeature	Increased vertical cup-to-disc ratio - 1.0	Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).		hp.json		http://purl.obolibrary.org/obo/HP_0031978							
HP:0031979	biolink:PhenotypicFeature	Abnormal urine carbohydrate level	Any deviation from the normal concentration of a carbohydrate in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031979							
HP:0031980	biolink:PhenotypicFeature	Abnormal urine carboxylic acid level	Any deviation from the normal concentration of a carboxylic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031980							
HP:0031981	biolink:PhenotypicFeature	Elevated urine glycolate	An increased concentration of glycolate in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0031981							
HP:0031982	biolink:PhenotypicFeature	Abnormal putamen morphology	Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.		hp.json		http://purl.obolibrary.org/obo/HP_0031982							
HP:0031983	biolink:PhenotypicFeature	Abnormal pulmonary thoracic imaging finding	This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.		hp.json	Abnormal chest radiograph finding (lung)	http://purl.obolibrary.org/obo/HP_0031983							
HP:0031984	biolink:PhenotypicFeature	Esophageal food impaction	A piece of food that has gotten stuck in the esophagus and prevents further swallowing.		hp.json		http://purl.obolibrary.org/obo/HP_0031984							
HP:0031985	biolink:PhenotypicFeature	Esophageal exudate	An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.		hp.json		http://purl.obolibrary.org/obo/HP_0031985							
HP:0031986	biolink:PhenotypicFeature	Polyminimyoclonus	Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.		hp.json		http://purl.obolibrary.org/obo/HP_0031986							
HP:0031987	biolink:PhenotypicFeature	Diminished ability to concentrate	Being unable to focus one's attention or mental effort on a particular object or activity.		hp.json	Poor concentration|Concentration problems|Lack of concentration	http://purl.obolibrary.org/obo/HP_0031987							
HP:0031988	biolink:PhenotypicFeature	obsolete Muscle spasm			hp.json		http://purl.obolibrary.org/obo/HP_0031988							
HP:0031989	biolink:PhenotypicFeature	Perioral spasm	A sudden involuntary contraction of the musculature surrounding the mouth.		hp.json		http://purl.obolibrary.org/obo/HP_0031989							
HP:0031990	biolink:PhenotypicFeature	Chvostek sign	A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0031990							
HP:0031991	biolink:PhenotypicFeature	Increased urinary excretion of galactosyl hydroxylysine	An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.		hp.json		http://purl.obolibrary.org/obo/HP_0031991							
HP:0031992	biolink:PhenotypicFeature	Apical hypertrophic cardiomyopathy	Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.		hp.json		http://purl.obolibrary.org/obo/HP_0031992							
HP:0031993	biolink:PhenotypicFeature	Hoffmann sign	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.json		http://purl.obolibrary.org/obo/HP_0031993							
HP:0031994	biolink:PhenotypicFeature	Bronchial breath sound	Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.		hp.json		http://purl.obolibrary.org/obo/HP_0031994							
HP:0031995	biolink:PhenotypicFeature	Squawks	Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.		hp.json		http://purl.obolibrary.org/obo/HP_0031995							
HP:0031996	biolink:PhenotypicFeature	Inspiratory crackles	Crackles that are heard during the inspiratory phase.		hp.json		http://purl.obolibrary.org/obo/HP_0031996							
HP:0031997	biolink:PhenotypicFeature	Early inspiratory crackles	Crackles that appear at the beginning of inspiration and end before mid-inspiration.		hp.json		http://purl.obolibrary.org/obo/HP_0031997							
HP:0031998	biolink:PhenotypicFeature	Late inspiratory crackles	Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.		hp.json		http://purl.obolibrary.org/obo/HP_0031998							
HP:0031999	biolink:PhenotypicFeature	Expiratory crackles	Crackles that occur during expiration.		hp.json		http://purl.obolibrary.org/obo/HP_0031999							
HP:0032000	biolink:PhenotypicFeature	Pleural rub	An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles		hp.json		http://purl.obolibrary.org/obo/HP_0032000							
HP:0032001	biolink:PhenotypicFeature	Pink urine	An abnormal pink color of urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032001							
HP:0032002	biolink:PhenotypicFeature	Orange urine	An abnormal orange color of urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032002							
HP:0032003	biolink:PhenotypicFeature	Green urine	An abnormal green color of urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032003							
HP:0032004	biolink:PhenotypicFeature	Pruritus vulvae	A sensation of itching in the vulvar region.		hp.json		http://purl.obolibrary.org/obo/HP_0032004							
HP:0032005	biolink:PhenotypicFeature	Hemidystonia	Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.		hp.json		http://purl.obolibrary.org/obo/HP_0032005							
HP:0032006	biolink:PhenotypicFeature	Lip tremor	An unintentional, oscillating to-and-fro muscle movement affecting the lip.		hp.json		http://purl.obolibrary.org/obo/HP_0032006							
HP:0032007	biolink:PhenotypicFeature	Maceration	A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.		hp.json	Maceration of the skin|Skin maceration	http://purl.obolibrary.org/obo/HP_0032007							
HP:0032008	biolink:PhenotypicFeature	Pulmonary fat embolism	The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.		hp.json	Fat embolism	http://purl.obolibrary.org/obo/HP_0032008							
HP:0032009	biolink:PhenotypicFeature	Infantile constant exotropia	Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.		hp.json	Infantile (constant) exotropia	http://purl.obolibrary.org/obo/HP_0032009							
HP:0032010	biolink:PhenotypicFeature	Basic constant exotropia	Constant exotropia for near and distance, presenting after 6 months of age.		hp.json	Basic (constant) exotropia	http://purl.obolibrary.org/obo/HP_0032010							
HP:0032011	biolink:PhenotypicFeature	Heterophoria	Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.		hp.json		http://purl.obolibrary.org/obo/HP_0032011							
HP:0032012	biolink:PhenotypicFeature	Heterotropia	Manifest deviation of the visual axes not controlled by fusion.		hp.json		http://purl.obolibrary.org/obo/HP_0032012							
HP:0032013	biolink:PhenotypicFeature	Hypermetric horizontal saccades	Overshoot of horizontal (sideways) saccadic eye movements.		hp.json		http://purl.obolibrary.org/obo/HP_0032013							
HP:0032014	biolink:PhenotypicFeature	Dysmetric vertical saccades	Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.		hp.json		http://purl.obolibrary.org/obo/HP_0032014							
HP:0032015	biolink:PhenotypicFeature	Dysmetric horizontal saccades	Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.		hp.json		http://purl.obolibrary.org/obo/HP_0032015							
HP:0032016	biolink:PhenotypicFeature	Abnormal sputum	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.		hp.json	Abnormal sputum morphology	http://purl.obolibrary.org/obo/HP_0032016							
HP:0032017	biolink:PhenotypicFeature	Sputum eosinophilia	An increased proportion of eosinophils in sputum in the differentiated cell count.		hp.json		http://purl.obolibrary.org/obo/HP_0032017							
HP:0032018	biolink:PhenotypicFeature	Multiple mononeuropathy	A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.		hp.json	Mononeuritis multiplex	http://purl.obolibrary.org/obo/HP_0032018							
HP:0032019	biolink:PhenotypicFeature	Muscle eosinophilia	Eosinophil infiltration of skeletal muscle.		hp.json	Eosinophilic infiltration of skeletal muscle	http://purl.obolibrary.org/obo/HP_0032019							
HP:0032020	biolink:PhenotypicFeature	Eosinophilic bladder infiltration	Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.		hp.json	Eosinophilic cystitis	http://purl.obolibrary.org/obo/HP_0032020							
HP:0032021	biolink:PhenotypicFeature	Eosinophilic liver infiltration	Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.		hp.json	Eosinophilic hepatitis	http://purl.obolibrary.org/obo/HP_0032021							
HP:0032022	biolink:PhenotypicFeature	Eosinophilic dermal infiltration	Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.		hp.json	Eosinophilic dermatitis	http://purl.obolibrary.org/obo/HP_0032022							
HP:0032023	biolink:PhenotypicFeature	Eosinophilic gallbladder infiltration	Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.		hp.json	Eosinophilic cholecystitis	http://purl.obolibrary.org/obo/HP_0032023							
HP:0032024	biolink:PhenotypicFeature	Ileal ulcer	An erosion of the mucous membrane in a portion of the ileum.		hp.json		http://purl.obolibrary.org/obo/HP_0032024							
HP:0032025	biolink:PhenotypicFeature	Reduced serum alpha-1-antitrypsin	A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.		hp.json		http://purl.obolibrary.org/obo/HP_0032025							
HP:0032026	biolink:PhenotypicFeature	Anetoderma	Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.		hp.json		http://purl.obolibrary.org/obo/HP_0032026							
HP:0032027	biolink:PhenotypicFeature	Retinal dots	Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.		hp.json		http://purl.obolibrary.org/obo/HP_0032027							
HP:0032028	biolink:PhenotypicFeature	Macular dots	Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.		hp.json		http://purl.obolibrary.org/obo/HP_0032028							
HP:0032029	biolink:PhenotypicFeature	Floppy eyelid	Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.		hp.json		http://purl.obolibrary.org/obo/HP_0032029							
HP:0032030	biolink:PhenotypicFeature	Lateral canthal tendon laxity	Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.		hp.json		http://purl.obolibrary.org/obo/HP_0032030							
HP:0032031	biolink:PhenotypicFeature	Medial canthal tendon laxity	Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.		hp.json		http://purl.obolibrary.org/obo/HP_0032031							
HP:0032032	biolink:PhenotypicFeature	Horizontal eyelid laxity	Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.		hp.json		http://purl.obolibrary.org/obo/HP_0032032							
HP:0032033	biolink:PhenotypicFeature	Vertical eyelid laxity	Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.		hp.json		http://purl.obolibrary.org/obo/HP_0032033							
HP:0032034	biolink:PhenotypicFeature	Upper eyelid laxity	Abnormally lax upper eyelid associated with tissue relaxation.		hp.json		http://purl.obolibrary.org/obo/HP_0032034							
HP:0032035	biolink:PhenotypicFeature	Lower eyelid laxity	Abnormally lax lower eyelid associated with tissue relaxation.		hp.json		http://purl.obolibrary.org/obo/HP_0032035							
HP:0032036	biolink:PhenotypicFeature	Abnormal contrast sensitivity	An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.		hp.json		http://purl.obolibrary.org/obo/HP_0032036							
HP:0032037	biolink:PhenotypicFeature	Mildly reduced visual acuity	Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).		hp.json	Mild reduction in visual acuity|Mild vision loss|Mild visual loss	http://purl.obolibrary.org/obo/HP_0032037							
HP:0032039	biolink:PhenotypicFeature	Abnormality of the ocular adnexa	An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.		hp.json		http://purl.obolibrary.org/obo/HP_0032039							
HP:0032040	biolink:PhenotypicFeature	Abnormal ocular adnexa physiology	A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.		hp.json		http://purl.obolibrary.org/obo/HP_0032040							
HP:0032041	biolink:PhenotypicFeature	Vocal cord polyp	A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.		hp.json		http://purl.obolibrary.org/obo/HP_0032041							
HP:0032043	biolink:PhenotypicFeature	Odynophagia	Pain experienced with swallowing.		hp.json	Painful swallowing	http://purl.obolibrary.org/obo/HP_0032043							
HP:0032044	biolink:PhenotypicFeature	Decreased vigilance	A reduction in the ability to maintain sustained attention characterized by reduced alertness.		hp.json		http://purl.obolibrary.org/obo/HP_0032044							
HP:0032045	biolink:PhenotypicFeature	Hypoplastic carotid canal	Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.		hp.json		http://purl.obolibrary.org/obo/HP_0032045							
HP:0032046	biolink:PhenotypicFeature	Focal cortical dysplasia	A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.		hp.json		http://purl.obolibrary.org/obo/HP_0032046							
HP:0032047	biolink:PhenotypicFeature	Focal cortical dysplasia type I	A type of focal cortical dysplasia that is characterized by abnormal cortical layering.		hp.json		http://purl.obolibrary.org/obo/HP_0032047							
HP:0032048	biolink:PhenotypicFeature	Focal cortical dysplasia type Ia	A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.		hp.json		http://purl.obolibrary.org/obo/HP_0032048							
HP:0032049	biolink:PhenotypicFeature	Focal cortical dysplasia type Ib	A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.		hp.json		http://purl.obolibrary.org/obo/HP_0032049							
HP:0032050	biolink:PhenotypicFeature	Focal cortical dysplasia type Ic	A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.		hp.json		http://purl.obolibrary.org/obo/HP_0032050							
HP:0032051	biolink:PhenotypicFeature	Focal cortical dysplasia type II	A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.		hp.json		http://purl.obolibrary.org/obo/HP_0032051							
HP:0032052	biolink:PhenotypicFeature	Focal cortical dysplasia type IIa	A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.		hp.json		http://purl.obolibrary.org/obo/HP_0032052							
HP:0032053	biolink:PhenotypicFeature	Focal cortical dysplasia type IIb	A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032053							
HP:0032054	biolink:PhenotypicFeature	Focal cortical dysplasia type III	A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.		hp.json		http://purl.obolibrary.org/obo/HP_0032054							
HP:0032055	biolink:PhenotypicFeature	Focal cortical dysplasia type IIIa	A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).		hp.json		http://purl.obolibrary.org/obo/HP_0032055							
HP:0032056	biolink:PhenotypicFeature	Focal cortical dysplasia type IIIb	A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.		hp.json		http://purl.obolibrary.org/obo/HP_0032056							
HP:0032057	biolink:PhenotypicFeature	Focal cortical dysplasia type IIIc	A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).		hp.json		http://purl.obolibrary.org/obo/HP_0032057							
HP:0032058	biolink:PhenotypicFeature	Focal cortical dysplasia type IIId	A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.		hp.json		http://purl.obolibrary.org/obo/HP_0032058							
HP:0032059	biolink:PhenotypicFeature	Mild malformation of cortical development	A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.		hp.json		http://purl.obolibrary.org/obo/HP_0032059							
HP:0032060	biolink:PhenotypicFeature	Epithelioid hemangioma	A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.		hp.json	Angiolymphoid hyperplasia with eosinophilia	http://purl.obolibrary.org/obo/HP_0032060							
HP:0032061	biolink:PhenotypicFeature	Hypereosinophilia	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.json		http://purl.obolibrary.org/obo/HP_0032061							
HP:0032062	biolink:PhenotypicFeature	Mallory-Weiss tear	Vomiting-induced mucosal laceration at the esophago-gastric junction.		hp.json		http://purl.obolibrary.org/obo/HP_0032062							
HP:0032063	biolink:PhenotypicFeature	Ankle joint effusion	Abnormal accumulation of fluid in or around the ankle joint.		hp.json		http://purl.obolibrary.org/obo/HP_0032063							
HP:0032064	biolink:PhenotypicFeature	Gastrointestinal eosinophilia	Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.		hp.json	GI eosinophilia|Eosinophilic enteritis|Eosinophilic gastroenteritis|Eosinophilic gastrointestinal disease|Eosinophilic gastrointestinal disorders	http://purl.obolibrary.org/obo/HP_0032064							
HP:0032065	biolink:PhenotypicFeature	Abnormal serum bicarbonate concentration	Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.		hp.json	Abnormal serum HCO3 concentration	http://purl.obolibrary.org/obo/HP_0032065							
HP:0032066	biolink:PhenotypicFeature	Decreased serum bicarbonate concentration	An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.		hp.json	Decreased serum HCO3 concentration	http://purl.obolibrary.org/obo/HP_0032066							
HP:0032067	biolink:PhenotypicFeature	Elevated serum bicarbonate concentration	An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.		hp.json	Elevated serum HCO3 concentration	http://purl.obolibrary.org/obo/HP_0032067							
HP:0032068	biolink:PhenotypicFeature	Increased urinary mucus	An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.		hp.json		http://purl.obolibrary.org/obo/HP_0032068							
HP:0032069	biolink:PhenotypicFeature	Anti-thyroglobulin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.		hp.json		http://purl.obolibrary.org/obo/HP_0032069							
HP:0032070	biolink:PhenotypicFeature	Leptomeningeal enhancement	Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.		hp.json		http://purl.obolibrary.org/obo/HP_0032070							
HP:0032071	biolink:PhenotypicFeature	Eosinophilic pneumonia	The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.		hp.json	Eosinophilic pulmonary infiltration|Pulmonary eosinophilic infiltrate|Pulmonary eosinophilic infiltration|Pulmonary eosinophilia	http://purl.obolibrary.org/obo/HP_0032071							
HP:0032072	biolink:PhenotypicFeature	Popliteal synovial cyst	A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.		hp.json	Baker's cyst	http://purl.obolibrary.org/obo/HP_0032072							
HP:0032073	biolink:PhenotypicFeature	Aplasia of the fallopian tube	Aplasia, that is failure to develop, of the fallopian tube.		hp.json		http://purl.obolibrary.org/obo/HP_0032073							
HP:0032075	biolink:PhenotypicFeature	Splenopancreatic fusion	Fusion of the pancreatic tail and spleen.		hp.json		http://purl.obolibrary.org/obo/HP_0032075							
HP:0032076	biolink:PhenotypicFeature	Abnormal male urethral meatus morphology			hp.json		http://purl.obolibrary.org/obo/HP_0032076							
HP:0032077	biolink:PhenotypicFeature	Male urethral meatus stenosis	An abnormal narrowing of the urethral opening (meatus) of the penis.		hp.json	Meatal stenosis|Meatus stenosis	http://purl.obolibrary.org/obo/HP_0032077							
HP:0032078	biolink:PhenotypicFeature	Angel-shaped phalanx	A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).		hp.json		http://purl.obolibrary.org/obo/HP_0032078							
HP:0032079	biolink:PhenotypicFeature	Medial degeneration	Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.		hp.json		http://purl.obolibrary.org/obo/HP_0032079							
HP:0032081	biolink:PhenotypicFeature	Intralamellar mucoid extracellular matrix accumulation	A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.		hp.json		http://purl.obolibrary.org/obo/HP_0032081							
HP:0032082	biolink:PhenotypicFeature	Translamellar mucoid extracellular matrix accumulation	A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.		hp.json		http://purl.obolibrary.org/obo/HP_0032082							
HP:0032083	biolink:PhenotypicFeature	Aortic elastic fiber fragmentation	Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.		hp.json	Aortic elastic fibre fragmentation	http://purl.obolibrary.org/obo/HP_0032083							
HP:0032084	biolink:PhenotypicFeature	Aortic elastic fiber thinning	A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.		hp.json	Aortic elastic fibre thinning	http://purl.obolibrary.org/obo/HP_0032084							
HP:0032085	biolink:PhenotypicFeature	Aortic elastic fiber disorganization	Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.		hp.json	Aortic elastic fibre disorganisation	http://purl.obolibrary.org/obo/HP_0032085							
HP:0032086	biolink:PhenotypicFeature	Aortic smooth muscle cell nuclei loss	A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.		hp.json		http://purl.obolibrary.org/obo/HP_0032086							
HP:0032087	biolink:PhenotypicFeature	Aortic laminar medial collapse	Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.		hp.json		http://purl.obolibrary.org/obo/HP_0032087							
HP:0032088	biolink:PhenotypicFeature	Aortic smooth muscle cell disorganization	Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.		hp.json	Aortic smooth muscle cell disorganisation	http://purl.obolibrary.org/obo/HP_0032088							
HP:0032089	biolink:PhenotypicFeature	Aortic medial fibrosis	An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).		hp.json		http://purl.obolibrary.org/obo/HP_0032089							
HP:0032090	biolink:PhenotypicFeature	Intralamellar aortic medial fibrosis	A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.		hp.json		http://purl.obolibrary.org/obo/HP_0032090							
HP:0032091	biolink:PhenotypicFeature	Translamellar aortic medial fibrosis	A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.		hp.json		http://purl.obolibrary.org/obo/HP_0032091							
HP:0032092	biolink:PhenotypicFeature	Left ventricular outflow tract obstruction	Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0032092							
HP:0032094	biolink:PhenotypicFeature	Increased circulating surfactant protein level	An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.		hp.json	Increased serum surfactant protein level	http://purl.obolibrary.org/obo/HP_0032094							
HP:0032096	biolink:PhenotypicFeature	Abnormal manganese concentration	A deviation from the normal range of manganese in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032096							
HP:0032097	biolink:PhenotypicFeature	Hypermanganesemia	An elevation above the normal concentration of manganese in the blood.		hp.json	Increased blood manganese concentration	http://purl.obolibrary.org/obo/HP_0032097							
HP:0032098	biolink:PhenotypicFeature	Hypomanganesemia	A reduction below the normal concentration of manganese in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032098							
HP:0032099	biolink:PhenotypicFeature	Perioral radial furrowing	The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).		hp.json		http://purl.obolibrary.org/obo/HP_0032099							
HP:0032100	biolink:PhenotypicFeature	Abnormal doll's eye reflex	The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.		hp.json		http://purl.obolibrary.org/obo/HP_0032100							
HP:0032101	biolink:PhenotypicFeature	Unusual infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.		hp.json		http://purl.obolibrary.org/obo/HP_0032101							
HP:0032102	biolink:PhenotypicFeature	Wilson sign	Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.		hp.json		http://purl.obolibrary.org/obo/HP_0032102							
HP:0032104	biolink:PhenotypicFeature	Saccadic oscillation	An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.		hp.json	Saccadic oscillations	http://purl.obolibrary.org/obo/HP_0032104							
HP:0032105	biolink:PhenotypicFeature	Macrosaccadic oscillations	A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.		hp.json	Macrosaccadic oscillation	http://purl.obolibrary.org/obo/HP_0032105							
HP:0032106	biolink:PhenotypicFeature	Conjunctival icterus	Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.		hp.json	Yellowing of the whites of the eyes|Scleral icterus|Yellow conjunctiva|Yellow sclera	http://purl.obolibrary.org/obo/HP_0032106							
HP:0032107	biolink:PhenotypicFeature	Limbal stem cell deficiency	A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.		hp.json		http://purl.obolibrary.org/obo/HP_0032107							
HP:0032108	biolink:PhenotypicFeature	Mildly reduced contrast sensitivity	A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.		hp.json	Mild reduction in contrast sensitivity	http://purl.obolibrary.org/obo/HP_0032108							
HP:0032109	biolink:PhenotypicFeature	Moderately reduced contrast sensitivity	A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.		hp.json	Moderate reduction in contrast sensitivity	http://purl.obolibrary.org/obo/HP_0032109							
HP:0032110	biolink:PhenotypicFeature	Severely reduced contrast sensitivity	A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.		hp.json		http://purl.obolibrary.org/obo/HP_0032110							
HP:0032111	biolink:PhenotypicFeature	Abnormal Vistech contrast sensitivity test	An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.		hp.json		http://purl.obolibrary.org/obo/HP_0032111							
HP:0032112	biolink:PhenotypicFeature	Abnormal Pelli Robson contrast sensitivity chart test	An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.		hp.json		http://purl.obolibrary.org/obo/HP_0032112							
HP:0032113	biolink:PhenotypicFeature	Semidominant mode of inheritance	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.json		http://purl.obolibrary.org/obo/HP_0032113							
HP:0032114	biolink:PhenotypicFeature	Saccadic intrusion	An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.		hp.json		http://purl.obolibrary.org/obo/HP_0032114							
HP:0032116	biolink:PhenotypicFeature	Macrosquare-wave jerks	Horizontal 10-40 degree excursions from fixation and back again.		hp.json		http://purl.obolibrary.org/obo/HP_0032116							
HP:0032117	biolink:PhenotypicFeature	obsolete Macrosaccadic oscillation			hp.json		http://purl.obolibrary.org/obo/HP_0032117							
HP:0032118	biolink:PhenotypicFeature	Retinitis	Inflammation of the retina of the eye.		hp.json		http://purl.obolibrary.org/obo/HP_0032118							
HP:0032119	biolink:PhenotypicFeature	Narrow angle glaucoma	A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.		hp.json		http://purl.obolibrary.org/obo/HP_0032119							
HP:0032120	biolink:PhenotypicFeature	Abnormal peripheral nervous system physiology	Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.		hp.json		http://purl.obolibrary.org/obo/HP_0032120							
HP:0032121	biolink:PhenotypicFeature	Froment sign	An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.		hp.json	Froment thumb sign	http://purl.obolibrary.org/obo/HP_0032121							
HP:0032122	biolink:PhenotypicFeature	Very low visual acuity	A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).		hp.json		http://purl.obolibrary.org/obo/HP_0032122							
HP:0032123	biolink:PhenotypicFeature	Ultra-low vision	Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).		hp.json		http://purl.obolibrary.org/obo/HP_0032123							
HP:0032124	biolink:PhenotypicFeature	Abnormal proportion of unswitched memory B cells	A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.		hp.json	Abnormal proportion of non-class-switched memory B cells	http://purl.obolibrary.org/obo/HP_0032124							
HP:0032125	biolink:PhenotypicFeature	Increased proportion of unswitched memory B cells	An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.		hp.json	Elevated proportion of unswitched memory B cells|Increased proportion of non-class-switched memory B cells	http://purl.obolibrary.org/obo/HP_0032125							
HP:0032126	biolink:PhenotypicFeature	Decreased proportion of unswitched memory B cells	A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.		hp.json	Decreased proportion of non-class-switched memory B cells|Reduced proportion of unswitched memory B cells	http://purl.obolibrary.org/obo/HP_0032126							
HP:0032127	biolink:PhenotypicFeature	Abnormal plasmablast proportion	A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0032127							
HP:0032128	biolink:PhenotypicFeature	Increased proportion of plasmablasts	An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032128							
HP:0032129	biolink:PhenotypicFeature	Decreased proportion of plasmablasts	A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032129							
HP:0032130	biolink:PhenotypicFeature	Mycobacterium abscessus abscessus infection	Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.		hp.json		http://purl.obolibrary.org/obo/HP_0032130							
HP:0032131	biolink:PhenotypicFeature	Cervical dysplasia	Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.		hp.json		http://purl.obolibrary.org/obo/HP_0032131							
HP:0032132	biolink:PhenotypicFeature	Decreased circulating total IgG	A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032132							
HP:0032133	biolink:PhenotypicFeature	Transient decreased circulating total IgG	A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032133							
HP:0032134	biolink:PhenotypicFeature	Chronic decreased circulating total IgG	A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.		hp.json	Chronic decreased total IgG in blood	http://purl.obolibrary.org/obo/HP_0032134							
HP:0032135	biolink:PhenotypicFeature	Decreased circulating IgG subclass level	A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.		hp.json	Decreased IgG subclass level in blood	http://purl.obolibrary.org/obo/HP_0032135							
HP:0032136	biolink:PhenotypicFeature	Decreased circulating IgG1 level	A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.		hp.json	Decreased IgG1 level in blood	http://purl.obolibrary.org/obo/HP_0032136							
HP:0032137	biolink:PhenotypicFeature	Decreased circulating IgG3 level	A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.		hp.json	Decreased IgG3 level in blood	http://purl.obolibrary.org/obo/HP_0032137							
HP:0032138	biolink:PhenotypicFeature	Decreased circulating IgG4 level	A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.		hp.json	Decreased IgG4 level in blood	http://purl.obolibrary.org/obo/HP_0032138							
HP:0032139	biolink:PhenotypicFeature	Reduced isohemagglutinin level	Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).		hp.json	Decreased natural antibody to blood group agents|Partial absence of isohemagglutinins	http://purl.obolibrary.org/obo/HP_0032139							
HP:0032140	biolink:PhenotypicFeature	Decreased specific antibody response to vaccination	A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0032140							
HP:0032141	biolink:PhenotypicFeature	Precordial pain	A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.		hp.json		http://purl.obolibrary.org/obo/HP_0032141							
HP:0032142	biolink:PhenotypicFeature	Fetor hepaticus	Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.		hp.json	Foetor hepaticus	http://purl.obolibrary.org/obo/HP_0032142							
HP:0032143	biolink:PhenotypicFeature	Burning mouth	An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.		hp.json		http://purl.obolibrary.org/obo/HP_0032143							
HP:0032144	biolink:PhenotypicFeature	Coffee ground vomitus	Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.		hp.json	Coffee grounds emesis|Coffee grounds vomiting	http://purl.obolibrary.org/obo/HP_0032144							
HP:0032145	biolink:PhenotypicFeature	Sural nerve atrophy	Wasting of the sural nerve, a sensory nerve in the calf region of the leg.		hp.json	Atrophy of sural nerve	http://purl.obolibrary.org/obo/HP_0032145							
HP:0032146	biolink:PhenotypicFeature	HbC hemoglobin	Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.		hp.json	Haemoglobin C|HbC haemoglobin|Hemoglobin C	http://purl.obolibrary.org/obo/HP_0032146							
HP:0032147	biolink:PhenotypicFeature	Erythromelalgia	Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.		hp.json		http://purl.obolibrary.org/obo/HP_0032147							
HP:0032148	biolink:PhenotypicFeature	Episodic pain	Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.		hp.json		http://purl.obolibrary.org/obo/HP_0032148							
HP:0032149	biolink:PhenotypicFeature	Breakthrough pain	A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.		hp.json		http://purl.obolibrary.org/obo/HP_0032149							
HP:0032150	biolink:PhenotypicFeature	Paroxysmal rectal pain	Excruciating burning pain in the rectal area that may be triggered by defecation.		hp.json		http://purl.obolibrary.org/obo/HP_0032150							
HP:0032151	biolink:PhenotypicFeature	Episodic eosinophilia	Recurrent episodes of marked eosinophilia that resolve spontaneously.		hp.json		http://purl.obolibrary.org/obo/HP_0032151							
HP:0032152	biolink:PhenotypicFeature	Keratosis pilaris	An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.		hp.json	Chicken skin|Carpet tack sign|Follicular keratosis|Follicular keratotic plug|Follicular plugging|Hyperkeratosis pilaris|Lichen pilaris	http://purl.obolibrary.org/obo/HP_0032152							
HP:0032153	biolink:PhenotypicFeature	Joint subluxation	A partial dislocation of a joint.		hp.json		http://purl.obolibrary.org/obo/HP_0032153							
HP:0032154	biolink:PhenotypicFeature	Aphthous ulcer	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.		hp.json	Canker sore	http://purl.obolibrary.org/obo/HP_0032154							
HP:0032155	biolink:PhenotypicFeature	Abdominal cramps	A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.		hp.json		http://purl.obolibrary.org/obo/HP_0032155							
HP:0032156	biolink:PhenotypicFeature	Skin detachment	Loss of sections of skin either spontaneously or after gentle handling.		hp.json	Detached skin|Epidermal detachment|Skin sloughing	http://purl.obolibrary.org/obo/HP_0032156							
HP:0032157	biolink:PhenotypicFeature	Recurrent genital herpes	Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.		hp.json		http://purl.obolibrary.org/obo/HP_0032157							
HP:0032158	biolink:PhenotypicFeature	Unusual infection by anatomical site	An unusual infection classified by the affected body part.		hp.json		http://purl.obolibrary.org/obo/HP_0032158							
HP:0032159	biolink:PhenotypicFeature	Fungal meningitis	An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.		hp.json		http://purl.obolibrary.org/obo/HP_0032159							
HP:0032160	biolink:PhenotypicFeature	Cryptococcal meningitis	A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.		hp.json		http://purl.obolibrary.org/obo/HP_0032160							
HP:0032161	biolink:PhenotypicFeature	Coccidioidal meningitis	A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.		hp.json		http://purl.obolibrary.org/obo/HP_0032161							
HP:0032162	biolink:PhenotypicFeature	Unusual skin infection	A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.		hp.json		http://purl.obolibrary.org/obo/HP_0032162							
HP:0032163	biolink:PhenotypicFeature	Molluscum contagiosum	Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.		hp.json		http://purl.obolibrary.org/obo/HP_0032163							
HP:0032164	biolink:PhenotypicFeature	Increased blood folate concentration	An elevated circulating concentration of folic acid, which is also known as vitamin B9.		hp.json		http://purl.obolibrary.org/obo/HP_0032164							
HP:0032165	biolink:PhenotypicFeature	Placental mesenchymal dysplasia	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.json		http://purl.obolibrary.org/obo/HP_0032165							
HP:0032166	biolink:PhenotypicFeature	Unusual gastrointestinal infection			hp.json	Unusual GI infection	http://purl.obolibrary.org/obo/HP_0032166							
HP:0032167	biolink:PhenotypicFeature	Clostridium difficile enteritis	An infection of the small intestine (enteritis) by clostridium difficile.		hp.json	C. difficile enteritis	http://purl.obolibrary.org/obo/HP_0032167							
HP:0032168	biolink:PhenotypicFeature	Clostridium difficile colitis	An infection of the colon (colitis) by clostridium difficile.		hp.json		http://purl.obolibrary.org/obo/HP_0032168							
HP:0032169	biolink:PhenotypicFeature	Severe infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.		hp.json	Unusual course of infection	http://purl.obolibrary.org/obo/HP_0032169							
HP:0032170	biolink:PhenotypicFeature	Severe varicella zoster infection	An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.		hp.json		http://purl.obolibrary.org/obo/HP_0032170							
HP:0032171	biolink:PhenotypicFeature	Bladder pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.		hp.json		http://purl.obolibrary.org/obo/HP_0032171							
HP:0032172	biolink:PhenotypicFeature	Air crescent sign	A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.		hp.json		http://purl.obolibrary.org/obo/HP_0032172							
HP:0032173	biolink:PhenotypicFeature	Continuous diaphragm sign	This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.		hp.json		http://purl.obolibrary.org/obo/HP_0032173							
HP:0032174	biolink:PhenotypicFeature	Tree-in-bud pattern	The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).		hp.json		http://purl.obolibrary.org/obo/HP_0032174							
HP:0032175	biolink:PhenotypicFeature	Signet ring sign	This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.		hp.json		http://purl.obolibrary.org/obo/HP_0032175							
HP:0032176	biolink:PhenotypicFeature	Apical pulmonary opacity	An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.		hp.json	Apical cap|Apical pleural thickening	http://purl.obolibrary.org/obo/HP_0032176							
HP:0032177	biolink:PhenotypicFeature	Parenchymal consolidation	Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).		hp.json		http://purl.obolibrary.org/obo/HP_0032177							
HP:0032178	biolink:PhenotypicFeature	Flaky paint dermatosis	A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).		hp.json	Flaky paint skin appearance	http://purl.obolibrary.org/obo/HP_0032178							
HP:0032179	biolink:PhenotypicFeature	Abnormal circulating globulin level	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.json		http://purl.obolibrary.org/obo/HP_0032179							
HP:0032180	biolink:PhenotypicFeature	Abnormal circulating metabolite concentration	An abnormal level of an analyte measured in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032180							
HP:0032181	biolink:PhenotypicFeature	Anomalous hepatic venous drainage into the left atrium	An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.		hp.json		http://purl.obolibrary.org/obo/HP_0032181							
HP:0032182	biolink:PhenotypicFeature	Abnormal proportion of memory T cells	An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.		hp.json	Abnormal proportion of CD4+CD29+ cells	http://purl.obolibrary.org/obo/HP_0032182							
HP:0032183	biolink:PhenotypicFeature	Decreased proportion of memory T cells	An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.		hp.json	Decreased proportion of CD4+CD29+ cells	http://purl.obolibrary.org/obo/HP_0032183							
HP:0032184	biolink:PhenotypicFeature	Increased proportion of memory T cells	An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.		hp.json	Increased proportion of CD4+CD29+ cells	http://purl.obolibrary.org/obo/HP_0032184							
HP:0032185	biolink:PhenotypicFeature	Disseminated molluscum contagiosum	The presense of molluscum contagiosum lesions across multiple areas of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0032185							
HP:0032186	biolink:PhenotypicFeature	Anal neoplasm	A benign or malignant neoplasm that affects the anal canal or anal margin.		hp.json		http://purl.obolibrary.org/obo/HP_0032186							
HP:0032187	biolink:PhenotypicFeature	Anal intraepithelial neoplasia	Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.		hp.json		http://purl.obolibrary.org/obo/HP_0032187							
HP:0032188	biolink:PhenotypicFeature	Cellular hypersensitivity to mitomycin C	An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.		hp.json		http://purl.obolibrary.org/obo/HP_0032188							
HP:0032189	biolink:PhenotypicFeature	Cellular hypersensitivity to diepoxybutane	An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.		hp.json		http://purl.obolibrary.org/obo/HP_0032189							
HP:0032190	biolink:PhenotypicFeature	Abnormal meniscus morphology	Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.		hp.json		http://purl.obolibrary.org/obo/HP_0032190							
HP:0032191	biolink:PhenotypicFeature	Torn meniscus	A tear in the cartilaginous pad (meniscus) of the knee.		hp.json		http://purl.obolibrary.org/obo/HP_0032191							
HP:0032192	biolink:PhenotypicFeature	Hydatidiform mole	Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.		hp.json		http://purl.obolibrary.org/obo/HP_0032192							
HP:0032193	biolink:PhenotypicFeature	Decreased low-density lipoprotein particle size	An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032193							
HP:0032195	biolink:PhenotypicFeature	Abnormal S wave	Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.		hp.json		http://purl.obolibrary.org/obo/HP_0032195							
HP:0032196	biolink:PhenotypicFeature	Prominent S wave in lead I	Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.		hp.json		http://purl.obolibrary.org/obo/HP_0032196							
HP:0032197	biolink:PhenotypicFeature	Deep S wave in lead V5	Abnormal depth of the S wave in lead V5 of the electrocardiogram.		hp.json		http://purl.obolibrary.org/obo/HP_0032197							
HP:0032198	biolink:PhenotypicFeature	Decreased prothrombin time	Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.		hp.json	Decreased INR|Decreased PT|Decreased international normalised ratio|Decreased international normalized ratio	http://purl.obolibrary.org/obo/HP_0032198							
HP:0032199	biolink:PhenotypicFeature	Abnormal prothrombin time	Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.		hp.json	Abnormal PT	http://purl.obolibrary.org/obo/HP_0032199							
HP:0032200	biolink:PhenotypicFeature	Perivascular fibrosis	The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.		hp.json		http://purl.obolibrary.org/obo/HP_0032200							
HP:0032201	biolink:PhenotypicFeature	Rotator cuff tear	The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.		hp.json		http://purl.obolibrary.org/obo/HP_0032201							
HP:0032202	biolink:PhenotypicFeature	Vulvar intraepithelial neoplasia	Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.		hp.json		http://purl.obolibrary.org/obo/HP_0032202							
HP:0032203	biolink:PhenotypicFeature	Lymphoid nodular hyperplasia	Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).		hp.json	Lymphonodular hyperplasia of the colon	http://purl.obolibrary.org/obo/HP_0032203							
HP:0032204	biolink:PhenotypicFeature	Chronic active Epstein-Barr virus infection	Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.		hp.json		http://purl.obolibrary.org/obo/HP_0032204							
HP:0032205	biolink:PhenotypicFeature	Increased circulating galectin-3 level	An increased circulation of galectin-3 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032205							
HP:0032207	biolink:PhenotypicFeature	Abnormal cerebrospinal fluid metabolite concentration	Any deviation from the normal concentration of a metabolite in cerebrospinal fluid.		hp.json	Abnormal CSF metabolite concentration	http://purl.obolibrary.org/obo/HP_0032207							
HP:0032208	biolink:PhenotypicFeature	Increased urinary type 1 collagen N-terminal telopeptide level	An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.		hp.json	Increased urine NTx level|Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine	http://purl.obolibrary.org/obo/HP_0032208							
HP:0032209	biolink:PhenotypicFeature	Abnormal circulating free T3 level	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.json	Abnormal circulating free T3 concentration|Abnormal circulating free triiodotyronine concentration	http://purl.obolibrary.org/obo/HP_0032209							
HP:0032210	biolink:PhenotypicFeature	Decreased circulating free T3	A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.		hp.json	Decreased circulating free triiodothyronine	http://purl.obolibrary.org/obo/HP_0032210							
HP:0032211	biolink:PhenotypicFeature	Increased urinary epithelial cell count	An increased number of epithelial cells per high-power field in urinanalysis.		hp.json		http://purl.obolibrary.org/obo/HP_0032211							
HP:0032212	biolink:PhenotypicFeature	Increased urinary squamous epithelial cell count	An increased number of squamous epithelial cells per high-power field in urinanalysis.		hp.json		http://purl.obolibrary.org/obo/HP_0032212							
HP:0032213	biolink:PhenotypicFeature	Increased urinary renal tubular epithelial cell count	An increased number of renal tubular epithelial cells per high-power field in urinanalysis.		hp.json		http://purl.obolibrary.org/obo/HP_0032213							
HP:0032214	biolink:PhenotypicFeature	Increased urinary transitional epithelial cell count	An increased number of transitional epithelial cells per high-power field in urinanalysis.		hp.json		http://purl.obolibrary.org/obo/HP_0032214							
HP:0032215	biolink:PhenotypicFeature	Disseminated cutaneous warts	Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.		hp.json		http://purl.obolibrary.org/obo/HP_0032215							
HP:0032216	biolink:PhenotypicFeature	Lymphocytic infiltration of the colorectal mucosa	Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0032216							
HP:0032217	biolink:PhenotypicFeature	Indurated nodule	A skin nodule that is unusually hard (indurated).		hp.json		http://purl.obolibrary.org/obo/HP_0032217							
HP:0032218	biolink:PhenotypicFeature	Decreased proportion of CD4-positive T cells	A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.		hp.json	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							
HP:0032219	biolink:PhenotypicFeature	Increased proportion of CD4-positive T cells	An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.		hp.json	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							
HP:0032220	biolink:PhenotypicFeature	Interface hepatitis	Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.		hp.json		http://purl.obolibrary.org/obo/HP_0032220							
HP:0032221	biolink:PhenotypicFeature	Periportal emperipolesis	The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.		hp.json		http://purl.obolibrary.org/obo/HP_0032221							
HP:0032222	biolink:PhenotypicFeature	Serrated intestinal polyps	The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.		hp.json	Serrated polyposis	http://purl.obolibrary.org/obo/HP_0032222							
HP:0032223	biolink:PhenotypicFeature	Blood group	Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.		hp.json		http://purl.obolibrary.org/obo/HP_0032223							
HP:0032224	biolink:PhenotypicFeature	ABO blood group	The ABO system consists of A and B antigens and antibodies against these antigens.		hp.json		http://purl.obolibrary.org/obo/HP_0032224							
HP:0032225	biolink:PhenotypicFeature	Perifollicular fibroma	Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.		hp.json		http://purl.obolibrary.org/obo/HP_0032225							
HP:0032226	biolink:PhenotypicFeature	Abnormal sebaceous gland morphology	Any structural anomaly of the sebaceous glands.		hp.json		http://purl.obolibrary.org/obo/HP_0032226							
HP:0032227	biolink:PhenotypicFeature	Sebaceous hyperplasia	A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.		hp.json		http://purl.obolibrary.org/obo/HP_0032227							
HP:0032228	biolink:PhenotypicFeature	Trichodiscoma	A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.		hp.json		http://purl.obolibrary.org/obo/HP_0032228							
HP:0032229	biolink:PhenotypicFeature	Perinuclear antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.		hp.json	p-ANCA positivity	http://purl.obolibrary.org/obo/HP_0032229							
HP:0032230	biolink:PhenotypicFeature	Cytoplasmic antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.		hp.json		http://purl.obolibrary.org/obo/HP_0032230							
HP:0032231	biolink:PhenotypicFeature	Hypochromia	A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032231							
HP:0032232	biolink:PhenotypicFeature	Increased circulating creatine kinase MB isoform	An increased concentration of the MB isoform of creatine kinase in the blood circulation.		hp.json	Increased circulating CK MB isoform	http://purl.obolibrary.org/obo/HP_0032232							
HP:0032233	biolink:PhenotypicFeature	Increased circulating creatine kinase BB isoform	An increased concentration of the BB isoform of creatine kinase in the blood circulation.		hp.json	Increased circulating CK BB isoform	http://purl.obolibrary.org/obo/HP_0032233							
HP:0032234	biolink:PhenotypicFeature	Increased circulating creatine kinase MM isoform	An increased concentration of the MM isoform of creatine kinase in the blood circulation.		hp.json	Increased circulating CK MM isoform	http://purl.obolibrary.org/obo/HP_0032234							
HP:0032235	biolink:PhenotypicFeature	Anti-La/SS-B antibody positivity	The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.		hp.json		http://purl.obolibrary.org/obo/HP_0032235							
HP:0032236	biolink:PhenotypicFeature	Increased circulating immature neutrophil count	An abnormally increased number of immature neutrophils in the peripheral blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032236							
HP:0032237	biolink:PhenotypicFeature	Increased circulating myelocyte count	An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.		hp.json		http://purl.obolibrary.org/obo/HP_0032237							
HP:0032238	biolink:PhenotypicFeature	Increased circulating metamyelocyte count	An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.		hp.json		http://purl.obolibrary.org/obo/HP_0032238							
HP:0032239	biolink:PhenotypicFeature	Increased circulating band cell count	An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2.		hp.json	Increased circulating band form neutrophils|Left shift	http://purl.obolibrary.org/obo/HP_0032239							
HP:0032240	biolink:PhenotypicFeature	Elevated circulating E selectin level	An increased concentration of E selectin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032240							
HP:0032241	biolink:PhenotypicFeature	Cervical neoplasm	A tumor (abnormal growth of tissue) of the uterine cervix.		hp.json		http://purl.obolibrary.org/obo/HP_0032241							
HP:0032242	biolink:PhenotypicFeature	Cervical intraepithelial neoplasia	A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.		hp.json		http://purl.obolibrary.org/obo/HP_0032242							
HP:0032243	biolink:PhenotypicFeature	Abnormal tissue metabolite concentration	Any deviation from the normal concentration of a metabolite in a tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0032243							
HP:0032244	biolink:PhenotypicFeature	Decreased serum thromboxane B2	A reduction in the concentration of thromboxane B2 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032244							
HP:0032245	biolink:PhenotypicFeature	Abnormal metabolism	An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.		hp.json		http://purl.obolibrary.org/obo/HP_0032245							
HP:0032247	biolink:PhenotypicFeature	Persistent CMV viremia	Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032247							
HP:0032248	biolink:PhenotypicFeature	Persistent viremia	Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.		hp.json		http://purl.obolibrary.org/obo/HP_0032248							
HP:0032249	biolink:PhenotypicFeature	Coccidioidomycosis	Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.		hp.json	Valley fever	http://purl.obolibrary.org/obo/HP_0032249							
HP:0032250	biolink:PhenotypicFeature	Acinetobacter infection	An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.		hp.json		http://purl.obolibrary.org/obo/HP_0032250							
HP:0032251	biolink:PhenotypicFeature	Abnormal immune system morphology			hp.json		http://purl.obolibrary.org/obo/HP_0032251							
HP:0032252	biolink:PhenotypicFeature	Granuloma	A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.		hp.json		http://purl.obolibrary.org/obo/HP_0032252							
HP:0032253	biolink:PhenotypicFeature	Eosinophilic granuloma	A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.		hp.json		http://purl.obolibrary.org/obo/HP_0032253							
HP:0032254	biolink:PhenotypicFeature	Increased circulating copper concentration	An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.		hp.json	Elevated serum copper|Hypercupremia	http://purl.obolibrary.org/obo/HP_0032254							
HP:0032255	biolink:PhenotypicFeature	Opportunistic fungal infection	An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.		hp.json		http://purl.obolibrary.org/obo/HP_0032255							
HP:0032256	biolink:PhenotypicFeature	Histoplasmosis	Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.		hp.json		http://purl.obolibrary.org/obo/HP_0032256							
HP:0032257	biolink:PhenotypicFeature	Disseminated histoplasmosis	Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.		hp.json		http://purl.obolibrary.org/obo/HP_0032257							
HP:0032258	biolink:PhenotypicFeature	Pulmonary histoplasmosis	Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.		hp.json		http://purl.obolibrary.org/obo/HP_0032258							
HP:0032259	biolink:PhenotypicFeature	Chronic tinea infection	The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.		hp.json		http://purl.obolibrary.org/obo/HP_0032259							
HP:0032260	biolink:PhenotypicFeature	Opportunistic bacterial infection	An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.		hp.json		http://purl.obolibrary.org/obo/HP_0032260							
HP:0032261	biolink:PhenotypicFeature	Nontuberculous mycobacterial pulmonary infection	An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.		hp.json		http://purl.obolibrary.org/obo/HP_0032261							
HP:0032262	biolink:PhenotypicFeature	Pulmonary tuberculosis	A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.		hp.json	Pulmonary TB	http://purl.obolibrary.org/obo/HP_0032262							
HP:0032263	biolink:PhenotypicFeature	Increased blood pressure	Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.		hp.json	Increased BP	http://purl.obolibrary.org/obo/HP_0032263							
HP:0032264	biolink:PhenotypicFeature	Anti-NMDA receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.		hp.json	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							
HP:0032265	biolink:PhenotypicFeature	CSF autoimmune antibody positivity	The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.		hp.json	Cerebrospinal fluid autoimmune antibody positivity	http://purl.obolibrary.org/obo/HP_0032265							
HP:0032266	biolink:PhenotypicFeature	CSF anti-NMDA receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.		hp.json	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							
HP:0032267	biolink:PhenotypicFeature	Empty delta sign	This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.		hp.json		http://purl.obolibrary.org/obo/HP_0032267							
HP:0032268	biolink:PhenotypicFeature	Dural tail sign	This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.		hp.json		http://purl.obolibrary.org/obo/HP_0032268							
HP:0032269	biolink:PhenotypicFeature	Lemon sign	Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon.		hp.json		http://purl.obolibrary.org/obo/HP_0032269							
HP:0032270	biolink:PhenotypicFeature	Optic nerve tram-track sign	A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.		hp.json		http://purl.obolibrary.org/obo/HP_0032270							
HP:0032271	biolink:PhenotypicFeature	Extrapulmonary tuberculosis	A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.		hp.json	Extrapulmonary TB	http://purl.obolibrary.org/obo/HP_0032271							
HP:0032272	biolink:PhenotypicFeature	Elevated urinary N-acetylaspartic acid level	Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.		hp.json		http://purl.obolibrary.org/obo/HP_0032272							
HP:0032273	biolink:PhenotypicFeature	Increased circulating N-Acetylaspartic acid concentration	An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.		hp.json	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							
HP:0032274	biolink:PhenotypicFeature	Increased CSF N-Acetylaspartic acid concentration	An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).		hp.json	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							
HP:0032275	biolink:PhenotypicFeature	Recurrent shingles	Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.		hp.json		http://purl.obolibrary.org/obo/HP_0032275							
HP:0032276	biolink:PhenotypicFeature	Prominent subcalcaneal fat pad	Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.		hp.json		http://purl.obolibrary.org/obo/HP_0032276							
HP:0032277	biolink:PhenotypicFeature	Lozenge-shaped umbilicus			hp.json		http://purl.obolibrary.org/obo/HP_0032277							
HP:0032278	biolink:PhenotypicFeature	2-hydroxyglutarate aciduria	An increase in the level of 2-hydroxyglutaric acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032278							
HP:0032281	biolink:PhenotypicFeature	Abnormal base excess	Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).		hp.json		http://purl.obolibrary.org/obo/HP_0032281							
HP:0032282	biolink:PhenotypicFeature	Contact dermatitis	An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.		hp.json		http://purl.obolibrary.org/obo/HP_0032282							
HP:0032283	biolink:PhenotypicFeature	Disseminated nontuberculous mycobacterial infection	An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.		hp.json		http://purl.obolibrary.org/obo/HP_0032283							
HP:0032284	biolink:PhenotypicFeature	Ultra-low vision with retained motion projection	Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).		hp.json		http://purl.obolibrary.org/obo/HP_0032284							
HP:0032285	biolink:PhenotypicFeature	Ultra-low vision with retained light projection	Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.		hp.json		http://purl.obolibrary.org/obo/HP_0032285							
HP:0032286	biolink:PhenotypicFeature	Ultra-low vision with retained light perception	Ultra-low vision but with retained ability to perceive the difference between light and dark.		hp.json		http://purl.obolibrary.org/obo/HP_0032286							
HP:0032287	biolink:PhenotypicFeature	Ultra-low vision with no light perception	Ultra-low vision with complete lack of light and form perception.		hp.json		http://purl.obolibrary.org/obo/HP_0032287							
HP:0032288	biolink:PhenotypicFeature	Polyclonal elevation of circulating IgG	An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.		hp.json		http://purl.obolibrary.org/obo/HP_0032288							
HP:0032289	biolink:PhenotypicFeature	Oligoclonal elevation of circulating IgG	An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.		hp.json		http://purl.obolibrary.org/obo/HP_0032289							
HP:0032290	biolink:PhenotypicFeature	Monoclonal elevation of IgG	An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.		hp.json		http://purl.obolibrary.org/obo/HP_0032290							
HP:0032291	biolink:PhenotypicFeature	Monoclonal elevation of intact IgG	A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.		hp.json		http://purl.obolibrary.org/obo/HP_0032291							
HP:0032292	biolink:PhenotypicFeature	Monoclonal elevation of IgG light chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.		hp.json		http://purl.obolibrary.org/obo/HP_0032292							
HP:0032293	biolink:PhenotypicFeature	Monoclonal elevation of IgG heavy chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.		hp.json		http://purl.obolibrary.org/obo/HP_0032293							
HP:0032294	biolink:PhenotypicFeature	Monoclonal elevation of IgG kappa chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.		hp.json		http://purl.obolibrary.org/obo/HP_0032294							
HP:0032295	biolink:PhenotypicFeature	Monoclonal elevation of IgG lambda chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.		hp.json		http://purl.obolibrary.org/obo/HP_0032295							
HP:0032296	biolink:PhenotypicFeature	Increased circulating IgG subclass	An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.		hp.json		http://purl.obolibrary.org/obo/HP_0032296							
HP:0032297	biolink:PhenotypicFeature	Increased circulating IgG3 level	An abnormally increased concentration of the IgG3 subtype in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032297							
HP:0032298	biolink:PhenotypicFeature	Increased circulating IgG1 level	An abnormally increased concentration of the IgG1 subtype in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032298							
HP:0032299	biolink:PhenotypicFeature	Increased circulating IgG2 level	An abnormally increased concentration of the IgG2 subtype in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032299							
HP:0032300	biolink:PhenotypicFeature	Increased circulating IgG4 level	An abnormally increased concentration of the IgG4 subtype in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032300							
HP:0032301	biolink:PhenotypicFeature	Genital warts	Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.		hp.json		http://purl.obolibrary.org/obo/HP_0032301							
HP:0032302	biolink:PhenotypicFeature	Kappa Bence Jones proteinuria	The presence of free monoclonal kappa immunoglobulin light chains in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032302							
HP:0032303	biolink:PhenotypicFeature	Lambda Bence Jones proteinuria	The presence of free monoclonal lambda immunoglobulin light chains in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032303							
HP:0032304	biolink:PhenotypicFeature	Abnormal mannose-binding protein level	Any deviation from the normal concentration of mannose-binding protein in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032304							
HP:0032305	biolink:PhenotypicFeature	Decreased mannose-binding protein level	An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032305							
HP:0032306	biolink:PhenotypicFeature	Increased mannose-binding protein level	An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032306							
HP:0032308	biolink:PhenotypicFeature	Increased circulating procalcitonin concentration	An elevated concentration of procalcitonin in the blood circulation.		hp.json	Increased circulating procalcitonin level	http://purl.obolibrary.org/obo/HP_0032308							
HP:0032309	biolink:PhenotypicFeature	Abnormal granulocyte count	Any deviation from the normal cell count per volume of granulocytes in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032309							
HP:0032310	biolink:PhenotypicFeature	Granulocytosis	An increased count of granulocytes in the peripheral blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032310							
HP:0032311	biolink:PhenotypicFeature	Increased circulating globulin level	An abnormally elevated concentration of globulins in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032311							
HP:0032312	biolink:PhenotypicFeature	Decreased circulating globulin level	An abnormally reduced concentration of globulins in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032312							
HP:0032313	biolink:PhenotypicFeature	Frontotemporal hypertrichosis	Excessive, increased hair growth located in the region of the forehead and temple.		hp.json		http://purl.obolibrary.org/obo/HP_0032313							
HP:0032314	biolink:PhenotypicFeature	Abnormal areolar morphology	An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.		hp.json		http://purl.obolibrary.org/obo/HP_0032314							
HP:0032315	biolink:PhenotypicFeature	Areolar fullness	The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.		hp.json		http://purl.obolibrary.org/obo/HP_0032315							
HP:0032316	biolink:PhenotypicFeature	Family history	Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.		hp.json		http://purl.obolibrary.org/obo/HP_0032316							
HP:0032317	biolink:PhenotypicFeature	Family history of cancer	A close blood relative had cancer.		hp.json		http://purl.obolibrary.org/obo/HP_0032317							
HP:0032318	biolink:PhenotypicFeature	Family history of heart disease	A close blood relative had heart disease.		hp.json		http://purl.obolibrary.org/obo/HP_0032318							
HP:0032319	biolink:PhenotypicFeature	Health status	Health status of a family member with respect to the disease being investigated in a proband.		hp.json		http://purl.obolibrary.org/obo/HP_0032319							
HP:0032320	biolink:PhenotypicFeature	Affected	This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).		hp.json		http://purl.obolibrary.org/obo/HP_0032320							
HP:0032321	biolink:PhenotypicFeature	Unaffected	This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.		hp.json		http://purl.obolibrary.org/obo/HP_0032321							
HP:0032322	biolink:PhenotypicFeature	Healthy	No history of any serious disease, including the disease being investigated in the proband.		hp.json		http://purl.obolibrary.org/obo/HP_0032322							
HP:0032323	biolink:PhenotypicFeature	Periodic fever	Episodic fever that recurs at regular intervals.		hp.json		http://purl.obolibrary.org/obo/HP_0032323							
HP:0032324	biolink:PhenotypicFeature	Non-periodic recurrent fever	Episodic fever that recurs at irregular intervals.		hp.json		http://purl.obolibrary.org/obo/HP_0032324							
HP:0032325	biolink:PhenotypicFeature	Lacunar stroke	A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.		hp.json		http://purl.obolibrary.org/obo/HP_0032325							
HP:0032326	biolink:PhenotypicFeature	Methicillin-resistant Staphylococcus aureus infection	Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.		hp.json	MRSA infection	http://purl.obolibrary.org/obo/HP_0032326							
HP:0032327	biolink:PhenotypicFeature	Interhemispheric cyst	Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.		hp.json		http://purl.obolibrary.org/obo/HP_0032327							
HP:0032328	biolink:PhenotypicFeature	Temporomandibular joint adhesion	Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.		hp.json		http://purl.obolibrary.org/obo/HP_0032328							
HP:0032329	biolink:PhenotypicFeature	Increased urinary 11-deoxycortisol level	An abnormally elevated concentration of 11-deoxycortisol in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032329							
HP:0032330	biolink:PhenotypicFeature	Increased urinary 11-deoxycorticosterone level	An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032330							
HP:0032331	biolink:PhenotypicFeature	Increased urinary 11-deoxytetrahydrocorticosterone level	An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032331							
HP:0032332	biolink:PhenotypicFeature	Oligoclonal elevation of circulating IgM	An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.		hp.json		http://purl.obolibrary.org/obo/HP_0032332							
HP:0032333	biolink:PhenotypicFeature	Polyclonal elevation of circulating IgA	A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.		hp.json		http://purl.obolibrary.org/obo/HP_0032333							
HP:0032334	biolink:PhenotypicFeature	Oligoclonal elevation of circulating IgA	An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.		hp.json		http://purl.obolibrary.org/obo/HP_0032334							
HP:0032335	biolink:PhenotypicFeature	Monoclonal elevation of circulating IgA	An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.		hp.json		http://purl.obolibrary.org/obo/HP_0032335							
HP:0032336	biolink:PhenotypicFeature	Increased circulating specific IgE antibody			hp.json		http://purl.obolibrary.org/obo/HP_0032336							
HP:0032337	biolink:PhenotypicFeature	Monoclonal elevation of circulating IgE	An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.		hp.json		http://purl.obolibrary.org/obo/HP_0032337							
HP:0032338	biolink:PhenotypicFeature	Oligoclonal elevation of circulating IgE	An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.		hp.json		http://purl.obolibrary.org/obo/HP_0032338							
HP:0032339	biolink:PhenotypicFeature	Polyclonal elevation of circulating IgE	A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.		hp.json		http://purl.obolibrary.org/obo/HP_0032339							
HP:0032340	biolink:PhenotypicFeature	obsolete Abnormal spirometry test			hp.json		http://purl.obolibrary.org/obo/HP_0032340							
HP:0032341	biolink:PhenotypicFeature	Reduced forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal inspiration.		hp.json	Reduced FVC|Decreased forced vital capacity	http://purl.obolibrary.org/obo/HP_0032341							
HP:0032342	biolink:PhenotypicFeature	Reduced forced expiratory volume in one second	An abnormal reduction in the amount of air a person can forcefully expel in one second.		hp.json		http://purl.obolibrary.org/obo/HP_0032342							
HP:0032344	biolink:PhenotypicFeature	Upslanting toenail	Upturned concavity of toenails.		hp.json	Ski-jump toenail|Upturned toenail	http://purl.obolibrary.org/obo/HP_0032344							
HP:0032345	biolink:PhenotypicFeature	Elevated cancer Ag 19-9 level	An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032345							
HP:0032346	biolink:PhenotypicFeature	Cutaneous lichen amyloidosis	Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.		hp.json		http://purl.obolibrary.org/obo/HP_0032346							
HP:0032347	biolink:PhenotypicFeature	Cutaneous macular amyloidosis	A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.		hp.json	Macular amyloidosis	http://purl.obolibrary.org/obo/HP_0032347							
HP:0032348	biolink:PhenotypicFeature	Cutaneous nodular amyloidosis	A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0032348							
HP:0032349	biolink:PhenotypicFeature	Serinuria	A increased concentration of serine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032349							
HP:0032350	biolink:PhenotypicFeature	Sulfocysteinuria	A increased concentration of sulfocysteine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032350							
HP:0032351	biolink:PhenotypicFeature	Phenylalaninuria	Increased level of phenylalanine in urine.		hp.json	Increased level of phenylalanine in urine	http://purl.obolibrary.org/obo/HP_0032351							
HP:0032352	biolink:PhenotypicFeature	Methioninuria	Increased level of methionine in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032352							
HP:0032353	biolink:PhenotypicFeature	Leucinuria	Increased level of leucine in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032353							
HP:0032355	biolink:PhenotypicFeature	Decreased peak expiratory flow	A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.		hp.json		http://purl.obolibrary.org/obo/HP_0032355							
HP:0032356	biolink:PhenotypicFeature	Decreased pre-bronchodilator forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.		hp.json	Decreased pre bronchodilator forced vital capacity|Decreased prebronchodilator forced vital capacity	http://purl.obolibrary.org/obo/HP_0032356							
HP:0032357	biolink:PhenotypicFeature	Decreased post-bronchodilator forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.		hp.json	Decreased post bronchodilator forced vital capacity|Decreased postbronchodilator forced vital capacity	http://purl.obolibrary.org/obo/HP_0032357							
HP:0032358	biolink:PhenotypicFeature	Decreased post-bronchodilator forced expiratory volume in one second	An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.		hp.json	Decreased post bronchodilator forced expiratory volume in one second|Decreased postbronchodilator forced expiratory volume in one second	http://purl.obolibrary.org/obo/HP_0032358							
HP:0032359	biolink:PhenotypicFeature	Decreased forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.		hp.json	Decreased FEF25-75%	http://purl.obolibrary.org/obo/HP_0032359							
HP:0032360	biolink:PhenotypicFeature	Decreased pre-bronchodilator forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.		hp.json	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							
HP:0032361	biolink:PhenotypicFeature	Decreased post-bronchodilator forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.		hp.json	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							
HP:0032362	biolink:PhenotypicFeature	Increased circulating corticosterone level	An abnormally elevated concentration of corticosterone in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032362							
HP:0032363	biolink:PhenotypicFeature	Decreased circulating corticosterone level	An abnormally reduced concentration of corticosterone in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0032363							
HP:0032364	biolink:PhenotypicFeature	obsolete Abnormal CSF amino acid level			hp.json		http://purl.obolibrary.org/obo/HP_0032364							
HP:0032365	biolink:PhenotypicFeature	Exacerbated by aspirin ingestion	Applied to a sign or symptom that is worsened by ingestion of aspirin.		hp.json		http://purl.obolibrary.org/obo/HP_0032365							
HP:0032366	biolink:PhenotypicFeature	Positive direct antiglobulin test	A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.		hp.json		http://purl.obolibrary.org/obo/HP_0032366							
HP:0032367	biolink:PhenotypicFeature	Abnormal growth hormone level	Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.		hp.json	Abnormal somatotropin level	http://purl.obolibrary.org/obo/HP_0032367							
HP:0032368	biolink:PhenotypicFeature	Acidemia	An abnormally low blood pH (usually defined as less than 7.35).		hp.json		http://purl.obolibrary.org/obo/HP_0032368							
HP:0032369	biolink:PhenotypicFeature	Alkalemia	An abnormally high blood pH (usually defined as 7.41 or above).		hp.json		http://purl.obolibrary.org/obo/HP_0032369							
HP:0032370	biolink:PhenotypicFeature	Blood group A	ABO phenotype A, corresponding to the genotype AO or AA.		hp.json		http://purl.obolibrary.org/obo/HP_0032370							
HP:0032371	biolink:PhenotypicFeature	Isoleucinuria	An increased concentration of isoleucine in the urine.		hp.json	Hyperisoleucinuria	http://purl.obolibrary.org/obo/HP_0032371							
HP:0032372	biolink:PhenotypicFeature	Increased peripheral blast count	An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.		hp.json	Elevated blast count|Elevated circulating blasts|Increased peripheral myeloblast count	http://purl.obolibrary.org/obo/HP_0032372							
HP:0032373	biolink:PhenotypicFeature	Duffy blood group	The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.		hp.json		http://purl.obolibrary.org/obo/HP_0032373							
HP:0032374	biolink:PhenotypicFeature	Duffy Fya positivity	Presence of the Duffy Fya antigen.		hp.json		http://purl.obolibrary.org/obo/HP_0032374							
HP:0032375	biolink:PhenotypicFeature	Duffy Fyb positivity	Presence of the Duffy Fyb antigen.		hp.json		http://purl.obolibrary.org/obo/HP_0032375							
HP:0032376	biolink:PhenotypicFeature	Anti-beta 2 glycoprotein I antibody positivity	Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).		hp.json	Anti-B2GPI positivity	http://purl.obolibrary.org/obo/HP_0032376							
HP:0032377	biolink:PhenotypicFeature	Increased urinary orosomucoid	An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.		hp.json	Increased urinary alpha-1-acid glycoprotein	http://purl.obolibrary.org/obo/HP_0032377							
HP:0032378	biolink:PhenotypicFeature	Immediate-type hypersensitivity drug reaction	Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.		hp.json		http://purl.obolibrary.org/obo/HP_0032378							
HP:0032379	biolink:PhenotypicFeature	Polymorphous light eruption	The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.		hp.json	Sun allergy	http://purl.obolibrary.org/obo/HP_0032379							
HP:0032381	biolink:PhenotypicFeature	Hydroa vacciniforme	In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.		hp.json	Acute vesiculation and crusting and scarring following sun exposure	http://purl.obolibrary.org/obo/HP_0032381							
HP:0032382	biolink:PhenotypicFeature	Uniparental disomy	Inheritance of both homologues of a chromosome pair from the same parent.		hp.json		http://purl.obolibrary.org/obo/HP_0032382							
HP:0032383	biolink:PhenotypicFeature	Uniparental heterodisomy	A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.		hp.json		http://purl.obolibrary.org/obo/HP_0032383							
HP:0032384	biolink:PhenotypicFeature	Uniparental isodisomy	A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.		hp.json		http://purl.obolibrary.org/obo/HP_0032384							
HP:0032385	biolink:PhenotypicFeature	Abnormal circulating transferrin concentration	Any deviation from the normal concentration of transferrin in the blood circulation.		hp.json	Abnormal circulating transferrin level	http://purl.obolibrary.org/obo/HP_0032385							
HP:0032386	biolink:PhenotypicFeature	Elevated circulating transferrin concentration	An abnormally increased concentration of transferrin in the blood circulation.		hp.json	Elevated transferrin level	http://purl.obolibrary.org/obo/HP_0032386							
HP:0032387	biolink:PhenotypicFeature	Reduced circulating transferrin concentration	An abnormally decreased concentration of transferrin in the blood circulation.		hp.json	Reduced transferrin level	http://purl.obolibrary.org/obo/HP_0032387							
HP:0032388	biolink:PhenotypicFeature	Periventricular nodular heterotopia	Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.		hp.json		http://purl.obolibrary.org/obo/HP_0032388							
HP:0032389	biolink:PhenotypicFeature	Periventricular laminar heterotopia	A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.		hp.json		http://purl.obolibrary.org/obo/HP_0032389							
HP:0032390	biolink:PhenotypicFeature	Periventricular ribbonlike heterotopia	Heterotopia that forms a continuous wavy line along the ventricular wall.		hp.json		http://purl.obolibrary.org/obo/HP_0032390							
HP:0032391	biolink:PhenotypicFeature	Subcortical heterotopia	A form of heterotopia were the mislocalized gray matter is located deep within the white matter.		hp.json		http://purl.obolibrary.org/obo/HP_0032391							
HP:0032392	biolink:PhenotypicFeature	Nodular subcortical heterotopia in peritrigonal regions	Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.		hp.json		http://purl.obolibrary.org/obo/HP_0032392							
HP:0032393	biolink:PhenotypicFeature	Diffuse ribbon-like subcortical heterotopia	Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0032393							
HP:0032394	biolink:PhenotypicFeature	Mesial parasagittal subcortical heterotopia	Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.		hp.json		http://purl.obolibrary.org/obo/HP_0032394							
HP:0032395	biolink:PhenotypicFeature	Curvilinear subcortical heterotopia	Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.		hp.json	Giant heterotopia	http://purl.obolibrary.org/obo/HP_0032395							
HP:0032396	biolink:PhenotypicFeature	Transmantle columnar heterotopia	Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.		hp.json		http://purl.obolibrary.org/obo/HP_0032396							
HP:0032397	biolink:PhenotypicFeature	Citrullinuria	An increased concentration of citrulline in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032397							
HP:0032398	biolink:PhenotypicFeature	Dysgyria	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.		hp.json		http://purl.obolibrary.org/obo/HP_0032398							
HP:0032399	biolink:PhenotypicFeature	Dysgyria with normal cortical thickness	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0032399							
HP:0032400	biolink:PhenotypicFeature	Dysgyria with thickened cortex	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.		hp.json		http://purl.obolibrary.org/obo/HP_0032400							
HP:0032401	biolink:PhenotypicFeature	Aspartic aciduria	A increased concentration of aspartic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032401							
HP:0032403	biolink:PhenotypicFeature	Asparaginuria	An increased concentration of asparagine in the urine.		hp.json	Increased level of asparagine in urine|Increased urine asparagine level	http://purl.obolibrary.org/obo/HP_0032403							
HP:0032404	biolink:PhenotypicFeature	Testicular mass	An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.		hp.json		http://purl.obolibrary.org/obo/HP_0032404							
HP:0032405	biolink:PhenotypicFeature	Increased urinary phosphoserine level	An increased level of phosphoserine in the urine.		hp.json	Increased level of phosphoserine in urine	http://purl.obolibrary.org/obo/HP_0032405							
HP:0032406	biolink:PhenotypicFeature	Unilateral perisylvian polymicrogyria	A type of perisylvian polymicrogyria that largely affects one side of the brain.		hp.json		http://purl.obolibrary.org/obo/HP_0032406							
HP:0032407	biolink:PhenotypicFeature	Bilateral perisylvian polymicrogyria	A type of perisylvian polymicrogyria that affects both sides of the brain.		hp.json		http://purl.obolibrary.org/obo/HP_0032407							
HP:0032408	biolink:PhenotypicFeature	Breast mass	A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.		hp.json	Breast lump	http://purl.obolibrary.org/obo/HP_0032408							
HP:0032409	biolink:PhenotypicFeature	Subcortical band heterotopia	A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.		hp.json		http://purl.obolibrary.org/obo/HP_0032409							
HP:0032410	biolink:PhenotypicFeature	Bilateral generalized polymicrogyria	Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.		hp.json	Bilateral generalised polymicrogyria|Diffuse polymicrogyria	http://purl.obolibrary.org/obo/HP_0032410							
HP:0032411	biolink:PhenotypicFeature	Posterior predominant subcortical band heterotopia	Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.		hp.json	Occipital subcortical band heterotopia|Subcortical band heterotopia posterior predominant	http://purl.obolibrary.org/obo/HP_0032411							
HP:0032412	biolink:PhenotypicFeature	Anterior predominant subcortical band heterotopia	Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.		hp.json	Frontal subcortical band heterotopia|Subcortical band heterotopia anterior predominant	http://purl.obolibrary.org/obo/HP_0032412							
HP:0032413	biolink:PhenotypicFeature	Diffuse subcortical band heterotopia	Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.		hp.json	Subcortical band heterotopia diffuse	http://purl.obolibrary.org/obo/HP_0032413							
HP:0032414	biolink:PhenotypicFeature	Hydroxylysinuria	The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.		hp.json		http://purl.obolibrary.org/obo/HP_0032414							
HP:0032415	biolink:PhenotypicFeature	Parasagittal parieto-occipital polymicrogyria	Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0032415							
HP:0032416	biolink:PhenotypicFeature	Retinal microaneurysm	A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032416							
HP:0032417	biolink:PhenotypicFeature	Periglomerular fibrosis	Circumferential fibrosis in the interstitium surrounding Bowman's capsule	PMID:32866505	hp.json	Periglomerular fibrotic thickening	http://purl.obolibrary.org/obo/HP_0032417							
HP:0032418	biolink:PhenotypicFeature	Abnormal HDL subfraction concentration	An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).		hp.json		http://purl.obolibrary.org/obo/HP_0032418							
HP:0032419	biolink:PhenotypicFeature	Abnormal HDL2a concentration	Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032419							
HP:0032420	biolink:PhenotypicFeature	Increased HDL2a concentration	An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032420							
HP:0032421	biolink:PhenotypicFeature	Decreased HDL2a concentration	A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032421							
HP:0032422	biolink:PhenotypicFeature	Abnormal HDL2b concentration	Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032422							
HP:0032423	biolink:PhenotypicFeature	Decreased HDL2b concentration	A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032423							
HP:0032424	biolink:PhenotypicFeature	Increased HDL2b concentration	An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032424							
HP:0032425	biolink:PhenotypicFeature	Abnormal HDL3a concentration	Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032425							
HP:0032426	biolink:PhenotypicFeature	Abnormal HDL3b concentration	Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032426							
HP:0032427	biolink:PhenotypicFeature	Abnormal HDL3c concentration	Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032427							
HP:0032428	biolink:PhenotypicFeature	Increased HDL3a concentration	An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032428							
HP:0032429	biolink:PhenotypicFeature	Decreased HDL3a concentration	A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032429							
HP:0032430	biolink:PhenotypicFeature	Increased HDL3b concentration	An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032430							
HP:0032431	biolink:PhenotypicFeature	Decreased HDL3b concentration	A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032431							
HP:0032432	biolink:PhenotypicFeature	Increased HDL3c concentration	An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032432							
HP:0032433	biolink:PhenotypicFeature	Decreased HDL3c concentration	A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.		hp.json		http://purl.obolibrary.org/obo/HP_0032433							
HP:0032434	biolink:PhenotypicFeature	Delayed umbilical cord separation	Separation of the umbilical cord occurs at an abnormally late timepoint.		hp.json		http://purl.obolibrary.org/obo/HP_0032434							
HP:0032435	biolink:PhenotypicFeature	Neonatal omphalitis	An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.		hp.json	Omphalitis	http://purl.obolibrary.org/obo/HP_0032435							
HP:0032436	biolink:PhenotypicFeature	Abnormal C-reactive protein level	Any deviation from the normal concentration of C-reactive protein in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032436							
HP:0032437	biolink:PhenotypicFeature	Reduced C-reactive protein level	An abnormal decrease of the C-reactive protein level in serum.		hp.json		http://purl.obolibrary.org/obo/HP_0032437							
HP:0032438	biolink:PhenotypicFeature	Platelet anisocytosis	Abnormally increased variability in the size of platelets.		hp.json		http://purl.obolibrary.org/obo/HP_0032438							
HP:0032439	biolink:PhenotypicFeature	Airborn particle hypersensitivity	An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.		hp.json		http://purl.obolibrary.org/obo/HP_0032439							
HP:0032440	biolink:PhenotypicFeature	Blood group B	ABO phenotype B, corresponding to the genotype BO or BB.		hp.json		http://purl.obolibrary.org/obo/HP_0032440							
HP:0032441	biolink:PhenotypicFeature	Blood group AB	ABO phenotype AB, corresponding to the genotype AB.		hp.json		http://purl.obolibrary.org/obo/HP_0032441							
HP:0032442	biolink:PhenotypicFeature	Blood group O	ABO phenotype O, corresponding to the genotype OO.		hp.json		http://purl.obolibrary.org/obo/HP_0032442							
HP:0032443	biolink:PhenotypicFeature	Past medical history	In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.		hp.json		http://purl.obolibrary.org/obo/HP_0032443							
HP:0032444	biolink:PhenotypicFeature	Status post organ transplantation	The affected individual has received an organ transplant previous to the current medical encounter.		hp.json	s/p organ transplantation	http://purl.obolibrary.org/obo/HP_0032444							
HP:0032445	biolink:PhenotypicFeature	Pulmonary cyst	A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.		hp.json	Lung cyst	http://purl.obolibrary.org/obo/HP_0032445							
HP:0032446	biolink:PhenotypicFeature	Pulmonary bulla	Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.		hp.json	Pulmonary bullae	http://purl.obolibrary.org/obo/HP_0032446							
HP:0032447	biolink:PhenotypicFeature	Pulmonary bleb	A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.		hp.json		http://purl.obolibrary.org/obo/HP_0032447							
HP:0032448	biolink:PhenotypicFeature	Achlorhydria	A condition in which production of hydrochloric acid in the stomach is absent.		hp.json		http://purl.obolibrary.org/obo/HP_0032448							
HP:0032449	biolink:PhenotypicFeature	Abnormal dermoepidermal hemidesmosome morphology	An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0032449							
HP:0032450	biolink:PhenotypicFeature	Positive blood arsenic test	Detection of arsenic in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032450							
HP:0032451	biolink:PhenotypicFeature	Oral melanotic macule	Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.		hp.json	Melanotic macule of oral mucosa	http://purl.obolibrary.org/obo/HP_0032451							
HP:0032452	biolink:PhenotypicFeature	Oral melanoacanthoma	Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.		hp.json		http://purl.obolibrary.org/obo/HP_0032452							
HP:0032453	biolink:PhenotypicFeature	Abnormal lip pigmentation	Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.		hp.json		http://purl.obolibrary.org/obo/HP_0032453							
HP:0032454	biolink:PhenotypicFeature	Labial melanotic macule	Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.		hp.json	Labial melanotic freckle	http://purl.obolibrary.org/obo/HP_0032454							
HP:0032455	biolink:PhenotypicFeature	Reduced granulocyte CD18 level	Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.		hp.json		http://purl.obolibrary.org/obo/HP_0032455							
HP:0032456	biolink:PhenotypicFeature	Unlayered lissencephaly	A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.		hp.json		http://purl.obolibrary.org/obo/HP_0032456							
HP:0032457	biolink:PhenotypicFeature	2-3-layered lissencephaly	Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.		hp.json		http://purl.obolibrary.org/obo/HP_0032457							
HP:0032458	biolink:PhenotypicFeature	Narrowing of medullary canal	A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.		hp.json	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							
HP:0032459	biolink:PhenotypicFeature	Abnormal phosphoribosylpyrophosphate synthetase level	Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.		hp.json		http://purl.obolibrary.org/obo/HP_0032459							
HP:0032460	biolink:PhenotypicFeature	Decreased phosphoribosylpyrophosphate synthetase level	Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.		hp.json		http://purl.obolibrary.org/obo/HP_0032460							
HP:0032461	biolink:PhenotypicFeature	obsolete Tiger-tail banding			hp.json		http://purl.obolibrary.org/obo/HP_0032461							
HP:0032462	biolink:PhenotypicFeature	Increased circulating palmitate level	An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032462							
HP:0032463	biolink:PhenotypicFeature	Reduced circulating fibronectin level	A reduction below the normal concentration of fibronectin the the blood circulation.		hp.json	Decreased plasma fibronectin	http://purl.obolibrary.org/obo/HP_0032463							
HP:0032464	biolink:PhenotypicFeature	Ureteral hypoplasia	Underdevelopment of the ureter.		hp.json	Hypoplasia of the ureter|Ureter hypoplasia	http://purl.obolibrary.org/obo/HP_0032464							
HP:0032465	biolink:PhenotypicFeature	Bladder trabeculation	Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.		hp.json	Trabecular bladder	http://purl.obolibrary.org/obo/HP_0032465							
HP:0032466	biolink:PhenotypicFeature	Aplasia of the olfactory bulb	Lack of formation (congenital absence) of the olfactory bulb.		hp.json	Aplastic olfactory bulb|Olfactory bulb aplasia	http://purl.obolibrary.org/obo/HP_0032466							
HP:0032467	biolink:PhenotypicFeature	Past obstetric history	Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.		hp.json	Maternal medical history	http://purl.obolibrary.org/obo/HP_0032467							
HP:0032468	biolink:PhenotypicFeature	History of stillbirth	One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).		hp.json		http://purl.obolibrary.org/obo/HP_0032468							
HP:0032469	biolink:PhenotypicFeature	Anti-asialoglycoprotein receptor antibody positivity	Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032469							
HP:0032470	biolink:PhenotypicFeature	Monilethrix	The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.		hp.json		http://purl.obolibrary.org/obo/HP_0032470							
HP:0032471	biolink:PhenotypicFeature	Focal polymicrogyria	Polymicrogyria affecting one or multiple small areas of the cerebral cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0032471							
HP:0032472	biolink:PhenotypicFeature	Abnormal urine urobilinogen level	An abnormal concentration of urobilinogen in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032472							
HP:0032473	biolink:PhenotypicFeature	Decreased urine urobilinogen	An abnormally reduced concentration of urobilinogen in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032473							
HP:0032475	biolink:PhenotypicFeature	6-layered lissencephaly			hp.json		http://purl.obolibrary.org/obo/HP_0032475							
HP:0032476	biolink:PhenotypicFeature	Abnormal circulating vitamin B6 level	An abnormal concentration of vitamin B6 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032476							
HP:0032477	biolink:PhenotypicFeature	Elevated circulating vitamin B6 level	An abnormally increased concentration of vitamin B6 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032477							
HP:0032478	biolink:PhenotypicFeature	Lateral spinal meningocele	Protrusion of the arachnoid and dura through spinal foramina.		hp.json		http://purl.obolibrary.org/obo/HP_0032478							
HP:0032479	biolink:PhenotypicFeature	Preimplantation lethality	It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.		hp.json	Preimplantation embryonic lethality	http://purl.obolibrary.org/obo/HP_0032479							
HP:0032480	biolink:PhenotypicFeature	Beta-aminoisobutyric aciduria	An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.		hp.json		http://purl.obolibrary.org/obo/HP_0032480							
HP:0032481	biolink:PhenotypicFeature	Abnormal pituitary glycoprotein hormone alpha subunit level	Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).		hp.json		http://purl.obolibrary.org/obo/HP_0032481							
HP:0032482	biolink:PhenotypicFeature	Decreased pituitary glycoprotein hormone alpha subunit level	An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).		hp.json	Decreased pituitary glycoprotein alpha subunit level|Decreased pituitary glycoprotein polypeptide alpha subunit level	http://purl.obolibrary.org/obo/HP_0032482							
HP:0032483	biolink:PhenotypicFeature	Abnormal fecal test result	Abnormal level of metabolite or other abnormal analyte result in a stool test.		hp.json	Abnormal faecal test result	http://purl.obolibrary.org/obo/HP_0032483							
HP:0032484	biolink:PhenotypicFeature	Elevated fecal sodium	An elevated concentration of sodium in feces.		hp.json	Elevated faecal sodium	http://purl.obolibrary.org/obo/HP_0032484							
HP:0032485	biolink:PhenotypicFeature	Abnormal fecal osmolality	Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.		hp.json	Abnormal faecal osmolality	http://purl.obolibrary.org/obo/HP_0032485							
HP:0032486	biolink:PhenotypicFeature	Elevated fecal osmolality	Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.		hp.json	Elevated faecal osmolality	http://purl.obolibrary.org/obo/HP_0032486							
HP:0032487	biolink:PhenotypicFeature	Reduced fecal osmolality	Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.		hp.json	Reduced faecal osmolality	http://purl.obolibrary.org/obo/HP_0032487							
HP:0032488	biolink:PhenotypicFeature	Abnormal fecal pH	Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.		hp.json	Abnormal faecal pH	http://purl.obolibrary.org/obo/HP_0032488							
HP:0032489	biolink:PhenotypicFeature	Elevated fecal pH	Abnormally high fecal pH, i.e., abnormal alkalinity of feces.		hp.json	Elevated faecal pH	http://purl.obolibrary.org/obo/HP_0032489							
HP:0032490	biolink:PhenotypicFeature	Decreased fecal pH	Abnormally low fecal pH, i.e., abnormal acidity of feces.		hp.json	Decreased faecal pH	http://purl.obolibrary.org/obo/HP_0032490							
HP:0032491	biolink:PhenotypicFeature	Increased circulating argininosuccinic acid	An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032491							
HP:0032492	biolink:PhenotypicFeature	Anti-myelin oligodendrocyte glycoprotein antibody positivity	Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.		hp.json	Anti-MOG antibody positivity	http://purl.obolibrary.org/obo/HP_0032492							
HP:0032493	biolink:PhenotypicFeature	Increased circulating trypsinogen	An abnormally high concentration of trypsinogen in the blood circulation.		hp.json	Increased immunoreactive trypsinogen	http://purl.obolibrary.org/obo/HP_0032493							
HP:0032495	biolink:PhenotypicFeature	Abnormal terminal:vellus ratio	A deviation from the normal proportion of terminal to vellus hairs.		hp.json		http://purl.obolibrary.org/obo/HP_0032495							
HP:0032496	biolink:PhenotypicFeature	Elevated terminal:vellus ratio	An increased proportion of terminal hairs compared to vellus hairs.		hp.json		http://purl.obolibrary.org/obo/HP_0032496							
HP:0032497	biolink:PhenotypicFeature	Reduced terminal:vellus ratio	A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.		hp.json		http://purl.obolibrary.org/obo/HP_0032497							
HP:0032499	biolink:PhenotypicFeature	Giant neutrophil granules	The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.		hp.json		http://purl.obolibrary.org/obo/HP_0032499							
HP:0032500	biolink:PhenotypicFeature	Exacerbated by tobacco use	Applied to a sign or symptom that is worsened by smoking tobacco products.		hp.json	Aggravated by tobacco use|Exacerbated by smoking|Smoking or tobacco use exacerbates symptoms	http://purl.obolibrary.org/obo/HP_0032500							
HP:0032501	biolink:PhenotypicFeature	Exacerbated by contraceptive medication	Applied to a sign or symptom that is worsened by taking contraceptive medication.		hp.json	Contraceptive pills aggravate symptoms	http://purl.obolibrary.org/obo/HP_0032501							
HP:0032502	biolink:PhenotypicFeature	Exacerbated by barbiturate medication	Applied to a sign or symptom that is worsened by taking barbituates.		hp.json	Barbiturates produce worsening	http://purl.obolibrary.org/obo/HP_0032502							
HP:0032503	biolink:PhenotypicFeature	Ameliorated by ethanol ingestion	Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).		hp.json	Ethanol reduces manifestations	http://purl.obolibrary.org/obo/HP_0032503							
HP:0032504	biolink:PhenotypicFeature	Lhermitte's sign	An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.		hp.json	Barber chair phenomenon|Lhermitte's phenomenon	http://purl.obolibrary.org/obo/HP_0032504							
HP:0032505	biolink:PhenotypicFeature	Hydrophobia	Pharyngeal spasms provoked by an attempt to drink.		hp.json		http://purl.obolibrary.org/obo/HP_0032505							
HP:0032506	biolink:PhenotypicFeature	Alien limb phenomenon	Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.		hp.json		http://purl.obolibrary.org/obo/HP_0032506							
HP:0032507	biolink:PhenotypicFeature	Labiomental fasciculations	Fasciculations affecting the tongue muscle and the musculature of the chin.		hp.json	Fasciculations, labiomental	http://purl.obolibrary.org/obo/HP_0032507							
HP:0032508	biolink:PhenotypicFeature	Polyembolokoilamania	Habitual insertion of foreign bodies into bodily orifices.		hp.json		http://purl.obolibrary.org/obo/HP_0032508							
HP:0032509	biolink:PhenotypicFeature	Onychotillomania	Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.		hp.json		http://purl.obolibrary.org/obo/HP_0032509							
HP:0032510	biolink:PhenotypicFeature	Tendon pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.		hp.json		http://purl.obolibrary.org/obo/HP_0032510							
HP:0032511	biolink:PhenotypicFeature	Superiorly positioned umbilicus	The position of the umbilicus (belly button) is abnormally high (superior).		hp.json		http://purl.obolibrary.org/obo/HP_0032511							
HP:0032513	biolink:PhenotypicFeature	Four-vessel umbilical cord	Four-vessel umbilical cord containing two arteries and two veins.		hp.json		http://purl.obolibrary.org/obo/HP_0032513							
HP:0032514	biolink:PhenotypicFeature	Duplicated lacrimal punctum	A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face.		hp.json	Double lacrimal puncta|Lacrimal punctum, duplication	http://purl.obolibrary.org/obo/HP_0032514							
HP:0032515	biolink:PhenotypicFeature	Deep dermatophytosis	A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.		hp.json		http://purl.obolibrary.org/obo/HP_0032515							
HP:0032516	biolink:PhenotypicFeature	Invasive dermatophyte infection	Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.		hp.json		http://purl.obolibrary.org/obo/HP_0032516							
HP:0032517	biolink:PhenotypicFeature	Majocchi's granuloma	Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.		hp.json		http://purl.obolibrary.org/obo/HP_0032517							
HP:0032518	biolink:PhenotypicFeature	Disseminated dermatophytosis	A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.		hp.json		http://purl.obolibrary.org/obo/HP_0032518							
HP:0032519	biolink:PhenotypicFeature	Increased Burr cell count	Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.		hp.json		http://purl.obolibrary.org/obo/HP_0032519							
HP:0032520	biolink:PhenotypicFeature	Masseter muscular weakness	Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.		hp.json		http://purl.obolibrary.org/obo/HP_0032520							
HP:0032521	biolink:PhenotypicFeature	Self hugging	Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.		hp.json	Spasmodic upper-body squeeze	http://purl.obolibrary.org/obo/HP_0032521							
HP:0032522	biolink:PhenotypicFeature	Ameliorated by immunosuppresion	Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.		hp.json	Immunosupressive therapy improves condition	http://purl.obolibrary.org/obo/HP_0032522							
HP:0032523	biolink:PhenotypicFeature	Tendon thickening	An abnormal increase in the thickness (diameter) of a tendon.		hp.json		http://purl.obolibrary.org/obo/HP_0032523							
HP:0032524	biolink:PhenotypicFeature	Long thumb	Length of the thumb is greater than normal.		hp.json		http://purl.obolibrary.org/obo/HP_0032524							
HP:0032525	biolink:PhenotypicFeature	Aggravated by acetylcholinesterase inhibitor	Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).		hp.json		http://purl.obolibrary.org/obo/HP_0032525							
HP:0032526	biolink:PhenotypicFeature	Ameliorated by acetylcholinesterase inhibitor	Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.		hp.json		http://purl.obolibrary.org/obo/HP_0032526							
HP:0032527	biolink:PhenotypicFeature	Inferiorly positioned umbilicus	The position of the umbilicus (belly button) is abnormally low (inferior).		hp.json	Low set umbilicus|Low-set umbilicus	http://purl.obolibrary.org/obo/HP_0032527							
HP:0032528	biolink:PhenotypicFeature	Elevated urinary 4-hydroxybutyric acid	An increased amount of 4-hydroxybutyric acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032528							
HP:0032529	biolink:PhenotypicFeature	Elevated circulating gamma-aminobutyric acid concentration	An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation.		hp.json	Elevated circulating GABA concentration	http://purl.obolibrary.org/obo/HP_0032529							
HP:0032530	biolink:PhenotypicFeature	Decreased succinic semialdehyde dehydrogenase level	Reduced level of succinic semialdehyde dehydrogenase (SSADH).		hp.json		http://purl.obolibrary.org/obo/HP_0032530							
HP:0032531	biolink:PhenotypicFeature	Elevated CSF gamma-aminobutyric acid concentration			hp.json		http://purl.obolibrary.org/obo/HP_0032531							
HP:0032532	biolink:PhenotypicFeature	Elevated CSF 4-hydroxybutyric acid concentration	Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).		hp.json	Elevated CSF GHB levels|Elevated CSF gamma-hydroxybutyric acid	http://purl.obolibrary.org/obo/HP_0032532							
HP:0032533	biolink:PhenotypicFeature	Elevated circulating acetone concentration	An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.		hp.json		http://purl.obolibrary.org/obo/HP_0032533							
HP:0032534	biolink:PhenotypicFeature	Exacerbated by methylxanthine ingestion	Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).		hp.json	Methylxanthines produce worsening	http://purl.obolibrary.org/obo/HP_0032534							
HP:0032535	biolink:PhenotypicFeature	Cervical (neck)	Applies to an abnormality that is situated in the neck.		hp.json		http://purl.obolibrary.org/obo/HP_0032535							
HP:0032536	biolink:PhenotypicFeature	Increased number of lymph nodes	An abnormally elevated number of lymph nodes in an anatomical region.		hp.json		http://purl.obolibrary.org/obo/HP_0032536							
HP:0032537	biolink:PhenotypicFeature	Delayed fracture healing	A delay in healing of a fracture past the expected duration.		hp.json		http://purl.obolibrary.org/obo/HP_0032537							
HP:0032538	biolink:PhenotypicFeature	Pretibial dimple	A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.		hp.json		http://purl.obolibrary.org/obo/HP_0032538							
HP:0032539	biolink:PhenotypicFeature	Joint extensor surface localization	Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.		hp.json		http://purl.obolibrary.org/obo/HP_0032539							
HP:0032540	biolink:PhenotypicFeature	Joint flexor surface localization	Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).		hp.json		http://purl.obolibrary.org/obo/HP_0032540							
HP:0032541	biolink:PhenotypicFeature	Knuckle pad	Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.		hp.json	Knuckle pads on dorsal aspect of finger joints	http://purl.obolibrary.org/obo/HP_0032541							
HP:0032542	biolink:PhenotypicFeature	Exacerbated by pregnancy	Applied to a sign or symptom that is worsened by being pregnant.		hp.json		http://purl.obolibrary.org/obo/HP_0032542							
HP:0032543	biolink:PhenotypicFeature	Lithoptysis	Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0032543							
HP:0032544	biolink:PhenotypicFeature	Predominant small joint localization	Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.		hp.json		http://purl.obolibrary.org/obo/HP_0032544							
HP:0032545	biolink:PhenotypicFeature	Abdominal rigidity	Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.		hp.json	Rigid abdomen	http://purl.obolibrary.org/obo/HP_0032545							
HP:0032546	biolink:PhenotypicFeature	Abdominal guarding	A voluntary contraction of the abdominal wall musculature to avoid pain.		hp.json		http://purl.obolibrary.org/obo/HP_0032546							
HP:0032547	biolink:PhenotypicFeature	Low intraocular pressure	An abnormal decrease of the pressure within the eye.		hp.json	Ocular hypotony	http://purl.obolibrary.org/obo/HP_0032547							
HP:0032548	biolink:PhenotypicFeature	Increased placental thickness	Abnormally elevated placental thickness.		hp.json	Placental thickness increased	http://purl.obolibrary.org/obo/HP_0032548							
HP:0032549	biolink:PhenotypicFeature	Persistent asymmetrical tonic neck reflex	Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.		hp.json	Persistent fencer's reflex|Tonic neck reflex asymmetrical and persistent	http://purl.obolibrary.org/obo/HP_0032549							
HP:0032550	biolink:PhenotypicFeature	Howell-Jolly bodies	Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.		hp.json		http://purl.obolibrary.org/obo/HP_0032550							
HP:0032551	biolink:PhenotypicFeature	Hemorrhoids	Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.		hp.json	Haemorrhoids|Piles	http://purl.obolibrary.org/obo/HP_0032551							
HP:0032552	biolink:PhenotypicFeature	Abnormal pulse	An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.		hp.json		http://purl.obolibrary.org/obo/HP_0032552							
HP:0032553	biolink:PhenotypicFeature	Weak pulse	A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.		hp.json		http://purl.obolibrary.org/obo/HP_0032553							
HP:0032554	biolink:PhenotypicFeature	Absent pulse	The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.		hp.json		http://purl.obolibrary.org/obo/HP_0032554							
HP:0032555	biolink:PhenotypicFeature	Bounding pulse	Increased amplitude (strength) of the pulse.		hp.json		http://purl.obolibrary.org/obo/HP_0032555							
HP:0032556	biolink:PhenotypicFeature	Circumoral cyanosis	Persistent blue color of the skin that surrounds the mouth.		hp.json	Bluish lips	http://purl.obolibrary.org/obo/HP_0032556							
HP:0032557	biolink:PhenotypicFeature	History of bone marrow transplant	A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.		hp.json	Status post haematopoietic stem cell transplantation|Status post hematopoietic stem cell transplantation	http://purl.obolibrary.org/obo/HP_0032557							
HP:0032558	biolink:PhenotypicFeature	Absent sperm flagella	Sperm cells lacking flagella.		hp.json		http://purl.obolibrary.org/obo/HP_0032558							
HP:0032559	biolink:PhenotypicFeature	Short sperm flagella	Sperm cells with abnormally short flagella.		hp.json		http://purl.obolibrary.org/obo/HP_0032559							
HP:0032560	biolink:PhenotypicFeature	Coiled sperm flagella	Sperm cells whose flagella are twisted (coiled).		hp.json		http://purl.obolibrary.org/obo/HP_0032560							
HP:0032561	biolink:PhenotypicFeature	Microcephalic sperm head	Decreased size of the head of sperm.		hp.json	Small-head sperm	http://purl.obolibrary.org/obo/HP_0032561							
HP:0032562	biolink:PhenotypicFeature	Tapered sperm head	Sperm with cigar-shaped heads that gradually dimish in diameter (taper).		hp.json		http://purl.obolibrary.org/obo/HP_0032562							
HP:0032563	biolink:PhenotypicFeature	Dacryocytosis	Presence of teardrop-shaped red blood cells.		hp.json	Dacryocytes|Tear-drop shaped erythrocytes	http://purl.obolibrary.org/obo/HP_0032563							
HP:0032564	biolink:PhenotypicFeature	Ileitis	Inflammation of the ileum.		hp.json	Inflammation of the ileum	http://purl.obolibrary.org/obo/HP_0032564							
HP:0032565	biolink:PhenotypicFeature	Vaginal mucosal ulceration			hp.json		http://purl.obolibrary.org/obo/HP_0032565							
HP:0032566	biolink:PhenotypicFeature	Oval macrocytosis	Enlarged, oval-shaped erythrocytes (red blood cells).		hp.json		http://purl.obolibrary.org/obo/HP_0032566							
HP:0032567	biolink:PhenotypicFeature	Lipiduria	An increased lipid content in the urine.		hp.json	Urinary lipid excretion	http://purl.obolibrary.org/obo/HP_0032567							
HP:0032568	biolink:PhenotypicFeature	Urinary mulberry cells	Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.		hp.json		http://purl.obolibrary.org/obo/HP_0032568							
HP:0032569	biolink:PhenotypicFeature	Temporal bossing			hp.json		http://purl.obolibrary.org/obo/HP_0032569							
HP:0032570	biolink:PhenotypicFeature	Pontine ischemic lacunes	Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.		hp.json	Pontine ischaemic lacunes	http://purl.obolibrary.org/obo/HP_0032570							
HP:0032571	biolink:PhenotypicFeature	Increased oocyte death	An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.		hp.json		http://purl.obolibrary.org/obo/HP_0032571							
HP:0032572	biolink:PhenotypicFeature	Abnormal urinary nucleobase concentration	A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).		hp.json		http://purl.obolibrary.org/obo/HP_0032572							
HP:0032573	biolink:PhenotypicFeature	Elevated urinary cytidine	Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.		hp.json		http://purl.obolibrary.org/obo/HP_0032573							
HP:0032574	biolink:PhenotypicFeature	Elevated uridine in urine	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.json	Elevated uridine in urine	http://purl.obolibrary.org/obo/HP_0032574							
HP:0032575	biolink:PhenotypicFeature	Decreased circulating 12-HETE	A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.		hp.json	Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration	http://purl.obolibrary.org/obo/HP_0032575							
HP:0032576	biolink:PhenotypicFeature	Intracellular accumulation of Dol-PP-GlcNAc2Man5	Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.		hp.json		http://purl.obolibrary.org/obo/HP_0032576							
HP:0032577	biolink:PhenotypicFeature	Clonal T cell receptor rearrangement	Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.		hp.json		http://purl.obolibrary.org/obo/HP_0032577							
HP:0032578	biolink:PhenotypicFeature	Third ventricle colloid cyst	An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.		hp.json		http://purl.obolibrary.org/obo/HP_0032578							
HP:0032579	biolink:PhenotypicFeature	Vascular hamartoma	A benign focal growth composed of vascular tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0032579							
HP:0032580	biolink:PhenotypicFeature	Abnormal bulbus cordis morphology	Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.		hp.json		http://purl.obolibrary.org/obo/HP_0032580							
HP:0032581	biolink:PhenotypicFeature	Abnormal renal insterstitial morphology	Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0032581							
HP:0032582	biolink:PhenotypicFeature	Renal interstitial foam cells	Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.		hp.json		http://purl.obolibrary.org/obo/HP_0032582							
HP:0032583	biolink:PhenotypicFeature	Renal glomerular foam cells			hp.json		http://purl.obolibrary.org/obo/HP_0032583							
HP:0032584	biolink:PhenotypicFeature	Renal interstitial neutrophil infiltration	Increased numbers of neutrophils in the interstitial tissues of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032584							
HP:0032585	biolink:PhenotypicFeature	Renal interstitial eosinophil infiltration	Increased numbers of eosinophils in the interstitial tissues of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032585							
HP:0032586	biolink:PhenotypicFeature	Renal interstitial plasma cell infiltration	Increased numbers of plasma cells in the interstitial tissues of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032586							
HP:0032587	biolink:PhenotypicFeature	Renal interstitial calcium oxalate	The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032587							
HP:0032588	biolink:PhenotypicFeature	Hand apraxia	Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.		hp.json	Lack of purposeful hand use	http://purl.obolibrary.org/obo/HP_0032588							
HP:0032589	biolink:PhenotypicFeature	Renal lymphocytic tubulitis	Infiltration of the renal tubular epithelium by lymphocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0032589							
HP:0032590	biolink:PhenotypicFeature	Renal neutrophilic tubulitis	Infiltration of the renal tubular epithelium by neutrophils.		hp.json		http://purl.obolibrary.org/obo/HP_0032590							
HP:0032591	biolink:PhenotypicFeature	Renal interstitial hemosiderin	Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032591							
HP:0032592	biolink:PhenotypicFeature	Aplasia of the right hemidiaphragm	Congenital absence of the right-sided diaphragm.		hp.json	Right diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0032592							
HP:0032593	biolink:PhenotypicFeature	Myoglobin casts	A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.		hp.json		http://purl.obolibrary.org/obo/HP_0032593							
HP:0032594	biolink:PhenotypicFeature	Renal tubular basement membrane denudation	Naked basement membranes without tubular epithelium.		hp.json	Denuded tubular basement membrane	http://purl.obolibrary.org/obo/HP_0032594							
HP:0032595	biolink:PhenotypicFeature	Renal tubular epithelial cell detachment	Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.		hp.json		http://purl.obolibrary.org/obo/HP_0032595							
HP:0032596	biolink:PhenotypicFeature	Renal tubular epithelial cell cytoplasmic vacuolization	Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.		hp.json		http://purl.obolibrary.org/obo/HP_0032596							
HP:0032597	biolink:PhenotypicFeature	Renal tubular epithelial cell sloughing	At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.		hp.json		http://purl.obolibrary.org/obo/HP_0032597							
HP:0032598	biolink:PhenotypicFeature	Blebbing of apical cytoplasm of renal tubular epithelial cells	Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.		hp.json		http://purl.obolibrary.org/obo/HP_0032598							
HP:0032599	biolink:PhenotypicFeature	Abnormal renal tubular epithelial morphology	Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032599							
HP:0032600	biolink:PhenotypicFeature	Renal tubular epithelial cell hyaline droplets	Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.		hp.json		http://purl.obolibrary.org/obo/HP_0032600							
HP:0032601	biolink:PhenotypicFeature	Multinucleation of renal tubular epithelial cells	Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.		hp.json		http://purl.obolibrary.org/obo/HP_0032601							
HP:0032602	biolink:PhenotypicFeature	Prominent nucleoli of renal tubular epithelial cells	Tubular epithelium with nucleoli clearly visible at 100-fold magnification.		hp.json		http://purl.obolibrary.org/obo/HP_0032602							
HP:0032603	biolink:PhenotypicFeature	Renal tubular epithelial cell simplification	Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.		hp.json		http://purl.obolibrary.org/obo/HP_0032603							
HP:0032604	biolink:PhenotypicFeature	Renal tubular epithelial cell mitosis	Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.		hp.json		http://purl.obolibrary.org/obo/HP_0032604							
HP:0032605	biolink:PhenotypicFeature	High renal tubular epithelial cell N/C ratio	At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.		hp.json	High N/C ratio of renal tubular epithelial cells	http://purl.obolibrary.org/obo/HP_0032605							
HP:0032606	biolink:PhenotypicFeature	Renal tubular epithelial lipofuscin	Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.		hp.json		http://purl.obolibrary.org/obo/HP_0032606							
HP:0032607	biolink:PhenotypicFeature	Renal tubular epithelial cell swelling	Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0032607							
HP:0032608	biolink:PhenotypicFeature	Thyroidization-type tubular atrophy	A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.		hp.json		http://purl.obolibrary.org/obo/HP_0032608							
HP:0032609	biolink:PhenotypicFeature	Endocrine-type tubular atrophy	A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.		hp.json	Endocrinization pattern of tubular atrophy|Renal tubular atrophy, endocrine-type	http://purl.obolibrary.org/obo/HP_0032609							
HP:0032610	biolink:PhenotypicFeature	Tubulointerstitial mycobacterial infiltration	Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.		hp.json	Renal tubulointerstitial mycobacterial organisms	http://purl.obolibrary.org/obo/HP_0032610							
HP:0032611	biolink:PhenotypicFeature	Renal tubular epithelial cell hemosiderin	Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.		hp.json		http://purl.obolibrary.org/obo/HP_0032611							
HP:0032612	biolink:PhenotypicFeature	Triphalangeal hallux	A hallux (big toe) with three phalanges in a single, proximo-distal axis.		hp.json		http://purl.obolibrary.org/obo/HP_0032612							
HP:0032613	biolink:PhenotypicFeature	Renal interstitial amyloid deposits	Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.		hp.json	Renal interstitial amyloid|Renal interstitial amyloid deposition|Renal interstitial amyloidosis	http://purl.obolibrary.org/obo/HP_0032613							
HP:0032614	biolink:PhenotypicFeature	Renal glomerular amyloid deposition	Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.		hp.json		http://purl.obolibrary.org/obo/HP_0032614							
HP:0032615	biolink:PhenotypicFeature	Abnormal diffusion weighted cerebral MRI morphology	A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.		hp.json	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							
HP:0032616	biolink:PhenotypicFeature	Renal interstitial immunoglobulin deposits	Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).		hp.json	Renal interstitial immunoglobulin deposition	http://purl.obolibrary.org/obo/HP_0032616							
HP:0032617	biolink:PhenotypicFeature	Renal interstitial hemorrhage	A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.		hp.json	Renal interstitial haemorrhage	http://purl.obolibrary.org/obo/HP_0032617							
HP:0032618	biolink:PhenotypicFeature	Renal necrosis	Cell death (necrosis) affecting one or more parts of the kidney.		hp.json	Renal parenchymal necrosis	http://purl.obolibrary.org/obo/HP_0032618							
HP:0032619	biolink:PhenotypicFeature	Perinephric abscess	A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).		hp.json		http://purl.obolibrary.org/obo/HP_0032619							
HP:0032620	biolink:PhenotypicFeature	Intrarenal abscess	An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.		hp.json	Renal abscess|Renal parenchymal abcess	http://purl.obolibrary.org/obo/HP_0032620							
HP:0032621	biolink:PhenotypicFeature	Hyperchromasia of renal tubular epithelial cells	At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.		hp.json	Condensed chromatin of renal tubular epithelial cells	http://purl.obolibrary.org/obo/HP_0032621							
HP:0032622	biolink:PhenotypicFeature	Tubular luminal dilatation	Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0032622							
HP:0032623	biolink:PhenotypicFeature	Renal intratubular casts	Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.		hp.json	Tubular casts	http://purl.obolibrary.org/obo/HP_0032623							
HP:0032624	biolink:PhenotypicFeature	Intratubular bilirubin casts	A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).		hp.json		http://purl.obolibrary.org/obo/HP_0032624							
HP:0032625	biolink:PhenotypicFeature	Intratubular erythrocyte cast	Casts that contain red blood cells and are located within the tubuli of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032625							
HP:0032626	biolink:PhenotypicFeature	Intratubular vancomycin casts	Intratubular casts composed of vancomycin aggregates and uromodulin.		hp.json		http://purl.obolibrary.org/obo/HP_0032626							
HP:0032627	biolink:PhenotypicFeature	Intratubular leukocyte casts	Casts that contain white blood cells and are located within the tubuli of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032627							
HP:0032628	biolink:PhenotypicFeature	Renal intratubular crystals			hp.json		http://purl.obolibrary.org/obo/HP_0032628							
HP:0032629	biolink:PhenotypicFeature	Intratubular dihydroxyadenuria crystals	Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.		hp.json		http://purl.obolibrary.org/obo/HP_0032629							
HP:0032630	biolink:PhenotypicFeature	Intratubular light-chain casts	The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.		hp.json		http://purl.obolibrary.org/obo/HP_0032630							
HP:0032631	biolink:PhenotypicFeature	Intratubular hemoglobin casts	A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.		hp.json	Intratubular haemoglobin casts	http://purl.obolibrary.org/obo/HP_0032631							
HP:0032632	biolink:PhenotypicFeature	Renal papillary necrosis	Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.		hp.json		http://purl.obolibrary.org/obo/HP_0032632							
HP:0032633	biolink:PhenotypicFeature	Intratubular hyaline casts	A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.		hp.json	Intratubular Tamm-Horsfall (uromodulin) casts	http://purl.obolibrary.org/obo/HP_0032633							
HP:0032634	biolink:PhenotypicFeature	Intratubular myoglobin cast	Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032634							
HP:0032635	biolink:PhenotypicFeature	Tubulointerstitial microganismal infiltration	Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.		hp.json		http://purl.obolibrary.org/obo/HP_0032635							
HP:0032636	biolink:PhenotypicFeature	Tubulointerstitial viral infiltration	Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.		hp.json	Renal tubulointerstitial viral inclusions	http://purl.obolibrary.org/obo/HP_0032636							
HP:0032637	biolink:PhenotypicFeature	Renal interstitial edema	Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.		hp.json	Renal interstitial oedema	http://purl.obolibrary.org/obo/HP_0032637							
HP:0032638	biolink:PhenotypicFeature	Elevated urine mevalonic acid	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.json	Elevated urine mevalonate|Elevated urine mevalonate levels|Mevalonate aciduria	http://purl.obolibrary.org/obo/HP_0032638							
HP:0032639	biolink:PhenotypicFeature	Elevated leukocyte cystine	An increased concentration of cystine within white blood cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032639							
HP:0032640	biolink:PhenotypicFeature	Elevated circulating CCL18 level	An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.		hp.json	Increased C-C motif chemokine ligand 18 concentration	http://purl.obolibrary.org/obo/HP_0032640							
HP:0032641	biolink:PhenotypicFeature	Renal interstitial granulomas	Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.		hp.json	Renal interstitial granulomata	http://purl.obolibrary.org/obo/HP_0032641							
HP:0032642	biolink:PhenotypicFeature	Renal interstitial necrotizing granulomas	An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.		hp.json	Renal interstitial necrotizing granulomata	http://purl.obolibrary.org/obo/HP_0032642							
HP:0032643	biolink:PhenotypicFeature	Renal interstitial non-necrotizing granulomas	Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.		hp.json	Renal interstitial non-necrotizing granulomata	http://purl.obolibrary.org/obo/HP_0032643							
HP:0032644	biolink:PhenotypicFeature	Renal interstitial deposits	Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032644							
HP:0032645	biolink:PhenotypicFeature	Renal interstitial mononuclear cell infiltration	Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).		hp.json		http://purl.obolibrary.org/obo/HP_0032645							
HP:0032646	biolink:PhenotypicFeature	Renal interstitial xanthogranulomatous inflammation	Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032646							
HP:0032647	biolink:PhenotypicFeature	Renal tubular epithelial cell apoptosis	Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.		hp.json		http://purl.obolibrary.org/obo/HP_0032647							
HP:0032648	biolink:PhenotypicFeature	Tubularization of Bowman capsule	The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.		hp.json		http://purl.obolibrary.org/obo/HP_0032648							
HP:0032649	biolink:PhenotypicFeature	Skewfoot	A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.		hp.json	Skew foot|Skew-foot	http://purl.obolibrary.org/obo/HP_0032649							
HP:0032650	biolink:PhenotypicFeature	Elevated CSF glial fibrillary acidic protein level	Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0032650							
HP:0032651	biolink:PhenotypicFeature	Elevated CSF chitinase-3-like protein 1 level	Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0032651							
HP:0032652	biolink:PhenotypicFeature	Elevated CSF chitotriosidase 1 level	Increased concentration of chitotriosidase 1 in cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0032652							
HP:0032653	biolink:PhenotypicFeature	Elevated lactate:pyruvate ratio	An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032653							
HP:0032654	biolink:PhenotypicFeature	Impaired flow-mediated arterial dilatation	Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.		hp.json	Endothelial dysfunction	http://purl.obolibrary.org/obo/HP_0032654							
HP:0032655	biolink:PhenotypicFeature	Decreased adipose tissue tocopherol level	A reduced concentration of tocopherol in fat tissue.		hp.json		http://purl.obolibrary.org/obo/HP_0032655							
HP:0032656	biolink:PhenotypicFeature	Febrile status epilepticus	A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.		hp.json	Fever-induced status epilepticus	http://purl.obolibrary.org/obo/HP_0032656							
HP:0032657	biolink:PhenotypicFeature	Elevated circulating lyso-globotriaosylsphingosine concentration	An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032657							
HP:0032658	biolink:PhenotypicFeature	Status epilepticus with prominent motor symptoms	Status epilepticus with prominent motor signs during the prolonged seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032658							
HP:0032659	biolink:PhenotypicFeature	Non-convulsive status epilepticus with coma	A type of status epilepticus without prominent motor symptoms and in the presence of coma.		hp.json	Subtle status epilepticus	http://purl.obolibrary.org/obo/HP_0032659							
HP:0032660	biolink:PhenotypicFeature	Convulsive status epilepticus	A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment:  source:  seeAlso: Tonic-clonic status epilepticus		hp.json	Tonic-clonic status epilepticus	http://purl.obolibrary.org/obo/HP_0032660							
HP:0032661	biolink:PhenotypicFeature	Generalized convulsive status epilepticus	A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.		hp.json	Generalised convulsive status epilepticus	http://purl.obolibrary.org/obo/HP_0032661							
HP:0032662	biolink:PhenotypicFeature	Focal-onset seizure evolving into bilateral convulsive status epilepticus	A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.		hp.json	Focal-onset seizure evolving into generalised convulsive status epilepticus|Secondarily generalised convulsive status epilepticus|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							
HP:0032663	biolink:PhenotypicFeature	Focal motor status epilepticus	Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.		hp.json		http://purl.obolibrary.org/obo/HP_0032663							
HP:0032664	biolink:PhenotypicFeature	Adversive status epilepticus	A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.		hp.json		http://purl.obolibrary.org/obo/HP_0032664							
HP:0032665	biolink:PhenotypicFeature	Repeated focal motor seizures	A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.		hp.json	Jacksonian status epilepticus	http://purl.obolibrary.org/obo/HP_0032665							
HP:0032666	biolink:PhenotypicFeature	Hyperkinetic status epilepticus	Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.		hp.json		http://purl.obolibrary.org/obo/HP_0032666							
HP:0032667	biolink:PhenotypicFeature	Myoclonic status epilepticus	A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.		hp.json		http://purl.obolibrary.org/obo/HP_0032667							
HP:0032668	biolink:PhenotypicFeature	Myoclonic status epilepticus without coma	A type of myoclonic status epilepticus in the absence of coma.		hp.json		http://purl.obolibrary.org/obo/HP_0032668							
HP:0032669	biolink:PhenotypicFeature	Myoclonic status epilepticus with coma	A type of myoclonic status epilepticus in the presence of coma.		hp.json		http://purl.obolibrary.org/obo/HP_0032669							
HP:0032670	biolink:PhenotypicFeature	Tonic status epilepticus	Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.		hp.json		http://purl.obolibrary.org/obo/HP_0032670							
HP:0032671	biolink:PhenotypicFeature	Non-convulsive status epilepticus without coma	A type of status epilepticus without prominent motor symptoms in the absence of coma.		hp.json		http://purl.obolibrary.org/obo/HP_0032671							
HP:0032672	biolink:PhenotypicFeature	Autonomic status epilepticus	Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.		hp.json		http://purl.obolibrary.org/obo/HP_0032672							
HP:0032673	biolink:PhenotypicFeature	Focal non-convulsive status epilepticus without coma	Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032673							
HP:0032674	biolink:PhenotypicFeature	Cutaneous wound	A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.		hp.json	Skin wound	http://purl.obolibrary.org/obo/HP_0032674							
HP:0032675	biolink:PhenotypicFeature	Acute cutaneous wound	A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.		hp.json		http://purl.obolibrary.org/obo/HP_0032675							
HP:0032676	biolink:PhenotypicFeature	Chronic cutaneous wound	A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.		hp.json	Chronic nonhealing cutaneous wound	http://purl.obolibrary.org/obo/HP_0032676							
HP:0032677	biolink:PhenotypicFeature	Generalized-onset motor seizure	A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.		hp.json	Generalised onset motor seizure|Generalised-onset motor seizure|Generalized onset motor seizure	http://purl.obolibrary.org/obo/HP_0032677							
HP:0032678	biolink:PhenotypicFeature	Eyelid myoclonia seizure	An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.		hp.json		http://purl.obolibrary.org/obo/HP_0032678							
HP:0032679	biolink:PhenotypicFeature	Focal non-motor seizure	A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.		hp.json	Focal seizure without motor onset|Partial seizure without motor onset	http://purl.obolibrary.org/obo/HP_0032679							
HP:0032680	biolink:PhenotypicFeature	Focal cognitive seizure	A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.		hp.json	Cognitive aura|Cognitive seizure|Partial cognitive seizure	http://purl.obolibrary.org/obo/HP_0032680							
HP:0032681	biolink:PhenotypicFeature	Focal aware cognitive seizure	A focal aware cognitive seizure during which awareness is retained throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032681							
HP:0032682	biolink:PhenotypicFeature	Focal aware non-motor seizure	A focal non-motor seizure in which awareness is retained throughout the seizure.		hp.json	Focal non-motor aware seizure	http://purl.obolibrary.org/obo/HP_0032682							
HP:0032683	biolink:PhenotypicFeature	obsolete Focal aware cognitive seizure with impaired attention			hp.json		http://purl.obolibrary.org/obo/HP_0032683							
HP:0032684	biolink:PhenotypicFeature	Focal aware cognitive seizure with auditory agnosia	A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032684							
HP:0032685	biolink:PhenotypicFeature	Focal cognitive seizure with auditory agnosia	A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.		hp.json		http://purl.obolibrary.org/obo/HP_0032685							
HP:0032686	biolink:PhenotypicFeature	Focal aware cognitive seizure with memory impairment	A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032686							
HP:0032687	biolink:PhenotypicFeature	Focal cognitive seizure with memory impairment	A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).		hp.json	Amnestic aura|Amnestic seizure	http://purl.obolibrary.org/obo/HP_0032687							
HP:0032688	biolink:PhenotypicFeature	Focal aware cognitive seizure with dissociation	A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032688							
HP:0032689	biolink:PhenotypicFeature	Focal cognitive seizure with dissociation	A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032689							
HP:0032690	biolink:PhenotypicFeature	Focal aware cognitive seizure with dyscalculia/acalculia	A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032690							
HP:0032691	biolink:PhenotypicFeature	Focal cognitive seizure with dyscalculia/acalculia	A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032691							
HP:0032692	biolink:PhenotypicFeature	Focal cognitive seizure with forced thinking	A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032692							
HP:0032693	biolink:PhenotypicFeature	Focal cognitive seizure with neglect	A focal cognitive seizure characterized by neglect as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032693							
HP:0032694	biolink:PhenotypicFeature	Focal cognitive seizure with dyslexia/alexia	A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032694							
HP:0032695	biolink:PhenotypicFeature	obsolete Illusory auras			hp.json		http://purl.obolibrary.org/obo/HP_0032695							
HP:0032696	biolink:PhenotypicFeature	Focal cognitive seizure with receptive dysphasia/aphasia	A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032696							
HP:0032697	biolink:PhenotypicFeature	obsolete Focal cognitive seizure with deja vu/jamais vu	A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032697							
HP:0032698	biolink:PhenotypicFeature	Focal cognitive seizure with conduction dysphasia/aphasia	A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032698							
HP:0032699	biolink:PhenotypicFeature	Focal cognitive seizure with dysgraphia/agraphia	A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032699							
HP:0032700	biolink:PhenotypicFeature	Focal cognitive seizure with left-right confusion	A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032700							
HP:0032701	biolink:PhenotypicFeature	Focal cognitive seizure with anomia	A focal cognitive seizure characterized by anomia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032701							
HP:0032702	biolink:PhenotypicFeature	Focal cognitive seizure with expressive dysphasia/aphasia	A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032702							
HP:0032703	biolink:PhenotypicFeature	obsolete Hallucinatory aura			hp.json		http://purl.obolibrary.org/obo/HP_0032703							
HP:0032704	biolink:PhenotypicFeature	Focal aware cognitive seizure with illusion	A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032704							
HP:0032705	biolink:PhenotypicFeature	Focal aware cognitive seizure with forced thinking	A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032705							
HP:0032706	biolink:PhenotypicFeature	Focal aware cognitive seizure with left-right confusion	A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032706							
HP:0032707	biolink:PhenotypicFeature	Focal aware cognitive seizure with dyslexia/alexia	A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032707							
HP:0032708	biolink:PhenotypicFeature	Focal aware cognitive seizure with anomia	A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032708							
HP:0032709	biolink:PhenotypicFeature	Focal aware cognitive seizure with dysgraphia/agraphia	A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032709							
HP:0032710	biolink:PhenotypicFeature	Focal aware cognitive seizure with receptive dysphasia/aphasia	A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032710							
HP:0032711	biolink:PhenotypicFeature	Focal aware clonic seizure	A type of focal clonic seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032711							
HP:0032712	biolink:PhenotypicFeature	Focal impaired awareness motor seizure	A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json	Focal motor impaired awareness seizure	http://purl.obolibrary.org/obo/HP_0032712							
HP:0032713	biolink:PhenotypicFeature	Focal impaired awareness motor seizure with version	A focal motor seizure with version characterized by impaired awareness at some point during the seizure.		hp.json	Focal motor impaired awareness seizure with version	http://purl.obolibrary.org/obo/HP_0032713							
HP:0032714	biolink:PhenotypicFeature	Focal impaired awareness bilateral motor seizure	A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032714							
HP:0032715	biolink:PhenotypicFeature	Focal bilateral motor seizure	A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032715							
HP:0032716	biolink:PhenotypicFeature	Focal impaired awareness non-motor seizure	A focal non-motor seizure characterized by impaired awareness at some point during the seizure.		hp.json	Focal non-motor impaired awareness seizure	http://purl.obolibrary.org/obo/HP_0032716							
HP:0032717	biolink:PhenotypicFeature	Focal impaired awareness motor seizure with dystonia	A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.		hp.json	Focal motor impaired awareness seizure with dystonia	http://purl.obolibrary.org/obo/HP_0032717							
HP:0032718	biolink:PhenotypicFeature	Focal motor seizure with dystonia	A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.		hp.json		http://purl.obolibrary.org/obo/HP_0032718							
HP:0032719	biolink:PhenotypicFeature	Focal impaired awareness motor seizure with dysarthria/anarthria	A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.		hp.json	Focal motor impaired awareness seizure with dysarthria/anarthria	http://purl.obolibrary.org/obo/HP_0032719							
HP:0032720	biolink:PhenotypicFeature	Focal motor seizure with dysarthria/anarthria	A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.		hp.json		http://purl.obolibrary.org/obo/HP_0032720							
HP:0032721	biolink:PhenotypicFeature	Focal motor seizure with paresis/paralysis	A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032721							
HP:0032722	biolink:PhenotypicFeature	Focal aware tonic seizure	A type of focal tonic seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032722							
HP:0032723	biolink:PhenotypicFeature	Focal aware motor seizure with dystonia	A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.		hp.json	Focal motor aware seizure with dystonia	http://purl.obolibrary.org/obo/HP_0032723							
HP:0032724	biolink:PhenotypicFeature	Focal impaired awareness tonic seizure	A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032724							
HP:0032725	biolink:PhenotypicFeature	Focal impaired awareness clonic seizure	A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032725							
HP:0032726	biolink:PhenotypicFeature	Focal impaired awareness hyperkinetic seizure	A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032726							
HP:0032727	biolink:PhenotypicFeature	Focal emotional seizure with agitation	Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.		hp.json		http://purl.obolibrary.org/obo/HP_0032727							
HP:0032728	biolink:PhenotypicFeature	Focal impaired awareness atonic seizure	A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032728							
HP:0032729	biolink:PhenotypicFeature	Focal emotional seizure with pleasure	Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.		hp.json		http://purl.obolibrary.org/obo/HP_0032729							
HP:0032730	biolink:PhenotypicFeature	Focal impaired awareness myoclonic seizure	A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032730							
HP:0032731	biolink:PhenotypicFeature	Focal aware hyperkinetic seizure	A type of focal hypermotor seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032731							
HP:0032732	biolink:PhenotypicFeature	Focal aware motor seizure with paresis/paralysis	A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.		hp.json	Focal motor aware seizure with paresis/paralysis	http://purl.obolibrary.org/obo/HP_0032732							
HP:0032733	biolink:PhenotypicFeature	Focal aware motor seizure with dysarthria/anarthria	A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.		hp.json	Focal motor aware seizure with dysarthria/anarthria	http://purl.obolibrary.org/obo/HP_0032733							
HP:0032734	biolink:PhenotypicFeature	Focal aware emotional seizure	A focal emotional seizure during which awareness is retained throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032734							
HP:0032735	biolink:PhenotypicFeature	Focal aware emotional seizure with anger	Focal emotional seizure with anger in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032735							
HP:0032736	biolink:PhenotypicFeature	Focal emotional seizure with anger	Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.		hp.json		http://purl.obolibrary.org/obo/HP_0032736							
HP:0032737	biolink:PhenotypicFeature	Focal emotional seizure with paranoia	Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032737							
HP:0032738	biolink:PhenotypicFeature	Focal aware emotional seizure with fear/anxiety/panic	Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032738							
HP:0032739	biolink:PhenotypicFeature	Focal emotional seizure with fear/anxiety/panic	Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.		hp.json		http://purl.obolibrary.org/obo/HP_0032739							
HP:0032740	biolink:PhenotypicFeature	Focal aware autonomic seizure	A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.		hp.json	Localised autonomic seizures without altered responsiveness|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							
HP:0032741	biolink:PhenotypicFeature	Focal aware emotional seizure with paranoia	Focal emotional seizure with paranoia in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032741							
HP:0032742	biolink:PhenotypicFeature	Focal aware emotional seizure with pleasure	Focal emotional seizure with pleasure in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032742							
HP:0032743	biolink:PhenotypicFeature	Focal aware emotional seizure with crying	Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032743							
HP:0032744	biolink:PhenotypicFeature	Focal aware emotional seizure with agitation	Focal emotional seizure with agitation in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032744							
HP:0032745	biolink:PhenotypicFeature	Focal aware emotional seizure with laughing	Focal emotional seizure with laughing in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032745							
HP:0032746	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure	A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032746							
HP:0032747	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with pleasure	Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032747							
HP:0032748	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with anger	Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032748							
HP:0032749	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with paranoia	Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032749							
HP:0032750	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with laughing	Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032750							
HP:0032751	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with crying	Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032751							
HP:0032752	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with fear/anxiety/panic	Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032752							
HP:0032753	biolink:PhenotypicFeature	Focal impaired awareness emotional seizure with agitation	A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032753							
HP:0032754	biolink:PhenotypicFeature	Focal aware sensory seizure	A focal sensory seizure during which awareness is retained throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032754							
HP:0032755	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure	A focal autonomic seizure characterised by impaired awareness at some point within the seizure.		hp.json	Localised autonomic seizure with altered responsiveness|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							
HP:0032756	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure	A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032756							
HP:0032757	biolink:PhenotypicFeature	Focal aware hemiclonic seizure	A focal hemiclonic seizure in which awareness is retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032757							
HP:0032758	biolink:PhenotypicFeature	Focal aware myoclonic seizure	A type of focal myoclonic seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032758							
HP:0032759	biolink:PhenotypicFeature	Focal sensory seizure with vestibular features	A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.		hp.json	Focal vestibular seizure|Partial vestibular seizure|Vestibular aura	http://purl.obolibrary.org/obo/HP_0032759							
HP:0032760	biolink:PhenotypicFeature	Focal sensory seizure with hot-cold sensations	A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032760							
HP:0032761	biolink:PhenotypicFeature	Focal aware autonomic seizure with pallor/flushing	A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032761							
HP:0032762	biolink:PhenotypicFeature	Focal autonomic seizure with pallor/flushing	A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032762							
HP:0032763	biolink:PhenotypicFeature	Focal autonomic seizure with pupillary dilation/constriction	A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032763							
HP:0032764	biolink:PhenotypicFeature	Focal autonomic seizure with erection	A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032764							
HP:0032765	biolink:PhenotypicFeature	Focal autonomic seizure with urge to urinate/defecate	A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032765							
HP:0032766	biolink:PhenotypicFeature	Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration	A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032766							
HP:0032767	biolink:PhenotypicFeature	Focal autonomic seizure with piloerection	A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032767							
HP:0032768	biolink:PhenotypicFeature	Focal aware autonomic seizure with pupillary dilation/constriction	A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032768							
HP:0032769	biolink:PhenotypicFeature	Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration	An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032769							
HP:0032770	biolink:PhenotypicFeature	Focal aware autonomic seizure with erection	A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032770							
HP:0032771	biolink:PhenotypicFeature	Focal autonomic seizure with lacrimation	A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032771							
HP:0032772	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with piloerection	A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032772							
HP:0032773	biolink:PhenotypicFeature	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.		hp.json		http://purl.obolibrary.org/obo/HP_0032773							
HP:0032774	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with urge to urinate/defecate	A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032774							
HP:0032775	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration	An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032775							
HP:0032776	biolink:PhenotypicFeature	Focal aware autonomic seizure with lacrimation			hp.json		http://purl.obolibrary.org/obo/HP_0032776							
HP:0032777	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with pallor/flushing	A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032777							
HP:0032778	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032778							
HP:0032779	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with pupillary dilation/constriction	A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032779							
HP:0032780	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with erection	A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032780							
HP:0032781	biolink:PhenotypicFeature	Focal aware autonomic seizure with urge to urinate/defecate	A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032781							
HP:0032782	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with lacrimation	A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032782							
HP:0032783	biolink:PhenotypicFeature	Focal aware autonomic seizure with piloerection	A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032783							
HP:0032784	biolink:PhenotypicFeature	Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole	An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032784							
HP:0032785	biolink:PhenotypicFeature	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032785							
HP:0032786	biolink:PhenotypicFeature	Migrating focal seizure	A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.		hp.json	Migrating partial seizure	http://purl.obolibrary.org/obo/HP_0032786							
HP:0032787	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure	A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032787							
HP:0032788	biolink:PhenotypicFeature	Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole	A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032788							
HP:0032789	biolink:PhenotypicFeature	Focal aware behavior arrest seizure	A focal behavior arrest seizure characterised by retained awareness throughout the seizure.		hp.json	Focal aware behaviour arrest seizure	http://purl.obolibrary.org/obo/HP_0032789							
HP:0032790	biolink:PhenotypicFeature	Focal impaired awareness behavior arrest seizure	A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.		hp.json	Focal impaired awareness behaviour arrest seizure	http://purl.obolibrary.org/obo/HP_0032790							
HP:0032791	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with anomia	A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032791							
HP:0032792	biolink:PhenotypicFeature	Tonic seizure	A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.		hp.json		http://purl.obolibrary.org/obo/HP_0032792							
HP:0032793	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia	A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032793							
HP:0032794	biolink:PhenotypicFeature	Myoclonic seizure	A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.		hp.json		http://purl.obolibrary.org/obo/HP_0032794							
HP:0032795	biolink:PhenotypicFeature	Generalized myoclonic-tonic-clonic seizure	A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.		hp.json	generalised onset myoclonic-tonic-clonic seizure|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							
HP:0032796	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with left-right confusion	A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032796							
HP:0032797	biolink:PhenotypicFeature	Focal aware sensory seizure with olfactory features	Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.		hp.json		http://purl.obolibrary.org/obo/HP_0032797							
HP:0032798	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with neglect	A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032798							
HP:0032799	biolink:PhenotypicFeature	Focal impaired awareness hemiclonic seizure	A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032799							
HP:0032800	biolink:PhenotypicFeature	Focal aware sensory seizure with vestibular features	A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.		hp.json		http://purl.obolibrary.org/obo/HP_0032800							
HP:0032801	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with memory impairment	A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032801							
HP:0032802	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with dyscalculia/acalculia	A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032802							
HP:0032803	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with dysgraphia/agraphia	A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032803							
HP:0032804	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with olfactory features	A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032804							
HP:0032805	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with vestibular features	A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032805							
HP:0032806	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with visual features	A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032806							
HP:0032807	biolink:PhenotypicFeature	Neonatal seizure	A seizure occurring within the neonatal period (28 days beyond the full term date).		hp.json		http://purl.obolibrary.org/obo/HP_0032807							
HP:0032808	biolink:PhenotypicFeature	Neonatal seizure with electrographic correlate	Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032808							
HP:0032809	biolink:PhenotypicFeature	Neonatal electro-clinical seizure	Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032809							
HP:0032810	biolink:PhenotypicFeature	Focal sensory seizure with cephalic sensation	A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.		hp.json	Cephalic aura|Focal seizure with cephalic sensation|Partial seizure with cephalic sensation	http://purl.obolibrary.org/obo/HP_0032810							
HP:0032811	biolink:PhenotypicFeature	Neonatal electrographic only seizure	Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.		hp.json		http://purl.obolibrary.org/obo/HP_0032811							
HP:0032812	biolink:PhenotypicFeature	Neonatal electro-clinical non-motor seizure			hp.json		http://purl.obolibrary.org/obo/HP_0032812							
HP:0032813	biolink:PhenotypicFeature	Neonatal electro-clinical motor seizure	Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.		hp.json		http://purl.obolibrary.org/obo/HP_0032813							
HP:0032814	biolink:PhenotypicFeature	Neonatal electro-clinical clonic seizure	Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.		hp.json	Neonatal electroclinical clonic seizure	http://purl.obolibrary.org/obo/HP_0032814							
HP:0032815	biolink:PhenotypicFeature	Neonatal electro-clinical myoclonic seizure	Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).		hp.json	Neonatal electroclinical myoclonic seizure	http://purl.obolibrary.org/obo/HP_0032815							
HP:0032816	biolink:PhenotypicFeature	Neonatal multifocal myoclonic seizure	Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites.		hp.json		http://purl.obolibrary.org/obo/HP_0032816							
HP:0032817	biolink:PhenotypicFeature	Neonatal focal myoclonic seizure	Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.		hp.json		http://purl.obolibrary.org/obo/HP_0032817							
HP:0032818	biolink:PhenotypicFeature	Neonatal focal clonic seizure	Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.		hp.json		http://purl.obolibrary.org/obo/HP_0032818							
HP:0032819	biolink:PhenotypicFeature	Neonatal bilateral clonic seizure	Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.		hp.json		http://purl.obolibrary.org/obo/HP_0032819							
HP:0032820	biolink:PhenotypicFeature	Neonatal multifocal clonic seizure	Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.		hp.json		http://purl.obolibrary.org/obo/HP_0032820							
HP:0032821	biolink:PhenotypicFeature	Neonatal electro-clinical tonic seizure	Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.		hp.json		http://purl.obolibrary.org/obo/HP_0032821							
HP:0032822	biolink:PhenotypicFeature	Neonatal electro-clinical autonomic seizure	Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.		hp.json		http://purl.obolibrary.org/obo/HP_0032822							
HP:0032823	biolink:PhenotypicFeature	Neonatal electro-clinical seizure with behavior arrest	Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.		hp.json	Neonatal electro-clinical seizure with behaviour arrest|Neonatal electroclinical seizure with behavioural arrest	http://purl.obolibrary.org/obo/HP_0032823							
HP:0032824	biolink:PhenotypicFeature	Neonatal focal tonic seizure	Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.		hp.json		http://purl.obolibrary.org/obo/HP_0032824							
HP:0032825	biolink:PhenotypicFeature	Neonatal electro-clinical sequential seizure	Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.		hp.json	Neonatal electroclinical sequential seizure	http://purl.obolibrary.org/obo/HP_0032825							
HP:0032826	biolink:PhenotypicFeature	Focal neonatal sequential seizure	Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.		hp.json		http://purl.obolibrary.org/obo/HP_0032826							
HP:0032827	biolink:PhenotypicFeature	Multifocal neonatal sequential seizure	Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.		hp.json		http://purl.obolibrary.org/obo/HP_0032827							
HP:0032828	biolink:PhenotypicFeature	Neonatal bilateral symmetric tonic seizure	Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.		hp.json		http://purl.obolibrary.org/obo/HP_0032828							
HP:0032829	biolink:PhenotypicFeature	Neonatal electro-clinical motor seizure with automatism	Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features.		hp.json	Neonatal electroclinical motor seizure with automatism	http://purl.obolibrary.org/obo/HP_0032829							
HP:0032830	biolink:PhenotypicFeature	Neonatal seizure with bilateral asymmetric automatism	Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.		hp.json		http://purl.obolibrary.org/obo/HP_0032830							
HP:0032831	biolink:PhenotypicFeature	Neonatal bilateral asymmetric tonic seizure	Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.		hp.json		http://purl.obolibrary.org/obo/HP_0032831							
HP:0032832	biolink:PhenotypicFeature	Neonatal bilateral asymmetric myoclonic seizure	Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically.		hp.json		http://purl.obolibrary.org/obo/HP_0032832							
HP:0032833	biolink:PhenotypicFeature	Neonatal epileptic spasm	A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.		hp.json		http://purl.obolibrary.org/obo/HP_0032833							
HP:0032834	biolink:PhenotypicFeature	Neonatal seizure with unilateral automatism	Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0032834							
HP:0032835	biolink:PhenotypicFeature	Neonatal seizure with bilateral symmetric automatism	Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.		hp.json		http://purl.obolibrary.org/obo/HP_0032835							
HP:0032836	biolink:PhenotypicFeature	Neonatal bilateral symmetric myoclonic seizure	Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.		hp.json		http://purl.obolibrary.org/obo/HP_0032836							
HP:0032837	biolink:PhenotypicFeature	Bilateral asymmetric neonatal sequential seizure	Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.		hp.json		http://purl.obolibrary.org/obo/HP_0032837							
HP:0032838	biolink:PhenotypicFeature	Neonatal unilateral epileptic spasm	Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0032838							
HP:0032839	biolink:PhenotypicFeature	Bilateral symmetric neonatal sequential seizure	Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.		hp.json		http://purl.obolibrary.org/obo/HP_0032839							
HP:0032840	biolink:PhenotypicFeature	Neonatal bilateral symmetric epileptic spasm	Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0032840							
HP:0032841	biolink:PhenotypicFeature	Neonatal bilateral asymmetric epileptic spasm	Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0032841							
HP:0032842	biolink:PhenotypicFeature	Generalized-onset epileptic spasm	A type of epileptic spasm of generalized onset.		hp.json	Generalised onset epileptic spasm|Generalised-onset epileptic spasm|Generalized onset epileptic spasm	http://purl.obolibrary.org/obo/HP_0032842							
HP:0032843	biolink:PhenotypicFeature	Focal-onset epileptic spasm	A type of epileptic spasm of focal onset.		hp.json	Focal onset epileptic spasm	http://purl.obolibrary.org/obo/HP_0032843							
HP:0032844	biolink:PhenotypicFeature	Focal impaired awareness epileptic spasm	A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032844							
HP:0032845	biolink:PhenotypicFeature	Focal aware epileptic spasm	A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032845							
HP:0032846	biolink:PhenotypicFeature	Focal motor seizure with negative myoclonus	A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032846							
HP:0032847	biolink:PhenotypicFeature	Focal impaired awareness hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032847							
HP:0032848	biolink:PhenotypicFeature	Focal aware cognitive seizure with neglect	A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032848							
HP:0032849	biolink:PhenotypicFeature	Aphasic status epilepticus	Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.		hp.json		http://purl.obolibrary.org/obo/HP_0032849							
HP:0032850	biolink:PhenotypicFeature	Focal aware cognitive seizure with expressive dysphasia/aphasia	A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032850							
HP:0032851	biolink:PhenotypicFeature	Focal aware sensory seizure with visual features	A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.		hp.json		http://purl.obolibrary.org/obo/HP_0032851							
HP:0032852	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia	A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032852							
HP:0032853	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with hot-cold sensations	A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032853							
HP:0032854	biolink:PhenotypicFeature	Focal aware hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032854							
HP:0032855	biolink:PhenotypicFeature	Photosensitive myoclonic-tonic-clonic seizure	Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.		hp.json	Photically induced myoclonic-tonic-clonic seizure	http://purl.obolibrary.org/obo/HP_0032855							
HP:0032856	biolink:PhenotypicFeature	Focal aware bilateral motor seizure	A type of focal bilateral motor seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032856							
HP:0032857	biolink:PhenotypicFeature	Focal aware motor seizure with negative myoclonus	A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.		hp.json	Focal motor aware seizure with negative myoclonus	http://purl.obolibrary.org/obo/HP_0032857							
HP:0032858	biolink:PhenotypicFeature	Focal impaired awareness motor seizure with negative myoclonus	A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.		hp.json	Focal motor impaired awareness seizure with negative myoclonus	http://purl.obolibrary.org/obo/HP_0032858							
HP:0032859	biolink:PhenotypicFeature	Focal impaired awareness motor seizure with paresis/paralysis	A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.		hp.json	Focal motor impaired awareness seizure with paresis/paralysis	http://purl.obolibrary.org/obo/HP_0032859							
HP:0032860	biolink:PhenotypicFeature	Generalized non-convulsive status epilepticus without coma	Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.		hp.json	Absence status epilepticus|Generalised non-convulsive status epilepticus without coma|Petit mal status epilepticus	http://purl.obolibrary.org/obo/HP_0032860							
HP:0032861	biolink:PhenotypicFeature	Focal non-convulsive status epilepticus with impairment of consciousness	Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.		hp.json	Focal non-convulsive status epilepticus with impairment of awareness	http://purl.obolibrary.org/obo/HP_0032861							
HP:0032862	biolink:PhenotypicFeature	Status epilepticus with ictal paresis	A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.		hp.json	Focal inhibitory status epilepticus	http://purl.obolibrary.org/obo/HP_0032862							
HP:0032863	biolink:PhenotypicFeature	Typical absence status epilepticus	Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.		hp.json	Simple absence status epilepticus	http://purl.obolibrary.org/obo/HP_0032863							
HP:0032864	biolink:PhenotypicFeature	Focal aware sensory seizure with auditory features	A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032864							
HP:0032865	biolink:PhenotypicFeature	Myoclonic absence status epilepticus	Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.		hp.json		http://purl.obolibrary.org/obo/HP_0032865							
HP:0032866	biolink:PhenotypicFeature	Oculoclonic status epilepticus	A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.		hp.json		http://purl.obolibrary.org/obo/HP_0032866							
HP:0032867	biolink:PhenotypicFeature	Refractory status epilepticus	Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.		hp.json		http://purl.obolibrary.org/obo/HP_0032867							
HP:0032868	biolink:PhenotypicFeature	Super-refractory status epilepticus	Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.		hp.json		http://purl.obolibrary.org/obo/HP_0032868							
HP:0032869	biolink:PhenotypicFeature	Focal non-convulsive status epilepticus without impairment of consciousness	Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.		hp.json	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							
HP:0032870	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with dyslexia/alexia	A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032870							
HP:0032871	biolink:PhenotypicFeature	Focal aware cognitive seizure with hallucination	A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032871							
HP:0032872	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with illusion	A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032872							
HP:0032873	biolink:PhenotypicFeature	Focal aware sensory seizure with cephalic sensation	A seizure characterized by a sensation in the head such as light-headedness or headache.		hp.json		http://purl.obolibrary.org/obo/HP_0032873							
HP:0032874	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with auditory agnosia	A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032874							
HP:0032875	biolink:PhenotypicFeature	obsolete Focal impaired awareness cognitive seizure with impaired responsiveness			hp.json		http://purl.obolibrary.org/obo/HP_0032875							
HP:0032876	biolink:PhenotypicFeature	Focal aware cognitive seizure with conduction dysphasia/aphasia	A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032876							
HP:0032877	biolink:PhenotypicFeature	Focal aware sensory seizure with hot-cold sensations	A seizure characterized by sensations of feeling hot and then cold.		hp.json		http://purl.obolibrary.org/obo/HP_0032877							
HP:0032878	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with cephalic sensation	A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032878							
HP:0032879	biolink:PhenotypicFeature	Focal impaired awareness seizure with dissociation at onset	A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032879							
HP:0032880	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with auditory features	A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032880							
HP:0032881	biolink:PhenotypicFeature	obsolete Focal aware cognitive seizure with impaired responsiveness			hp.json		http://purl.obolibrary.org/obo/HP_0032881							
HP:0032882	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with deja vu/jamais vu	A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032882							
HP:0032883	biolink:PhenotypicFeature	Focal aware cognitive seizure with deja vu/jamais vu	A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032883							
HP:0032884	biolink:PhenotypicFeature	Focal aware sensory seizure with somatosensory features	A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032884							
HP:0032885	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with hallucination	A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032885							
HP:0032886	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia	A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032886							
HP:0032887	biolink:PhenotypicFeature	Generalized atonic seizure	Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.		hp.json	Generalised atonic seizure	http://purl.obolibrary.org/obo/HP_0032887							
HP:0032888	biolink:PhenotypicFeature	Focal impaired awareness cognitive seizure with forced thinking	A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032888							
HP:0032889	biolink:PhenotypicFeature	Focal aware sensory seizure with gustatory features	A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.		hp.json		http://purl.obolibrary.org/obo/HP_0032889							
HP:0032890	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with somatosensory features	A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032890							
HP:0032891	biolink:PhenotypicFeature	Focal aware motor seizure with version	A focal motor seizure with version characterized by retained awareness throughout the seizure.		hp.json	Focal motor aware seizure with version	http://purl.obolibrary.org/obo/HP_0032891							
HP:0032892	biolink:PhenotypicFeature	Infection-related seizure	Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.		hp.json		http://purl.obolibrary.org/obo/HP_0032892							
HP:0032893	biolink:PhenotypicFeature	Gastroenteritis-related afebrile seizure	Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.		hp.json		http://purl.obolibrary.org/obo/HP_0032893							
HP:0032894	biolink:PhenotypicFeature	Seizure precipitated by febrile infection	Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.		hp.json	Fever induced seizure	http://purl.obolibrary.org/obo/HP_0032894							
HP:0032895	biolink:PhenotypicFeature	Febrile seizure outside the age of 3 months to 6 years	Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032895							
HP:0032896	biolink:PhenotypicFeature	Music-induced seizure	Seizure precipitated by listening to music or other complex sounds.		hp.json		http://purl.obolibrary.org/obo/HP_0032896							
HP:0032897	biolink:PhenotypicFeature	Focal impaired awareness sensory seizure with gustatory features	A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032897							
HP:0032898	biolink:PhenotypicFeature	Focal automatism seizure	A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.		hp.json		http://purl.obolibrary.org/obo/HP_0032898							
HP:0032899	biolink:PhenotypicFeature	Focal orofacial automatism seizure	A type of focal automatism seizure characterized by orofacial automatisms at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032899							
HP:0032900	biolink:PhenotypicFeature	Focal manual automatism seizure	A type of focal automatism seizure characterized by manual automatisms at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032900							
HP:0032901	biolink:PhenotypicFeature	Focal pedal automatism seizure	A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.		hp.json		http://purl.obolibrary.org/obo/HP_0032901							
HP:0032902	biolink:PhenotypicFeature	Focal perseverative automatism seizure	A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032902							
HP:0032903	biolink:PhenotypicFeature	Focal vocal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032903							
HP:0032904	biolink:PhenotypicFeature	Focal verbal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032904							
HP:0032905	biolink:PhenotypicFeature	Focal sexual automatism seizure	A type of focal automatism seizure characterized by involuntary sexual behavior at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032905							
HP:0032906	biolink:PhenotypicFeature	Focal head nodding automatism seizure	A type of focal automatism seizure characterized by involuntary head nodding at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032906							
HP:0032907	biolink:PhenotypicFeature	Focal undressing automatism seizure	A type of focal automatism seizure characterized by involuntary undressing at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032907							
HP:0032908	biolink:PhenotypicFeature	Focal aware undressing automatism seizure	A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032908							
HP:0032909	biolink:PhenotypicFeature	Focal impaired awareness automatism seizure	A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0032909							
HP:0032910	biolink:PhenotypicFeature	Focal aware automatism seizure	A type of focal automatism seizure during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032910							
HP:0032911	biolink:PhenotypicFeature	Focal aware orofacial automatism seizure	A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032911							
HP:0032912	biolink:PhenotypicFeature	Focal aware manual automatism seizure	A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032912							
HP:0032913	biolink:PhenotypicFeature	Focal aware pedal automatism seizure	A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.		hp.json		http://purl.obolibrary.org/obo/HP_0032913							
HP:0032914	biolink:PhenotypicFeature	Focal aware perseverative automatism seizure	A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032914							
HP:0032915	biolink:PhenotypicFeature	Focal aware vocal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032915							
HP:0032916	biolink:PhenotypicFeature	Focal aware verbal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032916							
HP:0032917	biolink:PhenotypicFeature	Focal aware sexual automatism seizure	A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032917							
HP:0032918	biolink:PhenotypicFeature	Focal impaired awareness orofacial automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032918							
HP:0032919	biolink:PhenotypicFeature	Focal aware head nodding automatism seizure	A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.		hp.json		http://purl.obolibrary.org/obo/HP_0032919							
HP:0032920	biolink:PhenotypicFeature	Focal impaired awareness manual automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032920							
HP:0032921	biolink:PhenotypicFeature	Focal impaired awareness pedal automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.		hp.json		http://purl.obolibrary.org/obo/HP_0032921							
HP:0032922	biolink:PhenotypicFeature	Focal impaired awareness perseverative automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032922							
HP:0032923	biolink:PhenotypicFeature	Focal impaired awareness vocal automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032923							
HP:0032924	biolink:PhenotypicFeature	Focal impaired awareness verbal automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032924							
HP:0032925	biolink:PhenotypicFeature	Focal impaired awareness sexual automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032925							
HP:0032926	biolink:PhenotypicFeature	Focal impaired awareness head nodding automatism seizure	A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032926							
HP:0032927	biolink:PhenotypicFeature	Focal impaired awareness undressing automatism seizure	A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.		hp.json		http://purl.obolibrary.org/obo/HP_0032927							
HP:0032928	biolink:PhenotypicFeature	Elevated CSF neurofilamant light chain	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.json		http://purl.obolibrary.org/obo/HP_0032928							
HP:0032929	biolink:PhenotypicFeature	Abnormal chondrocyte morphology	Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.		hp.json		http://purl.obolibrary.org/obo/HP_0032929							
HP:0032930	biolink:PhenotypicFeature	Lacunar halos around chondrocytes	Concentric rings around the chondrocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0032930							
HP:0032931	biolink:PhenotypicFeature	obsolete Focal impaired awareness cognitive seizure with impaired attention			hp.json		http://purl.obolibrary.org/obo/HP_0032931							
HP:0032932	biolink:PhenotypicFeature	Increased circulating pancreatic triacylglycerol lipase level	An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).		hp.json	Elevated circulating pancreatic triacylglycerol lipase activity	http://purl.obolibrary.org/obo/HP_0032932							
HP:0032933	biolink:PhenotypicFeature	Airway hyperresponsiveness	An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.		hp.json		http://purl.obolibrary.org/obo/HP_0032933							
HP:0032934	biolink:PhenotypicFeature	Spontaneous cerebrospinal fluid leak	A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).		hp.json		http://purl.obolibrary.org/obo/HP_0032934							
HP:0032935	biolink:PhenotypicFeature	Posterior crocodile shagreen of the cornea	Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.		hp.json		http://purl.obolibrary.org/obo/HP_0032935							
HP:0032936	biolink:PhenotypicFeature	Intrusion symptom	Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context.		hp.json	Re-experiencing symptom	http://purl.obolibrary.org/obo/HP_0032936							
HP:0032937	biolink:PhenotypicFeature	Recurrent, involuntary and intrusive distressing memories	After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory.		hp.json		http://purl.obolibrary.org/obo/HP_0032937							
HP:0032938	biolink:PhenotypicFeature	Recurrent trauma-related distressing dreams	Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.		hp.json		http://purl.obolibrary.org/obo/HP_0032938							
HP:0032939	biolink:PhenotypicFeature	Physiological reactivity to cues	Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).		hp.json		http://purl.obolibrary.org/obo/HP_0032939							
HP:0032940	biolink:PhenotypicFeature	Dissociative reaction	A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration.		hp.json		http://purl.obolibrary.org/obo/HP_0032940							
HP:0032941	biolink:PhenotypicFeature	Intense psychological distress to cues	Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.		hp.json		http://purl.obolibrary.org/obo/HP_0032941							
HP:0032942	biolink:PhenotypicFeature	Avoidance of stimuli associated with traumatic event	Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).		hp.json		http://purl.obolibrary.org/obo/HP_0032942							
HP:0032943	biolink:PhenotypicFeature	Abnormal urine pH	A deviation of urine pH from the normal range of 4.5 to 7.8.		hp.json		http://purl.obolibrary.org/obo/HP_0032943							
HP:0032944	biolink:PhenotypicFeature	Alkaline urine	Urine pH of 8 or higher.		hp.json		http://purl.obolibrary.org/obo/HP_0032944							
HP:0032945	biolink:PhenotypicFeature	Renal interstitial inflammation	Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032945							
HP:0032946	biolink:PhenotypicFeature	Renal cortical interstitial inflammation	Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032946							
HP:0032947	biolink:PhenotypicFeature	Renal medullary interstitial inflammation	Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032947							
HP:0032948	biolink:PhenotypicFeature	Renal interstitial fibrosis	The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.		hp.json		http://purl.obolibrary.org/obo/HP_0032948							
HP:0032949	biolink:PhenotypicFeature	Renal interstitial calcium phosphate deposits	The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.		hp.json		http://purl.obolibrary.org/obo/HP_0032949							
HP:0032950	biolink:PhenotypicFeature	Abnormal renal tubular lumen morphology	Abnormal structure or form of the lumen (opening) of kidney tubules.		hp.json	Abnormal renal tubular luminal morphology	http://purl.obolibrary.org/obo/HP_0032950							
HP:0032951	biolink:PhenotypicFeature	Renal tubular viral cytopathic changes	Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.		hp.json		http://purl.obolibrary.org/obo/HP_0032951							
HP:0032952	biolink:PhenotypicFeature	Usual-type tubular atrophy	A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.		hp.json	Common-type renal tubular atrophy	http://purl.obolibrary.org/obo/HP_0032952							
HP:0032953	biolink:PhenotypicFeature	Renal tubular cytomegalovirus inclusions	Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.		hp.json		http://purl.obolibrary.org/obo/HP_0032953							
HP:0032954	biolink:PhenotypicFeature	Renal tubular adenovirus inclusions	Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage.		hp.json		http://purl.obolibrary.org/obo/HP_0032954							
HP:0032955	biolink:PhenotypicFeature	Renal tubular polyoma virus inclusions	Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.		hp.json		http://purl.obolibrary.org/obo/HP_0032955							
HP:0032956	biolink:PhenotypicFeature	Renal tubular herpes simplex virus inclusions	Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.		hp.json		http://purl.obolibrary.org/obo/HP_0032956							
HP:0032957	biolink:PhenotypicFeature	Dysmorphic hematuria	The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.		hp.json	Acanthocyturia	http://purl.obolibrary.org/obo/HP_0032957							
HP:0032958	biolink:PhenotypicFeature	Urinary oval fat bodies	The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.		hp.json		http://purl.obolibrary.org/obo/HP_0032958							
HP:0032959	biolink:PhenotypicFeature	Intratubular calcium oxalate casts	Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032959							
HP:0032960	biolink:PhenotypicFeature	Intratubular calcium phosphate casts	Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0032960							
HP:0032961	biolink:PhenotypicFeature	Magnesium ammonium phosphate crystalluria	Magnesium ammonium phosphate crystals in the urine.		hp.json	Struvite urinary crystals	http://purl.obolibrary.org/obo/HP_0032961							
HP:0032962	biolink:PhenotypicFeature	Tubular microcystic change	Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.		hp.json		http://purl.obolibrary.org/obo/HP_0032962							
HP:0032963	biolink:PhenotypicFeature	Complex renal cyst	A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.		hp.json		http://purl.obolibrary.org/obo/HP_0032963							
HP:0032964	biolink:PhenotypicFeature	Uric acid crystalluria	The presence of uric acid crystals in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0032964							
HP:0032965	biolink:PhenotypicFeature	Interstitial emphysema	Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.		hp.json		http://purl.obolibrary.org/obo/HP_0032965							
HP:0032966	biolink:PhenotypicFeature	Centrilobular emphysema	A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.		hp.json	Centriacinar emphysema	http://purl.obolibrary.org/obo/HP_0032966							
HP:0032967	biolink:PhenotypicFeature	Panacinar emphysema	Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.		hp.json		http://purl.obolibrary.org/obo/HP_0032967							
HP:0032968	biolink:PhenotypicFeature	Expiratory air trapping	Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.		hp.json		http://purl.obolibrary.org/obo/HP_0032968							
HP:0032969	biolink:PhenotypicFeature	Traction bronchiectasis	Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.		hp.json		http://purl.obolibrary.org/obo/HP_0032969							
HP:0032970	biolink:PhenotypicFeature	Traction bronchiolectasis			hp.json		http://purl.obolibrary.org/obo/HP_0032970							
HP:0032971	biolink:PhenotypicFeature	Computed tomographic halo sign	CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.		hp.json	CT halo sign	http://purl.obolibrary.org/obo/HP_0032971							
HP:0032972	biolink:PhenotypicFeature	Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.		hp.json		http://purl.obolibrary.org/obo/HP_0032972							
HP:0032973	biolink:PhenotypicFeature	Abnormal bronchoalveolar lavage fluid morphology	Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.		hp.json		http://purl.obolibrary.org/obo/HP_0032973							
HP:0032974	biolink:PhenotypicFeature	Abnormal cellular composition of bronchoalveolar fluid	Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.		hp.json	Abnormal cell differential of broncho-alveolar fluid	http://purl.obolibrary.org/obo/HP_0032974							
HP:0032975	biolink:PhenotypicFeature	Abnormal bronchoalveolar fluid protein level	Any deviation from the normal concentration of protein in the bronchoalveolar fluid.		hp.json	Abnormal biochemical composition of broncho-alveolar fluid|Abnormal level of proteins in the broncho-alveolar fluid	http://purl.obolibrary.org/obo/HP_0032975							
HP:0032976	biolink:PhenotypicFeature	Elevated bronchoalveolar lavage fluid lymphocyte proportion	Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.		hp.json		http://purl.obolibrary.org/obo/HP_0032976							
HP:0032977	biolink:PhenotypicFeature	Elevated bronchoalveolar lavage fluid neutrophil proportion	Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.		hp.json	Elevated level of neutrophils in broncho-alveolar lavage fluid	http://purl.obolibrary.org/obo/HP_0032977							
HP:0032978	biolink:PhenotypicFeature	Lipid-laden macrophages in bronchoalveolar fluid	Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.		hp.json		http://purl.obolibrary.org/obo/HP_0032978							
HP:0032979	biolink:PhenotypicFeature	Hemosiderin-laden macrophages in bronchoalveolar fluid	Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).		hp.json	Accumulation of hemosiderin laden alveolar macrophages|Siderophages in bronchoalveolar fluid	http://purl.obolibrary.org/obo/HP_0032979							
HP:0032980	biolink:PhenotypicFeature	Absent bronchoalveolar surfactant-protein C	Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.		hp.json		http://purl.obolibrary.org/obo/HP_0032980							
HP:0032981	biolink:PhenotypicFeature	Absent bronchoalveolar dimeric surfactant-protein B	Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0032981							
HP:0032982	biolink:PhenotypicFeature	obsolete Intraalveolar phospholipid accumulation			hp.json		http://purl.obolibrary.org/obo/HP_0032982							
HP:0032983	biolink:PhenotypicFeature	Atoll sign	CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.		hp.json	Reversed halo sign	http://purl.obolibrary.org/obo/HP_0032983							
HP:0032984	biolink:PhenotypicFeature	Abnormal alveolar macrophage morphology	Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.		hp.json		http://purl.obolibrary.org/obo/HP_0032984							
HP:0032985	biolink:PhenotypicFeature	Dust particle inclusion in alveolar macrophages	Accumulation of inhaled, nondigestable particles in macrophages.		hp.json		http://purl.obolibrary.org/obo/HP_0032985							
HP:0032986	biolink:PhenotypicFeature	Smoker-inclusions in alveolar macrophages	In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.		hp.json		http://purl.obolibrary.org/obo/HP_0032986							
HP:0032987	biolink:PhenotypicFeature	Elevated bronchoalveolar lavage fluid eosinophil proportion	Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.		hp.json		http://purl.obolibrary.org/obo/HP_0032987							
HP:0032988	biolink:PhenotypicFeature	Persistent head lag	The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.		hp.json	Head lag|Headlag	http://purl.obolibrary.org/obo/HP_0032988							
HP:0032989	biolink:PhenotypicFeature	Delayed ability to roll over	Delayed ahcievement of the ability to roll front to back and back to front.		hp.json		http://purl.obolibrary.org/obo/HP_0032989							
HP:0032990	biolink:PhenotypicFeature	Localized pulmonary hemorrhage	Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.		hp.json	Localised pulmonary haemorrhage	http://purl.obolibrary.org/obo/HP_0032990							
HP:0032991	biolink:PhenotypicFeature	Abnormal pulmonary fissure morphology	An abnormal form or number of the pulmonary fissures.		hp.json		http://purl.obolibrary.org/obo/HP_0032991							
HP:0032992	biolink:PhenotypicFeature	Abnormal pulmonary fissure architecture	An abnormal form or location of a pulmonary fissure.		hp.json		http://purl.obolibrary.org/obo/HP_0032992							
HP:0032993	biolink:PhenotypicFeature	Abnormal pulmonary fissure count	A deviation from the normal number of pulmonary fissures.		hp.json		http://purl.obolibrary.org/obo/HP_0032993							
HP:0032994	biolink:PhenotypicFeature	Supernumerary pulmonary fissure	Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.		hp.json	increased pulmonary fissure count	http://purl.obolibrary.org/obo/HP_0032994							
HP:0032995	biolink:PhenotypicFeature	Decreased pulmonary fissure count	Lack of one or more of the normal pulmonary fissures.		hp.json	Reduced pulmonary fissure count	http://purl.obolibrary.org/obo/HP_0032995							
HP:0032996	biolink:PhenotypicFeature	Abnormal cystatin C level	Any deviation from the normal concentration of cystatin C in serum or plasma.		hp.json		http://purl.obolibrary.org/obo/HP_0032996							
HP:0032997	biolink:PhenotypicFeature	Decreased cystatin C level	A decreased concentration of cystatin C in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032997							
HP:0032998	biolink:PhenotypicFeature	Increased cystatin C level	A elevated concentration of cystatin C in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0032998							
HP:0032999	biolink:PhenotypicFeature	Increased fecal porphyrin	Abnormally high concentration of fecal porphyrins in feces.		hp.json	Increased faecal porphyrin	http://purl.obolibrary.org/obo/HP_0032999							
HP:0033000	biolink:PhenotypicFeature	Subglottic laryngitis	Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.		hp.json	Croup|Laryngitis|Pseudocroup|Spasmodic croup|Subglottic laryngitis|Viral croup	http://purl.obolibrary.org/obo/HP_0033000							
HP:0033001	biolink:PhenotypicFeature	Laryngeal papilloma	A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.		hp.json	Laryngeal papillomas|Laryngeal papillomatosis	http://purl.obolibrary.org/obo/HP_0033001							
HP:0033002	biolink:PhenotypicFeature	Bronchial papilloma	A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.		hp.json		http://purl.obolibrary.org/obo/HP_0033002							
HP:0033003	biolink:PhenotypicFeature	Tracheal papilloma	A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.		hp.json		http://purl.obolibrary.org/obo/HP_0033003							
HP:0033004	biolink:PhenotypicFeature	Palmar warts	Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).		hp.json		http://purl.obolibrary.org/obo/HP_0033004							
HP:0033005	biolink:PhenotypicFeature	Plantar warts	Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).		hp.json		http://purl.obolibrary.org/obo/HP_0033005							
HP:0033006	biolink:PhenotypicFeature	Diffuse alveolar damage	Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.		hp.json		http://purl.obolibrary.org/obo/HP_0033006							
HP:0033007	biolink:PhenotypicFeature	Architectural distortion of the lung	Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.		hp.json		http://purl.obolibrary.org/obo/HP_0033007							
HP:0033008	biolink:PhenotypicFeature	Increased Z-disc width	Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).		hp.json	Increased Z-disk width|Widened z-discs	http://purl.obolibrary.org/obo/HP_0033008							
HP:0033009	biolink:PhenotypicFeature	Increased fecal coproporphyrin 1	Abnormally high concentration of coproporphyrin 3 in feces.		hp.json	Elevated faecal coproporphyrin 1|High faecal coproporphyrin 1|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							
HP:0033010	biolink:PhenotypicFeature	Increased fecal coproporphyrin 3	Abnormally high concentration of coproporphyrin 3 in feces		hp.json	Elevated faecal coproporphyrin 3|High faecal coproporphyrin 3|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							
HP:0033011	biolink:PhenotypicFeature	Platystencephaly	Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.		hp.json		http://purl.obolibrary.org/obo/HP_0033011							
HP:0033012	biolink:PhenotypicFeature	Abnormal salivary metabolite concentration	Any deviation from the normal concentration of a metabolite in saliva.		hp.json		http://purl.obolibrary.org/obo/HP_0033012							
HP:0033013	biolink:PhenotypicFeature	Abnormal salivary cortisol level	Any deviation from the normal concentration of cortisol in saliva.		hp.json		http://purl.obolibrary.org/obo/HP_0033013							
HP:0033014	biolink:PhenotypicFeature	Decreased salivary cortisol level	Abnormally reduced concentration of cortisol in saliva.		hp.json		http://purl.obolibrary.org/obo/HP_0033014							
HP:0033015	biolink:PhenotypicFeature	Increased salivary cortisol level	Abnormally elevated concentration of cortisol in saliva.		hp.json		http://purl.obolibrary.org/obo/HP_0033015							
HP:0033016	biolink:PhenotypicFeature	Chronic decreased circulating IgD	A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.		hp.json	Chronic decreased IgM in blood	http://purl.obolibrary.org/obo/HP_0033016							
HP:0033017	biolink:PhenotypicFeature	Transient decreased circulating IgD	A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.		hp.json	Transient decreaseed IgD in blood	http://purl.obolibrary.org/obo/HP_0033017							
HP:0033018	biolink:PhenotypicFeature	Chronic absent circulating IgD	A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.		hp.json	Chronic (near) absent IgM in blood	http://purl.obolibrary.org/obo/HP_0033018							
HP:0033019	biolink:PhenotypicFeature	Male reproductive system neoplasm	A neoplasm that affects the male reproductive system.	NCIT:C3054	hp.json		http://purl.obolibrary.org/obo/HP_0033019							
HP:0033020	biolink:PhenotypicFeature	Female reproductive system neoplasm	A neoplasm that affects the female reproductive system.	NCIT:C3053	hp.json		http://purl.obolibrary.org/obo/HP_0033020							
HP:0033021	biolink:PhenotypicFeature	Transient decreased circulating IgE	A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.		hp.json	Transient decreased IgE in blood	http://purl.obolibrary.org/obo/HP_0033021							
HP:0033022	biolink:PhenotypicFeature	Chronic decreased circulating IgE	A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.		hp.json	Chronic decreased IgE in blood	http://purl.obolibrary.org/obo/HP_0033022							
HP:0033023	biolink:PhenotypicFeature	Chronic absent circulating IgE	A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.		hp.json	Chronic (near) absent IgE in blood	http://purl.obolibrary.org/obo/HP_0033023							
HP:0033024	biolink:PhenotypicFeature	Transient decreased circulating IgA	A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033024							
HP:0033025	biolink:PhenotypicFeature	Chronic absent circulating total IgG	A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.		hp.json	Chronic (near) absent total IgG in blood	http://purl.obolibrary.org/obo/HP_0033025							
HP:0033026	biolink:PhenotypicFeature	White oral mucosal macule	A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.		hp.json		http://purl.obolibrary.org/obo/HP_0033026							
HP:0033027	biolink:PhenotypicFeature	Retinal peau d'orange	A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.		hp.json		http://purl.obolibrary.org/obo/HP_0033027							
HP:0033028	biolink:PhenotypicFeature	Anti-ribonucleoprotein antibody positivity	The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.  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.json	Anti-RNP-antibodies|Anti-Scl-34 antibody positivity|Anti-U3 ribonucleoprotein antibody positivity	http://purl.obolibrary.org/obo/HP_0033028							
HP:0033029	biolink:PhenotypicFeature	Anti-Jo-1 antibody positivity	The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase.		hp.json		http://purl.obolibrary.org/obo/HP_0033029							
HP:0033030	biolink:PhenotypicFeature	Anti-glomerular basement membrane-antibody positivity	The presence of autoantibodies in the serum that react to the glomerular basement membrane.		hp.json	Anti-GBM-antibody positivity	http://purl.obolibrary.org/obo/HP_0033030							
HP:0033031	biolink:PhenotypicFeature	Hyperpyrexia	An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).		hp.json		http://purl.obolibrary.org/obo/HP_0033031							
HP:0033032	biolink:PhenotypicFeature	Triggered by an abusive adult	Applies to a sign or symptom that is induced by an abusive adult (usually a parent).		hp.json	Munchausen syndrome by proxy	http://purl.obolibrary.org/obo/HP_0033032							
HP:0033033	biolink:PhenotypicFeature	Anti-MDA5 antibody positivity	The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).		hp.json	Increased level of anti-melanoma differentiation-associated protein 5 antibodies	http://purl.obolibrary.org/obo/HP_0033033							
HP:0033034	biolink:PhenotypicFeature	Anti-citrullinated protein antibody positivity	The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.		hp.json		http://purl.obolibrary.org/obo/HP_0033034							
HP:0033035	biolink:PhenotypicFeature	Abnormal Schwann cell morphology	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.json	Abnormal neurilemmal cell morphology|Abnormal neurilemmocyte morphology	http://purl.obolibrary.org/obo/HP_0033035							
HP:0033036	biolink:PhenotypicFeature	Decreased nasal nitric oxide	Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.		hp.json	Low nasal nitric oxide level	http://purl.obolibrary.org/obo/HP_0033036							
HP:0033037	biolink:PhenotypicFeature	Migratory arthritis			hp.json	Migratory polyarthritis	http://purl.obolibrary.org/obo/HP_0033037							
HP:0033038	biolink:PhenotypicFeature	Anti-RNA-polymerase-III-autoantibody positivity	The presence of autoantibodies in the serum that react to RNA-polymerase III.		hp.json		http://purl.obolibrary.org/obo/HP_0033038							
HP:0033039	biolink:PhenotypicFeature	Increased circulating precipitin level	The presence of high titers of antigen-precipitating IgG in the serum.		hp.json	Increased level of antigen-precipitating IgG antibodies	http://purl.obolibrary.org/obo/HP_0033039							
HP:0033040	biolink:PhenotypicFeature	Anti-Sm-autoantibody positivity	The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.		hp.json	Anti-Smith autoantibody	http://purl.obolibrary.org/obo/HP_0033040							
HP:0033041	biolink:PhenotypicFeature	Cytokine storm	Excessive or uncontrolled release of proinflammatory cytokines.		hp.json	Hypercytokinemia	http://purl.obolibrary.org/obo/HP_0033041							
HP:0033042	biolink:PhenotypicFeature	Abnormal chorion morphology	Any structural anomaly of the fetal part of the placenta, which is known as the chorion.		hp.json		http://purl.obolibrary.org/obo/HP_0033042							
HP:0033043	biolink:PhenotypicFeature	Edematous chorionic villi	Swelling of the chorionic villi owing to fluid accumulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033043							
HP:0033044	biolink:PhenotypicFeature	Motor regression	Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.		hp.json	Regression of motor skills	http://purl.obolibrary.org/obo/HP_0033044							
HP:0033045	biolink:PhenotypicFeature	Bipedal edema	A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid).		hp.json	Bipedal oedema	http://purl.obolibrary.org/obo/HP_0033045							
HP:0033046	biolink:PhenotypicFeature	Michaelis-Gutmann bodies	Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.		hp.json	Malakoplakia	http://purl.obolibrary.org/obo/HP_0033046							
HP:0033047	biolink:PhenotypicFeature	Body ache	Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.		hp.json		http://purl.obolibrary.org/obo/HP_0033047							
HP:0033048	biolink:PhenotypicFeature	Substantia nigra hypointensity on susceptibility-weighted imaging	Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).		hp.json	Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)	http://purl.obolibrary.org/obo/HP_0033048							
HP:0033049	biolink:PhenotypicFeature	Globus pallidus hypointensity on susceptibility-weighted imaging	Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).		hp.json		http://purl.obolibrary.org/obo/HP_0033049							
HP:0033050	biolink:PhenotypicFeature	Pharyngalgia	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.		hp.json	Sore throat|Throat discomfort|Throat pain|Pharyngodynia	http://purl.obolibrary.org/obo/HP_0033050							
HP:0033051	biolink:PhenotypicFeature	Impaired executive functioning	A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.		hp.json		http://purl.obolibrary.org/obo/HP_0033051							
HP:0033052	biolink:PhenotypicFeature	Psychogenic non-epileptic seizure	Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging.		hp.json		http://purl.obolibrary.org/obo/HP_0033052							
HP:0033053	biolink:PhenotypicFeature	Pseudoseizure	Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.		hp.json		http://purl.obolibrary.org/obo/HP_0033053							
HP:0033054	biolink:PhenotypicFeature	Myoclonic tremor	A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.		hp.json		http://purl.obolibrary.org/obo/HP_0033054							
HP:0033055	biolink:PhenotypicFeature	Impaired ability to plan	Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.		hp.json	Ineffective planning	http://purl.obolibrary.org/obo/HP_0033055							
HP:0033056	biolink:PhenotypicFeature	Impaired ability to organize	Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.		hp.json	Impaired ability to organise	http://purl.obolibrary.org/obo/HP_0033056							
HP:0033057	biolink:PhenotypicFeature	Decreased serum terminal complement component	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.json		http://purl.obolibrary.org/obo/HP_0033057							
HP:0033058	biolink:PhenotypicFeature	Decreased serum complement C7	A reduced level of the complement component C7 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033058							
HP:0033059	biolink:PhenotypicFeature	Decreased serum complement C6	A reduced level of the complement component C6 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033059							
HP:0033060	biolink:PhenotypicFeature	Decreased serum complement C5	A reduced level of the complement component C5 in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033060							
HP:0033061	biolink:PhenotypicFeature	Increased factor IX activity	Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.		hp.json		http://purl.obolibrary.org/obo/HP_0033061							
HP:0033062	biolink:PhenotypicFeature	Abnormal factor IX activity	Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.		hp.json		http://purl.obolibrary.org/obo/HP_0033062							
HP:0033063	biolink:PhenotypicFeature	Shortened sleep cycle	A tendency to sleep less hours than usual while feeling well rested.		hp.json	Short sleep	http://purl.obolibrary.org/obo/HP_0033063							
HP:0033064	biolink:PhenotypicFeature	Renal interstitial globotriaosylceramide inclusions	Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).		hp.json		http://purl.obolibrary.org/obo/HP_0033064							
HP:0033065	biolink:PhenotypicFeature	Mild albuminuria	The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).		hp.json		http://purl.obolibrary.org/obo/HP_0033065							
HP:0033066	biolink:PhenotypicFeature	Severe albuminuria	The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).		hp.json	Heavy albuminuria	http://purl.obolibrary.org/obo/HP_0033066							
HP:0033067	biolink:PhenotypicFeature	Cystine crystalluria			hp.json		http://purl.obolibrary.org/obo/HP_0033067							
HP:0033068	biolink:PhenotypicFeature	Medication crystalluria	A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.		hp.json		http://purl.obolibrary.org/obo/HP_0033068							
HP:0033069	biolink:PhenotypicFeature	Renal interstitial IgG4+ plasma cell infiltration	An increased number of IgG4+ plasma cells in the interstitial space of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033069							
HP:0033070	biolink:PhenotypicFeature	Impaired self monitoring	Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.		hp.json		http://purl.obolibrary.org/obo/HP_0033070							
HP:0033071	biolink:PhenotypicFeature	Impaired task monitoring	Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.		hp.json		http://purl.obolibrary.org/obo/HP_0033071							
HP:0033072	biolink:PhenotypicFeature	Abnormal macroscopic urine appearance	Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033072							
HP:0033073	biolink:PhenotypicFeature	Urate tophus	Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.		hp.json	Urate tophi	http://purl.obolibrary.org/obo/HP_0033073							
HP:0033074	biolink:PhenotypicFeature	Steroid-responsive anemia	Amelioration of anemia upon treatment with a steroid medication.		hp.json	Prednisone-responsive anaemia|Steroid-responsive anaemia|Prednisone-responsive anemia	http://purl.obolibrary.org/obo/HP_0033074							
HP:0033075	biolink:PhenotypicFeature	Inappropriately normal thyroid-stimulating hormone level	A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.		hp.json	Inappropriately normal TSH	http://purl.obolibrary.org/obo/HP_0033075							
HP:0033076	biolink:PhenotypicFeature	Abnormal circulating free T4 level	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.json	Abnormal circulating free thyroxine level	http://purl.obolibrary.org/obo/HP_0033076							
HP:0033077	biolink:PhenotypicFeature	Increased circulating free T4 level	An elevated concentration of free thyroxine (fT4) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033077							
HP:0033078	biolink:PhenotypicFeature	Decreased circulating free T4 level	A reduced concentration of free thyroxine (fT4) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033078							
HP:0033079	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the thyroid gland	Absence or underdevelopment of the thyroid gland.		hp.json		http://purl.obolibrary.org/obo/HP_0033079							
HP:0033080	biolink:PhenotypicFeature	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test.		hp.json	Abnormal TSH response to TRH stimulation test	http://purl.obolibrary.org/obo/HP_0033080							
HP:0033081	biolink:PhenotypicFeature	Absent TSH response to thyrotrophin-releasing hormone stimulation test	Failure to increase serum TSH levels in response to a TRH stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0033081							
HP:0033082	biolink:PhenotypicFeature	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.		hp.json		http://purl.obolibrary.org/obo/HP_0033082							
HP:0033083	biolink:PhenotypicFeature	Increased circulating farnesol concentration	An elevated level of farnesol in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033083							
HP:0033084	biolink:PhenotypicFeature	Abnormal antral follicle count	Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.		hp.json		http://purl.obolibrary.org/obo/HP_0033084							
HP:0033085	biolink:PhenotypicFeature	Reduced antral follicle count	A count of antral follicles that is lower than normal for age.		hp.json		http://purl.obolibrary.org/obo/HP_0033085							
HP:0033086	biolink:PhenotypicFeature	Increased antral follicle count	A count of antral follicles that is higher than normal for age.		hp.json		http://purl.obolibrary.org/obo/HP_0033086							
HP:0033087	biolink:PhenotypicFeature	Quotidian fever	Fever that occurs at daily intervals.		hp.json		http://purl.obolibrary.org/obo/HP_0033087							
HP:0033088	biolink:PhenotypicFeature	Valinuria	Urine valine level above the normal range.		hp.json	Increased valine in urine	http://purl.obolibrary.org/obo/HP_0033088							
HP:0033089	biolink:PhenotypicFeature	Branched-chain aminoaciduria	An increased level of a branched chain family amino acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033089							
HP:0033090	biolink:PhenotypicFeature	Increased aromatic amino acid level in urine	An elevated level of an aromatic amino acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033090							
HP:0033091	biolink:PhenotypicFeature	Tyrosinuria	An abnormally increased level of tyrosine in the urine.		hp.json	Increased tyrosine in urine	http://purl.obolibrary.org/obo/HP_0033091							
HP:0033092	biolink:PhenotypicFeature	Increased urine succinate level	An increase in the level of succinate in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033092							
HP:0033093	biolink:PhenotypicFeature	Increased glutamine family amino acid level in urine	An elevated level of an glutamine family amino acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033093							
HP:0033094	biolink:PhenotypicFeature	Increased urine glutamate level	An increased concentration of glutamate in the urine.		hp.json	Increased glutamic acid in urine	http://purl.obolibrary.org/obo/HP_0033094							
HP:0033095	biolink:PhenotypicFeature	Increased sulfur amino acid level in urine	An elevated level of a sulfur-containing amino acid in the urine.		hp.json	Increased sulphur amino acid level in urine|Increased sulfur-containing amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033095							
HP:0033096	biolink:PhenotypicFeature	Increased aspartate family amino acid level in urine	An elevated level of an aspartate family amino acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033096							
HP:0033097	biolink:PhenotypicFeature	Increased urine proteinogenic amino acid derivative level	An elevated urine level of a compound that is derived from an amino acid.		hp.json		http://purl.obolibrary.org/obo/HP_0033097							
HP:0033098	biolink:PhenotypicFeature	Increased urinary non-proteinogenic amino acid level	An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.		hp.json	Elevated urinary non-proteinogenic amino acid level	http://purl.obolibrary.org/obo/HP_0033098							
HP:0033099	biolink:PhenotypicFeature	Increased serine family amino acid in urine	An increased level of a serine family amino acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033099							
HP:0033100	biolink:PhenotypicFeature	Increased proteinogenic amino acid level in urine	An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.		hp.json		http://purl.obolibrary.org/obo/HP_0033100							
HP:0033101	biolink:PhenotypicFeature	Elevated urine aconitic acid level	An abnormally increased level of aconitic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033101							
HP:0033102	biolink:PhenotypicFeature	Monkey wrench femoral neck	The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.		hp.json	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							
HP:0033103	biolink:PhenotypicFeature	Elevated circulating CHI3L1 level	Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.		hp.json	Elevated circulating YKL40 level|Elevated circulating chitinase 3-like 1 level	http://purl.obolibrary.org/obo/HP_0033103							
HP:0033104	biolink:PhenotypicFeature	Inappropriate absence of fever	Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.		hp.json		http://purl.obolibrary.org/obo/HP_0033104							
HP:0033105	biolink:PhenotypicFeature	Interhypothalamic Adhesion	An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.		hp.json	Hypothalamic adhesion	http://purl.obolibrary.org/obo/HP_0033105							
HP:0033106	biolink:PhenotypicFeature	Elevated circulating D-dimer concentration	An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.		hp.json	Elevated D-dimers|Elevated fibrin degradation fragment concentration	http://purl.obolibrary.org/obo/HP_0033106							
HP:0033107	biolink:PhenotypicFeature	Abnormal circulating proteinogenic amino acid concentration	An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.		hp.json		http://purl.obolibrary.org/obo/HP_0033107							
HP:0033108	biolink:PhenotypicFeature	Abnormal circulating proteinogenic amino acid derivative concentration	Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.		hp.json		http://purl.obolibrary.org/obo/HP_0033108							
HP:0033109	biolink:PhenotypicFeature	Abnormal circulating non-proteinogenic amino acid concentration	Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.		hp.json		http://purl.obolibrary.org/obo/HP_0033109							
HP:0033110	biolink:PhenotypicFeature	Elevated circulating alpha-aminobutyric acid concentration	An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.		hp.json	Elevated circulating homoalanine concentration	http://purl.obolibrary.org/obo/HP_0033110							
HP:0033111	biolink:PhenotypicFeature	3-hydroxyisovaleric aciduria	Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.		hp.json	Increased urine 3-hydroxyisovaleric acid level	http://purl.obolibrary.org/obo/HP_0033111							
HP:0033112	biolink:PhenotypicFeature	Elevated circulating apolipoprotein C-III concentration	An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.		hp.json	Elevated APOC3 level|Elevated apolipoprotein C-III level	http://purl.obolibrary.org/obo/HP_0033112							
HP:0033113	biolink:PhenotypicFeature	Gallop rhythm	In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.		hp.json	Triple rhythm	http://purl.obolibrary.org/obo/HP_0033113							
HP:0033114	biolink:PhenotypicFeature	Quadruple gallop rhythm	A type of gallop rhytm in which both the third and the fourth sounds are present.		hp.json		http://purl.obolibrary.org/obo/HP_0033114							
HP:0033115	biolink:PhenotypicFeature	Elevated circulating tenascin-C level	Abnormally increased concentration of tenascin-C in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033115							
HP:0033116	biolink:PhenotypicFeature	Duodenal gastric metaplasia	Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.		hp.json		http://purl.obolibrary.org/obo/HP_0033116							
HP:0033117	biolink:PhenotypicFeature	Duodenitis	Inflammation of the lining of the upper small intestine (duodenum).		hp.json		http://purl.obolibrary.org/obo/HP_0033117							
HP:0033118	biolink:PhenotypicFeature	Abnormal right ventricular function	Anomalous physiology (function) of the right ventricle.		hp.json		http://purl.obolibrary.org/obo/HP_0033118							
HP:0033119	biolink:PhenotypicFeature	Elevated right ventricular systolic pressure	Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.		hp.json		http://purl.obolibrary.org/obo/HP_0033119							
HP:0033120	biolink:PhenotypicFeature	Nummular eczema	A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet		hp.json	Discoid eczema|Nummular dermatitis	http://purl.obolibrary.org/obo/HP_0033120							
HP:0033121	biolink:PhenotypicFeature	Barking cough	A cough with a characteristic sound that has been compared to a seal's bark.		hp.json	Seal-like barking cough	http://purl.obolibrary.org/obo/HP_0033121							
HP:0033122	biolink:PhenotypicFeature	Absent P wave	The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.		hp.json	Absence of P wave on electrocardiography	http://purl.obolibrary.org/obo/HP_0033122							
HP:0033123	biolink:PhenotypicFeature	Elevated circulating osteopontin level	Abnormally increased level of osteopontin in the blood circulation		hp.json		http://purl.obolibrary.org/obo/HP_0033123							
HP:0033124	biolink:PhenotypicFeature	Increased serum sorbitol concentration	An increased level of sorbitol in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033124							
HP:0033125	biolink:PhenotypicFeature	Follicular lymphoma	An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement.		hp.json		http://purl.obolibrary.org/obo/HP_0033125							
HP:0033126	biolink:PhenotypicFeature	Cutaneous necrosis	Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin.		hp.json	Skin necrosis	http://purl.obolibrary.org/obo/HP_0033126							
HP:0033127	biolink:PhenotypicFeature	Abnormality of the musculoskeletal system	An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0033127							
HP:0033128	biolink:PhenotypicFeature	Delayed ability to crawl	A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.		hp.json		http://purl.obolibrary.org/obo/HP_0033128							
HP:0033129	biolink:PhenotypicFeature	Abnormal shoulder physiology	Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.		hp.json		http://purl.obolibrary.org/obo/HP_0033129							
HP:0033130	biolink:PhenotypicFeature	Abnormal renal echogenicity	Anomalous echogenicity of the kidney on ultrasound examination.		hp.json		http://purl.obolibrary.org/obo/HP_0033130							
HP:0033131	biolink:PhenotypicFeature	Renal medullary hyperechogenicity	Increased echogenecity of the medullary region of the kidney.		hp.json	Increased renal medullary echogenicity	http://purl.obolibrary.org/obo/HP_0033131							
HP:0033132	biolink:PhenotypicFeature	Renal cortical hyperechogenicity	Increased echogenecity of the kidney cortex.		hp.json		http://purl.obolibrary.org/obo/HP_0033132							
HP:0033133	biolink:PhenotypicFeature	Renal cortical hypoechogeneity			hp.json	Hypoechogenic renal cortex	http://purl.obolibrary.org/obo/HP_0033133							
HP:0033134	biolink:PhenotypicFeature	Abdominal adhesions	Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).		hp.json	Intra-abdominal adhesion	http://purl.obolibrary.org/obo/HP_0033134							
HP:0033135	biolink:PhenotypicFeature	Hepatic infarction	Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.		hp.json		http://purl.obolibrary.org/obo/HP_0033135							
HP:0033136	biolink:PhenotypicFeature	Lymph node abscess	An inflammed lymph node that is filled with pus.		hp.json		http://purl.obolibrary.org/obo/HP_0033136							
HP:0033137	biolink:PhenotypicFeature	Abnormal pulmonary alveolar system morphology	A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.		hp.json		http://purl.obolibrary.org/obo/HP_0033137							
HP:0033138	biolink:PhenotypicFeature	Right atrial thrombus	A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.		hp.json		http://purl.obolibrary.org/obo/HP_0033138							
HP:0033139	biolink:PhenotypicFeature	Elevated circulating uracil concentration	Concentration of uracil in the blood is above the normal range.		hp.json		http://purl.obolibrary.org/obo/HP_0033139							
HP:0033140	biolink:PhenotypicFeature	Blake's pouch cyst	The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.		hp.json		http://purl.obolibrary.org/obo/HP_0033140							
HP:0033141	biolink:PhenotypicFeature	Severe SARS-CoV-2 infection	Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.		hp.json		http://purl.obolibrary.org/obo/HP_0033141							
HP:0033142	biolink:PhenotypicFeature	Long nasal bridge	Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.		hp.json		http://purl.obolibrary.org/obo/HP_0033142							
HP:0033143	biolink:PhenotypicFeature	Jejunitis	Inflammation of the lining of the middle section of the small intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0033143							
HP:0033144	biolink:PhenotypicFeature	Abnormal circulating ceruloplasmin concentration	Any deviation of the concentration of ceruloplasmin in the blood from the normal range.		hp.json		http://purl.obolibrary.org/obo/HP_0033144							
HP:0033145	biolink:PhenotypicFeature	Increased circulating ceruloplasmin concentration	Elevated concentration of ceruloplasmin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033145							
HP:0033146	biolink:PhenotypicFeature	Elevated circulating methylsuccinic acid concentration	Increased concentration of methylsuccinic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033146							
HP:0033147	biolink:PhenotypicFeature	Abnormal circulating short-chain fatty-acid concentration	Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033147							
HP:0033148	biolink:PhenotypicFeature	Increased circulating isovaleric acid concentration	Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.		hp.json	Increased circulating isovalerate|Isovalericacidemia	http://purl.obolibrary.org/obo/HP_0033148							
HP:0033149	biolink:PhenotypicFeature	Intrahepatic bile duct dilatation	Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).		hp.json	Dilatation of intrahepatic biliary ducts	http://purl.obolibrary.org/obo/HP_0033149							
HP:0033150	biolink:PhenotypicFeature	Anorectal abscess	An abscess located at the junction of the anal canal and the rectum.		hp.json		http://purl.obolibrary.org/obo/HP_0033150							
HP:0033151	biolink:PhenotypicFeature	Abnormal pharynx morphology	A structural anomaly of the pharynx.		hp.json		http://purl.obolibrary.org/obo/HP_0033151							
HP:0033152	biolink:PhenotypicFeature	Abnormal pharynx physiology	A functional anomaly of the pharynx.		hp.json		http://purl.obolibrary.org/obo/HP_0033152							
HP:0033153	biolink:PhenotypicFeature	Elevated circulating dodecenoylcarnitine concentration	An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.		hp.json	Elevated plasma dodecenoylcarnitine concentration	http://purl.obolibrary.org/obo/HP_0033153							
HP:0033154	biolink:PhenotypicFeature	Elevated circulating deoxypyridinoline concentration	An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033154							
HP:0033155	biolink:PhenotypicFeature	Elevated circulating L-alloisoleucine concentration	Abnormally increased concentration of L-alloisoleucine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033155							
HP:0033156	biolink:PhenotypicFeature	Elevated urine L-alloisoleucine level	Abnormally increased level of L-alloisoleucine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033156							
HP:0033157	biolink:PhenotypicFeature	Elevated circulating 3-methylhistidine concentration	Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033157							
HP:0033158	biolink:PhenotypicFeature	Reduced respiratory ciliary beating frequency	An abnormal reduction in the number of beats per unit time of the respiratory cilia.		hp.json	Dminished respiratory ciliary beat frequency	http://purl.obolibrary.org/obo/HP_0033158							
HP:0033159	biolink:PhenotypicFeature	Reduced urinary inosine level	Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.		hp.json		http://purl.obolibrary.org/obo/HP_0033159							
HP:0033160	biolink:PhenotypicFeature	Decreased urinary guanosine level	Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.		hp.json		http://purl.obolibrary.org/obo/HP_0033160							
HP:0033161	biolink:PhenotypicFeature	Abnormal urinary purine level	Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.		hp.json		http://purl.obolibrary.org/obo/HP_0033161							
HP:0033162	biolink:PhenotypicFeature	Abnormal urinary pyrimidine level	Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.		hp.json		http://purl.obolibrary.org/obo/HP_0033162							
HP:0033163	biolink:PhenotypicFeature	Small intestinal bacterial overgrowth	An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.		hp.json		http://purl.obolibrary.org/obo/HP_0033163							
HP:0033164	biolink:PhenotypicFeature	Focal active colitis	Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.		hp.json		http://purl.obolibrary.org/obo/HP_0033164							
HP:0033165	biolink:PhenotypicFeature	Necrotizing enterocolitis	Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.		hp.json		http://purl.obolibrary.org/obo/HP_0033165							
HP:0033166	biolink:PhenotypicFeature	Recurrent viral upper respiratory tract infections	An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).		hp.json		http://purl.obolibrary.org/obo/HP_0033166							
HP:0033167	biolink:PhenotypicFeature	Neutrophilic urticarial dermatosis	A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.		hp.json		http://purl.obolibrary.org/obo/HP_0033167							
HP:0033168	biolink:PhenotypicFeature	Reduced mevalonate kinase activity	Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.		hp.json		http://purl.obolibrary.org/obo/HP_0033168							
HP:0033169	biolink:PhenotypicFeature	Reduced total lung capacity	Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.		hp.json	Reduced TLC	http://purl.obolibrary.org/obo/HP_0033169							
HP:0033170	biolink:PhenotypicFeature	Abnormal skinfold thickness measurement	Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.		hp.json		http://purl.obolibrary.org/obo/HP_0033170							
HP:0033171	biolink:PhenotypicFeature	Abnormal triceps skinfold thickness	Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.		hp.json		http://purl.obolibrary.org/obo/HP_0033171							
HP:0033172	biolink:PhenotypicFeature	Increased triceps skinfold thickness	Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.		hp.json		http://purl.obolibrary.org/obo/HP_0033172							
HP:0033173	biolink:PhenotypicFeature	Milky appearance of bronchoalveolar lavage fluid	Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.		hp.json		http://purl.obolibrary.org/obo/HP_0033173							
HP:0033174	biolink:PhenotypicFeature	Bloody bronchoalveolar lavage fluid	Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.		hp.json		http://purl.obolibrary.org/obo/HP_0033174							
HP:0033175	biolink:PhenotypicFeature	Elevated circulating 5-oxoproline concentration	Concentration of L-pyroglutamic acid in the blood is above the normal range.		hp.json	Elevated circulating L-pyroglutamic acid concentration	http://purl.obolibrary.org/obo/HP_0033175							
HP:0033176	biolink:PhenotypicFeature	Submandibular lymph node enlargement	Increased size of the lymph nodes that are located beneath the mandible (lower jaw).		hp.json	Submandibular lymphadenopathy	http://purl.obolibrary.org/obo/HP_0033176							
HP:0033177	biolink:PhenotypicFeature	Elevated circulating suberic acid concentration	An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.		hp.json		http://purl.obolibrary.org/obo/HP_0033177							
HP:0033178	biolink:PhenotypicFeature	Increased circulating interleukin 8	An increased concentration of interleukin-8 in the circulation.		hp.json	Increased serum IL-8|Increased serum interleukin 8|Increased serum interleukin-8	http://purl.obolibrary.org/obo/HP_0033178							
HP:0033179	biolink:PhenotypicFeature	Elevated circulating aconitic acid concentration	An increased concentration of aconitic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033179							
HP:0033180	biolink:PhenotypicFeature	Torsion of appendix of testis	The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.		hp.json	Twisted vestigial remnant of the Muellerian duct	http://purl.obolibrary.org/obo/HP_0033180							
HP:0033181	biolink:PhenotypicFeature	Spinal epidural abscess	Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA.		hp.json	A severe pyogenic infection of the epidural space	http://purl.obolibrary.org/obo/HP_0033181							
HP:0033182	biolink:PhenotypicFeature	Increased circulating cathepsin D level	An increase in concentration of cathepsin D in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033182							
HP:0033183	biolink:PhenotypicFeature	Bilobed right lung	A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.		hp.json		http://purl.obolibrary.org/obo/HP_0033183							
HP:0033184	biolink:PhenotypicFeature	Triggered by infection			hp.json		http://purl.obolibrary.org/obo/HP_0033184							
HP:0033185	biolink:PhenotypicFeature	Triggered by EBV infection	Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus.		hp.json	Triggered by Epstein Barr virus infection	http://purl.obolibrary.org/obo/HP_0033185							
HP:0033186	biolink:PhenotypicFeature	Misalignment of the pulmonary veins	The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.		hp.json		http://purl.obolibrary.org/obo/HP_0033186							
HP:0033187	biolink:PhenotypicFeature	Hyperimidodipeptiduria	Elevated levels of proline-containing dipeptides in urine.		hp.json	Imidodipeptiduria	http://purl.obolibrary.org/obo/HP_0033187							
HP:0033188	biolink:PhenotypicFeature	Cystic acne	A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.		hp.json		http://purl.obolibrary.org/obo/HP_0033188							
HP:0033189	biolink:PhenotypicFeature	Radiculomegaly	Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.		hp.json	Long dental root|Rhizomegaly|Root gigantism	http://purl.obolibrary.org/obo/HP_0033189							
HP:0033190	biolink:PhenotypicFeature	Hypertrichotic hyperpigmented patch	A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.		hp.json	Cutaneous hyperpigmentation with overlying hypertrichosis	http://purl.obolibrary.org/obo/HP_0033190							
HP:0033191	biolink:PhenotypicFeature	Increased circulating selenium concentration	An increased concentration of selenium in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033191							
HP:0033192	biolink:PhenotypicFeature	Decreased circulating selenium concentration	An abnormally reduced concentration of selenium in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033192							
HP:0033193	biolink:PhenotypicFeature	Ballooning hepatocyte degeneration	Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.		hp.json	Ballooning degeneration of hepatocytes	http://purl.obolibrary.org/obo/HP_0033193							
HP:0033194	biolink:PhenotypicFeature	Perioral erythema	Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.		hp.json		http://purl.obolibrary.org/obo/HP_0033194							
HP:0033195	biolink:PhenotypicFeature	Perianal erythema	Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.		hp.json		http://purl.obolibrary.org/obo/HP_0033195							
HP:0033196	biolink:PhenotypicFeature	Portal inflammation	Infiltration of portal fields by inflammatory cells.		hp.json	Hepatic portal inflammation	http://purl.obolibrary.org/obo/HP_0033196							
HP:0033197	biolink:PhenotypicFeature	Hepatic lobular inflammation	Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).		hp.json		http://purl.obolibrary.org/obo/HP_0033197							
HP:0033198	biolink:PhenotypicFeature	Triggered by viral infection	Applies to a sign or symptom that is provoked or brought about by infection by a virus.		hp.json		http://purl.obolibrary.org/obo/HP_0033198							
HP:0033199	biolink:PhenotypicFeature	Increased circulating interleukin 10	An elevation of the concentration of interleukin 10 in the blood circulation.		hp.json	Increased serum interleukin 10	http://purl.obolibrary.org/obo/HP_0033199							
HP:0033200	biolink:PhenotypicFeature	Triceps hyporeflexia	Reduced intensity of the triceps tendon reflex.		hp.json	Hyporeflexia of triceps	http://purl.obolibrary.org/obo/HP_0033200							
HP:0033201	biolink:PhenotypicFeature	Biceps hyporeflexia	Reduced intensity of the biceps tendon reflex.		hp.json	Hyporeflexia of biceps	http://purl.obolibrary.org/obo/HP_0033201							
HP:0033202	biolink:PhenotypicFeature	Brachioradialis hyporeflexia	Reduced intensity of the brachioradialis tendon reflex.		hp.json		http://purl.obolibrary.org/obo/HP_0033202							
HP:0033203	biolink:PhenotypicFeature	Brachioradialis hyperreflexia	Increased intensity of the brachioradialis reflex.		hp.json		http://purl.obolibrary.org/obo/HP_0033203							
HP:0033204	biolink:PhenotypicFeature	Triceps hyperreflexia	Increased intensity of the triceps reflex.		hp.json		http://purl.obolibrary.org/obo/HP_0033204							
HP:0033205	biolink:PhenotypicFeature	Biceps hyperreflexia	Increased intensity of the biceps reflex.		hp.json		http://purl.obolibrary.org/obo/HP_0033205							
HP:0033206	biolink:PhenotypicFeature	Hyperactive Achilles reflex	Increased intensity of the Achilles reflex.		hp.json	Hyperactive ankle jerk reflex|Hyperactive ankle reflex	http://purl.obolibrary.org/obo/HP_0033206							
HP:0033207	biolink:PhenotypicFeature	Increased proportion autoreactive unresponsive CD21-/low B cells	Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.		hp.json		http://purl.obolibrary.org/obo/HP_0033207							
HP:0033208	biolink:PhenotypicFeature	Alveolar capillary dysplasia	A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.		hp.json		http://purl.obolibrary.org/obo/HP_0033208							
HP:0033209	biolink:PhenotypicFeature	Acinar dysplasia	Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.		hp.json		http://purl.obolibrary.org/obo/HP_0033209							
HP:0033210	biolink:PhenotypicFeature	Congenital alveolar dysplasia	Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.		hp.json		http://purl.obolibrary.org/obo/HP_0033210							
HP:0033211	biolink:PhenotypicFeature	Decreased total iron binding capacity	A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.		hp.json		http://purl.obolibrary.org/obo/HP_0033211							
HP:0033212	biolink:PhenotypicFeature	Abnormal total iron binding capacity	Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.		hp.json		http://purl.obolibrary.org/obo/HP_0033212							
HP:0033213	biolink:PhenotypicFeature	Elevated urine suberic acid level	An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.		hp.json	Elevated urine octanedioic acid level	http://purl.obolibrary.org/obo/HP_0033213							
HP:0033214	biolink:PhenotypicFeature	Recurrent viral pneumonia	Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.		hp.json		http://purl.obolibrary.org/obo/HP_0033214							
HP:0033215	biolink:PhenotypicFeature	Obliterative abnormality of the renal glomerulus			hp.json		http://purl.obolibrary.org/obo/HP_0033215							
HP:0033216	biolink:PhenotypicFeature	Glomerular hyalinosis	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.		hp.json		http://purl.obolibrary.org/obo/HP_0033216							
HP:0033217	biolink:PhenotypicFeature	Perihilar glomerular hyalinosis	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.		hp.json		http://purl.obolibrary.org/obo/HP_0033217							
HP:0033218	biolink:PhenotypicFeature	Glomerular hyalinosis at the tubular pole	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.		hp.json		http://purl.obolibrary.org/obo/HP_0033218							
HP:0033219	biolink:PhenotypicFeature	Glomerular hyalinosis away from the vascular and tubular poles	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.		hp.json		http://purl.obolibrary.org/obo/HP_0033219							
HP:0033220	biolink:PhenotypicFeature	2-ethylhydracylic aciduria	An increased concentration of 2-ethylhydracylic acid in the urine.		hp.json	Elevated urinary 2-ethylhydracylic acid|Elevated urinary 2-methylbutyrylglycine	http://purl.obolibrary.org/obo/HP_0033220							
HP:0033221	biolink:PhenotypicFeature	Increased CD4:CD8 ratio	An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033221							
HP:0033222	biolink:PhenotypicFeature	Decreased CD4:CD8 ratio	An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.		hp.json	Inverted CD4/CD8 ratio|Inverted CD4:CD8 ratio	http://purl.obolibrary.org/obo/HP_0033222							
HP:0033223	biolink:PhenotypicFeature	Abnormal glomerular parietal epithelial cell morphology	Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.		hp.json		http://purl.obolibrary.org/obo/HP_0033223							
HP:0033224	biolink:PhenotypicFeature	Glomerular parietal epithelial cell hyperplasia	Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.		hp.json	Hyperplasia of the glomerular parietal epithelial cell	http://purl.obolibrary.org/obo/HP_0033224							
HP:0033225	biolink:PhenotypicFeature	Glomerular parietal epithelial cell hypertrophy	An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present		hp.json	Hypertrophy of the glomerular parietal epithelial cell	http://purl.obolibrary.org/obo/HP_0033225							
HP:0033226	biolink:PhenotypicFeature	Bowman capsular hyaline drops	An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.		hp.json	Capsular hyaline drops within Bowman's capsule	http://purl.obolibrary.org/obo/HP_0033226							
HP:0033227	biolink:PhenotypicFeature	Glomerular synechial adhesion	An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.		hp.json		http://purl.obolibrary.org/obo/HP_0033227							
HP:0033228	biolink:PhenotypicFeature	Triceps areflexia	Inability to elicit triceps tendon reflex.		hp.json	Areflexia of triceps	http://purl.obolibrary.org/obo/HP_0033228							
HP:0033229	biolink:PhenotypicFeature	Brachioradialis areflexia	Inability to elicit brachioradialis tendon reflex.		hp.json	Areflexia of brachioradialis	http://purl.obolibrary.org/obo/HP_0033229							
HP:0033230	biolink:PhenotypicFeature	Biceps areflexia	Inability to elicit biceps tendon reflex.		hp.json	Areflexia of biceps	http://purl.obolibrary.org/obo/HP_0033230							
HP:0033231	biolink:PhenotypicFeature	Abnormal glomerular mesangial cellularity	Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033231							
HP:0033232	biolink:PhenotypicFeature	Abnormal glomerular mesangial matrix morphology	Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.		hp.json		http://purl.obolibrary.org/obo/HP_0033232							
HP:0033233	biolink:PhenotypicFeature	Paramesangial deposits	Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0033233							
HP:0033234	biolink:PhenotypicFeature	Mesangial hyaline deposition	Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.		hp.json		http://purl.obolibrary.org/obo/HP_0033234							
HP:0033235	biolink:PhenotypicFeature	Difficulty descending stairs	Reduced ability to desscend stairs.		hp.json	Difficulty walking down stairs	http://purl.obolibrary.org/obo/HP_0033235							
HP:0033236	biolink:PhenotypicFeature	Cognitive fatigue	A failure to sustain attention that requires self-motivation to optimize performance.		hp.json	Central fatigue	http://purl.obolibrary.org/obo/HP_0033236							
HP:0033237	biolink:PhenotypicFeature	Visceral epithelial cell detachment	Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.		hp.json	Detachment of visceral epithelial cells|Podocyte detachment	http://purl.obolibrary.org/obo/HP_0033237							
HP:0033238	biolink:PhenotypicFeature	Podocyte microvillous transformation	Cytoplasmic projections into the urinary space from the luminal side of the podocyte.		hp.json		http://purl.obolibrary.org/obo/HP_0033238							
HP:0033239	biolink:PhenotypicFeature	Visceral epithelial cell capping	Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.		hp.json	Podocyte cap	http://purl.obolibrary.org/obo/HP_0033239							
HP:0033240	biolink:PhenotypicFeature	Elevated RV/TLC ratio	An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.		hp.json	Hyperinflation on pulmonary function test|Overinflation on pulmonary function test	http://purl.obolibrary.org/obo/HP_0033240							
HP:0033241	biolink:PhenotypicFeature	Polyalveolar lobe	An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.		hp.json		http://purl.obolibrary.org/obo/HP_0033241							
HP:0033242	biolink:PhenotypicFeature	Horseshoe lung	A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.		hp.json		http://purl.obolibrary.org/obo/HP_0033242							
HP:0033243	biolink:PhenotypicFeature	Pulmonary necrosis	Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.		hp.json		http://purl.obolibrary.org/obo/HP_0033243							
HP:0033244	biolink:PhenotypicFeature	Glycogen accumulation in pulmonary interstitial cells	Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033244							
HP:0033245	biolink:PhenotypicFeature	Abnormal alveolar type II pneumocyte morphology	Any structural abnormality of alveolar type 2 (ATII) cells.		hp.json	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							
HP:0033246	biolink:PhenotypicFeature	Type II pneumocyte hypertrophy	Increase in size of type II pneumocytes.		hp.json	Hypertrophic alveolar type II cells|Hypertrophic alveolar type II pneumocytes	http://purl.obolibrary.org/obo/HP_0033246							
HP:0033247	biolink:PhenotypicFeature	Pulmonary amyloidosis	Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.		hp.json		http://purl.obolibrary.org/obo/HP_0033247							
HP:0033248	biolink:PhenotypicFeature	Multiple pulmonary interstitial hyalinized nodules	Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.		hp.json		http://purl.obolibrary.org/obo/HP_0033248							
HP:0033249	biolink:PhenotypicFeature	Focal substantia nigra T2 hyperintensity	Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.		hp.json	Focal substantia nigra T2 hyperintense lesion	http://purl.obolibrary.org/obo/HP_0033249							
HP:0033250	biolink:PhenotypicFeature	Nailfold capillary tortuosity	An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.		hp.json		http://purl.obolibrary.org/obo/HP_0033250							
HP:0033251	biolink:PhenotypicFeature	Elevated residual volume	Increase in the amount of air remaining in a person's lungs after full exhalation.		hp.json	Elevated RV	http://purl.obolibrary.org/obo/HP_0033251							
HP:0033252	biolink:PhenotypicFeature	Palmar hyperlinearity	Exaggerated skin markings (dermatoglyphics) on the palms of the hand.		hp.json		http://purl.obolibrary.org/obo/HP_0033252							
HP:0033253	biolink:PhenotypicFeature	Reduced circulating interferon gamma	A reduction in the concentration of interferon gamma measured in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033253							
HP:0033254	biolink:PhenotypicFeature	Anorectal stricture	Narrowing of the anorectum associated with inflammation or scar tissue.		hp.json	Stricture of the anorectum	http://purl.obolibrary.org/obo/HP_0033254							
HP:0033255	biolink:PhenotypicFeature	Congenital lobar overinflation	A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.		hp.json	Congenital lobar emphysema	http://purl.obolibrary.org/obo/HP_0033255							
HP:0033256	biolink:PhenotypicFeature	Pancolitis	Inflammation of the entire colon.		hp.json		http://purl.obolibrary.org/obo/HP_0033256							
HP:0033257	biolink:PhenotypicFeature	Delayed ability to walk with support	A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.		hp.json	Delayed ability to cruise	http://purl.obolibrary.org/obo/HP_0033257							
HP:0033258	biolink:PhenotypicFeature	Sudden unexpected death in epilepsy	Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.		hp.json	SUDEP	http://purl.obolibrary.org/obo/HP_0033258							
HP:0033259	biolink:PhenotypicFeature	Non-motor seizure	A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.		hp.json		http://purl.obolibrary.org/obo/HP_0033259							
HP:0033260	biolink:PhenotypicFeature	Livedo racemosa	Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.		hp.json		http://purl.obolibrary.org/obo/HP_0033260							
HP:0033261	biolink:PhenotypicFeature	Renal artery aneurysm	Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.		hp.json		http://purl.obolibrary.org/obo/HP_0033261							
HP:0033262	biolink:PhenotypicFeature	Transphyseal fracture of the distal humerus	A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.		hp.json	Transphyseal distal humerus fracture	http://purl.obolibrary.org/obo/HP_0033262							
HP:0033263	biolink:PhenotypicFeature	Absent platelet dense granules	Lack of platelet dense granules, a type of platelet organelles.		hp.json	Absent platelet dense bodies	http://purl.obolibrary.org/obo/HP_0033263							
HP:0033264	biolink:PhenotypicFeature	Enlarged platelet dense granules	Increased size of platelet dense granules.		hp.json		http://purl.obolibrary.org/obo/HP_0033264							
HP:0033265	biolink:PhenotypicFeature	Podocyte myelin figures	Lamellated intracytoplasmic lipid inclusions within podocytes.		hp.json	Podocyte myelin inclusions	http://purl.obolibrary.org/obo/HP_0033265							
HP:0033266	biolink:PhenotypicFeature	Glomerular pseudocrescent	Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.		hp.json		http://purl.obolibrary.org/obo/HP_0033266							
HP:0033267	biolink:PhenotypicFeature	Abnormal glomerular capillary lumen morphology	Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.		hp.json		http://purl.obolibrary.org/obo/HP_0033267							
HP:0033268	biolink:PhenotypicFeature	Deflation of the glomerular tuft	Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0033268							
HP:0033269	biolink:PhenotypicFeature	Glomerular capillary collapse	Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).		hp.json	Collapse of glomerular capillary walls	http://purl.obolibrary.org/obo/HP_0033269							
HP:0033270	biolink:PhenotypicFeature	Glomerular capillary congestion	Global distention of glomerular capillaries with intraluminal intact red blood cells.		hp.json	Glomerular congestion	http://purl.obolibrary.org/obo/HP_0033270							
HP:0033271	biolink:PhenotypicFeature	Glomerular capillary microaneurysm	Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.		hp.json		http://purl.obolibrary.org/obo/HP_0033271							
HP:0033272	biolink:PhenotypicFeature	Abnormal glomerular endothelial cell morphology	An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.		hp.json		http://purl.obolibrary.org/obo/HP_0033272							
HP:0033273	biolink:PhenotypicFeature	Loss of glomerular endothelial cell fenestration	Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.		hp.json		http://purl.obolibrary.org/obo/HP_0033273							
HP:0033274	biolink:PhenotypicFeature	Glomerular endotheliosis	Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0033274							
HP:0033275	biolink:PhenotypicFeature	Glomerular endothelial tubuloreticular inclusion	Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.		hp.json		http://purl.obolibrary.org/obo/HP_0033275							
HP:0033276	biolink:PhenotypicFeature	obsolete Glomerular endocapillary hypercellularity			hp.json		http://purl.obolibrary.org/obo/HP_0033276							
HP:0033277	biolink:PhenotypicFeature	Glomerular fibrinoid necrosis	Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.		hp.json		http://purl.obolibrary.org/obo/HP_0033277							
HP:0033278	biolink:PhenotypicFeature	Reduced CD95-induced lymphocyte apoptosis	Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033278							
HP:0033279	biolink:PhenotypicFeature	Enterocutaneous fistula	An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.		hp.json		http://purl.obolibrary.org/obo/HP_0033279							
HP:0033280	biolink:PhenotypicFeature	Paratracheal lymphadenopathy	Enlargement of lymph nodes surrounding the trachea.		hp.json		http://purl.obolibrary.org/obo/HP_0033280							
HP:0033281	biolink:PhenotypicFeature	Circulating nucleated red blood cells	The presence of nucleated red blood cells in the peripheral blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033281							
HP:0033282	biolink:PhenotypicFeature	Abnormal glomerular basement membrane morphology	Any abnormal sttructure of the glomerular basement membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0033282							
HP:0033283	biolink:PhenotypicFeature	Segmentally thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.		hp.json		http://purl.obolibrary.org/obo/HP_0033283							
HP:0033284	biolink:PhenotypicFeature	Diffusely thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.		hp.json		http://purl.obolibrary.org/obo/HP_0033284							
HP:0033285	biolink:PhenotypicFeature	Thickened glomerular basement membranes with no electron dense deposits	Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.		hp.json		http://purl.obolibrary.org/obo/HP_0033285							
HP:0033286	biolink:PhenotypicFeature	Thickened glomerular basement membranes with electron dense deposits			hp.json		http://purl.obolibrary.org/obo/HP_0033286							
HP:0033287	biolink:PhenotypicFeature	Glomerular basement membrane lucencies	Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.		hp.json		http://purl.obolibrary.org/obo/HP_0033287							
HP:0033288	biolink:PhenotypicFeature	Glomerular basement membrane spikes			hp.json		http://purl.obolibrary.org/obo/HP_0033288							
HP:0033289	biolink:PhenotypicFeature	Glomerular basement membrane wrinkling	Irregular folding of the glomerular basement membrane with an intact lamina densa.		hp.json		http://purl.obolibrary.org/obo/HP_0033289							
HP:0033290	biolink:PhenotypicFeature	Glomerular subendothelial widening	Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.		hp.json		http://purl.obolibrary.org/obo/HP_0033290							
HP:0033291	biolink:PhenotypicFeature	Glomerular karyhorrhectic debris	Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.		hp.json		http://purl.obolibrary.org/obo/HP_0033291							
HP:0033292	biolink:PhenotypicFeature	Glomerular fibrin thrombus	An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0033292							
HP:0033293	biolink:PhenotypicFeature	Glomerular hyaline pseudothrombus	Intracapillary amorphous, eosinophilic material consisting of immune deposits.		hp.json		http://purl.obolibrary.org/obo/HP_0033293							
HP:0033294	biolink:PhenotypicFeature	Glomerular lipoprotein thrombus	Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.		hp.json		http://purl.obolibrary.org/obo/HP_0033294							
HP:0033295	biolink:PhenotypicFeature	Mesangial Immune complex deposition	Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.		hp.json		http://purl.obolibrary.org/obo/HP_0033295							
HP:0033296	biolink:PhenotypicFeature	Binucleated visceral epithelial cells	Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.		hp.json	Binucleated podocytes	http://purl.obolibrary.org/obo/HP_0033296							
HP:0033297	biolink:PhenotypicFeature	Multinucleated visceral epithelial cells	Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.		hp.json	Multinucleated podocytes|Podocyte multinucleation	http://purl.obolibrary.org/obo/HP_0033297							
HP:0033298	biolink:PhenotypicFeature	Abnormal circulating complement factor H related protein 1 concentration	A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)		hp.json		http://purl.obolibrary.org/obo/HP_0033298							
HP:0033299	biolink:PhenotypicFeature	Reduced circulating complement factor H related protein 1 concentration	Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033299							
HP:0033300	biolink:PhenotypicFeature	Increased circulating complement factor H related protein 1 concentration	Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033300							
HP:0033301	biolink:PhenotypicFeature	Elevated circulating 1-methylhistidine concentration	An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.		hp.json		http://purl.obolibrary.org/obo/HP_0033301							
HP:0033302	biolink:PhenotypicFeature	Elevated circulating 4-hydroxyphenylacetic acid concentration	An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033302							
HP:0033303	biolink:PhenotypicFeature	Elevated urinary monocarboxylic acid level	Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.		hp.json		http://purl.obolibrary.org/obo/HP_0033303							
HP:0033304	biolink:PhenotypicFeature	Elevated urine 4-hydroxyphenylacetic acid level	Increased amount of 4-hydroxyphenylacetic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033304							
HP:0033305	biolink:PhenotypicFeature	Abnormal circulating fetuin A concentration	Any deviation from the normal concentration of fetuin A in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033305							
HP:0033306	biolink:PhenotypicFeature	Decreased circulating fetuin A concentration	A reduction below normal of fetuin A in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033306							
HP:0033307	biolink:PhenotypicFeature	Increased circulating fetuin A concentration	An elevation above normal of fetuin A in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033307							
HP:0033308	biolink:PhenotypicFeature	Patellar overgrowth	Excessive growth of the kneecap (patella).		hp.json		http://purl.obolibrary.org/obo/HP_0033308							
HP:0033309	biolink:PhenotypicFeature	Ileoileal intussusception	A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.		hp.json		http://purl.obolibrary.org/obo/HP_0033309							
HP:0033310	biolink:PhenotypicFeature	Osmotic diarrhea	Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.		hp.json		http://purl.obolibrary.org/obo/HP_0033310							
HP:0033311	biolink:PhenotypicFeature	Abdominal aortic dissection	A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.		hp.json		http://purl.obolibrary.org/obo/HP_0033311							
HP:0033312	biolink:PhenotypicFeature	Abnormal Bowman space morphology	Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.		hp.json		http://purl.obolibrary.org/obo/HP_0033312							
HP:0033313	biolink:PhenotypicFeature	Urinary space collagenization	Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.		hp.json	Collagenization of the urinary space	http://purl.obolibrary.org/obo/HP_0033313							
HP:0033314	biolink:PhenotypicFeature	Visceral epithelial cell hyperplasia	Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.		hp.json	Hyperplasia of visceral epithelial cells|Podocyte hyperplasia	http://purl.obolibrary.org/obo/HP_0033314							
HP:0033315	biolink:PhenotypicFeature	Visceral epithelial hyaline droplets	Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033315							
HP:0033316	biolink:PhenotypicFeature	Glomerular crescent formation	Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.		hp.json		http://purl.obolibrary.org/obo/HP_0033316							
HP:0033317	biolink:PhenotypicFeature	Cellular crescent	A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.		hp.json		http://purl.obolibrary.org/obo/HP_0033317							
HP:0033318	biolink:PhenotypicFeature	Fibrocellular crescent	A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.		hp.json		http://purl.obolibrary.org/obo/HP_0033318							
HP:0033319	biolink:PhenotypicFeature	Fibrous crescent	A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.		hp.json		http://purl.obolibrary.org/obo/HP_0033319							
HP:0033320	biolink:PhenotypicFeature	Mesangial cell loss	Loss of mesangial cells segmentally or globally.		hp.json		http://purl.obolibrary.org/obo/HP_0033320							
HP:0033321	biolink:PhenotypicFeature	Glomerular obsolescence	Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.		hp.json		http://purl.obolibrary.org/obo/HP_0033321							
HP:0033322	biolink:PhenotypicFeature	Glomerular capillary wall duplication without cellular interposition	Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.		hp.json		http://purl.obolibrary.org/obo/HP_0033322							
HP:0033323	biolink:PhenotypicFeature	Glomerular capillary wall duplication with cellular interposition	Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.		hp.json		http://purl.obolibrary.org/obo/HP_0033323							
HP:0033324	biolink:PhenotypicFeature	Elevated circulating homovanillic acid concentration	Increased concentration of homovanillic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033324							
HP:0033325	biolink:PhenotypicFeature	Elevated circulating sebacic acid concentration	Increased concentration of sebacic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033325							
HP:0033326	biolink:PhenotypicFeature	Elevated circulating hydroxyphenlyllactic acid concentration	An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033326							
HP:0033327	biolink:PhenotypicFeature	Nail psoriasis	Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.		hp.json		http://purl.obolibrary.org/obo/HP_0033327							
HP:0033328	biolink:PhenotypicFeature	Type II pneumocyte hyperplasia	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.json		http://purl.obolibrary.org/obo/HP_0033328							
HP:0033329	biolink:PhenotypicFeature	Abnormal postural reflex	Anomaly of the physiological response to maintain the body's posture when movement and position is altered.		hp.json	Abnormal postural reaction	http://purl.obolibrary.org/obo/HP_0033329							
HP:0033330	biolink:PhenotypicFeature	Impaired neck-righting reflex	Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.		hp.json		http://purl.obolibrary.org/obo/HP_0033330							
HP:0033331	biolink:PhenotypicFeature	Acute phase response	Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.		hp.json		http://purl.obolibrary.org/obo/HP_0033331							
HP:0033332	biolink:PhenotypicFeature	Elevated circulating amyloid A	An increased concentration of serum amyloid A in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033332							
HP:0033333	biolink:PhenotypicFeature	Jaw contracture	Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.		hp.json		http://purl.obolibrary.org/obo/HP_0033333							
HP:0033334	biolink:PhenotypicFeature	Abnormal embryonic development	An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.		hp.json		http://purl.obolibrary.org/obo/HP_0033334							
HP:0033335	biolink:PhenotypicFeature	Abnormal preimplantation embryonic development	An anomaly in the development of the embryo in a stage prior to implantation.		hp.json		http://purl.obolibrary.org/obo/HP_0033335							
HP:0033336	biolink:PhenotypicFeature	Zygotic cleavage failure	Failure of a fertilized oocyte to undergo the first round of cell division.		hp.json	Failure of zygotic cell division	http://purl.obolibrary.org/obo/HP_0033336							
HP:0033337	biolink:PhenotypicFeature	Abnormal gametogenesis	An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.		hp.json		http://purl.obolibrary.org/obo/HP_0033337							
HP:0033338	biolink:PhenotypicFeature	Abnormal female meiosis	Anomalous oocyte meiosis		hp.json		http://purl.obolibrary.org/obo/HP_0033338							
HP:0033339	biolink:PhenotypicFeature	Increased circulating inosine concentration	An increased concentration of inosine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033339							
HP:0033340	biolink:PhenotypicFeature	Increased circulating guanosine concentration	Increased concentration of guanosine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033340							
HP:0033341	biolink:PhenotypicFeature	Elevated circulating sitosterol concentration	An increased concentration of beta-sitosterol in the blood circulation.		hp.json	Elevated circulating beta-sitosterol concentration	http://purl.obolibrary.org/obo/HP_0033341							
HP:0033342	biolink:PhenotypicFeature	Anti-aquaporin 4 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.		hp.json	Anti-AQP4 antibody positivity	http://purl.obolibrary.org/obo/HP_0033342							
HP:0033343	biolink:PhenotypicFeature	Mucoid diarrhea	Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.		hp.json	Mucous diarrhoea|Mucous diarrhea	http://purl.obolibrary.org/obo/HP_0033343							
HP:0033344	biolink:PhenotypicFeature	Pleural cobblestoning	A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.		hp.json		http://purl.obolibrary.org/obo/HP_0033344							
HP:0033345	biolink:PhenotypicFeature	Neuralgia	Pain (An unpleasant sensory and emotional experience) along the course of a nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0033345							
HP:0033346	biolink:PhenotypicFeature	Psychic epileptic aura	Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.		hp.json	Psychic aura	http://purl.obolibrary.org/obo/HP_0033346							
HP:0033347	biolink:PhenotypicFeature	Cognitive epileptic aura	A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.		hp.json		http://purl.obolibrary.org/obo/HP_0033347							
HP:0033348	biolink:PhenotypicFeature	Epileptic aura	An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.		hp.json		http://purl.obolibrary.org/obo/HP_0033348							
HP:0033349	biolink:PhenotypicFeature	Seizure cluster	A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient.		hp.json	Acute repetitive seizures|Crescendo seizures|Cyclical seizures|Recurrent seizures|Seizure flurries|Serial seizures	http://purl.obolibrary.org/obo/HP_0033349							
HP:0033350	biolink:PhenotypicFeature	Elevated forced expiratory volume in one second	An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.		hp.json	Elevated FEV1	http://purl.obolibrary.org/obo/HP_0033350							
HP:0033351	biolink:PhenotypicFeature	Candida esophagitis	Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.		hp.json	Esophageal candidiasis	http://purl.obolibrary.org/obo/HP_0033351							
HP:0033352	biolink:PhenotypicFeature	Pulmonary hypertensive crisis	Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.		hp.json	Pulmonary arterial hypertension crisis	http://purl.obolibrary.org/obo/HP_0033352							
HP:0033353	biolink:PhenotypicFeature	Abnormal blood vessel morphology	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).		hp.json		http://purl.obolibrary.org/obo/HP_0033353							
HP:0033354	biolink:PhenotypicFeature	Abnormal urine metabolite level	Any deviation from the normal concentration of a metabolite in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033354							
HP:0033355	biolink:PhenotypicFeature	Increased urine deoxypyridinoline level	An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.		hp.json	Elevated urinary DPD	http://purl.obolibrary.org/obo/HP_0033355							
HP:0033356	biolink:PhenotypicFeature	Elevated circulating o-phosphoserine concentration	An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.		hp.json		http://purl.obolibrary.org/obo/HP_0033356							
HP:0033357	biolink:PhenotypicFeature	Limited head rotation	Reduced range of motion turning the head side to side.		hp.json		http://purl.obolibrary.org/obo/HP_0033357							
HP:0033358	biolink:PhenotypicFeature	Abnormal urine osmolality	A deviation from the normal range of concentration of particles in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033358							
HP:0033359	biolink:PhenotypicFeature	Hyperosthenuria	An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033359							
HP:0033360	biolink:PhenotypicFeature	Impaired ability to shift attention	A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.		hp.json	Impaired task shifting	http://purl.obolibrary.org/obo/HP_0033360							
HP:0033361	biolink:PhenotypicFeature	Nasal ulcer	An open sore of the nasal mucosa.		hp.json		http://purl.obolibrary.org/obo/HP_0033361							
HP:0033362	biolink:PhenotypicFeature	Recurrent coughing spasms	Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.		hp.json		http://purl.obolibrary.org/obo/HP_0033362							
HP:0033363	biolink:PhenotypicFeature	Hyaline membranes	Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.		hp.json		http://purl.obolibrary.org/obo/HP_0033363							
HP:0033364	biolink:PhenotypicFeature	Lipoid pneumonia	A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.		hp.json		http://purl.obolibrary.org/obo/HP_0033364							
HP:0033365	biolink:PhenotypicFeature	Endogenous lipoid pneumonia	A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.		hp.json		http://purl.obolibrary.org/obo/HP_0033365							
HP:0033366	biolink:PhenotypicFeature	Exogenous lipoid pneumonia	A type of lipoid pneumonia in which the source of the lipids is external to the body.		hp.json		http://purl.obolibrary.org/obo/HP_0033366							
HP:0033367	biolink:PhenotypicFeature	Orthodeoxia	Low level of blood oxygen induced by changing from a recumbent to an upright position.		hp.json		http://purl.obolibrary.org/obo/HP_0033367							
HP:0033368	biolink:PhenotypicFeature	Platypnea	A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.		hp.json		http://purl.obolibrary.org/obo/HP_0033368							
HP:0033369	biolink:PhenotypicFeature	Cavitating leukodystrophy	A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.		hp.json		http://purl.obolibrary.org/obo/HP_0033369							
HP:0033370	biolink:PhenotypicFeature	Bronchial telangiectasia	Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.		hp.json	Endobronchial telangiectasia	http://purl.obolibrary.org/obo/HP_0033370							
HP:0033371	biolink:PhenotypicFeature	Bronchocentric granulomatosis	Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.		hp.json		http://purl.obolibrary.org/obo/HP_0033371							
HP:0033372	biolink:PhenotypicFeature	Abnormal KCO	Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.		hp.json		http://purl.obolibrary.org/obo/HP_0033372							
HP:0033373	biolink:PhenotypicFeature	Increased KCO	Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).		hp.json		http://purl.obolibrary.org/obo/HP_0033373							
HP:0033374	biolink:PhenotypicFeature	Decreased KCO	Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).		hp.json		http://purl.obolibrary.org/obo/HP_0033374							
HP:0033375	biolink:PhenotypicFeature	Anthracosis	Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers.		hp.json		http://purl.obolibrary.org/obo/HP_0033375							
HP:0033376	biolink:PhenotypicFeature	Alveolar septal thickening	Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.		hp.json		http://purl.obolibrary.org/obo/HP_0033376							
HP:0033377	biolink:PhenotypicFeature	Increased airway neuroendocrine cells	Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).		hp.json		http://purl.obolibrary.org/obo/HP_0033377							
HP:0033378	biolink:PhenotypicFeature	Increased airway neuroepithelial bodies	Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.		hp.json		http://purl.obolibrary.org/obo/HP_0033378							
HP:0033379	biolink:PhenotypicFeature	Bilateral superior vena cava	The presence of a left and a right superior vena cava.		hp.json	Bilateral SVC	http://purl.obolibrary.org/obo/HP_0033379							
HP:0033380	biolink:PhenotypicFeature	Nasal chondritis	Inflammation of the cartilage of the nose.		hp.json	Nose chondritis	http://purl.obolibrary.org/obo/HP_0033380							
HP:0033381	biolink:PhenotypicFeature	Elevated circulating stearoylcarnitine concentration	Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033381							
HP:0033382	biolink:PhenotypicFeature	Elevated circulating palmitoylcarnitine concentration	Abnormally increased concentration of palmitoylcarnitine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033382							
HP:0033383	biolink:PhenotypicFeature	Decreased compound muscle action potential amplitude	Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.		hp.json	Decreased CMAP amplitude	http://purl.obolibrary.org/obo/HP_0033383							
HP:0033384	biolink:PhenotypicFeature	Elevated urinary collagen degradation products	Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.		hp.json		http://purl.obolibrary.org/obo/HP_0033384							
HP:0033385	biolink:PhenotypicFeature	Elevated urine pyridinoline level	An increased amount of pyridinoline in the urine.		hp.json	Elevated urine hydroxylysyl-pyridinoline level	http://purl.obolibrary.org/obo/HP_0033385							
HP:0033386	biolink:PhenotypicFeature	Abnormal circulating collagen degradation product concentration	Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.		hp.json		http://purl.obolibrary.org/obo/HP_0033386							
HP:0033387	biolink:PhenotypicFeature	Elevated circulating pyridinoline concentration	An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033387							
HP:0033388	biolink:PhenotypicFeature	Abnormal bronchial artery morphology	Any structural abnormality of a bronchial artery.		hp.json		http://purl.obolibrary.org/obo/HP_0033388							
HP:0033389	biolink:PhenotypicFeature	Bronchopulmonary anastomosis	Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.		hp.json		http://purl.obolibrary.org/obo/HP_0033389							
HP:0033390	biolink:PhenotypicFeature	Bronchial artery dilatation	Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.		hp.json	Bronchial artery enlargement|Dilatation of a bronchial artery	http://purl.obolibrary.org/obo/HP_0033390							
HP:0033391	biolink:PhenotypicFeature	Bronchial artery hypertrophy	Increase in the volume of bronchial artery wall due to the enlargement of its component cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033391							
HP:0033392	biolink:PhenotypicFeature	Perivascular pre-capillary pulmonary artery inflammation	Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).		hp.json	Perivascular inflammation of arterioles in the pulmonary circulation|Perivascular inflammation of pre-capillary pulmonary arteries	http://purl.obolibrary.org/obo/HP_0033392							
HP:0033393	biolink:PhenotypicFeature	Irregularly shaped sperm tail	Irregular or changing caliber (diameter) along the tail of the sperm.		hp.json	Sperm flagella with irregular calibre|Sperm flagella with irregular caliber	http://purl.obolibrary.org/obo/HP_0033393							
HP:0033394	biolink:PhenotypicFeature	Anti-carbonic anhydrase II antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.		hp.json		http://purl.obolibrary.org/obo/HP_0033394							
HP:0033395	biolink:PhenotypicFeature	Antilactoferrin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.		hp.json		http://purl.obolibrary.org/obo/HP_0033395							
HP:0033396	biolink:PhenotypicFeature	Glomerular extracapillary fibrin	Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.		hp.json		http://purl.obolibrary.org/obo/HP_0033396							
HP:0033397	biolink:PhenotypicFeature	Bowman-space proteinaceous debris	The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.		hp.json		http://purl.obolibrary.org/obo/HP_0033397							
HP:0033398	biolink:PhenotypicFeature	Pleural plaque	Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).		hp.json		http://purl.obolibrary.org/obo/HP_0033398							
HP:0033399	biolink:PhenotypicFeature	Persistent fever	Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.		hp.json		http://purl.obolibrary.org/obo/HP_0033399							
HP:0033400	biolink:PhenotypicFeature	Acute abdomen	A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.		hp.json	Acute abdominal pain	http://purl.obolibrary.org/obo/HP_0033400							
HP:0033401	biolink:PhenotypicFeature	Tissue ischemia	Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.		hp.json		http://purl.obolibrary.org/obo/HP_0033401							
HP:0033402	biolink:PhenotypicFeature	Digital ischemia	Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.		hp.json		http://purl.obolibrary.org/obo/HP_0033402							
HP:0033403	biolink:PhenotypicFeature	Testicular ischemia	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.json		http://purl.obolibrary.org/obo/HP_0033403							
HP:0033404	biolink:PhenotypicFeature	Intestinal ischemia	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.json		http://purl.obolibrary.org/obo/HP_0033404							
HP:0033405	biolink:PhenotypicFeature	Abnormal circulating organic amino compound concentration	Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.		hp.json		http://purl.obolibrary.org/obo/HP_0033405							
HP:0033406	biolink:PhenotypicFeature	Elevated circulating o-phosphoethanolamine concentration	An increased concentration of o-phosphoethanolamine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033406							
HP:0033407	biolink:PhenotypicFeature	Elevated urine acetoacetic acid level	Elevated amount of acetoacetic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033407							
HP:0033408	biolink:PhenotypicFeature	Elevated circulating acetoacetic acid concentration	An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.		hp.json		http://purl.obolibrary.org/obo/HP_0033408							
HP:0033409	biolink:PhenotypicFeature	Elevated urinary 2-hydroxybutyric acid	An increased amount of 2-hydroxybutyric acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033409							
HP:0033410	biolink:PhenotypicFeature	Elevated circulating cartilage oligomeric matrix protein concentration	An increased blood concentration of cartilage oligomeric matrix protein (COMP).		hp.json		http://purl.obolibrary.org/obo/HP_0033410							
HP:0033411	biolink:PhenotypicFeature	Lower extremity akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.		hp.json		http://purl.obolibrary.org/obo/HP_0033411							
HP:0033412	biolink:PhenotypicFeature	Upper extremity akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.		hp.json	Akinesia of the upper extremities	http://purl.obolibrary.org/obo/HP_0033412							
HP:0033413	biolink:PhenotypicFeature	Upper extremity hypokinesia	Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.		hp.json	Hypokinesia of the upper extremities	http://purl.obolibrary.org/obo/HP_0033413							
HP:0033414	biolink:PhenotypicFeature	Lower extremity hypokinesia	Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.		hp.json	Hypokinesia of the lower extremities	http://purl.obolibrary.org/obo/HP_0033414							
HP:0033415	biolink:PhenotypicFeature	Cardiac tamponade	The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.		hp.json		http://purl.obolibrary.org/obo/HP_0033415							
HP:0033416	biolink:PhenotypicFeature	Hip adductor weakness	Reduced ability to bring the leg toward the midline of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0033416							
HP:0033417	biolink:PhenotypicFeature	Elevated circulating hydroxybutyric acid concentration	An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.		hp.json		http://purl.obolibrary.org/obo/HP_0033417							
HP:0033418	biolink:PhenotypicFeature	Elevated circulating 2-hydroxybutyric acid concentration	Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.		hp.json		http://purl.obolibrary.org/obo/HP_0033418							
HP:0033419	biolink:PhenotypicFeature	Elevated circulating 3-hydroxybutyric acid concentration	Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.		hp.json		http://purl.obolibrary.org/obo/HP_0033419							
HP:0033420	biolink:PhenotypicFeature	Pulmonary arterial plexiform lesion	Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.		hp.json		http://purl.obolibrary.org/obo/HP_0033420							
HP:0033421	biolink:PhenotypicFeature	Pulmonary artery intimal thickening	Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.		hp.json		http://purl.obolibrary.org/obo/HP_0033421							
HP:0033422	biolink:PhenotypicFeature	Pulmonary artery adventitial fibrosis	Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.		hp.json		http://purl.obolibrary.org/obo/HP_0033422							
HP:0033423	biolink:PhenotypicFeature	Pulmonary arterial hypertension with positive acute response to NO challenge	A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.		hp.json		http://purl.obolibrary.org/obo/HP_0033423							
HP:0033424	biolink:PhenotypicFeature	Pulmonary arterial hypertension with lack of acute response to NO challenge	A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).		hp.json		http://purl.obolibrary.org/obo/HP_0033424							
HP:0033425	biolink:PhenotypicFeature	Periungual erythema	Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.		hp.json		http://purl.obolibrary.org/obo/HP_0033425							
HP:0033426	biolink:PhenotypicFeature	Pulmonary air embolism	Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.		hp.json	Venous air embolism	http://purl.obolibrary.org/obo/HP_0033426							
HP:0033427	biolink:PhenotypicFeature	Pulmonary capillary angioectasia	Focal accumulation of dilated pulmonary capillaries.		hp.json		http://purl.obolibrary.org/obo/HP_0033427							
HP:0033428	biolink:PhenotypicFeature	Systemic autoinflammation	Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.		hp.json		http://purl.obolibrary.org/obo/HP_0033428							
HP:0033429	biolink:PhenotypicFeature	Neuroinflammation	Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.		hp.json		http://purl.obolibrary.org/obo/HP_0033429							
HP:0033430	biolink:PhenotypicFeature	Non-infectious meningitis	Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.		hp.json		http://purl.obolibrary.org/obo/HP_0033430							
HP:0033431	biolink:PhenotypicFeature	Cytomegalovirus colitis	A form of cytomegalovirus infection characterized by infection and inflammation of the colon.		hp.json	CMV colitis	http://purl.obolibrary.org/obo/HP_0033431							
HP:0033432	biolink:PhenotypicFeature	Opportunistic viral infection			hp.json		http://purl.obolibrary.org/obo/HP_0033432							
HP:0033433	biolink:PhenotypicFeature	Ileocecal ulcer	An erosion of the mucous membrane in the region connecting the ileum and cecum.		hp.json	Ileo-cecal ulcer	http://purl.obolibrary.org/obo/HP_0033433							
HP:0033434	biolink:PhenotypicFeature	Nasal septum perforation	A full-thickness defect of the nasal septum.		hp.json	Nasal-septum perforation|Perforation of the nasal septum	http://purl.obolibrary.org/obo/HP_0033434							
HP:0033435	biolink:PhenotypicFeature	Abnormal circulating keto acid concentration	A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.		hp.json		http://purl.obolibrary.org/obo/HP_0033435							
HP:0033436	biolink:PhenotypicFeature	Elevated circulating 3-methyl-2-oxovaleric acid concentration	An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033436							
HP:0033437	biolink:PhenotypicFeature	Elevated circulating 4-methyl-2-oxopentanoic acid concentration	Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation.		hp.json	Increased circulating alpha-ketoisocaproic acid concentration	http://purl.obolibrary.org/obo/HP_0033437							
HP:0033438	biolink:PhenotypicFeature	Elevated circulating myoglobin concentration	An increased blood concentration of myoglobin.		hp.json		http://purl.obolibrary.org/obo/HP_0033438							
HP:0033439	biolink:PhenotypicFeature	Elevated circulating decenoylcarnitine concentration	Increased concentration of decenoylcarnitine in the blood circulation.		hp.json	Elevated circulating O-decenoylcarnitine concentration|Elevated plasma decenoylcarnitine, C10:1	http://purl.obolibrary.org/obo/HP_0033439							
HP:0033440	biolink:PhenotypicFeature	Elevated circulating octenoylcarnitine concentration	Increased concentration of octenoylcarnitine in the blood circulation.		hp.json	Elevated circulating O-octenoylcarnitine concentration|Elevated plasma octenoylcarnitine, C8:1	http://purl.obolibrary.org/obo/HP_0033440							
HP:0033441	biolink:PhenotypicFeature	Elevated circulating hexanoylcarnitine concentration	Increased concentration of hexanoylcarnitine in the blood circulation.		hp.json	Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0	http://purl.obolibrary.org/obo/HP_0033441							
HP:0033442	biolink:PhenotypicFeature	Elevated circulating glutarylcarnitine concentration	Increased concentration of glutarylcarnitine in the blood circulation.		hp.json	Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC	http://purl.obolibrary.org/obo/HP_0033442							
HP:0033443	biolink:PhenotypicFeature	Elevated circulating propionylcarnitine concentration	Increased concentration of propionylcarnitine in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033443							
HP:0033444	biolink:PhenotypicFeature	Elevated circulating dodecanoylcarnitine concentration	Increased concentration of dodecanoylcarnitine in the blood circulation.		hp.json	Elevated circulating O-dodecanoylcarnitine concentration|Elevated plasma dodecanoylcarnitine, C12:0	http://purl.obolibrary.org/obo/HP_0033444							
HP:0033445	biolink:PhenotypicFeature	Reduced circulating acylcarnitine concentration	An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.		hp.json		http://purl.obolibrary.org/obo/HP_0033445							
HP:0033446	biolink:PhenotypicFeature	Elevated circulating butyrylcarnitine concentration	Increased concentration of O-butyrylcarnitine in the blood circulation.		hp.json	Elevated circulating O-butyrylcarnitine concentration	http://purl.obolibrary.org/obo/HP_0033446							
HP:0033447	biolink:PhenotypicFeature	Elevated circulating isovalerylcarnitine concentration	Increased concentration of O-isovalerylcarnitine in the blood circulation.		hp.json	Elevated circulating O-isovalerylcarnitine concentration	http://purl.obolibrary.org/obo/HP_0033447							
HP:0033448	biolink:PhenotypicFeature	Increased mid-arm muscle circumference	Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.		hp.json		http://purl.obolibrary.org/obo/HP_0033448							
HP:0033449	biolink:PhenotypicFeature	Decreased mid-arm muscle circumference	Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.		hp.json		http://purl.obolibrary.org/obo/HP_0033449							
HP:0033450	biolink:PhenotypicFeature	Abnormal circulating prealbumin concentration	Any deviation from normal concentration of albumin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033450							
HP:0033451	biolink:PhenotypicFeature	Increased circulating prealbumin concentration	An elevation above the normal concentration of prealbumin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033451							
HP:0033452	biolink:PhenotypicFeature	Decreased circulating prealbumin concentration	A reduction from the normal concentration of prealbumin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033452							
HP:0033453	biolink:PhenotypicFeature	Limited neck extension	Reduced abilty to move the head back towards the ceiling so that one is looking upwards.		hp.json		http://purl.obolibrary.org/obo/HP_0033453							
HP:0033454	biolink:PhenotypicFeature	Tube feeding	Feeding problem necessitating food and nutrient delivery via a tube.		hp.json		http://purl.obolibrary.org/obo/HP_0033454							
HP:0033455	biolink:PhenotypicFeature	Elevated urinary dicarboxylic acid level	Increased amount of a dicarboxylic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033455							
HP:0033456	biolink:PhenotypicFeature	Elevated urine keto acid level	Increased amount of a keta acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033456							
HP:0033457	biolink:PhenotypicFeature	Elevated urine 3-methyl-2-oxovaleric acid level	Increased amount of 3-methyl-2-oxovaleric acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033457							
HP:0033458	biolink:PhenotypicFeature	Elevated urine 4-methyl-2-oxopentanoic acid level	Increased amount of 4-methyl-2-oxopentanoic acid in the urine.		hp.json	Increased urine alpha-ketoisocaproic acid level	http://purl.obolibrary.org/obo/HP_0033458							
HP:0033459	biolink:PhenotypicFeature	Decreased circulating apolipoprotein concentration	Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).		hp.json	Decreased apolipoprotein level	http://purl.obolibrary.org/obo/HP_0033459							
HP:0033460	biolink:PhenotypicFeature	Increased circulating apolipoprotein circulation	Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).		hp.json		http://purl.obolibrary.org/obo/HP_0033460							
HP:0033461	biolink:PhenotypicFeature	Elevated circulating 3-hydroxylinoleylcarnitine concentration	Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.		hp.json	Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH	http://purl.obolibrary.org/obo/HP_0033461							
HP:0033462	biolink:PhenotypicFeature	Elevated circulating oleylcarnitine concentration	Increased concentration of oleylcarnitine in the blood circulation.		hp.json	Elevated plasma oleylcarnitine, C18:1	http://purl.obolibrary.org/obo/HP_0033462							
HP:0033463	biolink:PhenotypicFeature	obsolete Elevated circulating palmitoleylcarnitine concentration			hp.json		http://purl.obolibrary.org/obo/HP_0033463							
HP:0033464	biolink:PhenotypicFeature	Elevated circulating 3-hydroxypalmitoleylcarnitine concentration	Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation.		hp.json	Elevated circulating 3-OH-palmitoleylcarnitine concentration|Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH	http://purl.obolibrary.org/obo/HP_0033464							
HP:0033465	biolink:PhenotypicFeature	Elevated circulating tetradecanolycarnitine concentration	Elevated circulating tetradecanoyl concentration.		hp.json		http://purl.obolibrary.org/obo/HP_0033465							
HP:0033466	biolink:PhenotypicFeature	Weak grip	Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.		hp.json		http://purl.obolibrary.org/obo/HP_0033466							
HP:0033467	biolink:PhenotypicFeature	Low 10-minute APGAR score	A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.		hp.json		http://purl.obolibrary.org/obo/HP_0033467							
HP:0033468	biolink:PhenotypicFeature	10-minute APGAR score of 0			hp.json		http://purl.obolibrary.org/obo/HP_0033468							
HP:0033469	biolink:PhenotypicFeature	10-minute APGAR score of 1			hp.json		http://purl.obolibrary.org/obo/HP_0033469							
HP:0033470	biolink:PhenotypicFeature	10-minute APGAR score of 2			hp.json		http://purl.obolibrary.org/obo/HP_0033470							
HP:0033471	biolink:PhenotypicFeature	10-minute APGAR score of 3			hp.json		http://purl.obolibrary.org/obo/HP_0033471							
HP:0033472	biolink:PhenotypicFeature	10-minute APGAR score of 4			hp.json		http://purl.obolibrary.org/obo/HP_0033472							
HP:0033473	biolink:PhenotypicFeature	10-minute APGAR score of 5			hp.json		http://purl.obolibrary.org/obo/HP_0033473							
HP:0033474	biolink:PhenotypicFeature	10-minute APGAR score of 6			hp.json		http://purl.obolibrary.org/obo/HP_0033474							
HP:0033475	biolink:PhenotypicFeature	Limited shoulder abduction	Decreased ability to move the arm away from the midline of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0033475							
HP:0033476	biolink:PhenotypicFeature	Extractable nuclear antigen positivity	The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.		hp.json		http://purl.obolibrary.org/obo/HP_0033476							
HP:0033477	biolink:PhenotypicFeature	Abnormal circulating lipoprotein lipase concentration	A deviation from the normal concentration of lipoprotein lipase in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033477							
HP:0033478	biolink:PhenotypicFeature	Increased circulating lipoprotein lipase concentration	Increased concentration of lipoprotein lipase in the blood circulation.		hp.json	Elevated lipoprotein lipase level	http://purl.obolibrary.org/obo/HP_0033478							
HP:0033479	biolink:PhenotypicFeature	Abnormal circulating bilirubin concentration			hp.json		http://purl.obolibrary.org/obo/HP_0033479							
HP:0033480	biolink:PhenotypicFeature	Hypobilirubinemia	Decreased circulation of bilirubin in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033480							
HP:0033481	biolink:PhenotypicFeature	Limited lateral neck flexion	Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.		hp.json		http://purl.obolibrary.org/obo/HP_0033481							
HP:0033482	biolink:PhenotypicFeature	Limited shoulder flexion	A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.		hp.json		http://purl.obolibrary.org/obo/HP_0033482							
HP:0033483	biolink:PhenotypicFeature	Podocyte infolding	Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.		hp.json		http://purl.obolibrary.org/obo/HP_0033483							
HP:0033484	biolink:PhenotypicFeature	Elevated circulating linoleylcarnitine concentration	Increased concentration of linoleylcarnitine in the blood circulation.		hp.json	Elevated plasma linoleylcarnitine, C18:2	http://purl.obolibrary.org/obo/HP_0033484							
HP:0033485	biolink:PhenotypicFeature	Glomerular basement membrane disruption	A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.		hp.json	Disruption of the glomerular basement membrane|Glomerular basement membrane rupture	http://purl.obolibrary.org/obo/HP_0033485							
HP:0033486	biolink:PhenotypicFeature	Abnormal glomerular basement membrane texture	Anomalous appearance or structure of the surface of the glomerular basement membrane.		hp.json		http://purl.obolibrary.org/obo/HP_0033486							
HP:0033487	biolink:PhenotypicFeature	Glomerular basement membranes powdery deposit	Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.		hp.json	Glomerular basement membranes with powdery deposit	http://purl.obolibrary.org/obo/HP_0033487							
HP:0033488	biolink:PhenotypicFeature	Glomerular endocapillary leukocyte hypercellularity	Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.		hp.json	Glomerular endocapillary hypercellularity consisting of leukocytes	http://purl.obolibrary.org/obo/HP_0033488							
HP:0033489	biolink:PhenotypicFeature	Glomerular endocapillary neutrophil hypercellularity	Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.		hp.json		http://purl.obolibrary.org/obo/HP_0033489							
HP:0033490	biolink:PhenotypicFeature	Glomerular endocapillary foam-cell hypercellularity	Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.		hp.json		http://purl.obolibrary.org/obo/HP_0033490							
HP:0033491	biolink:PhenotypicFeature	Global mesangial sclerosis	A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).		hp.json		http://purl.obolibrary.org/obo/HP_0033491							
HP:0033492	biolink:PhenotypicFeature	Podocyte cytoskeletal condensation	Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.		hp.json		http://purl.obolibrary.org/obo/HP_0033492							
HP:0033493	biolink:PhenotypicFeature	Mesangial matrix expansion	Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.		hp.json	Increased glomerular mesangial matrix	http://purl.obolibrary.org/obo/HP_0033493							
HP:0033494	biolink:PhenotypicFeature	Glomerular basement membrane amyloid spicule	Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.		hp.json		http://purl.obolibrary.org/obo/HP_0033494							
HP:0033495	biolink:PhenotypicFeature	Segmental glomerulosclerosis	Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule.		hp.json		http://purl.obolibrary.org/obo/HP_0033495							
HP:0033496	biolink:PhenotypicFeature	Perihilar segmental glomerulosclerosis	Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.		hp.json	Segmental glomerulosclerosis, perihilar pattern	http://purl.obolibrary.org/obo/HP_0033496							
HP:0033497	biolink:PhenotypicFeature	Tip variant segmental glomerulosclerosis	Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.		hp.json	Segmental glomerulosclerosis, tip variant	http://purl.obolibrary.org/obo/HP_0033497							
HP:0033498	biolink:PhenotypicFeature	Segmental glomerulosclerosis away from the vascular and tubular poles	Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.		hp.json		http://purl.obolibrary.org/obo/HP_0033498							
HP:0033499	biolink:PhenotypicFeature	Glomerular basement membrane electron dense deposits	Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.		hp.json		http://purl.obolibrary.org/obo/HP_0033499							
HP:0033500	biolink:PhenotypicFeature	Subendothelial glomerular basement membrane electron dense deposits	Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.		hp.json		http://purl.obolibrary.org/obo/HP_0033500							
HP:0033501	biolink:PhenotypicFeature	Subepithelial glomerular basement membrane electron dense deposits	Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.		hp.json		http://purl.obolibrary.org/obo/HP_0033501							
HP:0033502	biolink:PhenotypicFeature	Abnormal esterified to free carnitine ratio	Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.		hp.json		http://purl.obolibrary.org/obo/HP_0033502							
HP:0033503	biolink:PhenotypicFeature	Elevated CSF fumarate	An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0033503							
HP:0033504	biolink:PhenotypicFeature	Elevated circulating fumarate concentration	An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033504							
HP:0033505	biolink:PhenotypicFeature	Livedo reticularis	Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.		hp.json		http://purl.obolibrary.org/obo/HP_0033505							
HP:0033506	biolink:PhenotypicFeature	Increased esterified to free carnitine ratio	An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.		hp.json		http://purl.obolibrary.org/obo/HP_0033506							
HP:0033507	biolink:PhenotypicFeature	Decreased esterified to free carnitine ratio	A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.		hp.json		http://purl.obolibrary.org/obo/HP_0033507							
HP:0033508	biolink:PhenotypicFeature	EBV meningitis	Inflammation of the meninges related to infection by Epstein-Barr virus.		hp.json	Epstein-Barr virus meningitis	http://purl.obolibrary.org/obo/HP_0033508							
HP:0033509	biolink:PhenotypicFeature	EBV encephalitis	Inflamation of the brain related to infection by Epstein-Barr virus.		hp.json	Epstein-Barr virus encephalitis	http://purl.obolibrary.org/obo/HP_0033509							
HP:0033510	biolink:PhenotypicFeature	Cutaneous horn	A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.		hp.json	Cornu cutaneum	http://purl.obolibrary.org/obo/HP_0033510							
HP:0033511	biolink:PhenotypicFeature	Drug addiction	Chronic compulsive drug seeking and continued use despite harmful consequences.		hp.json		http://purl.obolibrary.org/obo/HP_0033511							
HP:0033512	biolink:PhenotypicFeature	Stimulant addiction	Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing.		hp.json	Stimulant dependence	http://purl.obolibrary.org/obo/HP_0033512							
HP:0033513	biolink:PhenotypicFeature	Cocaine addiction	Addiction to cocaine.		hp.json	Cocaine dependence	http://purl.obolibrary.org/obo/HP_0033513							
HP:0033514	biolink:PhenotypicFeature	Amphetamine addiction	Addiction to amphetamine or dextroamphetamine.		hp.json	Amphetamine dependence|Dextroamphetamine addiction|Dextroamphetamine dependence	http://purl.obolibrary.org/obo/HP_0033514							
HP:0033515	biolink:PhenotypicFeature	Opioid addiction	Addiction to opioids.		hp.json	Opioid dependence	http://purl.obolibrary.org/obo/HP_0033515							
HP:0033516	biolink:PhenotypicFeature	Benzodiazepine addiction	Addiction to a benzodiazepine.		hp.json	Benzodiazepine dependence	http://purl.obolibrary.org/obo/HP_0033516							
HP:0033517	biolink:PhenotypicFeature	Heroin addiction	Addiction to heroin.		hp.json	Heroin dependence	http://purl.obolibrary.org/obo/HP_0033517							
HP:0033518	biolink:PhenotypicFeature	Methylphenidate addiction	Addiction to methylphenidate.		hp.json	Methylphenidate dependence	http://purl.obolibrary.org/obo/HP_0033518							
HP:0033519	biolink:PhenotypicFeature	Methamphetamine addiction	Addiction to methamphetamine.		hp.json	Methamphetamine dependence	http://purl.obolibrary.org/obo/HP_0033519							
HP:0033520	biolink:PhenotypicFeature	Paradoxical embolism	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.json		http://purl.obolibrary.org/obo/HP_0033520							
HP:0033521	biolink:PhenotypicFeature	Nasal dryness	A lack of humidification of the nasal mucosa.		hp.json		http://purl.obolibrary.org/obo/HP_0033521							
HP:0033522	biolink:PhenotypicFeature	Cerebral cavernous malformation	A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.		hp.json		http://purl.obolibrary.org/obo/HP_0033522							
HP:0033523	biolink:PhenotypicFeature	Abnormal sperm principal piece morphology	A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.		hp.json		http://purl.obolibrary.org/obo/HP_0033523							
HP:0033524	biolink:PhenotypicFeature	Abnormal sperm axoneme morphology	Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.		hp.json		http://purl.obolibrary.org/obo/HP_0033524							
HP:0033525	biolink:PhenotypicFeature	Absent sperm axoneme central pair complex	Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.		hp.json	Absent central pair complex (9+0 pattern)	http://purl.obolibrary.org/obo/HP_0033525							
HP:0033526	biolink:PhenotypicFeature	Limited ankle dorsiflexion	Reduced ability to move the foot up toward the shin.		hp.json		http://purl.obolibrary.org/obo/HP_0033526							
HP:0033527	biolink:PhenotypicFeature	Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio	A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).		hp.json	Decreased plasma testosterone-to-androstenedione ratio	http://purl.obolibrary.org/obo/HP_0033527							
HP:0033528	biolink:PhenotypicFeature	Abnormal cardiac output	A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.		hp.json		http://purl.obolibrary.org/obo/HP_0033528							
HP:0033529	biolink:PhenotypicFeature	Abnormal cardiac index	Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.		hp.json		http://purl.obolibrary.org/obo/HP_0033529							
HP:0033530	biolink:PhenotypicFeature	Increased cardiac index	An elevated cardiac index, defined as cardiac output divided by body surface area.		hp.json		http://purl.obolibrary.org/obo/HP_0033530							
HP:0033531	biolink:PhenotypicFeature	Decreased cardiac index	A reduced cardiac index, defined as cardiac output divided by body surface area.		hp.json		http://purl.obolibrary.org/obo/HP_0033531							
HP:0033532	biolink:PhenotypicFeature	Decreased cardiac output	A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.		hp.json		http://purl.obolibrary.org/obo/HP_0033532							
HP:0033533	biolink:PhenotypicFeature	Increased cardiac output	An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.		hp.json		http://purl.obolibrary.org/obo/HP_0033533							
HP:0033534	biolink:PhenotypicFeature	Increased circulating brain natriuretic peptide concentration	An increased concentration of brain natriuretic peptide in the blood circulation.		hp.json	Elevated circulating BNP concentration|Increased B-type natriuretic peptide|Increased ventricular natriuretic peptide	http://purl.obolibrary.org/obo/HP_0033534							
HP:0033535	biolink:PhenotypicFeature	Reduced platelet dense granules	Decreased number of platelet dense granules, a type of platelet organelle.		hp.json		http://purl.obolibrary.org/obo/HP_0033535							
HP:0033536	biolink:PhenotypicFeature	Reduced platelet alpha granules	A reduced number of platelet alpha granules.		hp.json		http://purl.obolibrary.org/obo/HP_0033536							
HP:0033537	biolink:PhenotypicFeature	Mosaic pulmonary attenuation pattern	Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.		hp.json		http://purl.obolibrary.org/obo/HP_0033537							
HP:0033538	biolink:PhenotypicFeature	Aortic annulus calcification	Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.		hp.json	Aortic annular calcification	http://purl.obolibrary.org/obo/HP_0033538							
HP:0033539	biolink:PhenotypicFeature	Bilateral apical pulmonary fibrosis	A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.		hp.json		http://purl.obolibrary.org/obo/HP_0033539							
HP:0033540	biolink:PhenotypicFeature	Reversible airflow obstruction	Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.		hp.json	Reversible pulmonary obstruction	http://purl.obolibrary.org/obo/HP_0033540							
HP:0033541	biolink:PhenotypicFeature	Irreversible airflow obstruction	Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.		hp.json	Irreversible pulmonary obstruction	http://purl.obolibrary.org/obo/HP_0033541							
HP:0033542	biolink:PhenotypicFeature	Bronchial wall thickening	Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.		hp.json	Peribronchial cuffing|Peribronchial thickening	http://purl.obolibrary.org/obo/HP_0033542							
HP:0033543	biolink:PhenotypicFeature	Nicotine addiction	Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences.		hp.json	Nicotine dependence	http://purl.obolibrary.org/obo/HP_0033543							
HP:0033544	biolink:PhenotypicFeature	Mesangial fibril deposition	Extracellular mesangial accumulation of slender proteinaceous fibers.		hp.json		http://purl.obolibrary.org/obo/HP_0033544							
HP:0033545	biolink:PhenotypicFeature	Mesangial fibrillary deposits	Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.		hp.json		http://purl.obolibrary.org/obo/HP_0033545							
HP:0033546	biolink:PhenotypicFeature	Mesangial microfibril deposition	Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.		hp.json		http://purl.obolibrary.org/obo/HP_0033546							
HP:0033547	biolink:PhenotypicFeature	Mesangial immunotactoid deposits	Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.		hp.json		http://purl.obolibrary.org/obo/HP_0033547							
HP:0033548	biolink:PhenotypicFeature	Mesangial amyloid deposition	Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.		hp.json		http://purl.obolibrary.org/obo/HP_0033548							
HP:0033549	biolink:PhenotypicFeature	Nodular mesangiosclerosis	Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.		hp.json		http://purl.obolibrary.org/obo/HP_0033549							
HP:0033550	biolink:PhenotypicFeature	Necrotizing pulmonary granulomatosis	A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.		hp.json	Caseating pulmonary granulomatosis	http://purl.obolibrary.org/obo/HP_0033550							
HP:0033551	biolink:PhenotypicFeature	Non-necrotizing pulmonary granulomatosis	A granuloma located in the lung that is not associated with necrotic changes.		hp.json	Non-caseating pulmonary granulomatosis	http://purl.obolibrary.org/obo/HP_0033551							
HP:0033552	biolink:PhenotypicFeature	Chronic villitis	Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.		hp.json	Villitis of unknown aetiology|Chronic villitis (non-infectious)|Nonspecific chronic villitis|Villitis of unknown etiology	http://purl.obolibrary.org/obo/HP_0033552							
HP:0033553	biolink:PhenotypicFeature	Septic embolism	Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.		hp.json	Septic emboli	http://purl.obolibrary.org/obo/HP_0033553							
HP:0033554	biolink:PhenotypicFeature	Anti-Mi2 antibody positivity	The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.		hp.json		http://purl.obolibrary.org/obo/HP_0033554							
HP:0033555	biolink:PhenotypicFeature	Anti-Ro/SS-A antibody positivity	The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.		hp.json		http://purl.obolibrary.org/obo/HP_0033555							
HP:0033556	biolink:PhenotypicFeature	Anti-nucleoporin 62 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.		hp.json	Anti-p62 antibody positivity	http://purl.obolibrary.org/obo/HP_0033556							
HP:0033557	biolink:PhenotypicFeature	Anti-proteinase 3 antibody positivity	The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils		hp.json	Anti-PR3 antibody positivity	http://purl.obolibrary.org/obo/HP_0033557							
HP:0033558	biolink:PhenotypicFeature	Anti-histone antibody positivity	The presence of autoantibodies in the blood circulation that react against histone antigens.		hp.json		http://purl.obolibrary.org/obo/HP_0033558							
HP:0033559	biolink:PhenotypicFeature	Anti-myeloperoxidase antibody positivity	The presence of autoantibodies in the blood circulation that react against myeloperoxidase.		hp.json	Anti-MPO antibody positivity	http://purl.obolibrary.org/obo/HP_0033559							
HP:0033560	biolink:PhenotypicFeature	Anti-PM-Scl antibody positivity	Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.		hp.json		http://purl.obolibrary.org/obo/HP_0033560							
HP:0033561	biolink:PhenotypicFeature	Anti-bactericidal/permeability-increasing protein antibody positivity	The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa.  BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.		hp.json	Anti-BPI antibody positivity	http://purl.obolibrary.org/obo/HP_0033561							
HP:0033562	biolink:PhenotypicFeature	Anti-glycoprotein-210 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.		hp.json	Anti-gp210 antibody positivity	http://purl.obolibrary.org/obo/HP_0033562							
HP:0033563	biolink:PhenotypicFeature	Anti-tissue transglutaminase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.		hp.json	Anti-tTG antibody positivity	http://purl.obolibrary.org/obo/HP_0033563							
HP:0033564	biolink:PhenotypicFeature	Stasis dermatitis	Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.		hp.json	Varicose eczema|Venous eczema	http://purl.obolibrary.org/obo/HP_0033564							
HP:0033565	biolink:PhenotypicFeature	Anti-epidermal transglutaminase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.		hp.json	Anti-eTG antibody positivity|Anti-TG3 antibody|Anti-epidermal transglutaminase (anti-eTG) antibody|Anti-keratinocyte transglutaminase	http://purl.obolibrary.org/obo/HP_0033565							
HP:0033566	biolink:PhenotypicFeature	Abnormal ventricular axis	Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.		hp.json	Abnormal QRS axis	http://purl.obolibrary.org/obo/HP_0033566							
HP:0033567	biolink:PhenotypicFeature	Right axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.		hp.json	RAD|Electrical right axis deviation	http://purl.obolibrary.org/obo/HP_0033567							
HP:0033568	biolink:PhenotypicFeature	Left axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.		hp.json	Electrical left axis deviation	http://purl.obolibrary.org/obo/HP_0033568							
HP:0033569	biolink:PhenotypicFeature	Extreme axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.		hp.json		http://purl.obolibrary.org/obo/HP_0033569							
HP:0033570	biolink:PhenotypicFeature	Indeterminate ventricular axis	A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.		hp.json		http://purl.obolibrary.org/obo/HP_0033570							
HP:0033571	biolink:PhenotypicFeature	Peripheral lung neovascularity	The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.		hp.json		http://purl.obolibrary.org/obo/HP_0033571							
HP:0033572	biolink:PhenotypicFeature	Anti-H1 antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H1.		hp.json		http://purl.obolibrary.org/obo/HP_0033572							
HP:0033573	biolink:PhenotypicFeature	Anti-H4 antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H4.		hp.json		http://purl.obolibrary.org/obo/HP_0033573							
HP:0033574	biolink:PhenotypicFeature	Anti-H3 antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H3.		hp.json		http://purl.obolibrary.org/obo/HP_0033574							
HP:0033575	biolink:PhenotypicFeature	Anti-H2A antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H2A.		hp.json		http://purl.obolibrary.org/obo/HP_0033575							
HP:0033576	biolink:PhenotypicFeature	Anti-H2B antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H2B.		hp.json		http://purl.obolibrary.org/obo/HP_0033576							
HP:0033577	biolink:PhenotypicFeature	In situ pulmonary artery thrombosis	Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.		hp.json		http://purl.obolibrary.org/obo/HP_0033577							
HP:0033578	biolink:PhenotypicFeature	Pre-capillary pulmonary hypertension	Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).		hp.json	Precapillary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0033578							
HP:0033579	biolink:PhenotypicFeature	Decreased growth hormone responses to growth hormone-releasing hormone challenge	Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.		hp.json	Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge	http://purl.obolibrary.org/obo/HP_0033579							
HP:0033580	biolink:PhenotypicFeature	Compound motor action potential abnormality	An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).		hp.json		http://purl.obolibrary.org/obo/HP_0033580							
HP:0033581	biolink:PhenotypicFeature	Absent peripheral lymph nodes in presence of infection	The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.		hp.json		http://purl.obolibrary.org/obo/HP_0033581							
HP:0033582	biolink:PhenotypicFeature	Pulmonary interstitial lymphocyte infiltration	Abnormal accumulation of lymphocytes in the interstitium of the lung.		hp.json		http://purl.obolibrary.org/obo/HP_0033582							
HP:0033583	biolink:PhenotypicFeature	Follicular bronchiolitis	Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.		hp.json		http://purl.obolibrary.org/obo/HP_0033583							
HP:0033584	biolink:PhenotypicFeature	Nonspecific interstitial pneumonia	Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.		hp.json	NSIP|Nonspecific interstitial pneumonitis|Temporally uniform pulmonary inflammation	http://purl.obolibrary.org/obo/HP_0033584							
HP:0033585	biolink:PhenotypicFeature	Fibrotic non-specific interstitial pneumonia	A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.		hp.json		http://purl.obolibrary.org/obo/HP_0033585							
HP:0033586	biolink:PhenotypicFeature	Cellular non-specific interstitial pneumonia	A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.		hp.json		http://purl.obolibrary.org/obo/HP_0033586							
HP:0033587	biolink:PhenotypicFeature	Vulvar abscess	A circumscribed area of pus or necrotic debris in the vulvar region.		hp.json		http://purl.obolibrary.org/obo/HP_0033587							
HP:0033588	biolink:PhenotypicFeature	Labial adhesion	Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.		hp.json	Labial agglutination|Synechia vulvae	http://purl.obolibrary.org/obo/HP_0033588							
HP:0033589	biolink:PhenotypicFeature	Flatulence	Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.		hp.json		http://purl.obolibrary.org/obo/HP_0033589							
HP:0033590	biolink:PhenotypicFeature	Inguinal abscess	A circumscribed area of pus or necrotic debris in the groin (inguinal region).		hp.json	Groin abscess	http://purl.obolibrary.org/obo/HP_0033590							
HP:0033591	biolink:PhenotypicFeature	Staghorn calculus	Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.		hp.json	Staghorn renal stone	http://purl.obolibrary.org/obo/HP_0033591							
HP:0033592	biolink:PhenotypicFeature	Anti-H3-H4 antibody positivity	The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.		hp.json		http://purl.obolibrary.org/obo/HP_0033592							
HP:0033593	biolink:PhenotypicFeature	Anti-H2A-H2B antibody positivity	The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.		hp.json		http://purl.obolibrary.org/obo/HP_0033593							
HP:0033594	biolink:PhenotypicFeature	Elevated urinary 7-biopterin level	An abnormally increased amount of 7-biopterin in the urine.		hp.json	Primapterinuria	http://purl.obolibrary.org/obo/HP_0033594							
HP:0033595	biolink:PhenotypicFeature	Elevated circulating globotriaosylceramide concentration	Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.		hp.json	Elevated circulating ceramidetrihexoside concentration	http://purl.obolibrary.org/obo/HP_0033595							
HP:0033596	biolink:PhenotypicFeature	Elevated urinary 3-methylcrotonylglycine level	An abnormally increased amount of 3-methylcrotonylglycine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033596							
HP:0033597	biolink:PhenotypicFeature	Decreased mucosal sucrase-isomaltase activity	Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.		hp.json		http://purl.obolibrary.org/obo/HP_0033597							
HP:0033598	biolink:PhenotypicFeature	Fibrillar glomerular subepithelial deposits	Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).		hp.json		http://purl.obolibrary.org/obo/HP_0033598							
HP:0033599	biolink:PhenotypicFeature	Glomerular amyloid subepithelial deposits	A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).		hp.json		http://purl.obolibrary.org/obo/HP_0033599							
HP:0033600	biolink:PhenotypicFeature	Fibrillary glomerular subepithelial deposits	A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).		hp.json		http://purl.obolibrary.org/obo/HP_0033600							
HP:0033601	biolink:PhenotypicFeature	Glomerular subepithelial immune-complex deposits	A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).		hp.json		http://purl.obolibrary.org/obo/HP_0033601							
HP:0033602	biolink:PhenotypicFeature	Glomerular hyaline subepithelial deposits	A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).		hp.json		http://purl.obolibrary.org/obo/HP_0033602							
HP:0033603	biolink:PhenotypicFeature	Glomerular subepithelial deposits	Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).		hp.json		http://purl.obolibrary.org/obo/HP_0033603							
HP:0033604	biolink:PhenotypicFeature	Glomerular capillary wire loop deposits	Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.		hp.json		http://purl.obolibrary.org/obo/HP_0033604							
HP:0033605	biolink:PhenotypicFeature	Pustular rash	A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.		hp.json	Pustulosis	http://purl.obolibrary.org/obo/HP_0033605							
HP:0033606	biolink:PhenotypicFeature	Bone marrow maturation arrest	Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.		hp.json	Haematopoietic maturation arrest|Hematopoietic maturation arrest	http://purl.obolibrary.org/obo/HP_0033606							
HP:0033607	biolink:PhenotypicFeature	Bone marrow arrest at the promyelocytic stage	A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.		hp.json		http://purl.obolibrary.org/obo/HP_0033607							
HP:0033608	biolink:PhenotypicFeature	Pulmonary nodule	Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.		hp.json	Spot on the lung	http://purl.obolibrary.org/obo/HP_0033608							
HP:0033609	biolink:PhenotypicFeature	Solid pulmonary nodule	A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.		hp.json		http://purl.obolibrary.org/obo/HP_0033609							
HP:0033610	biolink:PhenotypicFeature	Subsolid pulmonary nodule	Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.		hp.json		http://purl.obolibrary.org/obo/HP_0033610							
HP:0033611	biolink:PhenotypicFeature	Part-solid pulmonary nodule	Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.		hp.json		http://purl.obolibrary.org/obo/HP_0033611							
HP:0033612	biolink:PhenotypicFeature	Pure ground-glass pulmonary nodule	Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.		hp.json		http://purl.obolibrary.org/obo/HP_0033612							
HP:0033613	biolink:PhenotypicFeature	Perifissural pulmonary nodule	Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.		hp.json		http://purl.obolibrary.org/obo/HP_0033613							
HP:0033614	biolink:PhenotypicFeature	Tracheal bronchus	Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.		hp.json		http://purl.obolibrary.org/obo/HP_0033614							
HP:0033615	biolink:PhenotypicFeature	Displaced tracheal bronchus	Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.		hp.json		http://purl.obolibrary.org/obo/HP_0033615							
HP:0033616	biolink:PhenotypicFeature	Accessory cardiac bronchus	Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.		hp.json		http://purl.obolibrary.org/obo/HP_0033616							
HP:0033617	biolink:PhenotypicFeature	Supernumerary tracheal bronchus	Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.		hp.json		http://purl.obolibrary.org/obo/HP_0033617							
HP:0033618	biolink:PhenotypicFeature	Displaced lobar tracheal bronchus	Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.		hp.json	Bronchus suis|Pig bronchus	http://purl.obolibrary.org/obo/HP_0033618							
HP:0033619	biolink:PhenotypicFeature	Typical perifissural nodule	A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).		hp.json		http://purl.obolibrary.org/obo/HP_0033619							
HP:0033620	biolink:PhenotypicFeature	Atypical perifissural nodule	A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).		hp.json		http://purl.obolibrary.org/obo/HP_0033620							
HP:0033621	biolink:PhenotypicFeature	Bronchial diverticula	Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.		hp.json		http://purl.obolibrary.org/obo/HP_0033621							
HP:0033622	biolink:PhenotypicFeature	Migratory erythematous plaque	A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.		hp.json		http://purl.obolibrary.org/obo/HP_0033622							
HP:0033623	biolink:PhenotypicFeature	Birth history	Information about the delivery and health status at birth typically elicited as a part of the past medical history.		hp.json		http://purl.obolibrary.org/obo/HP_0033623							
HP:0033624	biolink:PhenotypicFeature	History of congenital CMV infection	A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.		hp.json	History of congenital cytomegalovirus infection	http://purl.obolibrary.org/obo/HP_0033624							
HP:0033625	biolink:PhenotypicFeature	Emotional insecurity	A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening.		hp.json		http://purl.obolibrary.org/obo/HP_0033625							
HP:0033626	biolink:PhenotypicFeature	Increased non-HDL cholesterol concentration	Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).		hp.json	Elevated non-HDL cholesterol concentration	http://purl.obolibrary.org/obo/HP_0033626							
HP:0033627	biolink:PhenotypicFeature	Increased urine harderoporphyrin level	Increased amount of harderoporphyrin in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033627							
HP:0033628	biolink:PhenotypicFeature	Bowel irritability	Intermittent abdominal pain with diarrhea and/or constipation.		hp.json		http://purl.obolibrary.org/obo/HP_0033628							
HP:0033629	biolink:PhenotypicFeature	IgG4 autoimmune antibody positivity	The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.		hp.json		http://purl.obolibrary.org/obo/HP_0033629							
HP:0033630	biolink:PhenotypicFeature	Brain fog	Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.		hp.json	Mental clouding|Mental fatigue|Mental fog	http://purl.obolibrary.org/obo/HP_0033630							
HP:0033631	biolink:PhenotypicFeature	Spondylitis	Inflammation of the vertebrae (vertebral bodies) or spine.		hp.json		http://purl.obolibrary.org/obo/HP_0033631							
HP:0033632	biolink:PhenotypicFeature	Abnormal alveolar volume	Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.		hp.json		http://purl.obolibrary.org/obo/HP_0033632							
HP:0033633	biolink:PhenotypicFeature	Decreased alveolar volume	An abnormal reduction in alveolar volume.		hp.json		http://purl.obolibrary.org/obo/HP_0033633							
HP:0033634	biolink:PhenotypicFeature	Increased alveolar volume	An abnormal elevation in alveolar volume.		hp.json		http://purl.obolibrary.org/obo/HP_0033634							
HP:0033635	biolink:PhenotypicFeature	Post-capillary pulmonary hypertension	Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).		hp.json	Postcapillary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0033635							
HP:0033636	biolink:PhenotypicFeature	Combined pre- and post-capillary pulmonary hypertension	Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).		hp.json		http://purl.obolibrary.org/obo/HP_0033636							
HP:0033637	biolink:PhenotypicFeature	Anti-endomysial antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).		hp.json	Anti-transglutaminase 2 antibody positivity	http://purl.obolibrary.org/obo/HP_0033637							
HP:0033638	biolink:PhenotypicFeature	Intralobular septal thickening	Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.		hp.json	Intralobular lines	http://purl.obolibrary.org/obo/HP_0033638							
HP:0033639	biolink:PhenotypicFeature	Septic pulmonary embolism	Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.		hp.json	Septic pulmonary emboli	http://purl.obolibrary.org/obo/HP_0033639							
HP:0033640	biolink:PhenotypicFeature	Acetabular erosions	Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.		hp.json		http://purl.obolibrary.org/obo/HP_0033640							
HP:0033641	biolink:PhenotypicFeature	Aortic valve leaflet calcification	Deposition of calcium salts in the leaflets (cusps) of the aortic valve.		hp.json	Aortic cusp calcification|Aortic valve cusp calcification	http://purl.obolibrary.org/obo/HP_0033641							
HP:0033642	biolink:PhenotypicFeature	Mitral valve leaflet calcification	Deposition of calcium salts in the leaflets (cusps) of the mitral valve.		hp.json		http://purl.obolibrary.org/obo/HP_0033642							
HP:0033643	biolink:PhenotypicFeature	Increased circulating very long-chain fatty acid concentration	Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.		hp.json	Increased plasma levels of very long-chain fatty acid	http://purl.obolibrary.org/obo/HP_0033643							
HP:0033644	biolink:PhenotypicFeature	Elevated circulating erythropoietin concentration	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.json	Elevated circulating erythropoietin	http://purl.obolibrary.org/obo/HP_0033644							
HP:0033645	biolink:PhenotypicFeature	Midline brainstem cleft	A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons.		hp.json		http://purl.obolibrary.org/obo/HP_0033645							
HP:0033646	biolink:PhenotypicFeature	Absent hippocampal commissure	Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.		hp.json	Agenesis of the hippocampal commissure	http://purl.obolibrary.org/obo/HP_0033646							
HP:0033647	biolink:PhenotypicFeature	Silhouette sign	The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.		hp.json		http://purl.obolibrary.org/obo/HP_0033647							
HP:0033648	biolink:PhenotypicFeature	Pulmonary pseudocavity	A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.		hp.json		http://purl.obolibrary.org/obo/HP_0033648							
HP:0033649	biolink:PhenotypicFeature	Paraseptal emphysema	Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.		hp.json	Distal acinar emphysema	http://purl.obolibrary.org/obo/HP_0033649							
HP:0033650	biolink:PhenotypicFeature	Pulmonary parenchymal band	A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.		hp.json		http://purl.obolibrary.org/obo/HP_0033650							
HP:0033651	biolink:PhenotypicFeature	Pulmonary mycetoma	A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.		hp.json	Lung fungus ball	http://purl.obolibrary.org/obo/HP_0033651							
HP:0033652	biolink:PhenotypicFeature	Broncholith	A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis		hp.json		http://purl.obolibrary.org/obo/HP_0033652							
HP:0033653	biolink:PhenotypicFeature	Bronchocele	A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.		hp.json		http://purl.obolibrary.org/obo/HP_0033653							
HP:0033654	biolink:PhenotypicFeature	Beaded septum sign	Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.		hp.json		http://purl.obolibrary.org/obo/HP_0033654							
HP:0033655	biolink:PhenotypicFeature	Pulmonary cavity	A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.		hp.json	Pulmonary cavern	http://purl.obolibrary.org/obo/HP_0033655							
HP:0033656	biolink:PhenotypicFeature	Juxtaphrenic peak	A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.		hp.json		http://purl.obolibrary.org/obo/HP_0033656							
HP:0033657	biolink:PhenotypicFeature	Linear atelectasis	Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.		hp.json	Discoid atelectasis|Platelike atelectasis	http://purl.obolibrary.org/obo/HP_0033657							
HP:0033658	biolink:PhenotypicFeature	Rounded atelectasis	Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.		hp.json	Blesovsky syndrome|Comet tail sign|Folded lung syndrome|Helical atelectasis|Pleural pseudotumor|Pleuroma	http://purl.obolibrary.org/obo/HP_0033658							
HP:0033659	biolink:PhenotypicFeature	Crazy-paving pattern	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.json		http://purl.obolibrary.org/obo/HP_0033659							
HP:0033660	biolink:PhenotypicFeature	Hand paresthesia	Tingling (often refered to as a pins and needles feeling) and numbness in the hand.		hp.json	Hand tingling	http://purl.obolibrary.org/obo/HP_0033660							
HP:0033661	biolink:PhenotypicFeature	Air crescent	An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.		hp.json		http://purl.obolibrary.org/obo/HP_0033661							
HP:0033662	biolink:PhenotypicFeature	Air bronchogram	An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).		hp.json		http://purl.obolibrary.org/obo/HP_0033662							
HP:0033663	biolink:PhenotypicFeature	Air trapping	Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.		hp.json		http://purl.obolibrary.org/obo/HP_0033663							
HP:0033664	biolink:PhenotypicFeature	Ganglioglioma	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.	NCIT:C3788	hp.json		http://purl.obolibrary.org/obo/HP_0033664							
HP:0033665	biolink:PhenotypicFeature	Diminished health-related quality of life	A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.		hp.json		http://purl.obolibrary.org/obo/HP_0033665							
HP:0033666	biolink:PhenotypicFeature	Diminished physical functioning	A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.		hp.json	Decline in physical functional health|Diminished physical health	http://purl.obolibrary.org/obo/HP_0033666							
HP:0033667	biolink:PhenotypicFeature	Diminished mental health	A reduction in the subjective feeling of mental well being.		hp.json	Mental impairment|Reduced mental health	http://purl.obolibrary.org/obo/HP_0033667							
HP:0033668	biolink:PhenotypicFeature	Abnormal amygdala morphology	A structural anomaly of the amygdala.		hp.json	Abnormal morphology of the amygdala	http://purl.obolibrary.org/obo/HP_0033668							
HP:0033669	biolink:PhenotypicFeature	Enlarged amygdala	A increase in the volume (size) of the amygdyla.		hp.json	Amygdalar enlargement	http://purl.obolibrary.org/obo/HP_0033669							
HP:0033670	biolink:PhenotypicFeature	Organizing pneumonia	Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.		hp.json		http://purl.obolibrary.org/obo/HP_0033670							
HP:0033671	biolink:PhenotypicFeature	Pulmonary oligemia	Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.		hp.json		http://purl.obolibrary.org/obo/HP_0033671							
HP:0033672	biolink:PhenotypicFeature	Positive carpal Tinel sign	The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.		hp.json	Positive carpal Hoffmann Tinel sign	http://purl.obolibrary.org/obo/HP_0033672							
HP:0033673	biolink:PhenotypicFeature	Positive Phalen test	The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).		hp.json	Phalen manoeuvre|Phalen maneuver	http://purl.obolibrary.org/obo/HP_0033673							
HP:0033674	biolink:PhenotypicFeature	Pulmonary blood flow redistribution	Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.		hp.json		http://purl.obolibrary.org/obo/HP_0033674							
HP:0033675	biolink:PhenotypicFeature	Frailty	A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.		hp.json		http://purl.obolibrary.org/obo/HP_0033675							
HP:0033676	biolink:PhenotypicFeature	Posttraumatic stress symptom	A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating).		hp.json	PTSD	http://purl.obolibrary.org/obo/HP_0033676							
HP:0033677	biolink:PhenotypicFeature	Acute respiratory distress syndrome	Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.		hp.json	ARDS	http://purl.obolibrary.org/obo/HP_0033677							
HP:0033678	biolink:PhenotypicFeature	Acute coronary syndrome	The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).		hp.json		http://purl.obolibrary.org/obo/HP_0033678							
HP:0033679	biolink:PhenotypicFeature	Abnormal red nucleus morphology	Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.		hp.json		http://purl.obolibrary.org/obo/HP_0033679							
HP:0033680	biolink:PhenotypicFeature	Pilocytic astrocytoma	The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities.	NCIT:C4047	hp.json		http://purl.obolibrary.org/obo/HP_0033680							
HP:0033681	biolink:PhenotypicFeature	Oligodendroglioma	Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.	NCIT:C3288	hp.json		http://purl.obolibrary.org/obo/HP_0033681							
HP:0033682	biolink:PhenotypicFeature	Pleomorphic xanthoastrocytoma	Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.		hp.json		http://purl.obolibrary.org/obo/HP_0033682							
HP:0033683	biolink:PhenotypicFeature	Jaw hyperreflexia	Increased intensity of muscle tendon reflexes in jaw.		hp.json	Brisk jaw jerk	http://purl.obolibrary.org/obo/HP_0033683							
HP:0033684	biolink:PhenotypicFeature	Abnormal muscle fiber-type distribution	Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types		hp.json		http://purl.obolibrary.org/obo/HP_0033684							
HP:0033685	biolink:PhenotypicFeature	Fiber type grouping	An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.		hp.json	Fibre type grouping	http://purl.obolibrary.org/obo/HP_0033685							
HP:0033686	biolink:PhenotypicFeature	Mitochondrial hypertrophy	Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.		hp.json	Megamitochondria	http://purl.obolibrary.org/obo/HP_0033686							
HP:0033687	biolink:PhenotypicFeature	Short term memory impairment	A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).		hp.json	Short term memory loss	http://purl.obolibrary.org/obo/HP_0033687							
HP:0033688	biolink:PhenotypicFeature	Long term memory impairment	A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).		hp.json	Long term memory loss	http://purl.obolibrary.org/obo/HP_0033688							
HP:0033689	biolink:PhenotypicFeature	Anterograde memory impairment	The impaired ability to establish new long-term memories.		hp.json	Anterograde amnesia	http://purl.obolibrary.org/obo/HP_0033689							
HP:0033690	biolink:PhenotypicFeature	Retrograde memory impairment	Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.		hp.json	Retrograde amnesia	http://purl.obolibrary.org/obo/HP_0033690							
HP:0033691	biolink:PhenotypicFeature	Procedural memory loss	A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.		hp.json	Impaired procedural memory|Procedural memory deficit	http://purl.obolibrary.org/obo/HP_0033691							
HP:0033692	biolink:PhenotypicFeature	Declarative memory loss	Impaired ability to remember facts and events.		hp.json	Impaired declarative memory	http://purl.obolibrary.org/obo/HP_0033692							
HP:0033693	biolink:PhenotypicFeature	Phantosmia	Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.		hp.json	Phantom odour|Olfactory hallucination|Phantom odor|Phantom smell	http://purl.obolibrary.org/obo/HP_0033693							
HP:0033694	biolink:PhenotypicFeature	Tactile hallucination	The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.		hp.json	Tactile hallucinations	http://purl.obolibrary.org/obo/HP_0033694							
HP:0033695	biolink:PhenotypicFeature	Occupational disability	This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.		hp.json		http://purl.obolibrary.org/obo/HP_0033695							
HP:0033696	biolink:PhenotypicFeature	Pseudo-chilblain	Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.		hp.json	COVID toe|Chilblain-like lesion	http://purl.obolibrary.org/obo/HP_0033696							
HP:0033697	biolink:PhenotypicFeature	Vesicular eruption	A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.		hp.json		http://purl.obolibrary.org/obo/HP_0033697							
HP:0033698	biolink:PhenotypicFeature	Monomorphic vesicular eruption	A type of vesicular eruption in which the vesicles are at same stages.		hp.json		http://purl.obolibrary.org/obo/HP_0033698							
HP:0033699	biolink:PhenotypicFeature	Polymorphic vesicular eruption	A type of vesicular eruption in which the vesicles are at different stages.		hp.json		http://purl.obolibrary.org/obo/HP_0033699							
HP:0033700	biolink:PhenotypicFeature	Papulovesicular eruption	An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.		hp.json	Papulo-vesicular eruption	http://purl.obolibrary.org/obo/HP_0033700							
HP:0033701	biolink:PhenotypicFeature	Cortical sclerosis of the iliac wing	Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.		hp.json		http://purl.obolibrary.org/obo/HP_0033701							
HP:0033702	biolink:PhenotypicFeature	Subpleural curvilinear line	This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).		hp.json		http://purl.obolibrary.org/obo/HP_0033702							
HP:0033703	biolink:PhenotypicFeature	Dysembryoplastic neuroepithelial tumor	Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found		hp.json	DNET|DNT	http://purl.obolibrary.org/obo/HP_0033703							
HP:0033704	biolink:PhenotypicFeature	Elevated urinary homogentisic acid	An increased amount of homogentisic acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0033704							
HP:0033705	biolink:PhenotypicFeature	Tearfulness	A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control.		hp.json		http://purl.obolibrary.org/obo/HP_0033705							
HP:0033706	biolink:PhenotypicFeature	Progressive massive fibrosis	This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.		hp.json		http://purl.obolibrary.org/obo/HP_0033706							
HP:0033707	biolink:PhenotypicFeature	Perioral hyperkeratosis	Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.		hp.json		http://purl.obolibrary.org/obo/HP_0033707							
HP:0033708	biolink:PhenotypicFeature	Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity			hp.json	Anti-HMGCR autoantibodies|Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies	http://purl.obolibrary.org/obo/HP_0033708							
HP:0033709	biolink:PhenotypicFeature	Increased sputum production	An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).		hp.json	Increased phlegm	http://purl.obolibrary.org/obo/HP_0033709							
HP:0033710	biolink:PhenotypicFeature	Rest dyspnea	A perception of shortness of breath that occurs independently of exertion.		hp.json	Shortness of breath at rest|Dyspnoea at rest|Breathlessness at rest|Dyspnea at rest	http://purl.obolibrary.org/obo/HP_0033710							
HP:0033711	biolink:PhenotypicFeature	Pulmonary interstitial thickening	Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.		hp.json		http://purl.obolibrary.org/obo/HP_0033711							
HP:0033712	biolink:PhenotypicFeature	Repeated implantation failure	Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.		hp.json	Recurrent implantation failure	http://purl.obolibrary.org/obo/HP_0033712							
HP:0033713	biolink:PhenotypicFeature	Anti-signal recognition particle antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.		hp.json		http://purl.obolibrary.org/obo/HP_0033713							
HP:0033714	biolink:PhenotypicFeature	Multiple meningiomata	The occurrence of multiple distinct meningiomas in the same individual.		hp.json	Multifocal meningiomata|Multiple meningiomata	http://purl.obolibrary.org/obo/HP_0033714							
HP:0033715	biolink:PhenotypicFeature	Hippocampal sclerosis	Atrophy with gliosis of the hippocampus with loss of neurons and the normal cortical architecture.		hp.json	Mesial temporal sclerosis	http://purl.obolibrary.org/obo/HP_0033715							
HP:0033716	biolink:PhenotypicFeature	EEG with frontal epileptiform discharges	Focal epileptiform EEG discharges recorded in the frontal region.		hp.json		http://purl.obolibrary.org/obo/HP_0033716							
HP:0033717	biolink:PhenotypicFeature	EEG with temporal epileptiform discharges	Focal epileptiform EEG discharges recorded in the temporal region.		hp.json		http://purl.obolibrary.org/obo/HP_0033717							
HP:0033718	biolink:PhenotypicFeature	EEG with central epileptiform discharges	Focal epileptiform EEG discharges recorded in the central region.		hp.json		http://purl.obolibrary.org/obo/HP_0033718							
HP:0033719	biolink:PhenotypicFeature	EEG with parietal epileptiform discharges	Focal epileptiform EEG discharges recorded in the parietal region.		hp.json		http://purl.obolibrary.org/obo/HP_0033719							
HP:0033720	biolink:PhenotypicFeature	EEG with occipital epileptiform discharges	Focal epileptiform EEG discharges recorded in the occipital region.		hp.json		http://purl.obolibrary.org/obo/HP_0033720							
HP:0033721	biolink:PhenotypicFeature	EEG with centrotemporal epileptiform discharges	Focal epileptiform EEG discharges recorded in the centrotemporal region.		hp.json		http://purl.obolibrary.org/obo/HP_0033721							
HP:0033722	biolink:PhenotypicFeature	Autonomic epileptic aura	An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.		hp.json	Autonomic auras|Autonomic aura|Vegetative aura	http://purl.obolibrary.org/obo/HP_0033722							
HP:0033723	biolink:PhenotypicFeature	Abnormal cerebral venous sinus morphology	Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.		hp.json	Abnormal dural venous sinus morphology|Abnormality of the cerebral venous sinuses	http://purl.obolibrary.org/obo/HP_0033723							
HP:0033724	biolink:PhenotypicFeature	Central venous sinus thrombosis	An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.		hp.json		http://purl.obolibrary.org/obo/HP_0033724							
HP:0033725	biolink:PhenotypicFeature	Thin corpus callosum	An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).		hp.json	Small corpus callosum|Thinning of the corpus callosum	http://purl.obolibrary.org/obo/HP_0033725							
HP:0033726	biolink:PhenotypicFeature	Lupus nephritis	Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.		hp.json		http://purl.obolibrary.org/obo/HP_0033726							
HP:0033727	biolink:PhenotypicFeature	Diffuse lupus nephritis	A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.		hp.json	Class IV lupus nephritis	http://purl.obolibrary.org/obo/HP_0033727							
HP:0033728	biolink:PhenotypicFeature	Mesangial proliferative lupus nephritis	A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.		hp.json	Class II lupus nephritis	http://purl.obolibrary.org/obo/HP_0033728							
HP:0033729	biolink:PhenotypicFeature	Minimal mesangial lupus nephritis	A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.		hp.json	Class I lupus nephritis	http://purl.obolibrary.org/obo/HP_0033729							
HP:0033730	biolink:PhenotypicFeature	Membranous lupus nephritis	A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis		hp.json	Class V lupus nephritis	http://purl.obolibrary.org/obo/HP_0033730							
HP:0033731	biolink:PhenotypicFeature	Focal lupus nephritis	A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations		hp.json	Class III lupus nephritis	http://purl.obolibrary.org/obo/HP_0033731							
HP:0033732	biolink:PhenotypicFeature	Advanced sclerotic lupus nephritis	A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.		hp.json	Class VI lupus nephritis	http://purl.obolibrary.org/obo/HP_0033732							
HP:0033733	biolink:PhenotypicFeature	Low-grade vesicoureteral reflux	Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).		hp.json		http://purl.obolibrary.org/obo/HP_0033733							
HP:0033734	biolink:PhenotypicFeature	High-grade vesicoureteral reflux	Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).		hp.json		http://purl.obolibrary.org/obo/HP_0033734							
HP:0033735	biolink:PhenotypicFeature	Grade I vesicoureteral reflux	Vesicoureteral reflux into the ureter only.		hp.json	Grade I VUR|VUR I	http://purl.obolibrary.org/obo/HP_0033735							
HP:0033736	biolink:PhenotypicFeature	Grade II vesicoureteral reflux	Vesicoureteral reflux into a non-dilated pyelocalyceal system.		hp.json	Grade II VUR|VUR II	http://purl.obolibrary.org/obo/HP_0033736							
HP:0033737	biolink:PhenotypicFeature	Grade III vesicoureteral reflux	Vesicoureteral reflux with dilatation of the collecting system.		hp.json	Grade III VUR|VUR III	http://purl.obolibrary.org/obo/HP_0033737							
HP:0033738	biolink:PhenotypicFeature	Primary vesicoureteral reflux	Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.		hp.json		http://purl.obolibrary.org/obo/HP_0033738							
HP:0033739	biolink:PhenotypicFeature	Secondary vesicoureteral reflux	Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.		hp.json		http://purl.obolibrary.org/obo/HP_0033739							
HP:0033740	biolink:PhenotypicFeature	Grade V vesicoureteral reflux	Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.		hp.json	Grade V VUR|VUR V	http://purl.obolibrary.org/obo/HP_0033740							
HP:0033741	biolink:PhenotypicFeature	Grade IV vesicoureteral reflux	Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.		hp.json	Grade IV VUR|VUR IV	http://purl.obolibrary.org/obo/HP_0033741							
HP:0033742	biolink:PhenotypicFeature	Intrarenal reflux	Severe vesicoureteral reflux reaching the kidney parenchyma.		hp.json		http://purl.obolibrary.org/obo/HP_0033742							
HP:0033743	biolink:PhenotypicFeature	Macular agenesis	A congenital defect characterized by lack of development of the macula.		hp.json		http://purl.obolibrary.org/obo/HP_0033743							
HP:0033744	biolink:PhenotypicFeature	Global cerebellar dysplasia			hp.json		http://purl.obolibrary.org/obo/HP_0033744							
HP:0033745	biolink:PhenotypicFeature	Dysplasia of the superior cerebellar vermis			hp.json		http://purl.obolibrary.org/obo/HP_0033745							
HP:0033746	biolink:PhenotypicFeature	Intrascapular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.		hp.json	Pain between shoulder blades	http://purl.obolibrary.org/obo/HP_0033746							
HP:0033747	biolink:PhenotypicFeature	Abnormal exteroceptive sensation	A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.		hp.json		http://purl.obolibrary.org/obo/HP_0033747							
HP:0033748	biolink:PhenotypicFeature	Hypoesthesia	Decreased ability to perceive touch.		hp.json	Numbness|Hypoaesthesia	http://purl.obolibrary.org/obo/HP_0033748							
HP:0033749	biolink:PhenotypicFeature	Abnormal functional residual capacity	A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.		hp.json		http://purl.obolibrary.org/obo/HP_0033749							
HP:0033750	biolink:PhenotypicFeature	Reduced functional residual capacity	An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.		hp.json		http://purl.obolibrary.org/obo/HP_0033750							
HP:0033751	biolink:PhenotypicFeature	Elevated functional residual capacity	An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.		hp.json		http://purl.obolibrary.org/obo/HP_0033751							
HP:0033752	biolink:PhenotypicFeature	Abnormal residual volume	Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).		hp.json		http://purl.obolibrary.org/obo/HP_0033752							
HP:0033753	biolink:PhenotypicFeature	Reduced residual volume	Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.		hp.json		http://purl.obolibrary.org/obo/HP_0033753							
HP:0033754	biolink:PhenotypicFeature	Abnormal left ventricular end-diastolic volume	Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).		hp.json		http://purl.obolibrary.org/obo/HP_0033754							
HP:0033755	biolink:PhenotypicFeature	Increased left ventricular end-diastolic volume	Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).		hp.json		http://purl.obolibrary.org/obo/HP_0033755							
HP:0033756	biolink:PhenotypicFeature	Decreased left ventricular end-diastolic volume	Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).		hp.json		http://purl.obolibrary.org/obo/HP_0033756							
HP:0033757	biolink:PhenotypicFeature	Pancreatic steatosis	Fat infiltration in the pancreas.		hp.json	Fatty pancreas|Non-alcoholic fatty pancreatic disease|Pancreatic fatty infiltration|Pancreatic fatty replacement|Pancreatic lipomatosis|Pancreatic lipomatous pseudohypertrophy	http://purl.obolibrary.org/obo/HP_0033757							
HP:0033758	biolink:PhenotypicFeature	Labial abscess	A circumscribed area of pus or necrotic debris in the labia.		hp.json	Abscess of the labia	http://purl.obolibrary.org/obo/HP_0033758							
HP:0033759	biolink:PhenotypicFeature	Impaired renal tubular reabsorption of magnesium	Decreased renal tubular reabsorption of magnesium.		hp.json		http://purl.obolibrary.org/obo/HP_0033759							
HP:0033760	biolink:PhenotypicFeature	Decreased maximal oxygen uptake	Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.		hp.json		http://purl.obolibrary.org/obo/HP_0033760							
HP:0033761	biolink:PhenotypicFeature	Xanthogranulomatous pyelonephritis	Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033761							
HP:0033762	biolink:PhenotypicFeature	Middle cerebral artery stroke	Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain.		hp.json		http://purl.obolibrary.org/obo/HP_0033762							
HP:0033763	biolink:PhenotypicFeature	Death in adulthood	Cessation of life at the age of 16 years or later.		hp.json		http://purl.obolibrary.org/obo/HP_0033763							
HP:0033764	biolink:PhenotypicFeature	Death in middle age	Death between the age of 40 and 60 years.		hp.json		http://purl.obolibrary.org/obo/HP_0033764							
HP:0033765	biolink:PhenotypicFeature	Death in late adulthood	Death at an age of at least 60 years.		hp.json		http://purl.obolibrary.org/obo/HP_0033765							
HP:0033766	biolink:PhenotypicFeature	Polymelia	Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).		hp.json		http://purl.obolibrary.org/obo/HP_0033766							
HP:0033767	biolink:PhenotypicFeature	Abnormal single motor unit action potential	Abnormally high or low single motor unit action potential reading (-Pk Amps).		hp.json		http://purl.obolibrary.org/obo/HP_0033767							
HP:0033768	biolink:PhenotypicFeature	Penile thrush	Overgrowth of candida albicans in the penis.		hp.json	Penile candidiasis	http://purl.obolibrary.org/obo/HP_0033768							
HP:0033769	biolink:PhenotypicFeature	Fundic gland polyposis	Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.		hp.json	Fundic gland polyps|Gastric polyposis|Proximal polyposis of the stomach	http://purl.obolibrary.org/obo/HP_0033769							
HP:0033770	biolink:PhenotypicFeature	Gastric adenocarcinoma	An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.		hp.json		http://purl.obolibrary.org/obo/HP_0033770							
HP:0033771	biolink:PhenotypicFeature	Pleuritic chest pain	Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.		hp.json		http://purl.obolibrary.org/obo/HP_0033771							
HP:0033772	biolink:PhenotypicFeature	Abnormal RV/TLC ratio	Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.		hp.json		http://purl.obolibrary.org/obo/HP_0033772							
HP:0033773	biolink:PhenotypicFeature	Decreased RV/TLC ratio	An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.		hp.json		http://purl.obolibrary.org/obo/HP_0033773							
HP:0033774	biolink:PhenotypicFeature	Impaired renal tubular reabsorption of uric acid	Decreased renal tubular reabsorption of uric acid.		hp.json		http://purl.obolibrary.org/obo/HP_0033774							
HP:0033775	biolink:PhenotypicFeature	Pulmonary imaging sign	An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.		hp.json		http://purl.obolibrary.org/obo/HP_0033775							
HP:0033776	biolink:PhenotypicFeature	Enamel pearls	Small nodules of enamel on the root of a tooth.		hp.json		http://purl.obolibrary.org/obo/HP_0033776							
HP:0033777	biolink:PhenotypicFeature	Supernumerary cusp	Additional cusps of a dental crown.		hp.json	Additional cusp|Extra cusp	http://purl.obolibrary.org/obo/HP_0033777							
HP:0033778	biolink:PhenotypicFeature	Leung cusp	An additional cusp located in the middle of the occlusal surface.		hp.json		http://purl.obolibrary.org/obo/HP_0033778							
HP:0033779	biolink:PhenotypicFeature	Barrel-shaped tooth	A tooth crown with convex mesial and distal surfaces.		hp.json		http://purl.obolibrary.org/obo/HP_0033779							
HP:0033780	biolink:PhenotypicFeature	Bulbous tooth	A tooth crown with a marked cervical area constriction.		hp.json		http://purl.obolibrary.org/obo/HP_0033780							
HP:0033781	biolink:PhenotypicFeature	Tapered tooth	A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.		hp.json		http://purl.obolibrary.org/obo/HP_0033781							
HP:0033782	biolink:PhenotypicFeature	Semilunar tooth	An incisor with a half-moon shape incisal edge.		hp.json	Crescent-shape tooth|Hutchinson incisor|Semicircular tooth|Tooth, semilunar	http://purl.obolibrary.org/obo/HP_0033782							
HP:0033783	biolink:PhenotypicFeature	Molar incisor malformation	Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.		hp.json		http://purl.obolibrary.org/obo/HP_0033783							
HP:0033784	biolink:PhenotypicFeature	Dentin dysplasia	This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.		hp.json		http://purl.obolibrary.org/obo/HP_0033784							
HP:0033785	biolink:PhenotypicFeature	Enamel agenesis	Complete or almost complete absence of enamel.		hp.json		http://purl.obolibrary.org/obo/HP_0033785							
HP:0033786	biolink:PhenotypicFeature	Hypomature enamel	Enamel with a white or brown discoloration without hypoplasia.		hp.json	Enamel opacity	http://purl.obolibrary.org/obo/HP_0033786							
HP:0033787	biolink:PhenotypicFeature	Cementum hypoplasia	The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.		hp.json	Cementum aplasia	http://purl.obolibrary.org/obo/HP_0033787							
HP:0033788	biolink:PhenotypicFeature	Cementum overgrowth	Excess of cementum on the tooth root surface.		hp.json	Cementation hyperplasia|Cementum hypertrophy|Cementum overdeveloped|Drumstick-shaped root|Hypercementosis	http://purl.obolibrary.org/obo/HP_0033788							
HP:0033789	biolink:PhenotypicFeature	Triggered by cheese ingestion	Applies to a sign or symptom that is provoked or brought about by eating cheese.		hp.json		http://purl.obolibrary.org/obo/HP_0033789							
HP:0033790	biolink:PhenotypicFeature	Thistle tube shaped pulp	A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.		hp.json	Flame-shaped pulp	http://purl.obolibrary.org/obo/HP_0033790							
HP:0033791	biolink:PhenotypicFeature	Tooth ankylosis	Fusion of a tooth with alveolar bone.		hp.json		http://purl.obolibrary.org/obo/HP_0033791							
HP:0033792	biolink:PhenotypicFeature	Cross bite	Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.		hp.json		http://purl.obolibrary.org/obo/HP_0033792							
HP:0033793	biolink:PhenotypicFeature	Triggered by food ingestion	Applies to a sign or symptom that is provoked or brought about by eating a certain food.		hp.json		http://purl.obolibrary.org/obo/HP_0033793							
HP:0033794	biolink:PhenotypicFeature	Acral overgrowth	Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.		hp.json	Acral enlargement|Acral hypertrophy|Acromegalic growth|Acromegaly	http://purl.obolibrary.org/obo/HP_0033794							
HP:0033795	biolink:PhenotypicFeature	Growth without growth hormone			hp.json		http://purl.obolibrary.org/obo/HP_0033795							
HP:0033796	biolink:PhenotypicFeature	Abnormal leukocyte physiology	A functional abnormality of a white blood cell.		hp.json		http://purl.obolibrary.org/obo/HP_0033796							
HP:0033797	biolink:PhenotypicFeature	Leukocyte migration defect	Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.		hp.json	Abnormal leukocyte migration|Defects of leukocyte migration	http://purl.obolibrary.org/obo/HP_0033797							
HP:0033798	biolink:PhenotypicFeature	Impaired leukocyte adhesion	During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.		hp.json		http://purl.obolibrary.org/obo/HP_0033798							
HP:0033799	biolink:PhenotypicFeature	Abnormal circulating sex hormone concentration	Any deviation from the normal concentration of a sex hormone in the blood circulation		hp.json	Abnormal circulating gonadal steroid concentration|Abnormal circulating gonadocorticoid concentration|Abnormal circulating sex steroid concentration	http://purl.obolibrary.org/obo/HP_0033799							
HP:0033800	biolink:PhenotypicFeature	Blistering by anatomical location	Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.		hp.json		http://purl.obolibrary.org/obo/HP_0033800							
HP:0033801	biolink:PhenotypicFeature	Blistering by histological location	Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates.		hp.json		http://purl.obolibrary.org/obo/HP_0033801							
HP:0033802	biolink:PhenotypicFeature	Intra-epidermal blistering	A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes.		hp.json		http://purl.obolibrary.org/obo/HP_0033802							
HP:0033803	biolink:PhenotypicFeature	Blistering with sub-lamina densa plane of cleavage	A type of blistering in which the cleavage plane of blisters is located below the lamina densa.		hp.json		http://purl.obolibrary.org/obo/HP_0033803							
HP:0033804	biolink:PhenotypicFeature	Subepidermal blistering	A type of blistering in which the lesions are located beneath the epidermis.		hp.json		http://purl.obolibrary.org/obo/HP_0033804							
HP:0033805	biolink:PhenotypicFeature	Non-necrotizing granuloma	A granuloma which is not associated with necrotic changes.		hp.json		http://purl.obolibrary.org/obo/HP_0033805							
HP:0033806	biolink:PhenotypicFeature	Abnormal epidermis stratum granulosum morphology	An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.		hp.json		http://purl.obolibrary.org/obo/HP_0033806							
HP:0033807	biolink:PhenotypicFeature	Absent keratohyalin granules	Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.		hp.json		http://purl.obolibrary.org/obo/HP_0033807							
HP:0033808	biolink:PhenotypicFeature	Spermatocele	A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.		hp.json		http://purl.obolibrary.org/obo/HP_0033808							
HP:0033809	biolink:PhenotypicFeature	Increased circulating 17 hydroxypregnenolone concentration	Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.		hp.json		http://purl.obolibrary.org/obo/HP_0033809							
HP:0033810	biolink:PhenotypicFeature	Decreased circulating dihydrotestosterone concentration	A reduced concentration of dihydrotestosterone in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033810							
HP:0033811	biolink:PhenotypicFeature	Abnormal circulating androstenedione concentration	Any deviation from the normal concentration of androstenedione in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033811							
HP:0033812	biolink:PhenotypicFeature	Decreased circulating androstenedione concentration	Reduced concentration of androstenedione in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033812							
HP:0033813	biolink:PhenotypicFeature	Perilobular	Situated or occurring around a lobe of an organ.		hp.json		http://purl.obolibrary.org/obo/HP_0033813							
HP:0033814	biolink:PhenotypicFeature	Paraseptal	Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa.		hp.json		http://purl.obolibrary.org/obo/HP_0033814							
HP:0033815	biolink:PhenotypicFeature	Bronchocentric	Centered in bronchi or bronchioles.		hp.json		http://purl.obolibrary.org/obo/HP_0033815							
HP:0033816	biolink:PhenotypicFeature	Centrilobular	Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs.		hp.json		http://purl.obolibrary.org/obo/HP_0033816							
HP:0033817	biolink:PhenotypicFeature	Miliary	Characterized by numerous small lesions said to resemble millet seed.		hp.json		http://purl.obolibrary.org/obo/HP_0033817							
HP:0033818	biolink:PhenotypicFeature	Reticular	Applies to an abnormality whose distribution and appearance resembles a net or network-like structure.		hp.json		http://purl.obolibrary.org/obo/HP_0033818							
HP:0033819	biolink:PhenotypicFeature	Perilymphatic	Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel).		hp.json		http://purl.obolibrary.org/obo/HP_0033819							
HP:0033820	biolink:PhenotypicFeature	Apical	Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung.		hp.json		http://purl.obolibrary.org/obo/HP_0033820							
HP:0033821	biolink:PhenotypicFeature	Pulmonary mass	A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).		hp.json		http://purl.obolibrary.org/obo/HP_0033821							
HP:0033822	biolink:PhenotypicFeature	Mass on thoracic imaging	A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.		hp.json		http://purl.obolibrary.org/obo/HP_0033822							
HP:0033823	biolink:PhenotypicFeature	Mediastinal mass	A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).		hp.json		http://purl.obolibrary.org/obo/HP_0033823							
HP:0033824	biolink:PhenotypicFeature	Pleural mass	A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).		hp.json		http://purl.obolibrary.org/obo/HP_0033824							
HP:0033825	biolink:PhenotypicFeature	Superior mediastinal mass	A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).		hp.json		http://purl.obolibrary.org/obo/HP_0033825							
HP:0033826	biolink:PhenotypicFeature	Inferior mediastinal mass	A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).		hp.json		http://purl.obolibrary.org/obo/HP_0033826							
HP:0033827	biolink:PhenotypicFeature	Anterior mediastinal mass	A type of inferior mediastinal mass that is located in front of the pericardium.		hp.json		http://purl.obolibrary.org/obo/HP_0033827							
HP:0033828	biolink:PhenotypicFeature	Middle mediastinal mass	A type of inferior mediastinal mass that is located withinthe pericardium.		hp.json		http://purl.obolibrary.org/obo/HP_0033828							
HP:0033829	biolink:PhenotypicFeature	Posterior mediastinal mass	A type of inferior mediastinal mass that is located behind the pericardium.		hp.json		http://purl.obolibrary.org/obo/HP_0033829							
HP:0033830	biolink:PhenotypicFeature	Hyperdense pulmonary mass	A type of pulmonary mass with high attenuation.		hp.json		http://purl.obolibrary.org/obo/HP_0033830							
HP:0033831	biolink:PhenotypicFeature	Cavitating pulmonary mass	A type of pulmonary mass that forms one or more cavities.		hp.json		http://purl.obolibrary.org/obo/HP_0033831							
HP:0033832	biolink:PhenotypicFeature	Livedo	A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.		hp.json	Livedoid dermatitis	http://purl.obolibrary.org/obo/HP_0033832							
HP:0033833	biolink:PhenotypicFeature	Elevated circulating soluble CD25 concentration	Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.		hp.json	Elevated circulating interleukin-2 receptor alpha-chain	http://purl.obolibrary.org/obo/HP_0033833							
HP:0033834	biolink:PhenotypicFeature	Malaise	A feeling of general discomfort, weakness, or lack of health.		hp.json		http://purl.obolibrary.org/obo/HP_0033834							
HP:0033835	biolink:PhenotypicFeature	Abnormal renal vascular morphology	Anomalous structure of a blood vessel in the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033835							
HP:0033836	biolink:PhenotypicFeature	Abnormal intrarenal artery morphology	An anomalous structure of an artery located in the kidney.		hp.json	Abnormal kidney arterial blood vessel morphology	http://purl.obolibrary.org/obo/HP_0033836							
HP:0033837	biolink:PhenotypicFeature	Abnormal arcuate artery morphology	Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.		hp.json	Abnormalities of arcuate arteries	http://purl.obolibrary.org/obo/HP_0033837							
HP:0033838	biolink:PhenotypicFeature	Dysphoria	A state of feeling very unhappy, uneasy, or dissatisfied.		hp.json		http://purl.obolibrary.org/obo/HP_0033838							
HP:0033839	biolink:PhenotypicFeature	Testicular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.		hp.json	Pain in testicles	http://purl.obolibrary.org/obo/HP_0033839							
HP:0033840	biolink:PhenotypicFeature	Postmenopausal bleeding	Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.		hp.json		http://purl.obolibrary.org/obo/HP_0033840							
HP:0033841	biolink:PhenotypicFeature	Ocular pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.		hp.json	Itchy eyes|Ocular itch	http://purl.obolibrary.org/obo/HP_0033841							
HP:0033842	biolink:PhenotypicFeature	Early satiety	The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.		hp.json	Feeling full quickly when eating|Not able to finish a normal-sized meal	http://purl.obolibrary.org/obo/HP_0033842							
HP:0033843	biolink:PhenotypicFeature	Postprandial fullness	Feeling excessively full after meals.		hp.json		http://purl.obolibrary.org/obo/HP_0033843							
HP:0033844	biolink:PhenotypicFeature	Tachyphrenia	The sensation that thoughts are moving too quickly.		hp.json	Racing thoughts	http://purl.obolibrary.org/obo/HP_0033844							
HP:0033845	biolink:PhenotypicFeature	Sense of impending doom	A feeling that something life-threatening or tragic is about to occur.		hp.json	Sense of doom	http://purl.obolibrary.org/obo/HP_0033845							
HP:0033846	biolink:PhenotypicFeature	Spinal hypomyelination	Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.		hp.json		http://purl.obolibrary.org/obo/HP_0033846							
HP:0033847	biolink:PhenotypicFeature	Phantageusia	A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.		hp.json	Phantom taste	http://purl.obolibrary.org/obo/HP_0033847							
HP:0033848	biolink:PhenotypicFeature	Receptive aphasia	A type of aphasia that is characterized by impaired language comprehension.		hp.json	Fluent aphasia|Wernicke aphasia	http://purl.obolibrary.org/obo/HP_0033848							
HP:0033849	biolink:PhenotypicFeature	Bilingual aphasia	The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.		hp.json		http://purl.obolibrary.org/obo/HP_0033849							
HP:0033850	biolink:PhenotypicFeature	Coldness	Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.		hp.json	Cold skin temperature|Cool skin|Cool skin temperature|Coolness to palpation	http://purl.obolibrary.org/obo/HP_0033850							
HP:0033851	biolink:PhenotypicFeature	Oculomotor synkinesis	Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.		hp.json		http://purl.obolibrary.org/obo/HP_0033851							
HP:0033852	biolink:PhenotypicFeature	Abnormal intrarenal vein morphology	Abnormal structure of a vein located inside the kidney parenchyma.		hp.json		http://purl.obolibrary.org/obo/HP_0033852							
HP:0033853	biolink:PhenotypicFeature	Abnormal arcuate vein morphology	Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).		hp.json		http://purl.obolibrary.org/obo/HP_0033853							
HP:0033854	biolink:PhenotypicFeature	Abnormal interlobular vein morphology	Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).		hp.json		http://purl.obolibrary.org/obo/HP_0033854							
HP:0033855	biolink:PhenotypicFeature	Abnormal interlobular vein lumen morphology	Any structural anomaly located in the the inside space of the interlobular veins of the kidney.		hp.json	Abnormal morphology of the interlobular vein lumen	http://purl.obolibrary.org/obo/HP_0033855							
HP:0033856	biolink:PhenotypicFeature	Cholesterol emboli within interlobular vein lumen	Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json		http://purl.obolibrary.org/obo/HP_0033856							
HP:0033857	biolink:PhenotypicFeature	Intraluminal thrombi within interlobular veins	Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033857							
HP:0033858	biolink:PhenotypicFeature	Organized thrombi within interlobular vein lumen	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033858							
HP:0033859	biolink:PhenotypicFeature	Abnormal peritubular capillary morphology	Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,		hp.json		http://purl.obolibrary.org/obo/HP_0033859							
HP:0033860	biolink:PhenotypicFeature	Abnormal cortical peritubular capillary morphology	Anomalous structure of the peritubular capillaries located in the cortex of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033860							
HP:0033861	biolink:PhenotypicFeature	Multilamellation of cortical peritubular capillary basement membranes	Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.		hp.json	Multilamellation of basement membranes within cortical peritubular capillaries	http://purl.obolibrary.org/obo/HP_0033861							
HP:0033862	biolink:PhenotypicFeature	Cortical peritubular capillaritis	Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033862							
HP:0033863	biolink:PhenotypicFeature	Abnormal cortical peritubular capillary lumen morphology	Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033863							
HP:0033864	biolink:PhenotypicFeature	Abnormal medullary peritubular capillary morphology	Anomalous structure of the peritubular capillaries located in the medulla of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033864							
HP:0033865	biolink:PhenotypicFeature	Medullary peritubular capillaritis	Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.		hp.json		http://purl.obolibrary.org/obo/HP_0033865							
HP:0033866	biolink:PhenotypicFeature	Medullary peritubular capillary erythrocyte congestion	Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).		hp.json		http://purl.obolibrary.org/obo/HP_0033866							
HP:0033867	biolink:PhenotypicFeature	Multilamellation of medullary peritubular capillary basement membranes	Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.		hp.json	Multilamellation of basement membranes within medullary peritubular capillaries	http://purl.obolibrary.org/obo/HP_0033867							
HP:0033868	biolink:PhenotypicFeature	Abnormal medullary peritubular capillary lumen morphology	Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033868							
HP:0033869	biolink:PhenotypicFeature	Medullary peritubular capillary lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json	Cholesterol emboli within the medullary peritubular capillary lumen	http://purl.obolibrary.org/obo/HP_0033869							
HP:0033870	biolink:PhenotypicFeature	Medullary peritubular capillary intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.		hp.json	Intraluminal thrombi within medullary peritubular capillaries	http://purl.obolibrary.org/obo/HP_0033870							
HP:0033871	biolink:PhenotypicFeature	Medullary peritubular capillary lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.		hp.json	Organized thrombi within the medullary peritubular capillary lumen	http://purl.obolibrary.org/obo/HP_0033871							
HP:0033872	biolink:PhenotypicFeature	Cortical peritubular capillary lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json		http://purl.obolibrary.org/obo/HP_0033872							
HP:0033873	biolink:PhenotypicFeature	Cortical peritubular capillary intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.		hp.json	Intraluminal thrombi within cortical peritubular capillaries	http://purl.obolibrary.org/obo/HP_0033873							
HP:0033874	biolink:PhenotypicFeature	Cortical peritubular capillary lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033874							
HP:0033875	biolink:PhenotypicFeature	Abnormal arcuate vein lumen morphology	Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033875							
HP:0033876	biolink:PhenotypicFeature	Arcuate vein lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json	Cholesterol emboli within arcuate vein lumen	http://purl.obolibrary.org/obo/HP_0033876							
HP:0033877	biolink:PhenotypicFeature	Arcuate vein intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.		hp.json	Intraluminal thrombi within arcuate veins	http://purl.obolibrary.org/obo/HP_0033877							
HP:0033878	biolink:PhenotypicFeature	Arcuate vein lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.		hp.json	Organized thrombi within arcuate vein lumen	http://purl.obolibrary.org/obo/HP_0033878							
HP:0033879	biolink:PhenotypicFeature	Abnormal arcuate vein intima/media morphology	Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033879							
HP:0033880	biolink:PhenotypicFeature	Arcuate vein intimal mucoid edema	Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.		hp.json	Intimal mucoid edema within arcuate veins	http://purl.obolibrary.org/obo/HP_0033880							
HP:0033881	biolink:PhenotypicFeature	Arcuate vein intimal/medial myxomatous degeneration	Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.		hp.json	Myxomatous change within arcuate vein intima/media	http://purl.obolibrary.org/obo/HP_0033881							
HP:0033882	biolink:PhenotypicFeature	Arcuate vein intima/medial amyloidosis	Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.		hp.json	Amyloidosis within arcuate vein intima/media	http://purl.obolibrary.org/obo/HP_0033882							
HP:0033883	biolink:PhenotypicFeature	Abnormal cortical radial artery morphology	Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.		hp.json	Abnormal interlobular artery morphology	http://purl.obolibrary.org/obo/HP_0033883							
HP:0033884	biolink:PhenotypicFeature	Abnormal cortical radial artery lumen morphology	Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.		hp.json	Abnormal interlobular arterial lumen morphology	http://purl.obolibrary.org/obo/HP_0033884							
HP:0033885	biolink:PhenotypicFeature	Cortical radial artery lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json		http://purl.obolibrary.org/obo/HP_0033885							
HP:0033886	biolink:PhenotypicFeature	Abnormal arcuate artery intima/media morphology	Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.		hp.json	Abnormalities of the arcuate arterial intima/media	http://purl.obolibrary.org/obo/HP_0033886							
HP:0033887	biolink:PhenotypicFeature	Cortical radial artery intimal/medial amyloidosis	Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy		hp.json	Amyloidosis within interlobular arterial intima/media|Interlobular arterial intima/media amyloidosis	http://purl.obolibrary.org/obo/HP_0033887							
HP:0033888	biolink:PhenotypicFeature	Abnormal cortical radial artery intima/media morphology	Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.		hp.json	Abnormalities of the interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033888							
HP:0033889	biolink:PhenotypicFeature	Abnormal renal arteriole morphology	Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.		hp.json		http://purl.obolibrary.org/obo/HP_0033889							
HP:0033890	biolink:PhenotypicFeature	Abnormal renal arteriole lumen morphology	Abnormal structural characteristics of the interior space (lumen) of renal arterioles.		hp.json		http://purl.obolibrary.org/obo/HP_0033890							
HP:0033891	biolink:PhenotypicFeature	Renal arteriolar lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json	Cholesterol emboli within the arteriolar lumen	http://purl.obolibrary.org/obo/HP_0033891							
HP:0033892	biolink:PhenotypicFeature	Abnormal renal arteriole intima/media morphology	Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033892							
HP:0033893	biolink:PhenotypicFeature	Renal arteriolar lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033893							
HP:0033894	biolink:PhenotypicFeature	Renal arteriolar intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033894							
HP:0033895	biolink:PhenotypicFeature	Abnormal renal arteriole endothelium morphology	Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033895							
HP:0033896	biolink:PhenotypicFeature	Abnormal arcuate artery lumen morphology	Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.		hp.json	Abnormalities of the arcuate arterial lumen	http://purl.obolibrary.org/obo/HP_0033896							
HP:0033897	biolink:PhenotypicFeature	Arcuate artery lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.		hp.json	Cholesterol emboli within arcuate arterial lumen	http://purl.obolibrary.org/obo/HP_0033897							
HP:0033898	biolink:PhenotypicFeature	Arcuate artery intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.		hp.json	Intraluminal thrombi within arcuate arterial lumen	http://purl.obolibrary.org/obo/HP_0033898							
HP:0033899	biolink:PhenotypicFeature	Arcuate artery lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.		hp.json	Organized thrombi within arcuate arterial lumen	http://purl.obolibrary.org/obo/HP_0033899							
HP:0033900	biolink:PhenotypicFeature	Renal arteriole intima/media amyloidosis	Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.		hp.json	Amyloidosis within renal arteriolar intima/media	http://purl.obolibrary.org/obo/HP_0033900							
HP:0033901	biolink:PhenotypicFeature	Abnormal arcuate artery endothelium morphology	Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033901							
HP:0033902	biolink:PhenotypicFeature	Arcuate artery endotheliosis	Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.		hp.json	Endotheliosis within arcuate arteries	http://purl.obolibrary.org/obo/HP_0033902							
HP:0033903	biolink:PhenotypicFeature	Arcuate artery endoarterial hypercellularity	Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.		hp.json	Endoarterial hypercellularity within arcuate artery	http://purl.obolibrary.org/obo/HP_0033903							
HP:0033904	biolink:PhenotypicFeature	Renal arteriole intima/media hyalinosis	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.		hp.json		http://purl.obolibrary.org/obo/HP_0033904							
HP:0033905	biolink:PhenotypicFeature	Arcuate artery intima/media arteriosclerosis	Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.		hp.json	Arteriosclerosis within arcuate arterial intima/media	http://purl.obolibrary.org/obo/HP_0033905							
HP:0033906	biolink:PhenotypicFeature	Renal intimal/medial arteriolitis	Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.		hp.json		http://purl.obolibrary.org/obo/HP_0033906							
HP:0033907	biolink:PhenotypicFeature	Renal arteriole intima/media arteriolosclerosis	Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.		hp.json		http://purl.obolibrary.org/obo/HP_0033907							
HP:0033908	biolink:PhenotypicFeature	Renal arteriole medial atrophy	Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033908							
HP:0033909	biolink:PhenotypicFeature	Arcuate vein medial hypertrophy	Increased thickness of middle layer of the arcuate veins of the kidney.		hp.json	Medial hypertrophy within arcuate veins	http://purl.obolibrary.org/obo/HP_0033909							
HP:0033910	biolink:PhenotypicFeature	Arcuate vein medial atrophy	Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.		hp.json	Medial atrophy within arcuate veins	http://purl.obolibrary.org/obo/HP_0033910							
HP:0033911	biolink:PhenotypicFeature	Cortical radial artery medial hypertrophy	Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.		hp.json	Interlobular artery medial hypertrophy|Medial hypertrophy within interlobular arteries	http://purl.obolibrary.org/obo/HP_0033911							
HP:0033912	biolink:PhenotypicFeature	Cortical radial artery medial atrophy	Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.		hp.json	Interlobular artery medial atrophy|Medial atrophy within interlobular arteries	http://purl.obolibrary.org/obo/HP_0033912							
HP:0033913	biolink:PhenotypicFeature	Cortical radial artery medial/intimal arteriitis	Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.		hp.json	Arteritis within interlobular arterial intima/media|Interlobular artery medial/intimal arteriitis	http://purl.obolibrary.org/obo/HP_0033913							
HP:0033914	biolink:PhenotypicFeature	Arcuate artery intima/media amyloidosis	Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.		hp.json	Amyloidosis within arcuate arterial intima/media	http://purl.obolibrary.org/obo/HP_0033914							
HP:0033915	biolink:PhenotypicFeature	Arcuate artery intimal mucoid edema	Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.		hp.json		http://purl.obolibrary.org/obo/HP_0033915							
HP:0033916	biolink:PhenotypicFeature	Medial/intimal arcuate venosclerosis	Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.		hp.json		http://purl.obolibrary.org/obo/HP_0033916							
HP:0033917	biolink:PhenotypicFeature	Arcuate intimal/medial venulitis	Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural.		hp.json	Venulitis within arcuate vein intima/media	http://purl.obolibrary.org/obo/HP_0033917							
HP:0033918	biolink:PhenotypicFeature	Renal arteriole medial hypertrophy	Increased thickness of middle layer of the arterioles of the kidney.		hp.json	Medial hypertrophy within arterioles	http://purl.obolibrary.org/obo/HP_0033918							
HP:0033919	biolink:PhenotypicFeature	Medial/intimal arcuate venulitis	Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.		hp.json		http://purl.obolibrary.org/obo/HP_0033919							
HP:0033920	biolink:PhenotypicFeature	Renal arteriole intima/media storage material accumulation	Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.		hp.json	Accumulated storage material within arteriolar intima/media	http://purl.obolibrary.org/obo/HP_0033920							
HP:0033921	biolink:PhenotypicFeature	Renal arteriole endoarterial hypercellularity	Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.		hp.json	Endoarterial hypercellularity within arterioles	http://purl.obolibrary.org/obo/HP_0033921							
HP:0033922	biolink:PhenotypicFeature	Renal arteriole leukocytic endoarterial hypercellularity	A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).		hp.json		http://purl.obolibrary.org/obo/HP_0033922							
HP:0033923	biolink:PhenotypicFeature	Renal arteriole foam cell endoarterial hypercellularity	A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.		hp.json	Endoarterial hypercellularity within arterioles consisting of foam cells	http://purl.obolibrary.org/obo/HP_0033923							
HP:0033924	biolink:PhenotypicFeature	Renal arteriole neutrophil endoarterial hypercellularity	A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.		hp.json	Endoarterial hypercellularity within arterioles consisting of neutrophils	http://purl.obolibrary.org/obo/HP_0033924							
HP:0033925	biolink:PhenotypicFeature	Renal arteriole lymphocyte endoarterial hypercellularity	A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.		hp.json	Endoarterial hypercellularity within arterioles consisting of lymphocytes	http://purl.obolibrary.org/obo/HP_0033925							
HP:0033926	biolink:PhenotypicFeature	Renal arteriole intimal/medial multilamellation	Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.		hp.json	Multilamellation (onion skinning) within renal arteriole intima/media|Renal arteriole intima/media multilamellation|Renal arteriole intimal/medial onion skinning	http://purl.obolibrary.org/obo/HP_0033926							
HP:0033927	biolink:PhenotypicFeature	Arcuate artery endoarterial leukocyte hypercellularity	Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).		hp.json	Endoarterial hypercellularity within arcuate artery consisting of leukocytes	http://purl.obolibrary.org/obo/HP_0033927							
HP:0033928	biolink:PhenotypicFeature	Arcuate artery endoarterial foam cell hypercellularity	A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.		hp.json	Endoarterial hypercellularity within arcuate artery consisting of foam cells	http://purl.obolibrary.org/obo/HP_0033928							
HP:0033929	biolink:PhenotypicFeature	Arcuate artery endoarterial neutrophil hypercellularity	A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.		hp.json	Endoarterial hypercellularity within arcuate artery consisting of neutrophils	http://purl.obolibrary.org/obo/HP_0033929							
HP:0033930	biolink:PhenotypicFeature	Arcuate artery endoarterial lymphocyte hypercellularity	A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.		hp.json	Endoarterial hypercellularity within arcuate artery consisting of lymphocytes	http://purl.obolibrary.org/obo/HP_0033930							
HP:0033931	biolink:PhenotypicFeature	Arcuate artery intima/media necrosis	Death of tissue in the inner or middle layer of the arcuate artery of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033931							
HP:0033932	biolink:PhenotypicFeature	Arcuate artery intima/media coagulative necrosis	A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.		hp.json	Coagulative necrosis within interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033932							
HP:0033933	biolink:PhenotypicFeature	Arcuate artery intima/media liquefactive necrosis	A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.		hp.json	Liquefactive necrosis of the arcuate artery intima/media	http://purl.obolibrary.org/obo/HP_0033933							
HP:0033934	biolink:PhenotypicFeature	Arcuate vein intimal/medial storage material accumulation	Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.		hp.json	Multilamellation (onion skinning) within arteriolar intima/media|Renal arteriole intima/media onion skinning	http://purl.obolibrary.org/obo/HP_0033934							
HP:0033935	biolink:PhenotypicFeature	Cortical radial artery intima/media necrosis	Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.		hp.json	Necrosis within interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033935							
HP:0033936	biolink:PhenotypicFeature	Cortical radial artery intima/media liquefactive necrosis	A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.		hp.json	Liquefactive necrosis within interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033936							
HP:0033937	biolink:PhenotypicFeature	Cortical radial artery intima/media coagulative necrosis	A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.		hp.json		http://purl.obolibrary.org/obo/HP_0033937							
HP:0033938	biolink:PhenotypicFeature	Renal arteriole intima/media necrosis	Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033938							
HP:0033939	biolink:PhenotypicFeature	Renal arteriole intima/media liquefactive necrosis	A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.		hp.json	Liquefactive necrosis of the renal arteriolar intima/media	http://purl.obolibrary.org/obo/HP_0033939							
HP:0033940	biolink:PhenotypicFeature	Renal arteriole intima/media coagulative necrosis	A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.		hp.json		http://purl.obolibrary.org/obo/HP_0033940							
HP:0033941	biolink:PhenotypicFeature	Granulomatous arteriolitis of the arteriolar intima/media	A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.		hp.json	Granulomatous arteriolitis within arteriolar intima/media	http://purl.obolibrary.org/obo/HP_0033941							
HP:0033942	biolink:PhenotypicFeature	Arcuate vein medial/intimal necrosis	Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.		hp.json	Necrosis within arcuate vein intima/media	http://purl.obolibrary.org/obo/HP_0033942							
HP:0033943	biolink:PhenotypicFeature	Arcuate vein medial/intimal coagulative necrosis	A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.		hp.json	Coagulative necrosis within arcuate vein intima/media	http://purl.obolibrary.org/obo/HP_0033943							
HP:0033944	biolink:PhenotypicFeature	Arcuate vein medial/intimal liquefactive necrosis	A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.		hp.json	Liquefactive necrosis within arcuate vein intima/media	http://purl.obolibrary.org/obo/HP_0033944							
HP:0033945	biolink:PhenotypicFeature	Arcuate intimal/medial granulomatous venulitis	A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.		hp.json		http://purl.obolibrary.org/obo/HP_0033945							
HP:0033946	biolink:PhenotypicFeature	Arcuate vein intima/media crystal accumulation	Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033946							
HP:0033947	biolink:PhenotypicFeature	Renal arteriole intima/media crystal accumulation	Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.		hp.json	Accumulated crystals within renal arteriolar intima/media	http://purl.obolibrary.org/obo/HP_0033947							
HP:0033948	biolink:PhenotypicFeature	Arcuate artery intima/media arteriitis	Inflammation of the inner or middle layer of the arcuate arteries of the kidney.		hp.json	Arteritis within arcuate arterial intima/media	http://purl.obolibrary.org/obo/HP_0033948							
HP:0033949	biolink:PhenotypicFeature	Arcuate artery intima/media granulomatous arteriitis	A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.		hp.json	Granulomatous arteritis within arcuate arterial intima/media	http://purl.obolibrary.org/obo/HP_0033949							
HP:0033950	biolink:PhenotypicFeature	Cortical radial artery intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.		hp.json	Intraluminal thrombi within interlobular arterial lumen	http://purl.obolibrary.org/obo/HP_0033950							
HP:0033951	biolink:PhenotypicFeature	Cortical radial artery intraluminal organized thrombi	Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.		hp.json	Organized thrombi within interlobular arterial lumen	http://purl.obolibrary.org/obo/HP_0033951							
HP:0033952	biolink:PhenotypicFeature	Abnormal cortical radial artery endothelium morphology	Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.		hp.json	Abnormalities of the interlobular arterial endothelium	http://purl.obolibrary.org/obo/HP_0033952							
HP:0033953	biolink:PhenotypicFeature	Cortical radial artery endotheliosis	Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.		hp.json	Endotheliosis within interlobular arteries	http://purl.obolibrary.org/obo/HP_0033953							
HP:0033954	biolink:PhenotypicFeature	Cortical radial artery hypercellularity	Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.		hp.json	Endoarterial hypercellularity within interlobular artery	http://purl.obolibrary.org/obo/HP_0033954							
HP:0033955	biolink:PhenotypicFeature	Cortical radial artery leukocyte hypercellularity	A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).		hp.json	Endoarterial hypercellularity within interlobular artery consisting of leukocytes	http://purl.obolibrary.org/obo/HP_0033955							
HP:0033956	biolink:PhenotypicFeature	Cortical radial artery lymphocyte hypercellularity	A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.		hp.json	Endoarterial hypercellularity within interlobular artery consisting of lymphocytes	http://purl.obolibrary.org/obo/HP_0033956							
HP:0033957	biolink:PhenotypicFeature	Cortical radial artery neutrophil hypercellularity	A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.		hp.json	Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils	http://purl.obolibrary.org/obo/HP_0033957							
HP:0033958	biolink:PhenotypicFeature	Cortical radial artery foam cell hypercellularity	A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.		hp.json	Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells	http://purl.obolibrary.org/obo/HP_0033958							
HP:0033959	biolink:PhenotypicFeature	Cortical radial artery intima/media arteriosclerosis	Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.		hp.json	Arteriosclerosis within interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033959							
HP:0033960	biolink:PhenotypicFeature	Cortical radial artery intimal mucoid edema	Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.		hp.json	Intimal mucoid edema within interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033960							
HP:0033961	biolink:PhenotypicFeature	Cortical radial artery intima/media multilamellation	Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.		hp.json	Cortical radial artery intima/media onion skinning|Multilamellation (onion skinning) within interlobular arterial intima/media	http://purl.obolibrary.org/obo/HP_0033961							
HP:0033962	biolink:PhenotypicFeature	Cortical radial artery medial/intimal granulomatous arteriitis	A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.		hp.json		http://purl.obolibrary.org/obo/HP_0033962							
HP:0033963	biolink:PhenotypicFeature	Abnormal interlobular vein intima/media morphology	Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.		hp.json		http://purl.obolibrary.org/obo/HP_0033963							
HP:0033964	biolink:PhenotypicFeature	Interlobular intima/media venosclerosis	Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.		hp.json	Venosclerosis within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033964							
HP:0033965	biolink:PhenotypicFeature	Interlobular vein intimal mucoid edema	Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.		hp.json	Intimal mucoid edema within interlobular veins	http://purl.obolibrary.org/obo/HP_0033965							
HP:0033966	biolink:PhenotypicFeature	Interlobular vein intima/media amyloidosis	Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy		hp.json	Amyloidosis within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033966							
HP:0033967	biolink:PhenotypicFeature	Interlobular vein intima/media venulitis	Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.		hp.json	Venulitis within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033967							
HP:0033968	biolink:PhenotypicFeature	Interlobular vein intima/media granulomatous venulitis	A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.		hp.json	Granulomatous venulitis within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033968							
HP:0033969	biolink:PhenotypicFeature	Interlobular vein intima/media necrosis	Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.		hp.json	Necrosis within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033969							
HP:0033970	biolink:PhenotypicFeature	Interlobular vein intima/media liquefactive necrosis	A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.		hp.json	Liquefactive necrosis within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033970							
HP:0033971	biolink:PhenotypicFeature	Interlobular vein intima/media coagulative necrosis	A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.		hp.json		http://purl.obolibrary.org/obo/HP_0033971							
HP:0033972	biolink:PhenotypicFeature	Interlobular vein medial atrophy	Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.		hp.json	Medial atrophy within interlobular veins	http://purl.obolibrary.org/obo/HP_0033972							
HP:0033973	biolink:PhenotypicFeature	Interlobular vein medial hypertrophy	Increased thickness of middle layer of the interlobular veins of the kidney.		hp.json	Medial hypertrophy within interlobular veins	http://purl.obolibrary.org/obo/HP_0033973							
HP:0033974	biolink:PhenotypicFeature	Interlobular vein intima/media multilamellation	Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.		hp.json	Interlobular vein intima/media onion skinning|Multilamellation (onion skinning) within interlobular vein intima/media	http://purl.obolibrary.org/obo/HP_0033974							
HP:0033975	biolink:PhenotypicFeature	Absent second fingernail	Absence of the fingernail of the index (second) finger.		hp.json		http://purl.obolibrary.org/obo/HP_0033975							
HP:0033976	biolink:PhenotypicFeature	Volar fingernail	The presence of an extra nail on the palmar (volar, ventral) surface of the finger.		hp.json	Palmar fingernail|Ventral fingernail	http://purl.obolibrary.org/obo/HP_0033976							
HP:0033977	biolink:PhenotypicFeature	Talar aplasia	Absent talus owing to a congenital defect.		hp.json	Absent talus|Talus aplasia	http://purl.obolibrary.org/obo/HP_0033977							
HP:0033978	biolink:PhenotypicFeature	Reduced beta-hexosaminidase activity	Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.		hp.json		http://purl.obolibrary.org/obo/HP_0033978							
HP:0033979	biolink:PhenotypicFeature	Excessive dynamic airway collapse	Excessive anterior displacement of the tracheal and/ or bronchial membranous wall.		hp.json	Membranous tracheobronchomalacia	http://purl.obolibrary.org/obo/HP_0033979							
HP:0033980	biolink:PhenotypicFeature	Paroxysmal tonic upgaze	Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.		hp.json		http://purl.obolibrary.org/obo/HP_0033980							
HP:0033981	biolink:PhenotypicFeature	Vertebral artery tortuosity	Abnormal tortuous (i.e., twisted) form of the vertebral arteries.		hp.json	Tortuous vertebral arteries	http://purl.obolibrary.org/obo/HP_0033981							
HP:0033982	biolink:PhenotypicFeature	Celiac artery dissection	A separation (dissection) of the layers of the celiac artery wall.		hp.json		http://purl.obolibrary.org/obo/HP_0033982							
HP:0033983	biolink:PhenotypicFeature	Decreased circulating apolipoprotein C-II concentration	Reduced concentration of apolipoprotein C-II in the blood circulation.		hp.json	Decreased plasma apolipoprotein C-II	http://purl.obolibrary.org/obo/HP_0033983							
HP:0033984	biolink:PhenotypicFeature	Increased urinary 8-oxo-7,8-dihydroguanosine level	An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.		hp.json	Increased urinary 8-oxo-7,8-dihydroguanosine|Increased urinary 8-oxo-Gsn level|Increased urine 8-oxo-7,8-dihydroguanosine|Increased urine 8-oxo-GMP	http://purl.obolibrary.org/obo/HP_0033984							
HP:0033985	biolink:PhenotypicFeature	Elongated femoral neck	Increased length of the neck of the femur.		hp.json	Long femoral neck	http://purl.obolibrary.org/obo/HP_0033985							
HP:0033986	biolink:PhenotypicFeature	Tortuous lymphatic vessels	The presence of an increased number of twists and turns of lymphatic vessels.		hp.json	Tortuous lymphatics	http://purl.obolibrary.org/obo/HP_0033986							
HP:0033987	biolink:PhenotypicFeature	Phosphaturic mesenchymal tumor	A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.		hp.json		http://purl.obolibrary.org/obo/HP_0033987							
HP:0040004	biolink:PhenotypicFeature	Abnormality of corneal shape		UMLS:C4022500	hp.json		http://purl.obolibrary.org/obo/HP_0040004							
HP:0040006	biolink:PhenotypicFeature	Mortality/Aging		UMLS:C4022499	hp.json		http://purl.obolibrary.org/obo/HP_0040006							
HP:0040007	biolink:PhenotypicFeature	Absent pigmentation of chest	Lack of skin pigmentation (coloring) of the chest.	UMLS:C4022498	hp.json	Lack of skin coloring on chest|Lack of skin colouring on chest	http://purl.obolibrary.org/obo/HP_0040007							
HP:0040008	biolink:PhenotypicFeature	Aplasia of facial bones		UMLS:C1385254|UMLS:C4022497|UMLS:C4280300|UMLS:C4280301	hp.json	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	biolink:PhenotypicFeature	Hyperparakeratosis	Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.	SNOMEDCT_US:125554003|UMLS:C1265968	hp.json		http://purl.obolibrary.org/obo/HP_0040009							
HP:0040010	biolink:PhenotypicFeature	Small posterior fossa		UMLS:C4022496	hp.json		http://purl.obolibrary.org/obo/HP_0040010							
HP:0040011	biolink:PhenotypicFeature	Flat posterior fossa		UMLS:C4022495	hp.json		http://purl.obolibrary.org/obo/HP_0040011							
HP:0040012	biolink:PhenotypicFeature	Chromosome breakage	Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.	MSH:D019457|UMLS:C0376628	hp.json	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							
HP:0040013	biolink:PhenotypicFeature	Decreased mitochondrial number		UMLS:C4022493	hp.json		http://purl.obolibrary.org/obo/HP_0040013							
HP:0040014	biolink:PhenotypicFeature	Increased mitochondrial number		UMLS:C4022492	hp.json		http://purl.obolibrary.org/obo/HP_0040014							
HP:0040015	biolink:PhenotypicFeature	Increased activity of mitochondrial respiratory chain		UMLS:C4022491	hp.json		http://purl.obolibrary.org/obo/HP_0040015							
HP:0040016	biolink:PhenotypicFeature	Prominent coccyx		UMLS:C4022490	hp.json	Prominent tailbone	http://purl.obolibrary.org/obo/HP_0040016							
HP:0040017	biolink:PhenotypicFeature	Protruding coccyx		UMLS:C4022489	hp.json	Protruding tailbone	http://purl.obolibrary.org/obo/HP_0040017							
HP:0040018	biolink:PhenotypicFeature	Clinodactyly of hallux		UMLS:C4022488|UMLS:C4280299	hp.json	Curvature of big toe	http://purl.obolibrary.org/obo/HP_0040018							
HP:0040019	biolink:PhenotypicFeature	Finger clinodactyly		SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280298	hp.json	Curvature of finger	http://purl.obolibrary.org/obo/HP_0040019							
HP:0040020	biolink:PhenotypicFeature	Radial deviation of the 5th finger		UMLS:C4022487	hp.json		http://purl.obolibrary.org/obo/HP_0040020							
HP:0040021	biolink:PhenotypicFeature	Radial deviation of the thumb		UMLS:C2168996	hp.json		http://purl.obolibrary.org/obo/HP_0040021							
HP:0040022	biolink:PhenotypicFeature	Clinodactyly of the 2nd finger		UMLS:C4022486	hp.json	Curvature of index finger|Second finger clinodactyly	http://purl.obolibrary.org/obo/HP_0040022							
HP:0040023	biolink:PhenotypicFeature	Clinodactyly of the thumb		UMLS:C1856888|UMLS:C4280297	hp.json	Curvature of thumb	http://purl.obolibrary.org/obo/HP_0040023							
HP:0040024	biolink:PhenotypicFeature	Clinodactyly of the 3rd finger		UMLS:C4022485|UMLS:C4280296	hp.json	Curvature of middle finger	http://purl.obolibrary.org/obo/HP_0040024							
HP:0040025	biolink:PhenotypicFeature	Clinodactyly of the 4th finger		UMLS:C4022484|UMLS:C4280295	hp.json	Curvature of ring finger	http://purl.obolibrary.org/obo/HP_0040025							
HP:0040030	biolink:PhenotypicFeature	Chorioretinal hypopigmentation		UMLS:C4022483	hp.json		http://purl.obolibrary.org/obo/HP_0040030							
HP:0040031	biolink:PhenotypicFeature	Chorioretinal hyperpigmentation		UMLS:C4022482	hp.json		http://purl.obolibrary.org/obo/HP_0040031							
HP:0040032	biolink:PhenotypicFeature	Hypoplasia of the upper eyelids		UMLS:C4022481	hp.json	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	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the fifth metatarsal bone		UMLS:C4022480	hp.json	Absent/small 5th long bone of foot|Absent/underdeveloped 5th long bone of foot	http://purl.obolibrary.org/obo/HP_0040033							
HP:0040034	biolink:PhenotypicFeature	Abnormality of the second metatarsal bone		UMLS:C4022479	hp.json	Abnormality of the 2nd long bone of foot	http://purl.obolibrary.org/obo/HP_0040034							
HP:0040035	biolink:PhenotypicFeature	Abnormality of the fourth metatarsal bone		UMLS:C4022478	hp.json	Abnormality of the 4th long bone of foot	http://purl.obolibrary.org/obo/HP_0040035							
HP:0040036	biolink:PhenotypicFeature	Onychogryposis of fingernail	Thickened fingernails.	UMLS:C4022477	hp.json	Overgrowth and curving of fingernail	http://purl.obolibrary.org/obo/HP_0040036							
HP:0040037	biolink:PhenotypicFeature	obsolete Thin fingernail (obsolete)			hp.json		http://purl.obolibrary.org/obo/HP_0040037							
HP:0040038	biolink:PhenotypicFeature	obsolete Thin toenail			hp.json		http://purl.obolibrary.org/obo/HP_0040038							
HP:0040039	biolink:PhenotypicFeature	Onycholysis of fingernails		UMLS:C3553044	hp.json	Detachment of fingernails|Onycholysis of fingernail	http://purl.obolibrary.org/obo/HP_0040039							
HP:0040040	biolink:PhenotypicFeature	Toenail onycholysis	Painless and spontaneous separation of a toenail from the nail bed.	UMLS:C4022476	hp.json	Detachment of toenails|Onycholysis of toenails	http://purl.obolibrary.org/obo/HP_0040040							
HP:0040042	biolink:PhenotypicFeature	Aplasia of the eccrine sweat glands		UMLS:C4022475	hp.json	Absent eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0040042							
HP:0040043	biolink:PhenotypicFeature	Hypoplasia of the eccrine sweat glands		UMLS:C4022474	hp.json	Underdeveloped major sweat glands	http://purl.obolibrary.org/obo/HP_0040043							
HP:0040044	biolink:PhenotypicFeature	Hypoplasia of the diaphragm		UMLS:C4022473	hp.json	Underdeveloped diaphragm	http://purl.obolibrary.org/obo/HP_0040044							
HP:0040045	biolink:PhenotypicFeature	Abnormal hemidiaphragm morphology		UMLS:C4022472	hp.json	Abnormality of the hemidiaphragms	http://purl.obolibrary.org/obo/HP_0040045							
HP:0040046	biolink:PhenotypicFeature	Abnormal left hemidiaphragm morphology		UMLS:C4022471	hp.json	Abnormality of the left hemidiaphragm	http://purl.obolibrary.org/obo/HP_0040046							
HP:0040047	biolink:PhenotypicFeature	Abnormal right hemidiaphragm morphology		UMLS:C4022470	hp.json	Abnormality of the right hemidiaphragm	http://purl.obolibrary.org/obo/HP_0040047							
HP:0040048	biolink:PhenotypicFeature	obsolete Aplasia of the left hemidiaphragm			hp.json		http://purl.obolibrary.org/obo/HP_0040048							
HP:0040049	biolink:PhenotypicFeature	Macular edema	Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.	MSH:D008269|SNOMEDCT_US:37231002|UMLS:C0271051	hp.json	Macular oedema	http://purl.obolibrary.org/obo/HP_0040049							
HP:0040050	biolink:PhenotypicFeature	Sparse upper eyelashes		UMLS:C4022468	hp.json	Partial absence of upper eyelashes|Sparse upper eyelashes|Hypotrichosis of upper eyelashes	http://purl.obolibrary.org/obo/HP_0040050							
HP:0040051	biolink:PhenotypicFeature	Abnormality of upper eyelashes		UMLS:C4022467	hp.json	Abnormality of upper eyelashes	http://purl.obolibrary.org/obo/HP_0040051							
HP:0040052	biolink:PhenotypicFeature	Abnormality of lower eyelashes		UMLS:C4022466	hp.json	Abnormality of lower eyelashes	http://purl.obolibrary.org/obo/HP_0040052							
HP:0040053	biolink:PhenotypicFeature	Long lower eyelashes		UMLS:C4022465	hp.json	Increased length of lower eyelashes|Long lower eyelashes|Ciliary trichomegaly of lower eyelashes	http://purl.obolibrary.org/obo/HP_0040053							
HP:0040054	biolink:PhenotypicFeature	Short upper eyelashes		UMLS:C4022464	hp.json	Decreased length of upper eyelashes|Short upper eyelashes	http://purl.obolibrary.org/obo/HP_0040054							
HP:0040055	biolink:PhenotypicFeature	Short lower eyelashes		UMLS:C4022463	hp.json	Decreased length of lower eyelashes|Short lower eyelashes	http://purl.obolibrary.org/obo/HP_0040055							
HP:0040056	biolink:PhenotypicFeature	Absent upper eyelashes		UMLS:C4022462|UMLS:C4280255|UMLS:C4280294	hp.json	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	biolink:PhenotypicFeature	Abnormality of nasal hair		UMLS:C4021858	hp.json	Abnormality of nasal hair|Abnormality of nose hair	http://purl.obolibrary.org/obo/HP_0040057							
HP:0040059	biolink:PhenotypicFeature	Calcification of ribs		UMLS:C4022461	hp.json		http://purl.obolibrary.org/obo/HP_0040059							
HP:0040061	biolink:PhenotypicFeature	Osteosclerosis of the radius		UMLS:C4022460	hp.json		http://purl.obolibrary.org/obo/HP_0040061							
HP:0040062	biolink:PhenotypicFeature	Slender radius		UMLS:C1968813	hp.json		http://purl.obolibrary.org/obo/HP_0040062							
HP:0040063	biolink:PhenotypicFeature	Decreased adipose tissue		UMLS:C4022459	hp.json	Decreased fat tissue	http://purl.obolibrary.org/obo/HP_0040063							
HP:0040064	biolink:PhenotypicFeature	Abnormality of limbs		SNOMEDCT_US:445144002|UMLS:C0239337|UMLS:C4073131	hp.json	Abnormal limbs|Abnormality of limbs|Limb anomaly|Dysmelia	http://purl.obolibrary.org/obo/HP_0040064							
HP:0040065	biolink:PhenotypicFeature	obsolete Abnormal morphology of bones of the upper limbs			hp.json		http://purl.obolibrary.org/obo/HP_0040065							
HP:0040066	biolink:PhenotypicFeature	obsolete Abnormal morphology of bones of the lower limbs			hp.json		http://purl.obolibrary.org/obo/HP_0040066							
HP:0040068	biolink:PhenotypicFeature	Abnormality of limb bone		UMLS:C4022456	hp.json	Abnormality of limb bone	http://purl.obolibrary.org/obo/HP_0040068							
HP:0040069	biolink:PhenotypicFeature	Abnormal lower limb bone morphology		UMLS:C4022455|UMLS:C4022457	hp.json	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	biolink:PhenotypicFeature	Abnormal upper limb bone morphology		UMLS:C4022454|UMLS:C4022458	hp.json	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	biolink:PhenotypicFeature	Abnormal morphology of ulna		UMLS:C4022453	hp.json		http://purl.obolibrary.org/obo/HP_0040071							
HP:0040072	biolink:PhenotypicFeature	Abnormality of forearm bone		UMLS:C4022452	hp.json	Abnormality of forearm bone	http://purl.obolibrary.org/obo/HP_0040072							
HP:0040073	biolink:PhenotypicFeature	Abnormal forearm bone morphology		UMLS:C4022451	hp.json	Abnormal shape of of forearm bone	http://purl.obolibrary.org/obo/HP_0040073							
HP:0040075	biolink:PhenotypicFeature	Hypopituitarism		MSH:D007018|SNOMEDCT_US:74728003|UMLS:C0020635	hp.json		http://purl.obolibrary.org/obo/HP_0040075							
HP:0040077	biolink:PhenotypicFeature	obsolete Abnormal concentration of calcium in blood			hp.json		http://purl.obolibrary.org/obo/HP_0040077							
HP:0040078	biolink:PhenotypicFeature	Axonal degeneration		UMLS:C1837496	hp.json		http://purl.obolibrary.org/obo/HP_0040078							
HP:0040079	biolink:PhenotypicFeature	Irregular dentition		UMLS:C1856765	hp.json	Irregular teeth	http://purl.obolibrary.org/obo/HP_0040079							
HP:0040080	biolink:PhenotypicFeature	Anteverted ears		UMLS:C1857055	hp.json		http://purl.obolibrary.org/obo/HP_0040080							
HP:0040081	biolink:PhenotypicFeature	Abnormal circulating creatine kinase concentration	Any deviation from the normal circulating creatine kinase concentration.	UMLS:C4022449	hp.json	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							
HP:0040082	biolink:PhenotypicFeature	Happy demeanor	A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.	UMLS:C1856115	hp.json	Happy demeanor|Happy demeanour	http://purl.obolibrary.org/obo/HP_0040082							
HP:0040083	biolink:PhenotypicFeature	Toe walking		SNOMEDCT_US:250018006|UMLS:C0427144	hp.json	Toe walking|Toe-walking	http://purl.obolibrary.org/obo/HP_0040083							
HP:0040084	biolink:PhenotypicFeature	Abnormal circulating renin	A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.	UMLS:C4021038	hp.json	Abnormal circulating renin|Abnormal plasma renin	http://purl.obolibrary.org/obo/HP_0040084							
HP:0040085	biolink:PhenotypicFeature	Abnormal circulating aldosterone		UMLS:C0857898	hp.json	Abnormal circulating aldosterone|Abnormal plasma aldosterone	http://purl.obolibrary.org/obo/HP_0040085							
HP:0040086	biolink:PhenotypicFeature	Abnormal prolactin level		UMLS:C4022448	hp.json	Abnormal prolactin level	http://purl.obolibrary.org/obo/HP_0040086							
HP:0040087	biolink:PhenotypicFeature	Abnormal blood folate concentration	Any deviation from the normal concentration of folate in the blood circulation.	UMLS:C4021037	hp.json	Abnormal serum folate|Abnormality of folate in blood	http://purl.obolibrary.org/obo/HP_0040087							
HP:0040088	biolink:PhenotypicFeature	Abnormal lymphocyte count	Any abnormality in the total number of lymphocytes in the blood.	SNOMEDCT_US:165534000|UMLS:C0580550	hp.json	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							
HP:0040089	biolink:PhenotypicFeature	Abnormal natural killer cell count	Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.	UMLS:C4021036	hp.json	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							
HP:0040090	biolink:PhenotypicFeature	Abnormality of the tympanic membrane	An abnormality of the tympanic membrane	UMLS:C4022447	hp.json	Abnormality of the eardrum	http://purl.obolibrary.org/obo/HP_0040090							
HP:0040091	biolink:PhenotypicFeature	Asymmetry of the size of ears		UMLS:C4022446	hp.json	Asymmetry of the size of ears	http://purl.obolibrary.org/obo/HP_0040091							
HP:0040092	biolink:PhenotypicFeature	Asymmetry of the shape of the ears		UMLS:C4022445	hp.json	Asymmetry of the shape of the ears	http://purl.obolibrary.org/obo/HP_0040092							
HP:0040093	biolink:PhenotypicFeature	Asymmetry of the position of the ears		UMLS:C4022444	hp.json	Uneven ears	http://purl.obolibrary.org/obo/HP_0040093							
HP:0040095	biolink:PhenotypicFeature	Neoplasm of the outer ear	A tumor (abnormal growth of tissue) of the outer ear.	NCIT:C3262|UMLS:C4022443	hp.json	Outer ear tumor|Outer ear tumour	http://purl.obolibrary.org/obo/HP_0040095							
HP:0040096	biolink:PhenotypicFeature	Neoplasm of the inner ear	A tumor (abnormal growth of tissue) of the inner ear.	NCIT:C3262|UMLS:C1512779	hp.json	Inner ear tumor|Inner ear tumour	http://purl.obolibrary.org/obo/HP_0040096							
HP:0040097	biolink:PhenotypicFeature	Neoplasm of the ceruminal gland	A tumor (abnormal growth of tissue) of the ceruminal gland.	NCIT:C3262|SNOMEDCT_US:403945001|SNOMEDCT_US:52707009|UMLS:C0334352	hp.json	Adenoma of the ceruminous gland|Ceruminoma|Ceruminous adenoma	http://purl.obolibrary.org/obo/HP_0040097							
HP:0040098	biolink:PhenotypicFeature	Basalioma of the outer ear		UMLS:C4022442	hp.json		http://purl.obolibrary.org/obo/HP_0040098							
HP:0040099	biolink:PhenotypicFeature	Abnormality of the round window		UMLS:C4022441	hp.json		http://purl.obolibrary.org/obo/HP_0040099							
HP:0040100	biolink:PhenotypicFeature	Abnormality of the vestibular window		UMLS:C4021035	hp.json	Abnormality of the oval window	http://purl.obolibrary.org/obo/HP_0040100							
HP:0040101	biolink:PhenotypicFeature	Cutaneous atresia of the external auditory canal		UMLS:C4022440	hp.json		http://purl.obolibrary.org/obo/HP_0040101							
HP:0040102	biolink:PhenotypicFeature	Osseous atresia of the external auditory canal		UMLS:C4022439	hp.json		http://purl.obolibrary.org/obo/HP_0040102							
HP:0040103	biolink:PhenotypicFeature	Cutaneous stenosis of the external auditory canal		UMLS:C4022438	hp.json		http://purl.obolibrary.org/obo/HP_0040103							
HP:0040104	biolink:PhenotypicFeature	Osseous stenosis of the external auditory canal		UMLS:C4022437	hp.json		http://purl.obolibrary.org/obo/HP_0040104							
HP:0040106	biolink:PhenotypicFeature	Morphological abnormality of the lateral semicircular canal		UMLS:C4021034	hp.json	Morphological abnormality of the horizontal semicircular canal	http://purl.obolibrary.org/obo/HP_0040106							
HP:0040107	biolink:PhenotypicFeature	Morphological abnormality of the posterior semicircular canal		UMLS:C4022436	hp.json		http://purl.obolibrary.org/obo/HP_0040107							
HP:0040108	biolink:PhenotypicFeature	Morphological abnormality of the anterior semicircular canal		UMLS:C4022435	hp.json		http://purl.obolibrary.org/obo/HP_0040108							
HP:0040109	biolink:PhenotypicFeature	Morphological abnormality of the utricle		UMLS:C4022434	hp.json		http://purl.obolibrary.org/obo/HP_0040109							
HP:0040110	biolink:PhenotypicFeature	Morphological abnormality of the saccule		UMLS:C4022433	hp.json		http://purl.obolibrary.org/obo/HP_0040110							
HP:0040111	biolink:PhenotypicFeature	Bilateral external ear deformity		UMLS:C4022432	hp.json		http://purl.obolibrary.org/obo/HP_0040111							
HP:0040112	biolink:PhenotypicFeature	Abnormal number of tubercles		UMLS:C4022431	hp.json		http://purl.obolibrary.org/obo/HP_0040112							
HP:0040113	biolink:PhenotypicFeature	Old-aged sensorineural hearing impairment		MSH:D011304|SNOMEDCT_US:49526009|UMLS:C0033074	hp.json	Presbycusis	http://purl.obolibrary.org/obo/HP_0040113							
HP:0040114	biolink:PhenotypicFeature	Absence of the reflex of the tensor tympani muscle		UMLS:C4022430	hp.json		http://purl.obolibrary.org/obo/HP_0040114							
HP:0040115	biolink:PhenotypicFeature	Abnormality of the Eustachian tube		SNOMEDCT_US:204250005|UMLS:C0262475	hp.json		http://purl.obolibrary.org/obo/HP_0040115							
HP:0040116	biolink:PhenotypicFeature	Aplasia of the Eustachian tube		SNOMEDCT_US:75231006|UMLS:C0266616	hp.json	Absent eustachian tube	http://purl.obolibrary.org/obo/HP_0040116							
HP:0040117	biolink:PhenotypicFeature	Atresia of the Eustachian tube		UMLS:C1388953	hp.json		http://purl.obolibrary.org/obo/HP_0040117							
HP:0040118	biolink:PhenotypicFeature	Stenosis of the Eustachian tube		SNOMEDCT_US:80101003|UMLS:C0271469	hp.json		http://purl.obolibrary.org/obo/HP_0040118							
HP:0040119	biolink:PhenotypicFeature	Unilateral conductive hearing impairment		UMLS:C4022428	hp.json		http://purl.obolibrary.org/obo/HP_0040119							
HP:0040120	biolink:PhenotypicFeature	Abnormality of the reflex of the tensor tympani muscle		UMLS:C4022427	hp.json		http://purl.obolibrary.org/obo/HP_0040120							
HP:0040121	biolink:PhenotypicFeature	Abnormality of the acoustic reflex	An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.	UMLS:C4022426	hp.json	Abnormal auditory reflex|Abnormal middle-ear-muscles (MEM) reflex|Abnormality of stapedial reflex	http://purl.obolibrary.org/obo/HP_0040121							
HP:0040122	biolink:PhenotypicFeature	Impairment of the the acoustic reflex		UMLS:C4022425	hp.json		http://purl.obolibrary.org/obo/HP_0040122							
HP:0040123	biolink:PhenotypicFeature	Impairment of the reflex of the tensor tympani muscle		UMLS:C4022424	hp.json		http://purl.obolibrary.org/obo/HP_0040123							
HP:0040124	biolink:PhenotypicFeature	Patent tuba eustachii		UMLS:C4021033	hp.json	Open tuba eustachii	http://purl.obolibrary.org/obo/HP_0040124							
HP:0040126	biolink:PhenotypicFeature	Abnormal vitamin B12 level	A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.	UMLS:C4021032	hp.json	Abnormal serum cobalamin level	http://purl.obolibrary.org/obo/HP_0040126							
HP:0040127	biolink:PhenotypicFeature	Abnormal sweat homeostasis	An abnormality of the composition of sweat or the levels of its components.	UMLS:C4022423	hp.json		http://purl.obolibrary.org/obo/HP_0040127							
HP:0040128	biolink:PhenotypicFeature	Abnormal sweat electrolytes		UMLS:C4022422	hp.json		http://purl.obolibrary.org/obo/HP_0040128							
HP:0040129	biolink:PhenotypicFeature	Abnormal nerve conduction velocity		UMLS:C1866772	hp.json	Abnormal nerve conduction|Abnormal nerve conduction velocities|Nerve conduction abnormalities	http://purl.obolibrary.org/obo/HP_0040129							
HP:0040130	biolink:PhenotypicFeature	Abnormal serum iron concentration		UMLS:C0235760	hp.json		http://purl.obolibrary.org/obo/HP_0040130							
HP:0040131	biolink:PhenotypicFeature	Abnormal motor nerve conduction velocity		UMLS:C4021031	hp.json		http://purl.obolibrary.org/obo/HP_0040131							
HP:0040132	biolink:PhenotypicFeature	Abnormal sensory nerve conduction velocity		UMLS:C4022421	hp.json		http://purl.obolibrary.org/obo/HP_0040132							
HP:0040133	biolink:PhenotypicFeature	Abnormal circulating ferritin concentration	A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.	UMLS:C0853228	hp.json	Abnormal serum ferritin|Abnormal plasma ferritin	http://purl.obolibrary.org/obo/HP_0040133							
HP:0040134	biolink:PhenotypicFeature	Abnormal hepatic iron concentration		UMLS:C4022420	hp.json	Abnormal liver iron concentration|Abnormal liver iron level	http://purl.obolibrary.org/obo/HP_0040134							
HP:0040135	biolink:PhenotypicFeature	Abnormal transferrin saturation	Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.	UMLS:C4022419	hp.json		http://purl.obolibrary.org/obo/HP_0040135							
HP:0040137	biolink:PhenotypicFeature	Comedonal acne	A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.	UMLS:C4022418	hp.json	Comedogenic acne	http://purl.obolibrary.org/obo/HP_0040137							
HP:0040138	biolink:PhenotypicFeature	Mucinous histiocytosis	Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.	SNOMEDCT_US:87412005|UMLS:C0334126	hp.json	Histiocytosis, mucinous	http://purl.obolibrary.org/obo/HP_0040138							
HP:0040139	biolink:PhenotypicFeature	Lipogranulomatosis	Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.	SNOMEDCT_US:189099001|SNOMEDCT_US:36279001|SNOMEDCT_US:416439000|UMLS:C1704214	hp.json		http://purl.obolibrary.org/obo/HP_0040139							
HP:0040140	biolink:PhenotypicFeature	Degeneration of the striatum		UMLS:C4022417	hp.json		http://purl.obolibrary.org/obo/HP_0040140							
HP:0040141	biolink:PhenotypicFeature	Tardive dyskinesia		MSH:D000071057|UMLS:C0686347	hp.json		http://purl.obolibrary.org/obo/HP_0040141							
HP:0040142	biolink:PhenotypicFeature	Reduced 5-oxoprolinase level	Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.	MSH:C535322|SNOMEDCT_US:26132002|UMLS:C0268525	hp.json	5-oxoprolinase deficiency	http://purl.obolibrary.org/obo/HP_0040142							
HP:0040143	biolink:PhenotypicFeature	Dystopic os odontoideum	Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus	UMLS:C3552843	hp.json		http://purl.obolibrary.org/obo/HP_0040143							
HP:0040144	biolink:PhenotypicFeature	L-2-hydroxyglutaric aciduria	An increase in the level of L-2-hydroxyglutaric acid in the urine.	SNOMEDCT_US:237961001|UMLS:C1855995	hp.json		http://purl.obolibrary.org/obo/HP_0040144							
HP:0040145	biolink:PhenotypicFeature	Dicarboxylic acidemia		UMLS:C4022416	hp.json		http://purl.obolibrary.org/obo/HP_0040145							
HP:0040146	biolink:PhenotypicFeature	D-2-hydroxyglutaric acidemia		UMLS:C4022415	hp.json		http://purl.obolibrary.org/obo/HP_0040146							
HP:0040147	biolink:PhenotypicFeature	L-2-hydroxyglutaric acidemia		UMLS:C3888081	hp.json		http://purl.obolibrary.org/obo/HP_0040147							
HP:0040148	biolink:PhenotypicFeature	Cortical myoclonus	Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).	SNOMEDCT_US:698835006|UMLS:C3698239	hp.json		http://purl.obolibrary.org/obo/HP_0040148							
HP:0040149	biolink:PhenotypicFeature	Woolly scalp hair	The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.	UMLS:C4015203|UMLS:C4280291|UMLS:C4280292|UMLS:C4280293	hp.json	Nappy scalp hair texture|Afro-textured scalp hair|Kinky scalp hair texture|Wooly scalp hair	http://purl.obolibrary.org/obo/HP_0040149							
HP:0040150	biolink:PhenotypicFeature	Epiblepharon of upper lid		MSH:C565051|UMLS:C1851582	hp.json		http://purl.obolibrary.org/obo/HP_0040150							
HP:0040151	biolink:PhenotypicFeature	Epiblepharon of lower lid		MSH:C565051|UMLS:C1851583	hp.json		http://purl.obolibrary.org/obo/HP_0040151							
HP:0040154	biolink:PhenotypicFeature	Acne inversa	A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.	MSH:D017497|SNOMEDCT_US:59393003|UMLS:C0162836	hp.json	Hidradenitis suppurativa|Pyoderma fistulans significa|Smoker's boils|Verneuil's disease	http://purl.obolibrary.org/obo/HP_0040154							
HP:0040155	biolink:PhenotypicFeature	Elevated urinary 3-hydroxybutyric acid	An increased amount of 3-hydroxybutyric acid in the urine.	UMLS:C4022414	hp.json		http://purl.obolibrary.org/obo/HP_0040155							
HP:0040156	biolink:PhenotypicFeature	Elevated urinary carboxylic acid	An increased amount of carboxylic acid in the urine.	UMLS:C4022413	hp.json		http://purl.obolibrary.org/obo/HP_0040156							
HP:0040157	biolink:PhenotypicFeature	Abnormal intermamillary distance		UMLS:C4022412	hp.json		http://purl.obolibrary.org/obo/HP_0040157							
HP:0040158	biolink:PhenotypicFeature	Short intermamillary distance		UMLS:C4022411	hp.json		http://purl.obolibrary.org/obo/HP_0040158							
HP:0040159	biolink:PhenotypicFeature	Abnormal spaced incisors		UMLS:C4022410	hp.json	Abnormal spaced incisors|Abnormality of spacing of front teeth|Abnormality of spacing of incisors	http://purl.obolibrary.org/obo/HP_0040159							
HP:0040160	biolink:PhenotypicFeature	Generalized osteoporosis		MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456|UMLS:C3805887	hp.json	Generalised osteoporosis|Generalised osteoporosis with pathologic fractures|Generalized osteoporosis with pathologic fractures	http://purl.obolibrary.org/obo/HP_0040160							
HP:0040161	biolink:PhenotypicFeature	Localized osteoporosis		UMLS:C1398367	hp.json	Localised osteoporosis	http://purl.obolibrary.org/obo/HP_0040161							
HP:0040162	biolink:PhenotypicFeature	Orthokeratosis	Formation of an anuclear keratin layer	SNOMEDCT_US:708474007|UMLS:C1843359	hp.json		http://purl.obolibrary.org/obo/HP_0040162							
HP:0040163	biolink:PhenotypicFeature	Abnormal pelvis bone morphology		UMLS:C4073132	hp.json	Abnormal shape of pelvis bone	http://purl.obolibrary.org/obo/HP_0040163							
HP:0040164	biolink:PhenotypicFeature	Lipomas of eyelids	Fatty tumors on the eyelids.	UMLS:C4073133	hp.json	Fatty tumors on the eyelids|Fatty tumours on the eyelids	http://purl.obolibrary.org/obo/HP_0040164							
HP:0040165	biolink:PhenotypicFeature	Periostitis	Inflammation of the periosteum	MSH:D010522|SNOMEDCT_US:41910004|UMLS:C0031111	hp.json	Periostalgia	http://purl.obolibrary.org/obo/HP_0040165							
HP:0040166	biolink:PhenotypicFeature	Abnormality of the periosteum		UMLS:C4073134	hp.json		http://purl.obolibrary.org/obo/HP_0040166							
HP:0040167	biolink:PhenotypicFeature	Facial papilloma		SNOMEDCT_US:240533004|UMLS:C0343643	hp.json	Facial wart|Facial verruca	http://purl.obolibrary.org/obo/HP_0040167							
HP:0040168	biolink:PhenotypicFeature	obsolete Focal seizures, afebril			hp.json		http://purl.obolibrary.org/obo/HP_0040168							
HP:0040169	biolink:PhenotypicFeature	Loose anagen hair		UMLS:C3554793	hp.json		http://purl.obolibrary.org/obo/HP_0040169							
HP:0040170	biolink:PhenotypicFeature	Abnormality of hair growth		UMLS:C4073136	hp.json		http://purl.obolibrary.org/obo/HP_0040170							
HP:0040171	biolink:PhenotypicFeature	Decreased serum testosterone concentration		SNOMEDCT_US:131078003|UMLS:C1295654|UMLS:C4073137	hp.json	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	biolink:PhenotypicFeature	Abnormality of occipitofrontalis muscle		UMLS:C4073138	hp.json		http://purl.obolibrary.org/obo/HP_0040172							
HP:0040173	biolink:PhenotypicFeature	Abnormality of the tongue muscle		UMLS:C4073139	hp.json	Abnormality of the tongue muscle|Abnormality of lingual muscle	http://purl.obolibrary.org/obo/HP_0040173							
HP:0040174	biolink:PhenotypicFeature	Abnormality of extrinsic muscle of tongue		UMLS:C4073140	hp.json	Abnormality of extrinsic lingual muscle	http://purl.obolibrary.org/obo/HP_0040174							
HP:0040175	biolink:PhenotypicFeature	Platelet-activating factor acetylhydrolase deficiency	Reduced level of platelet-activating factor acetylhydrolase.	MSH:C566640|UMLS:C3280315	hp.json		http://purl.obolibrary.org/obo/HP_0040175							
HP:0040176	biolink:PhenotypicFeature	Abnormal circulating phospholipid concentration	Any deviation from the normal concentration of a phospholipid in the blood circulation.	UMLS:C4073141	hp.json	Abnormal level of phospholipids	http://purl.obolibrary.org/obo/HP_0040176							
HP:0040177	biolink:PhenotypicFeature	Abnormal level of platelet-activating factor		UMLS:C4073142	hp.json	Abnormal level of PAF	http://purl.obolibrary.org/obo/HP_0040177							
HP:0040178	biolink:PhenotypicFeature	Increased level of platelet-activating factor		UMLS:C4073143	hp.json	Increased level of PAF	http://purl.obolibrary.org/obo/HP_0040178							
HP:0040179	biolink:PhenotypicFeature	Decreased level of platelet-activating factor		UMLS:C4073144	hp.json	Decreased level of PAF	http://purl.obolibrary.org/obo/HP_0040179							
HP:0040180	biolink:PhenotypicFeature	obsolete Hyperkeratosis pilaris			hp.json		http://purl.obolibrary.org/obo/HP_0040180							
HP:0040181	biolink:PhenotypicFeature	Chapped lip	Cracking, fissuring, and peeling of the skin of the lips.	MSH:D019557|SNOMEDCT_US:16459000|SNOMEDCT_US:238751002|SNOMEDCT_US:248182008|SNOMEDCT_US:402294001|UMLS:C0263449|UMLS:C0424489	hp.json	Chapped lip|Chapped lips|Dry lips|Cheilitis simplex|Common cheilitis|Perioral dermatitis	http://purl.obolibrary.org/obo/HP_0040181							
HP:0040182	biolink:PhenotypicFeature	Inappropriate sinus tachycardia	Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.	SNOMEDCT_US:425582007|UMLS:C1881170	hp.json		http://purl.obolibrary.org/obo/HP_0040182							
HP:0040183	biolink:PhenotypicFeature	Encopresis		SNOMEDCT_US:302690004|UMLS:C2945606	hp.json	Stool holding|Stool soiling	http://purl.obolibrary.org/obo/HP_0040183							
HP:0040184	biolink:PhenotypicFeature	Oral bleeding		MSH:D006472|SNOMEDCT_US:22490002|UMLS:C0029163	hp.json	Oral bleeding|Oral haemorrhage|Oral hemorrhage	http://purl.obolibrary.org/obo/HP_0040184							
HP:0040185	biolink:PhenotypicFeature	Macrothrombocytopenia		UMLS:C2751260	hp.json	Macrothrombozytopenia	http://purl.obolibrary.org/obo/HP_0040185							
HP:0040186	biolink:PhenotypicFeature	Maculopapular exanthema	A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.	SNOMEDCT_US:247471006|SNOMEDCT_US:47725002|UMLS:C0423791	hp.json		http://purl.obolibrary.org/obo/HP_0040186							
HP:0040187	biolink:PhenotypicFeature	Neonatal sepsis	Systemic inflammatory response to infection in newborn babies.	MSH:D000071074|SNOMEDCT_US:206376005|UMLS:C0456103	hp.json		http://purl.obolibrary.org/obo/HP_0040187							
HP:0040188	biolink:PhenotypicFeature	Osteochondrosis	Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.	MSH:D055034|SNOMEDCT_US:19579005|UMLS:C0029429	hp.json		http://purl.obolibrary.org/obo/HP_0040188							
HP:0040189	biolink:PhenotypicFeature	Scaling skin	Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.	SNOMEDCT_US:14411002|SNOMEDCT_US:271767006|UMLS:C0237849	hp.json	Scaling skin|Scaly skin|flaking skin|peeling skin|Desquamation	http://purl.obolibrary.org/obo/HP_0040189							
HP:0040190	biolink:PhenotypicFeature	White scaling skin		UMLS:C4073146	hp.json	White scaling skin|White scaly skin	http://purl.obolibrary.org/obo/HP_0040190							
HP:0040191	biolink:PhenotypicFeature	Rectus femoris muscle atrophy		UMLS:C2083352	hp.json	Atrophy of the rectus femoris muscles	http://purl.obolibrary.org/obo/HP_0040191							
HP:0040192	biolink:PhenotypicFeature	APUdoma	An endocrine tumor arising from an APUD cell.	MSH:D001079|SNOMEDCT_US:253008000|SNOMEDCT_US:74926005|UMLS:C0003650	hp.json	amine precursor uptake and decarboxylation tumours	http://purl.obolibrary.org/obo/HP_0040192							
HP:0040193	biolink:PhenotypicFeature	obsolete Pinealoblastoma			hp.json		http://purl.obolibrary.org/obo/HP_0040193							
HP:0040194	biolink:PhenotypicFeature	Increased head circumference	An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.	UMLS:C4083076	hp.json	Increased head circumference	http://purl.obolibrary.org/obo/HP_0040194							
HP:0040195	biolink:PhenotypicFeature	Decreased head circumference	An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.	SNOMEDCT_US:271611007|UMLS:C0424688	hp.json	Decreased head circumference	http://purl.obolibrary.org/obo/HP_0040195							
HP:0040196	biolink:PhenotypicFeature	Mild microcephaly	Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).	UMLS:C1836806	hp.json		http://purl.obolibrary.org/obo/HP_0040196							
HP:0040197	biolink:PhenotypicFeature	Encephalomalacia	Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.	MSH:D004678|SNOMEDCT_US:58762006|UMLS:C0014068	hp.json	Cerebral softening	http://purl.obolibrary.org/obo/HP_0040197							
HP:0040198	biolink:PhenotypicFeature	Non-medullary thyroid carcinoma		MSH:C536915|UMLS:C3501843	hp.json	Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary	http://purl.obolibrary.org/obo/HP_0040198							
HP:0040199	biolink:PhenotypicFeature	obsolete Flat midface			hp.json		http://purl.obolibrary.org/obo/HP_0040199							
HP:0040200	biolink:PhenotypicFeature	Motor impersistence	The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.	UMLS:C4073148	hp.json	Negative chorea	http://purl.obolibrary.org/obo/HP_0040200							
HP:0040201	biolink:PhenotypicFeature	Simultanapraxia	A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.	UMLS:C4073149	hp.json		http://purl.obolibrary.org/obo/HP_0040201							
HP:0040202	biolink:PhenotypicFeature	Abnormal consumption behavior		UMLS:C4073150	hp.json	Abnormal consumption behaviour	http://purl.obolibrary.org/obo/HP_0040202							
HP:0040203	biolink:PhenotypicFeature	Abnormal CSF neopterin level	Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).	UMLS:C4073151	hp.json		http://purl.obolibrary.org/obo/HP_0040203							
HP:0040204	biolink:PhenotypicFeature	Elevated CSF neopterin level	Increased concentration of neopterin in the cerebrospinal fluid (CSF).	UMLS:C4073152	hp.json		http://purl.obolibrary.org/obo/HP_0040204							
HP:0040205	biolink:PhenotypicFeature	Decreased CSF neopterin level	Decreased concentration of neopterin in the cerebrospinal fluid (CSF).	UMLS:C4073153	hp.json		http://purl.obolibrary.org/obo/HP_0040205							
HP:0040206	biolink:PhenotypicFeature	Abnormal circulating neopterin concentration	Any deviation from the normal concentration of neopterin in the blood circulation.	UMLS:C4073154	hp.json		http://purl.obolibrary.org/obo/HP_0040206							
HP:0040207	biolink:PhenotypicFeature	Abnormal CSF biopterin level	Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).	UMLS:C4073155	hp.json	Abnormal cerebrospinal fluid biopterin level	http://purl.obolibrary.org/obo/HP_0040207							
HP:0040208	biolink:PhenotypicFeature	Elevated CSF biopterin level	Increased concentration of biopterin in the cerebrospinal fluid (CSF).	UMLS:C4073156	hp.json		http://purl.obolibrary.org/obo/HP_0040208							
HP:0040209	biolink:PhenotypicFeature	Decreased CSF biopterin level	Decreased concentration of biopterin in the cerebrospinal fluid (CSF).	UMLS:C4073157	hp.json	Low CSF BH4 (tetrahydrobiopterin)	http://purl.obolibrary.org/obo/HP_0040209							
HP:0040210	biolink:PhenotypicFeature	Abnormal circulating biopterin concentration	A deviation from the normal concentration of biopterin in the blood circulation.	UMLS:C4073158	hp.json		http://purl.obolibrary.org/obo/HP_0040210							
HP:0040211	biolink:PhenotypicFeature	Abnormal skin morphology of the palm	An abnormality of the skin of the palm, that is, the skin of the front of the hand.	UMLS:C4073159	hp.json		http://purl.obolibrary.org/obo/HP_0040211							
HP:0040212	biolink:PhenotypicFeature	Risus sardonicus	Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.	SNOMEDCT_US:64314006|UMLS:C0343494	hp.json	Rictus grin	http://purl.obolibrary.org/obo/HP_0040212							
HP:0040213	biolink:PhenotypicFeature	Hypopnea	Hypopnea is referring to breathing that is abnormally shallow.	SNOMEDCT_US:386614005|UMLS:C0235546	hp.json		http://purl.obolibrary.org/obo/HP_0040213							
HP:0040214	biolink:PhenotypicFeature	Abnormal insulin level	An abnormal concentration of insulin in the body.	UMLS:C4073160	hp.json		http://purl.obolibrary.org/obo/HP_0040214							
HP:0040215	biolink:PhenotypicFeature	Abnormal circulating insulin level	An abnormal concentration of insulin in the blood.	UMLS:C4073161	hp.json		http://purl.obolibrary.org/obo/HP_0040215							
HP:0040216	biolink:PhenotypicFeature	Hypoinsulinemia	A decreased concentration of insulin in the blood.	UMLS:C2748055	hp.json		http://purl.obolibrary.org/obo/HP_0040216							
HP:0040217	biolink:PhenotypicFeature	Elevated hemoglobin A1c	An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.	UMLS:C4073162	hp.json	Elevated HbA1c|Increased HbA1c levels|Elevated glycated haemoglobin|Elevated glycosylated haemoglobin|Elevated haemoglobin A1c|Elevated glycated hemoglobin|Elevated glycosylated hemoglobin	http://purl.obolibrary.org/obo/HP_0040217							
HP:0040218	biolink:PhenotypicFeature	Reduced natural killer cell count	Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.	UMLS:C1855767	hp.json	Reduced NK cell number|Reduced natural killer cell number	http://purl.obolibrary.org/obo/HP_0040218							
HP:0040219	biolink:PhenotypicFeature	Absent natural killer cells	Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.	UMLS:C4073163	hp.json	Absent NK cells	http://purl.obolibrary.org/obo/HP_0040219							
HP:0040220	biolink:PhenotypicFeature	Abnormal size of the dental root		UMLS:C4280723	hp.json		http://purl.obolibrary.org/obo/HP_0040220							
HP:0040221	biolink:PhenotypicFeature	Hypoplasia of the dental root		UMLS:C4280722	hp.json		http://purl.obolibrary.org/obo/HP_0040221							
HP:0040222	biolink:PhenotypicFeature	Maternal thrombophilia	An increased tendency towards thrombosis in the mother during a pregnancy.	UMLS:C4280721	hp.json		http://purl.obolibrary.org/obo/HP_0040222							
HP:0040223	biolink:PhenotypicFeature	Pulmonary hemorrhage	Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.	UMLS:C4280720	hp.json	Intrapulmonary haemorrhage|Pulmonary haemorrhage|Intrapulmonary hemorrhage	http://purl.obolibrary.org/obo/HP_0040223							
HP:0040224	biolink:PhenotypicFeature	Abnormality of fibrinolysis	Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)	UMLS:C4280719	hp.json	Abnormality of the fibrinolytic system	http://purl.obolibrary.org/obo/HP_0040224							
HP:0040225	biolink:PhenotypicFeature	Decrease in high molecular weight von Willebrand factor Multimers	A decrease in high molecular weight von Willebrand factor multimers.	UMLS:C4280718	hp.json	Decrease in HMW VWF multimers	http://purl.obolibrary.org/obo/HP_0040225							
HP:0040226	biolink:PhenotypicFeature	Decreased level of heparin co-factor II	An abnormality of coagulation related to a decreased concentration of heparin co-factor II	UMLS:C4280717	hp.json	Heparin co-factor II deficiency	http://purl.obolibrary.org/obo/HP_0040226							
HP:0040227	biolink:PhenotypicFeature	Decreased level of histidine-rich glycoprotein	Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation	UMLS:C4280716	hp.json		http://purl.obolibrary.org/obo/HP_0040227							
HP:0040228	biolink:PhenotypicFeature	Decreased level of plasminogen	A decreased level of Plasminogen	UMLS:C4280715	hp.json	Hypoplasminogenemia	http://purl.obolibrary.org/obo/HP_0040228							
HP:0040229	biolink:PhenotypicFeature	Decreased level of thrombomodulin	Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot	UMLS:C4255334	hp.json	BDCA-3	http://purl.obolibrary.org/obo/HP_0040229							
HP:0040230	biolink:PhenotypicFeature	Decreased level of tissue plasminogen activator	The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis	UMLS:C4280714	hp.json	Decreased level of tPA	http://purl.obolibrary.org/obo/HP_0040230							
HP:0040231	biolink:PhenotypicFeature	Abnormal onset of bleeding		UMLS:C4280713	hp.json		http://purl.obolibrary.org/obo/HP_0040231							
HP:0040232	biolink:PhenotypicFeature	Delayed onset bleeding	Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.	UMLS:C4280712	hp.json		http://purl.obolibrary.org/obo/HP_0040232							
HP:0040233	biolink:PhenotypicFeature	Factor XIII subunit A deficiency	Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.	MSH:C567691|UMLS:C2750514	hp.json	Reduced factor XIII, subunit A	http://purl.obolibrary.org/obo/HP_0040233							
HP:0040234	biolink:PhenotypicFeature	Factor XIII subunit B deficiency	Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.	MSH:C567688|UMLS:C2750481	hp.json	Reduced factor XIII, subunit B	http://purl.obolibrary.org/obo/HP_0040234							
HP:0040235	biolink:PhenotypicFeature	Leukocyte inclusion bodies	The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.	UMLS:C4280711	hp.json	Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes	http://purl.obolibrary.org/obo/HP_0040235							
HP:0040236	biolink:PhenotypicFeature	Hyperfibrinolysis	Increased degradation of fibrin, associated with clot instability and bleeding	UMLS:C3805089	hp.json		http://purl.obolibrary.org/obo/HP_0040236							
HP:0040237	biolink:PhenotypicFeature	Impaired binding of factor VIII to VWF	Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.	UMLS:C4280710	hp.json	von Willebrand Disease Type II Normandy	http://purl.obolibrary.org/obo/HP_0040237							
HP:0040238	biolink:PhenotypicFeature	Impaired neutrophil chemotaxis	An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response	UMLS:C4280709	hp.json	Neutrophil migratory defect	http://purl.obolibrary.org/obo/HP_0040238							
HP:0040239	biolink:PhenotypicFeature	Increased plasma vitamin K epoxide after vitamin K supplementation	Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.	UMLS:C4280708	hp.json		http://purl.obolibrary.org/obo/HP_0040239							
HP:0040240	biolink:PhenotypicFeature	Increased ratio of VWF propeptide to VWF antigen	An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.	UMLS:C4280707	hp.json		http://purl.obolibrary.org/obo/HP_0040240							
HP:0040241	biolink:PhenotypicFeature	Increased RIPA	Increased platelet agglutination in response to low-dose ristocetin	UMLS:C4280706	hp.json		http://purl.obolibrary.org/obo/HP_0040241							
HP:0040242	biolink:PhenotypicFeature	Muscle hemorrhage	Bleeding occuring within a muscle	SNOMEDCT_US:95422003|UMLS:C0151702	hp.json	Muscle haemorrhage	http://purl.obolibrary.org/obo/HP_0040242							
HP:0040243	biolink:PhenotypicFeature	Prolonged euglobulin clot lysis time	Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.	UMLS:C4280705	hp.json		http://purl.obolibrary.org/obo/HP_0040243							
HP:0040244	biolink:PhenotypicFeature	Prolonged Russell's viper venom time	Increased time to coagulation in the Russell's viper venom assay	UMLS:C4280704	hp.json		http://purl.obolibrary.org/obo/HP_0040244							
HP:0040245	biolink:PhenotypicFeature	Reduced alpha-2-antiplasmin activity	Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.	UMLS:C4280703	hp.json		http://purl.obolibrary.org/obo/HP_0040245							
HP:0040246	biolink:PhenotypicFeature	Reduced antithrombin antigen	Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.	UMLS:C4280702	hp.json		http://purl.obolibrary.org/obo/HP_0040246							
HP:0040247	biolink:PhenotypicFeature	Reduced euglobulin clot lysis time	Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.	UMLS:C4280701	hp.json		http://purl.obolibrary.org/obo/HP_0040247							
HP:0040248	biolink:PhenotypicFeature	Reduced plasminogen activator inhibitor 1 activity	Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.	UMLS:C4280700	hp.json		http://purl.obolibrary.org/obo/HP_0040248							
HP:0040249	biolink:PhenotypicFeature	Reduced plasminogen activator inhibitor 1 antigen	Reduced level of plasminogen activator inhibitor 1 antigen.	UMLS:C4280699	hp.json		http://purl.obolibrary.org/obo/HP_0040249							
HP:0040250	biolink:PhenotypicFeature	Reduced prothrombin antigen	Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.	UMLS:C4280698	hp.json		http://purl.obolibrary.org/obo/HP_0040250							
HP:0040251	biolink:PhenotypicFeature	Hand dimple	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.	UMLS:C4280697	hp.json	Hand dimples	http://purl.obolibrary.org/obo/HP_0040251							
HP:0040252	biolink:PhenotypicFeature	Abnormal size of the clitoris		UMLS:C4280696	hp.json		http://purl.obolibrary.org/obo/HP_0040252							
HP:0040253	biolink:PhenotypicFeature	Increased size of the clitoris		UMLS:C4280695	hp.json		http://purl.obolibrary.org/obo/HP_0040253							
HP:0040254	biolink:PhenotypicFeature	Decreased size of the clitoris		UMLS:C4280694	hp.json		http://purl.obolibrary.org/obo/HP_0040254							
HP:0040255	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the clitoris		UMLS:C4280693	hp.json		http://purl.obolibrary.org/obo/HP_0040255							
HP:0040256	biolink:PhenotypicFeature	Aplastic/Hypoplastic nasopharyngeal adenoids	Absence or underdevelopment of the nasopharyngeal adenoids.	UMLS:C4280290	hp.json	Adenoids small or absent	http://purl.obolibrary.org/obo/HP_0040256							
HP:0040257	biolink:PhenotypicFeature	Abnormal size of nasopharyngeal adenoids	A deviation in the size of nasopharyngeal adenoids.	UMLS:C4280692	hp.json		http://purl.obolibrary.org/obo/HP_0040257							
HP:0040258	biolink:PhenotypicFeature	Hypoplastic nasopharyngeal adenoids	Underdevelopment of the nasopharyngeal adenoids.	UMLS:C4280691	hp.json	Underdeveloped nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_0040258							
HP:0040259	biolink:PhenotypicFeature	Aplastic nasopharyngeal adenoids	Absence of the nasopharyngeal adenoids as a developmental defect.	UMLS:C4280690	hp.json		http://purl.obolibrary.org/obo/HP_0040259							
HP:0040260	biolink:PhenotypicFeature	Decreased size of nasopharyngeal adenoids	An abnormal decrease in the size of nasopharyngeal adenoids.	UMLS:C4280689	hp.json		http://purl.obolibrary.org/obo/HP_0040260							
HP:0040261	biolink:PhenotypicFeature	Increased size of nasopharyngeal adenoids	An abnormal increase in the size of nasopharyngeal adenoids.	SNOMEDCT_US:111591002|SNOMEDCT_US:276442006|UMLS:C0149825|UMLS:C0455938	hp.json	Adenoid hypertrophy|Adenoids large	http://purl.obolibrary.org/obo/HP_0040261							
HP:0040262	biolink:PhenotypicFeature	Glue ear	Middle ear is filled with glue-like fluid instead of air.	MSH:D010034|SNOMEDCT_US:78868004|UMLS:C0029883	hp.json		http://purl.obolibrary.org/obo/HP_0040262							
HP:0040263	biolink:PhenotypicFeature	Jaw ankylosis		SNOMEDCT_US:285466001|UMLS:C0563350|UMLS:C4280688	hp.json	Difficulty opening mouth	http://purl.obolibrary.org/obo/HP_0040263							
HP:0040264	biolink:PhenotypicFeature	Jaw pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.	SNOMEDCT_US:274667000|UMLS:C0236000	hp.json	Jaw pain	http://purl.obolibrary.org/obo/HP_0040264							
HP:0040265	biolink:PhenotypicFeature	Upper limb muscle hypertrophy		UMLS:C4280687	hp.json		http://purl.obolibrary.org/obo/HP_0040265							
HP:0040266	biolink:PhenotypicFeature	Proximal upper limb muscle hypertrophy		UMLS:C4280686	hp.json		http://purl.obolibrary.org/obo/HP_0040266							
HP:0040267	biolink:PhenotypicFeature	Distal upper limb muscle hypertrophy		UMLS:C4280685	hp.json		http://purl.obolibrary.org/obo/HP_0040267							
HP:0040268	biolink:PhenotypicFeature	Recurrent infections of the middle ear	Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections	UMLS:C0747085	hp.json		http://purl.obolibrary.org/obo/HP_0040268							
HP:0040269	biolink:PhenotypicFeature	Blocked Eustachian tube		SNOMEDCT_US:48145001|UMLS:C0149508	hp.json	Obstruction of Eustachian tube	http://purl.obolibrary.org/obo/HP_0040269							
HP:0040270	biolink:PhenotypicFeature	Impaired glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.	MP:0005291|UMLS:C0151671	hp.json	Decreased glucose tolerance|Glucose tolerance decreased	http://purl.obolibrary.org/obo/HP_0040270							
HP:0040272	biolink:PhenotypicFeature	Hyperintensity of MRI T2 signal of the spinal cord	A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.	UMLS:C4280684	hp.json		http://purl.obolibrary.org/obo/HP_0040272							
HP:0040273	biolink:PhenotypicFeature	Adenocarcinoma of the intestines	A malignant epithelial tumor with a glandular organization that originates in the intestines.	NCIT:C2852|UMLS:C4280683	hp.json		http://purl.obolibrary.org/obo/HP_0040273							
HP:0040274	biolink:PhenotypicFeature	Adenocarcinoma of the small intestine	A malignant epithelial tumor with a glandular organization that originates in the small intestine.	NCIT:C2852|SNOMEDCT_US:424440001|UMLS:C0278803	hp.json		http://purl.obolibrary.org/obo/HP_0040274							
HP:0040275	biolink:PhenotypicFeature	Adenocarcinoma of the large intestine	A malignant epithelial tumor with a glandular organization that originates in the large intestine.	NCIT:C2852|SNOMEDCT_US:408645001|UMLS:C1319315	hp.json		http://purl.obolibrary.org/obo/HP_0040275							
HP:0040276	biolink:PhenotypicFeature	Adenocarcinoma of the colon		NCIT:C2852|UMLS:C0338106	hp.json		http://purl.obolibrary.org/obo/HP_0040276							
HP:0040277	biolink:PhenotypicFeature	Neoplasm of the pituitary gland		NCIT:C3262	hp.json		http://purl.obolibrary.org/obo/HP_0040277							
HP:0040278	biolink:PhenotypicFeature	Prolactinoma	A benign tumor (adenoma) of the pituitary gland		hp.json		http://purl.obolibrary.org/obo/HP_0040278							
HP:0040279	biolink:PhenotypicFeature	Frequency	Class to represent frequency of phenotypic abnormalities within a patient cohort.		hp.json		http://purl.obolibrary.org/obo/HP_0040279							
HP:0040280	biolink:PhenotypicFeature	Obligate	Always present, i.e. in 100% of the cases.	ORPHA:453310	hp.json	Obligate (100%)	http://purl.obolibrary.org/obo/HP_0040280							
HP:0040281	biolink:PhenotypicFeature	Very frequent	Present in 80% to 99% of the cases.	ORPHA:453311	hp.json	Very frequent (99-80%)	http://purl.obolibrary.org/obo/HP_0040281							
HP:0040282	biolink:PhenotypicFeature	Frequent	Present in 30% to 79% of the cases.	ORPHA:453312	hp.json	Frequent (79-30%)	http://purl.obolibrary.org/obo/HP_0040282							
HP:0040283	biolink:PhenotypicFeature	Occasional	Present in 5% to 29% of the cases.	ORPHA:453313	hp.json	Occasional (29-5%)	http://purl.obolibrary.org/obo/HP_0040283							
HP:0040284	biolink:PhenotypicFeature	Very rare	Present in 1% to 4% of the cases.	ORPHA:453314	hp.json	Very rare (&lt;4-1%)|Very rare (<4-1%)	http://purl.obolibrary.org/obo/HP_0040284							
HP:0040285	biolink:PhenotypicFeature	Excluded	Present in 0% of the cases.	ORPHA:453315	hp.json	Excluded (0%)	http://purl.obolibrary.org/obo/HP_0040285							
HP:0040286	biolink:PhenotypicFeature	Abnormal axial muscle morphology	A structural anomaly of the muscles of the trunk and head.		hp.json	Abnormality of axial muscles	http://purl.obolibrary.org/obo/HP_0040286							
HP:0040287	biolink:PhenotypicFeature	Axial muscle atrophy			hp.json		http://purl.obolibrary.org/obo/HP_0040287							
HP:0040288	biolink:PhenotypicFeature	Nasogastric tube feeding	The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.		hp.json		http://purl.obolibrary.org/obo/HP_0040288							
HP:0040289	biolink:PhenotypicFeature	Cyclic neutropenia	Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).		hp.json	CyN	http://purl.obolibrary.org/obo/HP_0040289							
HP:0040290	biolink:PhenotypicFeature	obsolete Abnormality of skeletal muscles			hp.json		http://purl.obolibrary.org/obo/HP_0040290							
HP:0040291	biolink:PhenotypicFeature	Skeletal muscle steatosis			hp.json	Steatosis of skeletal muscle|Steatosis of skeletal muscles	http://purl.obolibrary.org/obo/HP_0040291							
HP:0040292	biolink:PhenotypicFeature	Left hemiplegia			hp.json	Hemiplegia (left)	http://purl.obolibrary.org/obo/HP_0040292							
HP:0040293	biolink:PhenotypicFeature	Right hemiplegia			hp.json	Hemiplegia (right)	http://purl.obolibrary.org/obo/HP_0040293							
HP:0040294	biolink:PhenotypicFeature	Duplicated tongue			hp.json	Duplication of tongue|Tongue duplicated|Tongue duplication	http://purl.obolibrary.org/obo/HP_0040294							
HP:0040295	biolink:PhenotypicFeature	Duplication of the upper lip			hp.json	Double upper lip	http://purl.obolibrary.org/obo/HP_0040295							
HP:0040296	biolink:PhenotypicFeature	Abnormal location of the eyebrow			hp.json	Abnormal location of eyebrows|Abnormally placed eyebrows	http://purl.obolibrary.org/obo/HP_0040296							
HP:0040297	biolink:PhenotypicFeature	Preauricular cyst	Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.		hp.json		http://purl.obolibrary.org/obo/HP_0040297							
HP:0040298	biolink:PhenotypicFeature	Hyperplasia of the endometrium			hp.json	Hyperplastic endometrium	http://purl.obolibrary.org/obo/HP_0040298							
HP:0040299	biolink:PhenotypicFeature	Decreased circulating free fatty acid level			hp.json	Low fatty acids level	http://purl.obolibrary.org/obo/HP_0040299							
HP:0040300	biolink:PhenotypicFeature	Abnormal circulating free fatty acid concentration	Any deviation from the normal concentration of a free fatty acid in the blood circulation.		hp.json	Abnormal circulating free fatty acid level	http://purl.obolibrary.org/obo/HP_0040300							
HP:0040301	biolink:PhenotypicFeature	Increased urinary glycerol	An increased concentration of glycerol in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0040301							
HP:0040302	biolink:PhenotypicFeature	Hyperglycerolemia	Increased concentration of glycerol in the blood.		hp.json	Pseudohypertriglyceridemia	http://purl.obolibrary.org/obo/HP_0040302							
HP:0040303	biolink:PhenotypicFeature	Decreased serum iron			hp.json	Low serum iron	http://purl.obolibrary.org/obo/HP_0040303							
HP:0040304	biolink:PhenotypicFeature	Duplication of the sella turcica			hp.json	Duplicate sella turcica|Duplicated sella turcica	http://purl.obolibrary.org/obo/HP_0040304							
HP:0040305	biolink:PhenotypicFeature	Increased male libido	Increased desire for sexual activity on the part of a male.		hp.json		http://purl.obolibrary.org/obo/HP_0040305							
HP:0040306	biolink:PhenotypicFeature	Decreased male libido	Reduced desire for sexual activity on the part of a male.		hp.json		http://purl.obolibrary.org/obo/HP_0040306							
HP:0040307	biolink:PhenotypicFeature	Male sexual dysfunction	A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity		hp.json		http://purl.obolibrary.org/obo/HP_0040307							
HP:0040308	biolink:PhenotypicFeature	Male anorgasmia	Inability of a male to reach orgasm.		hp.json		http://purl.obolibrary.org/obo/HP_0040308							
HP:0040309	biolink:PhenotypicFeature	Increased size of the mandible			hp.json	Large jaw	http://purl.obolibrary.org/obo/HP_0040309							
HP:0040310	biolink:PhenotypicFeature	Sterile arthritis	An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.		hp.json		http://purl.obolibrary.org/obo/HP_0040310							
HP:0040311	biolink:PhenotypicFeature	Symmetric polyarthritis	Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.		hp.json		http://purl.obolibrary.org/obo/HP_0040311							
HP:0040312	biolink:PhenotypicFeature	Temporomandibular arthritis			hp.json	Arthritis of temporomandibular joint	http://purl.obolibrary.org/obo/HP_0040312							
HP:0040313	biolink:PhenotypicFeature	Oligoarthritis	A type of arthritis that affects up to four joints in the first six months of disease.		hp.json		http://purl.obolibrary.org/obo/HP_0040313							
HP:0040314	biolink:PhenotypicFeature	Blind vagina	The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.		hp.json	Blind-ended vagina	http://purl.obolibrary.org/obo/HP_0040314							
HP:0040315	biolink:PhenotypicFeature	Tongue edema	An abnormal accumulation of fluid and swelling in the tongue.		hp.json	Tongue oedema	http://purl.obolibrary.org/obo/HP_0040315							
HP:0040316	biolink:PhenotypicFeature	obsolete Aplasia of the penis			hp.json		http://purl.obolibrary.org/obo/HP_0040316							
HP:0040317	biolink:PhenotypicFeature	Blue urine	An abnormal blue color of the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0040317							
HP:0040318	biolink:PhenotypicFeature	Red urine	An abnormal red color of the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0040318							
HP:0040319	biolink:PhenotypicFeature	Dark urine	An abnormal dark color of the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0040319							
HP:0040320	biolink:PhenotypicFeature	Red-brown urine	An abnormal red-brown color of the urine.		hp.json	red brown urine	http://purl.obolibrary.org/obo/HP_0040320							
HP:0040321	biolink:PhenotypicFeature	Dark yellow urine	An abnormal dark-yellow color of the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0040321							
HP:0040322	biolink:PhenotypicFeature	Purple urine	An abnormal purple color of the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0040322							
HP:0040323	biolink:PhenotypicFeature	Erythema of the eyelids	Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.		hp.json	Erythema of eyelid|Eyelid erythema	http://purl.obolibrary.org/obo/HP_0040323							
HP:0040324	biolink:PhenotypicFeature	Heliotrope rash	In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.		hp.json	Heliotrope erythema	http://purl.obolibrary.org/obo/HP_0040324							
HP:0040325	biolink:PhenotypicFeature	Bull's eye rash	A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.		hp.json		http://purl.obolibrary.org/obo/HP_0040325							
HP:0040326	biolink:PhenotypicFeature	Hypoplasia of the olfactory bulb	Underdevelopment of the olfactory bulb.		hp.json	Hypoplasia of olfactory bulb|Hypoplastic olfactory bulb	http://purl.obolibrary.org/obo/HP_0040326							
HP:0040327	biolink:PhenotypicFeature	Abnormal morphology of the olfactory bulb	An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.		hp.json		http://purl.obolibrary.org/obo/HP_0040327							
HP:0040328	biolink:PhenotypicFeature	Focal hyperintensity of cerebral white matter on MRI	An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.		hp.json		http://purl.obolibrary.org/obo/HP_0040328							
HP:0040329	biolink:PhenotypicFeature	Multifocal hyperintensity of cerebral white matter on MRI	An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.		hp.json		http://purl.obolibrary.org/obo/HP_0040329							
HP:0040330	biolink:PhenotypicFeature	Confluent hyperintensity of cerebral white matter on MRI	Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.		hp.json		http://purl.obolibrary.org/obo/HP_0040330							
HP:0040331	biolink:PhenotypicFeature	Focal hypointensity of cerebral white matter on MRI			hp.json		http://purl.obolibrary.org/obo/HP_0040331							
HP:0040332	biolink:PhenotypicFeature	Multifocal hypointensity of cerebral white matter on MRI			hp.json		http://purl.obolibrary.org/obo/HP_0040332							
HP:0040333	biolink:PhenotypicFeature	Confluent hypointensity of cerebral white matter on MRI			hp.json		http://purl.obolibrary.org/obo/HP_0040333							
HP:0040334	biolink:PhenotypicFeature	Purulent rhinitis	Chronic rhinitis accompanied by pus formation.		hp.json		http://purl.obolibrary.org/obo/HP_0040334							
HP:0041042	biolink:PhenotypicFeature	Absent neutrophil lactoferrin	The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.		hp.json		http://purl.obolibrary.org/obo/HP_0041042							
HP:0041043	biolink:PhenotypicFeature	Neutrophil nuclear clefts	An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.		hp.json		http://purl.obolibrary.org/obo/HP_0041043							
HP:0041044	biolink:PhenotypicFeature	Low neutrophil alkaline phosphatase	An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.		hp.json		http://purl.obolibrary.org/obo/HP_0041044							
HP:0041045	biolink:PhenotypicFeature	Increased neutrophil mitochondria	An increased number of mitochondria detected in neutrophils.		hp.json		http://purl.obolibrary.org/obo/HP_0041045							
HP:0041046	biolink:PhenotypicFeature	Increased neutrophil ribosomes	An increased number of ribosomes detected in neutrophils.		hp.json		http://purl.obolibrary.org/obo/HP_0041046							
HP:0041047	biolink:PhenotypicFeature	Bladder outlet obstruction	A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).		hp.json	Obstruction of bladder outlet	http://purl.obolibrary.org/obo/HP_0041047							
HP:0041048	biolink:PhenotypicFeature	Decreased expression of GPI-anchored proteins on the cell surface	A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.		hp.json		http://purl.obolibrary.org/obo/HP_0041048							
HP:0041049	biolink:PhenotypicFeature	Starch intolerance	An inability to digest starch.		hp.json	Starch intolerance|Amylose-amylopectin intolerance	http://purl.obolibrary.org/obo/HP_0041049							
HP:0041050	biolink:PhenotypicFeature	Renal tubular cyst	Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.		hp.json	Renal tubule cyst	http://purl.obolibrary.org/obo/HP_0041050							
HP:0041051	biolink:PhenotypicFeature	Ageusia	A rare condition that is characterized by a complete loss of taste function of the tongue.		hp.json	Lost taste|Absent sense of taste|Impaired taste sensation	http://purl.obolibrary.org/obo/HP_0041051							
HP:0041052	biolink:PhenotypicFeature	Agenesis of putamen	A developmental defect characterized by the absence of the putamen owing to its failure to develop.		hp.json		http://purl.obolibrary.org/obo/HP_0041052							
HP:0041053	biolink:PhenotypicFeature	Fractured head	A partial or complete breakage of the head.		hp.json	bone head	http://purl.obolibrary.org/obo/HP_0041053							
HP:0041054	biolink:PhenotypicFeature	obsolete Fractured thoracic segment of trunk			hp.json		http://purl.obolibrary.org/obo/HP_0041054							
HP:0041055	biolink:PhenotypicFeature	Fractured humerus	A partial or complete breakage of the humerus.		hp.json	Broken humerus|Fracture of the humerus|Humeral fracture|Humerus fracture|bone humerus	http://purl.obolibrary.org/obo/HP_0041055							
HP:0041056	biolink:PhenotypicFeature	Hot cross bun sign	A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).		hp.json		http://purl.obolibrary.org/obo/HP_0041056							
HP:0041057	biolink:PhenotypicFeature	Transient decreased circulating IgG4	A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.		hp.json	Transient decreased IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041057							
HP:0041058	biolink:PhenotypicFeature	Chronic decreased circulating IgG4	A lasting decrease of immunoglobulin G4 (IgG4) in the blood.		hp.json	Chronic decreased IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041058							
HP:0041059	biolink:PhenotypicFeature	Chronic (near) absent circulating IgG4	A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.		hp.json	Chronic (near) absent IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041059							
HP:0041060	biolink:PhenotypicFeature	Chronic partially decreased circulating IgG4	A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.		hp.json	Chronic partially decreased IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041060							
HP:0041061	biolink:PhenotypicFeature	Fractured calcaneus	A partial or complete breakage of the calcaneus.		hp.json	bone calcaneus	http://purl.obolibrary.org/obo/HP_0041061							
HP:0041062	biolink:PhenotypicFeature	Transient decreased circulating IgG2	A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.		hp.json	Transient decreased IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041062							
HP:0041063	biolink:PhenotypicFeature	Chronic decreased cirulating IgG2	A lasting decrease of immunoglobulin G2 (IgG2) in the blood.		hp.json	Chronic decreased IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041063							
HP:0041064	biolink:PhenotypicFeature	Fractured knee	A partial or complete breakage of the knee.		hp.json	bone knee	http://purl.obolibrary.org/obo/HP_0041064							
HP:0041065	biolink:PhenotypicFeature	Chronic (near) absent circulating IgG2	A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.		hp.json	Chronic (near) absent IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041065							
HP:0041066	biolink:PhenotypicFeature	Chronic partially decreased circulating IgG2	A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.		hp.json	Chronic partially decreased IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041066							
HP:0041067	biolink:PhenotypicFeature	Transient decreased circulating IgG1	A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.		hp.json	Transient decreased IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041067							
HP:0041068	biolink:PhenotypicFeature	Chronic decreased circulating IgG1	A lasting decrease of immunoglobulin G1 (IgG1) in the blood.		hp.json	Chronic decreased IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041068							
HP:0041069	biolink:PhenotypicFeature	Chronic (near) absent circulating IgG1	A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.		hp.json	Chronic (near) absent IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041069							
HP:0041070	biolink:PhenotypicFeature	Chronic partially decreased circulating IgG1	A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.		hp.json	Chronic partially decreased IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041070							
HP:0041071	biolink:PhenotypicFeature	Transient decreased circulating IgG3	A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.		hp.json	Transient decreased IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041071							
HP:0041072	biolink:PhenotypicFeature	Chronic decreased circulating IgG3	A lasting decrease of immunoglobulin G3 (IgG3) in the blood.		hp.json	Chronic decreased IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041072							
HP:0041073	biolink:PhenotypicFeature	Fractured thoracic vertebra	A partial or complete breakage of the thoracic vertebra.		hp.json	bone thoracic vertebra	http://purl.obolibrary.org/obo/HP_0041073							
HP:0041074	biolink:PhenotypicFeature	Chronic (near) absent circulating IgG3	A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.		hp.json	Chronic (near) absent IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041074							
HP:0041075	biolink:PhenotypicFeature	Chronic partially decreased circulating IgG3	A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.		hp.json	Chronic partially decreased IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041075							
HP:0041076	biolink:PhenotypicFeature	Abnormal immunoglobulin level in body fluid	An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.		hp.json		http://purl.obolibrary.org/obo/HP_0041076							
HP:0041077	biolink:PhenotypicFeature	Increased immunoglobulin level in body fluid	An elevation from normal levels of immunoglobulins in body fluids, such as mucous.		hp.json		http://purl.obolibrary.org/obo/HP_0041077							
HP:0041078	biolink:PhenotypicFeature	Decreased immunoglobulin level in body fluid	An reduction from normal levels of immunoglobulins in body fluids, such as mucous.		hp.json		http://purl.obolibrary.org/obo/HP_0041078							
HP:0041079	biolink:PhenotypicFeature	Decreased body fat percentage	The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.		hp.json	Decreased adipose tissue percentage	http://purl.obolibrary.org/obo/HP_0041079							
HP:0041080	biolink:PhenotypicFeature	Abnormal proportion of exhausted T cells	A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0041080							
HP:0041081	biolink:PhenotypicFeature	Fractured lower leg	Bone fracture anywhere in the tibia, fibula, or ankle.		hp.json	Fracture of the lower leg|Lower extremity fracture|Lower limb fracture	http://purl.obolibrary.org/obo/HP_0041081							
HP:0041082	biolink:PhenotypicFeature	Fractured skull	A partial or complete breakage of the skull.		hp.json	bone skull	http://purl.obolibrary.org/obo/HP_0041082							
HP:0041083	biolink:PhenotypicFeature	Fractured phalanx	A partial or complete breakage of the phalanx.		hp.json	bone phalanx	http://purl.obolibrary.org/obo/HP_0041083							
HP:0041084	biolink:PhenotypicFeature	Compression-fractured thoracic vertebra	A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.		hp.json	Compression fractured thoracic vertebra|Wedge fractured thoracic vertebra	http://purl.obolibrary.org/obo/HP_0041084							
HP:0041085	biolink:PhenotypicFeature	Compression-fractured vertebra	A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.		hp.json	Compression fractured vertebra|Wedge fractured vertebra	http://purl.obolibrary.org/obo/HP_0041085							
HP:0041086	biolink:PhenotypicFeature	Compression-fractured cervical vertebra	A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.		hp.json	Compression fractured cervical vertebra|Wedge fractured cervical vertebra	http://purl.obolibrary.org/obo/HP_0041086							
HP:0041087	biolink:PhenotypicFeature	Compression-fractured lumbar vertebra	A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.		hp.json	Compression fractured lumbar vertebra|Wedge fractured lumbar vertebra	http://purl.obolibrary.org/obo/HP_0041087							
HP:0041088	biolink:PhenotypicFeature	Avulsion fractured humerus	A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.		hp.json		http://purl.obolibrary.org/obo/HP_0041088							
HP:0041089	biolink:PhenotypicFeature	Avulsion fractured tibia	A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.		hp.json		http://purl.obolibrary.org/obo/HP_0041089							
HP:0041090	biolink:PhenotypicFeature	obsolete Avulsion fractured pelvic region of trunk			hp.json		http://purl.obolibrary.org/obo/HP_0041090							
HP:0041091	biolink:PhenotypicFeature	Avulsion fractured epiphysis of femur	A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.		hp.json		http://purl.obolibrary.org/obo/HP_0041091							
HP:0041092	biolink:PhenotypicFeature	Emotional hypersensitivity	Heightened emotional reactivity to environmental stimuli, including emotions of others.		hp.json	Highly sensitive|Hypersensitivity|Overly sensitive	http://purl.obolibrary.org/obo/HP_0041092							
HP:0041093	biolink:PhenotypicFeature	Beau's lines	A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.		hp.json	Beau lines|Ladder nail|Ladder nail sign	http://purl.obolibrary.org/obo/HP_0041093							
HP:0041114	biolink:PhenotypicFeature	Fractured metaphysis of femur	A partial or complete breakage of the metaphysis of femur.		hp.json	bone metaphysis of femur	http://purl.obolibrary.org/obo/HP_0041114							
HP:0041115	biolink:PhenotypicFeature	Fractured right clavicle	A partial or complete breakage of the right clavicle.		hp.json	bone right clavicle	http://purl.obolibrary.org/obo/HP_0041115							
HP:0041116	biolink:PhenotypicFeature	Fractured left clavicle	A partial or complete breakage of the left clavicle.		hp.json	bone left clavicle	http://purl.obolibrary.org/obo/HP_0041116							
HP:0041117	biolink:PhenotypicFeature	Fractured lower limb segment	A partial or complete breakage of the lower limb segment.		hp.json	bone lower limb segment	http://purl.obolibrary.org/obo/HP_0041117							
HP:0041118	biolink:PhenotypicFeature	Fractured upper limb segment	A partial or complete breakage of the upper limb segment.		hp.json	bone upper limb segment	http://purl.obolibrary.org/obo/HP_0041118							
HP:0041119	biolink:PhenotypicFeature	Fractured metacarpus skeleton	A partial or complete breakage of the metacarpus skeleton.		hp.json	bone metacarpus skeleton	http://purl.obolibrary.org/obo/HP_0041119							
HP:0041121	biolink:PhenotypicFeature	Fractured epiphysis of fifth metacarpal bone	A partial or complete breakage of the epiphysis of fifth metacarpal bone.		hp.json	bone epiphysis of fifth metacarpal bone	http://purl.obolibrary.org/obo/HP_0041121							
HP:0041143	biolink:PhenotypicFeature	Fractured tibia	A partial or complete breakage of the tibia.		hp.json	Broken tibia|Fracture of the tibia|Tibial fracture|bone tibia	http://purl.obolibrary.org/obo/HP_0041143							
HP:0041144	biolink:PhenotypicFeature	Fractured clavicle bone	A partial or complete breakage of the clavicle bone.		hp.json	bone clavicle bone	http://purl.obolibrary.org/obo/HP_0041144							
HP:0041145	biolink:PhenotypicFeature	Fractured acetabular part of hip bone	A partial or complete breakage of the acetabular part of hip bone.		hp.json	bone acetabular part of hip bone	http://purl.obolibrary.org/obo/HP_0041145							
HP:0041146	biolink:PhenotypicFeature	Fractured coccyx	A partial or complete breakage of the coccyx.		hp.json	bone coccyx	http://purl.obolibrary.org/obo/HP_0041146							
HP:0041147	biolink:PhenotypicFeature	Fractured epiphysis	A partial or complete breakage of the epiphysis.		hp.json	bone epiphysis	http://purl.obolibrary.org/obo/HP_0041147							
HP:0041149	biolink:PhenotypicFeature	Fractured navicular bone of pes	A partial or complete breakage of the navicular bone of pes.		hp.json	bone navicular bone of pes	http://purl.obolibrary.org/obo/HP_0041149							
HP:0041150	biolink:PhenotypicFeature	Fractured cuboid bone	A partial or complete breakage of the cuboid bone.		hp.json	bone cuboid bone	http://purl.obolibrary.org/obo/HP_0041150							
HP:0041152	biolink:PhenotypicFeature	Fractured sternoclavicular joint	A partial or complete breakage of the sternoclavicular joint.		hp.json	bone sternoclavicular joint	http://purl.obolibrary.org/obo/HP_0041152							
HP:0041153	biolink:PhenotypicFeature	Fractured ankle	A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).		hp.json	bone ankle joint	http://purl.obolibrary.org/obo/HP_0041153							
HP:0041154	biolink:PhenotypicFeature	Fractured elbow joint	A partial or complete breakage of the elbow joint.		hp.json	bone elbow joint	http://purl.obolibrary.org/obo/HP_0041154							
HP:0041155	biolink:PhenotypicFeature	Fractured mandible	A partial or complete breakage of the mandible.		hp.json	bone mandible	http://purl.obolibrary.org/obo/HP_0041155							
HP:0041156	biolink:PhenotypicFeature	Fractured orbit of skull	A partial or complete breakage of the orbit of skull.		hp.json	bone orbit of skull	http://purl.obolibrary.org/obo/HP_0041156							
HP:0041157	biolink:PhenotypicFeature	Fractured larynx	A partial or complete breakage of the larynx.		hp.json	bone larynx	http://purl.obolibrary.org/obo/HP_0041157							
HP:0041158	biolink:PhenotypicFeature	obsolete Fractured trunk			hp.json		http://purl.obolibrary.org/obo/HP_0041158							
HP:0041159	biolink:PhenotypicFeature	Fractured rib	A partial or complete breakage of the rib.		hp.json	bone rib	http://purl.obolibrary.org/obo/HP_0041159							
HP:0041161	biolink:PhenotypicFeature	obsolete Fractured pelvic region of trunk			hp.json		http://purl.obolibrary.org/obo/HP_0041161							
HP:0041162	biolink:PhenotypicFeature	Fractured foot bone	A partial or complete breakage of the foot bone, such as the metatarsal or toe.		hp.json	Broken foot|Fractured pes|bone pes|Metatarsal fracture	http://purl.obolibrary.org/obo/HP_0041162							
HP:0041163	biolink:PhenotypicFeature	Fractured manual digit	A partial or complete breakage of the manual digit.		hp.json	bone manual digit	http://purl.obolibrary.org/obo/HP_0041163							
HP:0041164	biolink:PhenotypicFeature	Fractured talus	A partial or complete breakage of the talus.		hp.json	bone talus	http://purl.obolibrary.org/obo/HP_0041164							
HP:0041165	biolink:PhenotypicFeature	Fractured maxilla	A partial or complete breakage of the maxilla.		hp.json	bone maxilla	http://purl.obolibrary.org/obo/HP_0041165							
HP:0041166	biolink:PhenotypicFeature	Fractured vertebra	A partial or complete breakage of the vertebra.		hp.json	bone vertebra	http://purl.obolibrary.org/obo/HP_0041166							
HP:0041167	biolink:PhenotypicFeature	Fractured cervical vertebra	A partial or complete breakage of the cervical vertebra.		hp.json	bone cervical vertebra	http://purl.obolibrary.org/obo/HP_0041167							
HP:0041168	biolink:PhenotypicFeature	Fractured lumbar vertebra	A partial or complete breakage of the lumbar vertebra.		hp.json	bone lumbar vertebra	http://purl.obolibrary.org/obo/HP_0041168							
HP:0041172	biolink:PhenotypicFeature	Fractured fused sacrum	A partial or complete breakage of the fused sacrum.		hp.json	bone fused sacrum	http://purl.obolibrary.org/obo/HP_0041172							
HP:0041173	biolink:PhenotypicFeature	Fractured metacarpophalangeal joint	A partial or complete breakage of the metacarpophalangeal joint.		hp.json	bone metacarpophalangeal joint	http://purl.obolibrary.org/obo/HP_0041173							
HP:0041174	biolink:PhenotypicFeature	Fractured distal phalanx of manus	A partial or complete breakage of the distal phalanx of manus.		hp.json	bone distal phalanx of manus	http://purl.obolibrary.org/obo/HP_0041174							
HP:0041175	biolink:PhenotypicFeature	Fractured middle phalanx of pes	A partial or complete breakage of the middle phalanx of pes.		hp.json	bone middle phalanx of pes	http://purl.obolibrary.org/obo/HP_0041175							
HP:0041176	biolink:PhenotypicFeature	Fractured distal phalanx of manual digit 2	A partial or complete breakage of the distal phalanx of manual digit 2.		hp.json	bone distal phalanx of manual digit 2	http://purl.obolibrary.org/obo/HP_0041176							
HP:0041177	biolink:PhenotypicFeature	Fractured distal phalanx of manual digit 3	A partial or complete breakage of the distal phalanx of manual digit 3.		hp.json	bone distal phalanx of manual digit 3	http://purl.obolibrary.org/obo/HP_0041177							
HP:0041178	biolink:PhenotypicFeature	Fractured distal phalanx of manual digit 4	A partial or complete breakage of the distal phalanx of manual digit 4.		hp.json	bone distal phalanx of manual digit 4	http://purl.obolibrary.org/obo/HP_0041178							
HP:0041179	biolink:PhenotypicFeature	Fractured distal phalanx of manual digit 5	A partial or complete breakage of the distal phalanx of manual digit 5.		hp.json	bone distal phalanx of manual digit 5	http://purl.obolibrary.org/obo/HP_0041179							
HP:0041180	biolink:PhenotypicFeature	Fractured distal phalanx of pedal digit 1	A partial or complete breakage of the distal phalanx of pedal digit 1.		hp.json	bone distal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/HP_0041180							
HP:0041181	biolink:PhenotypicFeature	Fractured distal phalanx of pedal digit 3	A partial or complete breakage of the distal phalanx of pedal digit 3.		hp.json	bone distal phalanx of pedal digit 3	http://purl.obolibrary.org/obo/HP_0041181							
HP:0041182	biolink:PhenotypicFeature	Fractured middle phalanx of manual digit 2	A partial or complete breakage of the middle phalanx of manual digit 2.		hp.json	bone middle phalanx of manual digit 2	http://purl.obolibrary.org/obo/HP_0041182							
HP:0041183	biolink:PhenotypicFeature	Fractured middle phalanx of manual digit 3	A partial or complete breakage of the middle phalanx of manual digit 3.		hp.json	bone middle phalanx of manual digit 3	http://purl.obolibrary.org/obo/HP_0041183							
HP:0041184	biolink:PhenotypicFeature	Fractured middle phalanx of manual digit 4	A partial or complete breakage of the middle phalanx of manual digit 4.		hp.json	bone middle phalanx of manual digit 4	http://purl.obolibrary.org/obo/HP_0041184							
HP:0041185	biolink:PhenotypicFeature	Fractured middle phalanx of manual digit 5	A partial or complete breakage of the middle phalanx of manual digit 5.		hp.json	bone middle phalanx of manual digit 5	http://purl.obolibrary.org/obo/HP_0041185							
HP:0041186	biolink:PhenotypicFeature	Fractured middle phalanx of pedal digit 3	A partial or complete breakage of the middle phalanx of pedal digit 3.		hp.json	bone middle phalanx of pedal digit 3	http://purl.obolibrary.org/obo/HP_0041186							
HP:0041187	biolink:PhenotypicFeature	Fractured proximal phalanx of pedal digit 1	A partial or complete breakage of the proximal phalanx of pedal digit 1.		hp.json	bone proximal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/HP_0041187							
HP:0041188	biolink:PhenotypicFeature	Fractured proximal phalanx of manual digit 1	A partial or complete breakage of the proximal phalanx of manual digit 1.		hp.json	bone proximal phalanx of manual digit 1	http://purl.obolibrary.org/obo/HP_0041188							
HP:0041189	biolink:PhenotypicFeature	Fractured epiphysis of femur	A partial or complete breakage of the epiphysis of femur.		hp.json	bone epiphysis of femur	http://purl.obolibrary.org/obo/HP_0041189							
HP:0041190	biolink:PhenotypicFeature	Fractured epiphysis of second metacarpal bone	A partial or complete breakage of the epiphysis of second metacarpal bone.		hp.json	bone epiphysis of second metacarpal bone	http://purl.obolibrary.org/obo/HP_0041190							
HP:0041191	biolink:PhenotypicFeature	Fractured epiphysis of third metacarpal bone	A partial or complete breakage of the epiphysis of third metacarpal bone.		hp.json	bone epiphysis of third metacarpal bone	http://purl.obolibrary.org/obo/HP_0041191							
HP:0041192	biolink:PhenotypicFeature	Fractured epiphysis of fourth metacarpal bone	A partial or complete breakage of the epiphysis of fourth metacarpal bone.		hp.json	bone epiphysis of fourth metacarpal bone	http://purl.obolibrary.org/obo/HP_0041192							
HP:0041193	biolink:PhenotypicFeature	Fractured epiphysis of first metatarsal bone	A partial or complete breakage of the epiphysis of first metatarsal bone.		hp.json	bone epiphysis of first metatarsal bone	http://purl.obolibrary.org/obo/HP_0041193							
HP:0041194	biolink:PhenotypicFeature	Fractured epiphysis of second metatarsal bone	A partial or complete breakage of the epiphysis of second metatarsal bone.		hp.json	bone epiphysis of second metatarsal bone	http://purl.obolibrary.org/obo/HP_0041194							
HP:0041195	biolink:PhenotypicFeature	Fractured epiphysis of third metatarsal bone	A partial or complete breakage of the epiphysis of third metatarsal bone.		hp.json	bone epiphysis of third metatarsal bone	http://purl.obolibrary.org/obo/HP_0041195							
HP:0041196	biolink:PhenotypicFeature	Fractured distal epiphysis of radius	A partial or complete breakage of the distal epiphysis of radius.		hp.json	bone distal epiphysis of radius	http://purl.obolibrary.org/obo/HP_0041196							
HP:0041197	biolink:PhenotypicFeature	Fractured proximal epiphysis of first metacarpal bone	A partial or complete breakage of the proximal epiphysis of first metacarpal bone.		hp.json	bone proximal epiphysis of first metacarpal bone	http://purl.obolibrary.org/obo/HP_0041197							
HP:0041198	biolink:PhenotypicFeature	Fractured proximal epiphysis of middle phalanx of manual digit 3	A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.		hp.json	bone proximal epiphysis of middle phalanx of manual digit 3	http://purl.obolibrary.org/obo/HP_0041198							
HP:0041199	biolink:PhenotypicFeature	Fractured interphalangeal joint	A partial or complete breakage of the interphalangeal joint.		hp.json	bone interphalangeal joint	http://purl.obolibrary.org/obo/HP_0041199							
HP:0041200	biolink:PhenotypicFeature	Fractured sternal end of clavicle	A partial or complete breakage of the sternal end of clavicle.		hp.json	bone sternal end of clavicle	http://purl.obolibrary.org/obo/HP_0041200							
HP:0041209	biolink:PhenotypicFeature	Fractured epiphysis of middle phalanx of manus	A partial or complete breakage of the epiphysis of middle phalanx of manus.		hp.json	bone epiphysis of middle phalanx of manus	http://purl.obolibrary.org/obo/HP_0041209							
HP:0041210	biolink:PhenotypicFeature	Fractured lateral malleolus of fibula	A partial or complete breakage of the lateral malleolus of fibula.		hp.json	bone lateral malleolus of fibula	http://purl.obolibrary.org/obo/HP_0041210							
HP:0041211	biolink:PhenotypicFeature	Fractured proximal phalanx of digit 2	A partial or complete breakage of the proximal phalanx of digit 2.		hp.json	bone proximal phalanx of digit 2	http://purl.obolibrary.org/obo/HP_0041211							
HP:0041212	biolink:PhenotypicFeature	Fractured proximal phalanx of digit 3	A partial or complete breakage of the proximal phalanx of digit 3.		hp.json	bone proximal phalanx of digit 3	http://purl.obolibrary.org/obo/HP_0041212							
HP:0041213	biolink:PhenotypicFeature	Fractured proximal phalanx of digit 4	A partial or complete breakage of the proximal phalanx of digit 4.		hp.json	bone proximal phalanx of digit 4	http://purl.obolibrary.org/obo/HP_0041213							
HP:0041214	biolink:PhenotypicFeature	Fractured proximal phalanx of digit 5	A partial or complete breakage of the proximal phalanx of digit 5.		hp.json	bone proximal phalanx of digit 5	http://purl.obolibrary.org/obo/HP_0041214							
HP:0041215	biolink:PhenotypicFeature	Fractured fused metatarsal bones 2-4	A partial or complete breakage of the fused metatarsal bones 2-4.		hp.json	bone fused metatarsal bones 2-4	http://purl.obolibrary.org/obo/HP_0041215							
HP:0041216	biolink:PhenotypicFeature	Fractured distal epiphysis of distal phalanx of manual digit 1	A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.		hp.json	bone distal epiphysis of distal phalanx of manual digit 1	http://purl.obolibrary.org/obo/HP_0041216							
HP:0041217	biolink:PhenotypicFeature	Fractured shoulder	A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.		hp.json	bone shoulder joint	http://purl.obolibrary.org/obo/HP_0041217							
HP:0041218	biolink:PhenotypicFeature	Fractured distal phalanx	A partial or complete breakage of the distal phalanx.		hp.json	bone distal phalanx	http://purl.obolibrary.org/obo/HP_0041218							
HP:0041219	biolink:PhenotypicFeature	Fractured elbow	A partial or complete breakage of the elbow.		hp.json	bone elbow	http://purl.obolibrary.org/obo/HP_0041219							
HP:0041220	biolink:PhenotypicFeature	Fractured facial bone	A partial or complete breakage of the facial bone.		hp.json	bone facial bone	http://purl.obolibrary.org/obo/HP_0041220							
HP:0041221	biolink:PhenotypicFeature	Fractured head of femur	A partial or complete breakage of the head of femur.		hp.json	bone head of femur	http://purl.obolibrary.org/obo/HP_0041221							
HP:0041222	biolink:PhenotypicFeature	Fractured fibula	A partial or complete breakage of the fibula.		hp.json	Broken fibula|Fibula fracture|Fracture of the fibula|bone fibula	http://purl.obolibrary.org/obo/HP_0041222							
HP:0041223	biolink:PhenotypicFeature	Fractured metatarsal bone of digit 5	A partial or complete breakage of the metatarsal bone of digit 5.		hp.json	bone metatarsal bone of digit 5	http://purl.obolibrary.org/obo/HP_0041223							
HP:0041224	biolink:PhenotypicFeature	Fractured manual digit bone	A partial or complete breakage of the manual digit bone.		hp.json	bone manual digit bone	http://purl.obolibrary.org/obo/HP_0041224							
HP:0041225	biolink:PhenotypicFeature	Fractured metacarpal bone of digit 1	A partial or complete breakage of the metacarpal bone of digit 1.		hp.json	bone metacarpal bone of digit 1	http://purl.obolibrary.org/obo/HP_0041225							
HP:0041226	biolink:PhenotypicFeature	Fractured distal tarsal bone	A partial or complete breakage of the distal tarsal bone.		hp.json	bone distal tarsal bone	http://purl.obolibrary.org/obo/HP_0041226							
HP:0041227	biolink:PhenotypicFeature	Fractured distal tarsal bone 2	A partial or complete breakage of the distal tarsal bone 2.		hp.json	bone distal tarsal bone 2	http://purl.obolibrary.org/obo/HP_0041227							
HP:0041228	biolink:PhenotypicFeature	Fractured distal tarsal bone 3	A partial or complete breakage of the distal tarsal bone 3.		hp.json	bone distal tarsal bone 3	http://purl.obolibrary.org/obo/HP_0041228							
HP:0041230	biolink:PhenotypicFeature	Fractured metatarsal bone of digit 4	A partial or complete breakage of the metatarsal bone of digit 4.		hp.json	bone metatarsal bone of digit 4	http://purl.obolibrary.org/obo/HP_0041230							
HP:0041231	biolink:PhenotypicFeature	Fractured metatarsal bone of digit 1	A partial or complete breakage of the metatarsal bone of digit 1.		hp.json	bone metatarsal bone of digit 1	http://purl.obolibrary.org/obo/HP_0041231							
HP:0041232	biolink:PhenotypicFeature	Fractured skeleton of manual acropodium	A partial or complete breakage of the skeleton of manual acropodium.		hp.json	bone skeleton of manual acropodium	http://purl.obolibrary.org/obo/HP_0041232							
HP:0041233	biolink:PhenotypicFeature	Fractured ilium	A partial or complete breakage of the ilium.		hp.json	bone ilium	http://purl.obolibrary.org/obo/HP_0041233							
HP:0041234	biolink:PhenotypicFeature	Fractured bone of jaw	A partial or complete breakage of the bone of jaw.		hp.json	bone bone of jaw	http://purl.obolibrary.org/obo/HP_0041234							
HP:0041235	biolink:PhenotypicFeature	Fractured hindlimb bone	A partial or complete breakage of the hindlimb bone.		hp.json	bone hindlimb bone	http://purl.obolibrary.org/obo/HP_0041235							
HP:0041236	biolink:PhenotypicFeature	Fractured middle phalanx of manus	A partial or complete breakage of the middle phalanx of manus.		hp.json	bone middle phalanx of manus	http://purl.obolibrary.org/obo/HP_0041236							
HP:0041237	biolink:PhenotypicFeature	Fractured patella	A partial or complete breakage of the patella.		hp.json	bone patella	http://purl.obolibrary.org/obo/HP_0041237							
HP:0041239	biolink:PhenotypicFeature	Fractured manual digit 1 phalanx	A partial or complete breakage of the manual digit 1 phalanx.		hp.json	bone manual digit 1 phalanx	http://purl.obolibrary.org/obo/HP_0041239							
HP:0041240	biolink:PhenotypicFeature	Fractured phalanx of pes	A partial or complete breakage of the phalanx of pes.		hp.json	bone phalanx of pes	http://purl.obolibrary.org/obo/HP_0041240							
HP:0041241	biolink:PhenotypicFeature	Fractured phalanx of manus	A partial or complete breakage of the phalanx of manus.		hp.json	bone phalanx of manus	http://purl.obolibrary.org/obo/HP_0041241							
HP:0041243	biolink:PhenotypicFeature	Fractured proximal phalanx of manus	A partial or complete breakage of the proximal phalanx of manus.		hp.json	bone proximal phalanx of manus	http://purl.obolibrary.org/obo/HP_0041243							
HP:0041244	biolink:PhenotypicFeature	Fractured scapula	A partial or complete breakage of the scapula.		hp.json	bone scapula	http://purl.obolibrary.org/obo/HP_0041244							
HP:0041245	biolink:PhenotypicFeature	Fractured shoulder bone	A partial or complete breakage of the shoulder bone.		hp.json	bone shoulder bone	http://purl.obolibrary.org/obo/HP_0041245							
HP:0041246	biolink:PhenotypicFeature	Fractured sternum	A partial or complete breakage of the sternum.		hp.json	bone sternum	http://purl.obolibrary.org/obo/HP_0041246							
HP:0041247	biolink:PhenotypicFeature	Fractured tarsal bone	A partial or complete breakage of the tarsal bone.		hp.json	bone tarsal bone	http://purl.obolibrary.org/obo/HP_0041247							
HP:0041248	biolink:PhenotypicFeature	Fractured carpal bone	A partial or complete breakage of the carpal bone.		hp.json	Broken wrist|Carpal bone fracture|Fractured wrist|Wrist fracture|bone carpal bone	http://purl.obolibrary.org/obo/HP_0041248							
HP:0041249	biolink:PhenotypicFeature	Fractured nose	A partial or complete breakage of the nose.		hp.json	bone nose	http://purl.obolibrary.org/obo/HP_0041249							
HP:0045001	biolink:PhenotypicFeature	Abnormal ossification of the trapezium		UMLS:C4022409	hp.json		http://purl.obolibrary.org/obo/HP_0045001							
HP:0045002	biolink:PhenotypicFeature	Absent ossification of the trapezium		UMLS:C4022408	hp.json		http://purl.obolibrary.org/obo/HP_0045002							
HP:0045003	biolink:PhenotypicFeature	Abnormal ossification of the scaphoid		UMLS:C4022407	hp.json		http://purl.obolibrary.org/obo/HP_0045003							
HP:0045004	biolink:PhenotypicFeature	Abnormal ossification of the trapezoid bone		UMLS:C4022406	hp.json		http://purl.obolibrary.org/obo/HP_0045004							
HP:0045005	biolink:PhenotypicFeature	Neural tube defect	A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.	MSH:D009436|SNOMEDCT_US:253098009|UMLS:C0027794	hp.json	Abnormality of neural tube closure	http://purl.obolibrary.org/obo/HP_0045005							
HP:0045006	biolink:PhenotypicFeature	Aplasia of lymphatic vessels	Aplasia (absence) of the lymphatic vessels.	UMLS:C4022404	hp.json	Absent lymphatic vessels	http://purl.obolibrary.org/obo/HP_0045006							
HP:0045007	biolink:PhenotypicFeature	Abnormal substantia nigra morphology	A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.	UMLS:C4022403	hp.json	Abnormality of the substantia nigra	http://purl.obolibrary.org/obo/HP_0045007							
HP:0045008	biolink:PhenotypicFeature	Abnormal shape of the radius		UMLS:C4022402	hp.json		http://purl.obolibrary.org/obo/HP_0045008							
HP:0045009	biolink:PhenotypicFeature	Abnormal morphology of the radius		UMLS:C4022401	hp.json		http://purl.obolibrary.org/obo/HP_0045009							
HP:0045010	biolink:PhenotypicFeature	Abnormality of peripheral nerves		UMLS:C4022400	hp.json		http://purl.obolibrary.org/obo/HP_0045010							
HP:0045011	biolink:PhenotypicFeature	Decreased urine bicarbonate concentration	Abnormally decreased concentration of hydrogencarbonate in the urine.	UMLS:C4022399	hp.json	Decreased urine HCO3 concentration	http://purl.obolibrary.org/obo/HP_0045011							
HP:0045012	biolink:PhenotypicFeature	Decreased urinary catecholamine concentration		UMLS:C4022398	hp.json		http://purl.obolibrary.org/obo/HP_0045012							
HP:0045013	biolink:PhenotypicFeature	obsolete Decreased urinary glucose concentration			hp.json		http://purl.obolibrary.org/obo/HP_0045013							
HP:0045014	biolink:PhenotypicFeature	Hypolipidemia		SNOMEDCT_US:238090007|UMLS:C0342892	hp.json		http://purl.obolibrary.org/obo/HP_0045014							
HP:0045016	biolink:PhenotypicFeature	obsolete Elevated serum long-chain fatty acids			hp.json	Increased serum long-chain fatty acids	http://purl.obolibrary.org/obo/HP_0045016							
HP:0045017	biolink:PhenotypicFeature	Congenital malformation of the left heart	Defect or defects of the morphogenesis of the left heart identifiable at birth.	UMLS:C4022397	hp.json		http://purl.obolibrary.org/obo/HP_0045017							
HP:0045018	biolink:PhenotypicFeature	Partial duplication of eyebrows		UMLS:C4022396	hp.json	Partial double eyebrow|Partial duplication of eyebrows	http://purl.obolibrary.org/obo/HP_0045018							
HP:0045025	biolink:PhenotypicFeature	Narrow palpebral fissure	Reduction in the vertical distance between the upper and lower eyelids.	UMLS:C1837464|UMLS:C2675021	hp.json	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							
HP:0045026	biolink:PhenotypicFeature	Abnormality of the mediastinum		UMLS:C4022395	hp.json		http://purl.obolibrary.org/obo/HP_0045026							
HP:0045027	biolink:PhenotypicFeature	Abnormality of the thoracic cavity		UMLS:C4022394	hp.json		http://purl.obolibrary.org/obo/HP_0045027							
HP:0045028	biolink:PhenotypicFeature	Microlissencephaly	Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.	UMLS:C4021030	hp.json	Lissencephaly type III|Type 3 lissencephaly|Type III lissencephaly	http://purl.obolibrary.org/obo/HP_0045028							
HP:0045029	biolink:PhenotypicFeature	Eosinophilic fasciitis	Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.	MSH:C562487|SNOMEDCT_US:24129002|UMLS:C0264005	hp.json		http://purl.obolibrary.org/obo/HP_0045029							
HP:0045034	biolink:PhenotypicFeature	Elevated urinary aminoisobutyric acid	An increased amount of 3-aminoisobutyric acid in the urine.	UMLS:C4022393	hp.json		http://purl.obolibrary.org/obo/HP_0045034							
HP:0045035	biolink:PhenotypicFeature	Decreased urinary copper concentration		UMLS:C4073164	hp.json	Decreased urinary copper concentration	http://purl.obolibrary.org/obo/HP_0045035							
HP:0045036	biolink:PhenotypicFeature	Abnormal urinary copper concentration		UMLS:C4073165	hp.json	Abnormal urinary copper concentration	http://purl.obolibrary.org/obo/HP_0045036							
HP:0045037	biolink:PhenotypicFeature	Abnormality of jaw muscles		UMLS:C4073166	hp.json	Abnormality of jaw muscles	http://purl.obolibrary.org/obo/HP_0045037							
HP:0045038	biolink:PhenotypicFeature	Gastric lymphoma	Lymphoma that originates in the stomach itself.	MSH:C535648|SNOMEDCT_US:276811008|UMLS:C0349532	hp.json	Primary gastric lymphoma	http://purl.obolibrary.org/obo/HP_0045038							
HP:0045039	biolink:PhenotypicFeature	Osteolysis involving bones of the upper limbs		UMLS:C4073167	hp.json		http://purl.obolibrary.org/obo/HP_0045039							
HP:0045040	biolink:PhenotypicFeature	Abnormal lactate dehydrogenase level	A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.	UMLS:C4073168	hp.json		http://purl.obolibrary.org/obo/HP_0045040							
HP:0045041	biolink:PhenotypicFeature	Reduced lactate dehydrogenase B level	A decreased or reduced level of the enzyme lactate dehydrogenase in serum.	MSH:C563641|UMLS:C3279904	hp.json		http://purl.obolibrary.org/obo/HP_0045041							
HP:0045042	biolink:PhenotypicFeature	Decreased serum complement C4	A reduced level of the complement component C4 in the circulation.	UMLS:C4073169	hp.json	Decreased serum complement C4 level	http://purl.obolibrary.org/obo/HP_0045042							
HP:0045043	biolink:PhenotypicFeature	Decreased serum complement C4a	A reduced level of the complement component C4a in circulation.	UMLS:C4073170	hp.json	C4a deficiency|Complement component 4A deficiency	http://purl.obolibrary.org/obo/HP_0045043							
HP:0045044	biolink:PhenotypicFeature	Decreased serum complement C4b	A reduced level of the complement component C4b in circulation.	UMLS:C3280641	hp.json	C4b deficiency|Complement component 4B deficiency	http://purl.obolibrary.org/obo/HP_0045044							
HP:0045045	biolink:PhenotypicFeature	Elevated circulating acylcarnitine concentration	An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.	UMLS:C4073171	hp.json	Elevated plasma acylcarnitine levels	http://purl.obolibrary.org/obo/HP_0045045							
HP:0045046	biolink:PhenotypicFeature	Reduced insulin like growth factor binding protein acid labile subunit level	Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.	UMLS:C3900122	hp.json	Acid-labile subunit deficiency|Decreased levels of acid labile subunit	http://purl.obolibrary.org/obo/HP_0045046							
HP:0045047	biolink:PhenotypicFeature	HbS hemoglobin	Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.	MSH:D006451|SNOMEDCT_US:50095005|UMLS:C0019043	hp.json	HbS haemoglobin	http://purl.obolibrary.org/obo/HP_0045047							
HP:0045048	biolink:PhenotypicFeature	Increased HbA2 hemoglobin	An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.	UMLS:C4073172	hp.json	Increased HbA2 haemoglobin|Increased haemoglobin A2|Increased hemoglobin A2	http://purl.obolibrary.org/obo/HP_0045048							
HP:0045049	biolink:PhenotypicFeature	Abnormal DLCO	An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.	UMLS:C4073173	hp.json	Abnormal TLCO|Abnormal diffusing capacity|Abnormal transfer factor of the lung for carbon monoxide	http://purl.obolibrary.org/obo/HP_0045049							
HP:0045050	biolink:PhenotypicFeature	Increased DLCO	Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.	UMLS:C4073174	hp.json	Increased diffusing capacity	http://purl.obolibrary.org/obo/HP_0045050							
HP:0045051	biolink:PhenotypicFeature	Decreased DLCO	Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.	UMLS:C4073175	hp.json	Decreased diffusing capacity	http://purl.obolibrary.org/obo/HP_0045051							
HP:0045052	biolink:PhenotypicFeature	Abnormality of the brachial nerve plexus	Any abnormality of the brachial nerve plexus.	UMLS:C4073176	hp.json		http://purl.obolibrary.org/obo/HP_0045052							
HP:0045053	biolink:PhenotypicFeature	Abnormality of the lumbosacral nerve plexus	Any abnormality of the lumbosacral nerve plexus.	UMLS:C4073177	hp.json		http://purl.obolibrary.org/obo/HP_0045053							
HP:0045054	biolink:PhenotypicFeature	Brachial plexus neuropathy		MSH:D020516|SNOMEDCT_US:3548001|UMLS:C0700251	hp.json		http://purl.obolibrary.org/obo/HP_0045054							
HP:0045055	biolink:PhenotypicFeature	Tiger tail banding	An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.	UMLS:C4073178	hp.json	Tiger tail banding|Tiger-tail banding	http://purl.obolibrary.org/obo/HP_0045055							
HP:0045056	biolink:PhenotypicFeature	Abnormal levels of alpha-fetoprotein		UMLS:C4073179	hp.json		http://purl.obolibrary.org/obo/HP_0045056							
HP:0045057	biolink:PhenotypicFeature	Decreased levels of alpha-fetoprotein	A decrease in the concentration of alpha-fetoprotein in the blood circulation.	UMLS:C4073295	hp.json		http://purl.obolibrary.org/obo/HP_0045057							
HP:0045058	biolink:PhenotypicFeature	Abnormality of the testis size	An anomaly of the size of the testicle (the male gonad).	UMLS:C4073180	hp.json		http://purl.obolibrary.org/obo/HP_0045058							
HP:0045059	biolink:PhenotypicFeature	Hyperkeratotic papule	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).	UMLS:C2047516	hp.json		http://purl.obolibrary.org/obo/HP_0045059							
HP:0045060	biolink:PhenotypicFeature	Aplasia/hypoplasia involving bones of the extremities		UMLS:C4073181	hp.json		http://purl.obolibrary.org/obo/HP_0045060							
HP:0045061	biolink:PhenotypicFeature	Decreased carnitine level in liver		UMLS:C4073182	hp.json		http://purl.obolibrary.org/obo/HP_0045061							
HP:0045063	biolink:PhenotypicFeature	Increased PIVKA-II	Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.	UMLS:C1112467	hp.json	Increased prothrombin induced by vitamin K absence-II	http://purl.obolibrary.org/obo/HP_0045063							
HP:0045073	biolink:PhenotypicFeature	Serositis	Inflammation in any serous cavity.		hp.json		http://purl.obolibrary.org/obo/HP_0045073							
HP:0045074	biolink:PhenotypicFeature	Thin eyebrow	Decreased diameter of eyebrow hairs.		hp.json	Thin eyebrow|Thin eyebrows	http://purl.obolibrary.org/obo/HP_0045074							
HP:0045075	biolink:PhenotypicFeature	Sparse eyebrow	Decreased density/number of eyebrow hairs.		hp.json	Sparse eyebrow|Sparse eyebrows|Hypotrichosis of eyebrow	http://purl.obolibrary.org/obo/HP_0045075							
HP:0045079	biolink:PhenotypicFeature	Distal femoral metaphyseal irregularity	Irregularity of the normally smooth surface of the distal metaphysis of the femur.		hp.json	Irregular distal femoral metaphyses	http://purl.obolibrary.org/obo/HP_0045079							
HP:0045080	biolink:PhenotypicFeature	Decreased proportion of CD3-positive T cells	Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.		hp.json	Decreased proportion of CD3+ T cells	http://purl.obolibrary.org/obo/HP_0045080							
HP:0045081	biolink:PhenotypicFeature	Abnormality of body mass index	Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.		hp.json	Abnormal BMI|Abnormal body mass index	http://purl.obolibrary.org/obo/HP_0045081							
HP:0045082	biolink:PhenotypicFeature	Decreased body mass index	Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.		hp.json	Decreased BMI	http://purl.obolibrary.org/obo/HP_0045082							
HP:0045083	biolink:PhenotypicFeature	obsolete Increased body mass index			hp.json		http://purl.obolibrary.org/obo/HP_0045083							
HP:0045084	biolink:PhenotypicFeature	Limb myoclonus			hp.json	Myoclonus of limbs	http://purl.obolibrary.org/obo/HP_0045084							
HP:0045085	biolink:PhenotypicFeature	Atrophy of masseter muscle			hp.json	Atrophied masseter muscle|Masseter muscle atrophy	http://purl.obolibrary.org/obo/HP_0045085							
HP:0045086	biolink:PhenotypicFeature	Knee joint hypermobility	The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).		hp.json	Knee joint over-flexibility	http://purl.obolibrary.org/obo/HP_0045086							
HP:0045088	biolink:PhenotypicFeature	Clinical relevance	Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.		hp.json		http://purl.obolibrary.org/obo/HP_0045088							
HP:0045089	biolink:PhenotypicFeature	Distinctive finding	In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.		hp.json		http://purl.obolibrary.org/obo/HP_0045089							
HP:0045090	biolink:PhenotypicFeature	Minor finding	In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.		hp.json		http://purl.obolibrary.org/obo/HP_0045090							
HP:0046502	biolink:PhenotypicFeature	Anorgasmia	Inability of individual to reach orgasm.		hp.json		http://purl.obolibrary.org/obo/HP_0046502							
HP:0046503	biolink:PhenotypicFeature	Increased libido	Elevated sexual desire.		hp.json		http://purl.obolibrary.org/obo/HP_0046503							
HP:0046504	biolink:PhenotypicFeature	Decreased libido	Decreased sexual desire.		hp.json		http://purl.obolibrary.org/obo/HP_0046504							
HP:0046505	biolink:PhenotypicFeature	Hand pain	An unpleasant sensation characterized by physical discomfort localized to the hand.		hp.json		http://purl.obolibrary.org/obo/HP_0046505							
HP:0046506	biolink:PhenotypicFeature	Pain in head and neck region			hp.json		http://purl.obolibrary.org/obo/HP_0046506							
HP:0046507	biolink:PhenotypicFeature	Bradypnea	Bradypnea is referring to breathing that is abnormally slow.	SNOMED_CT:86684002	hp.json		http://purl.obolibrary.org/obo/HP_0046507							
HP:0046508	biolink:PhenotypicFeature	Abnormal cervical spine morphology	Any morphological abnormality of the cervical vertebral column.	SNOMED_CT:298391004	hp.json		http://purl.obolibrary.org/obo/HP_0046508							
HP:0100000	biolink:PhenotypicFeature	Early onset of sexual maturation	An early onset of puberty, in this case early does not refer to precocious.	UMLS:C4022392	hp.json	Early onset of sexual maturation	http://purl.obolibrary.org/obo/HP_0100000							
HP:0100001	biolink:PhenotypicFeature	Malignant mesothelioma	Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.	MSH:C562839|SNOMEDCT_US:62064005|UMLS:C0345967	hp.json		http://purl.obolibrary.org/obo/HP_0100001							
HP:0100002	biolink:PhenotypicFeature	Pleural mesothelioma	A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.	NCIT:C3234|SNOMEDCT_US:254645002|UMLS:C0812413	hp.json		http://purl.obolibrary.org/obo/HP_0100002							
HP:0100003	biolink:PhenotypicFeature	Peritoneal mesothelioma	A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.	NCIT:C3234|SNOMEDCT_US:109853004|UMLS:C0346109	hp.json		http://purl.obolibrary.org/obo/HP_0100003							
HP:0100004	biolink:PhenotypicFeature	Pericardial mesothelioma	A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).	NCIT:C3234|UMLS:C1335381	hp.json		http://purl.obolibrary.org/obo/HP_0100004							
HP:0100005	biolink:PhenotypicFeature	Testicular mesothelioma	A Malignant mesothelioma of the testis.	NCIT:C3234|UMLS:C4022391	hp.json		http://purl.obolibrary.org/obo/HP_0100005							
HP:0100006	biolink:PhenotypicFeature	Neoplasm of the central nervous system	A neoplasm of the central nervous system.	MSH:D016543|NCIT:C3262|SNOMEDCT_US:126951006|UMLS:C0085136	hp.json	Neoplasm of the CNS|Tumors of the central nervous system|Tumours of the central nervous system|Neoplasia of the central nervous system	http://purl.obolibrary.org/obo/HP_0100006							
HP:0100007	biolink:PhenotypicFeature	Neoplasm of the peripheral nervous system	A benign or malignant neoplasm (tumour) of the peripheral nervous system.	MSH:D010524|NCIT:C3262|SNOMEDCT_US:126980002|UMLS:C0031118	hp.json	Tumor of the peripheral nervous system|Tumour of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0100007							
HP:0100008	biolink:PhenotypicFeature	Schwannoma	A benign nerve sheath tumor composed of Schwann cells.	MSH:D009442|SNOMEDCT_US:404022001|SNOMEDCT_US:985004|UMLS:C0027809	hp.json	Neurilemmoma|Neurinoma|Neurolemmoma|Schwann cell tumor|Schwann cell tumour|Schwannomas	http://purl.obolibrary.org/obo/HP_0100008							
HP:0100009	biolink:PhenotypicFeature	Intracranial meningioma		MSH:D008579|SNOMEDCT_US:302820008|UMLS:C0349604	hp.json		http://purl.obolibrary.org/obo/HP_0100009							
HP:0100010	biolink:PhenotypicFeature	Spinal meningioma		MSH:D008579|NCIT:C3230|SNOMEDCT_US:189167009|UMLS:C0347515	hp.json		http://purl.obolibrary.org/obo/HP_0100010							
HP:0100011	biolink:PhenotypicFeature	Scleral schwannoma		NCIT:C3269|UMLS:C4022390	hp.json		http://purl.obolibrary.org/obo/HP_0100011							
HP:0100012	biolink:PhenotypicFeature	Neoplasm of the eye	A tumor (abnormal growth of tissue) of the eye.	MSH:D005134|NCIT:C3262|SNOMEDCT_US:371486001|UMLS:C0015414	hp.json	Eye tumor|Eye tumour|Neoplasia of the eye	http://purl.obolibrary.org/obo/HP_0100012							
HP:0100013	biolink:PhenotypicFeature	Neoplasm of the breast	A tumor (abnormal growth of tissue) of the breast.	MSH:D001943|NCIT:C3262|SNOMEDCT_US:126926005|UMLS:C1458155	hp.json	Breast tumor|Tumours of the breast|Breast tumour|Neoplasia of the breast	http://purl.obolibrary.org/obo/HP_0100013							
HP:0100014	biolink:PhenotypicFeature	Epiretinal membrane	An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.	MSH:D019773|SNOMEDCT_US:133853005|SNOMEDCT_US:367649002|UMLS:C0339543	hp.json	Macular pucker|Premacular fibrosis|Epiretinal membranes	http://purl.obolibrary.org/obo/HP_0100014							
HP:0100015	biolink:PhenotypicFeature	Stahl ear	The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.	SNOMEDCT_US:253252004|UMLS:C1862689	hp.json	Additional crus|Third crus	http://purl.obolibrary.org/obo/HP_0100015							
HP:0100016	biolink:PhenotypicFeature	Abnormality of mesentery morphology	Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).	UMLS:C4022389	hp.json	Abnormality of the mesentery	http://purl.obolibrary.org/obo/HP_0100016							
HP:0100017	biolink:PhenotypicFeature	Capsular cataract	A cataract that affects the capsule of the lens.	SNOMEDCT_US:204125003|UMLS:C0339352	hp.json		http://purl.obolibrary.org/obo/HP_0100017							
HP:0100018	biolink:PhenotypicFeature	Nuclear cataract	A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.	SNOMEDCT_US:53889007|UMLS:C0392557	hp.json	Yellowish cloudy center of lens|Yellowish cloudy centre of lens	http://purl.obolibrary.org/obo/HP_0100018							hposlim_core
HP:0100019	biolink:PhenotypicFeature	Cortical cataract	A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.	SNOMEDCT_US:193576003|UMLS:C0271160	hp.json		http://purl.obolibrary.org/obo/HP_0100019							hposlim_core
HP:0100020	biolink:PhenotypicFeature	Posterior capsular cataract	A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.	UMLS:C4022388	hp.json		http://purl.obolibrary.org/obo/HP_0100020							
HP:0100021	biolink:PhenotypicFeature	Cerebral palsy	Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.	MSH:D002547|SNOMEDCT_US:128188000|UMLS:C0007789	hp.json	CP|Cerebral paralysis	http://purl.obolibrary.org/obo/HP_0100021							
HP:0100022	biolink:PhenotypicFeature	Abnormality of movement	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.	MSH:D009069|SNOMEDCT_US:60342002|UMLS:C0026650	hp.json	Abnormality of movement|Movement disorder|Unusual movement	http://purl.obolibrary.org/obo/HP_0100022							
HP:0100023	biolink:PhenotypicFeature	Recurrent hand flapping	A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.	UMLS:C4022387	hp.json		http://purl.obolibrary.org/obo/HP_0100023							
HP:0100024	biolink:PhenotypicFeature	Conspicuously happy disposition	An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.	UMLS:C4021029	hp.json	Conspicious happy aspect|Happy aspect	http://purl.obolibrary.org/obo/HP_0100024							
HP:0100025	biolink:PhenotypicFeature	Overfriendliness	A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.	UMLS:C4022386	hp.json	Overfriendliness	http://purl.obolibrary.org/obo/HP_0100025							
HP:0100026	biolink:PhenotypicFeature	Arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.	MSH:D001165|SNOMEDCT_US:234141001|SNOMEDCT_US:24551003|UMLS:C0003857	hp.json		http://purl.obolibrary.org/obo/HP_0100026							
HP:0100027	biolink:PhenotypicFeature	Recurrent pancreatitis	A recurrent form of pancreatitis.	MSH:D050500|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|UMLS:C0149521	hp.json	Recurring pancreas inflammation|Recurring pancreatitis	http://purl.obolibrary.org/obo/HP_0100027							
HP:0100028	biolink:PhenotypicFeature	Ectopic thyroid	Mislocalised thyroid gland.	MSH:D050033|SNOMEDCT_US:214660000|UMLS:C0266283	hp.json	Abnormal thryoid location|Aberrant thyroid|Aberrant thyroid gland|Ectopic thyroid gland|Heteropic thyroid gland	http://purl.obolibrary.org/obo/HP_0100028							
HP:0100029	biolink:PhenotypicFeature	Lingual thyroid	An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.	MSH:D046151|SNOMEDCT_US:129123002|SNOMEDCT_US:21279007|UMLS:C0266284	hp.json		http://purl.obolibrary.org/obo/HP_0100029							
HP:0100030	biolink:PhenotypicFeature	Accessory ectopic thyroid tissue	Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.	UMLS:C4022385	hp.json		http://purl.obolibrary.org/obo/HP_0100030							
HP:0100031	biolink:PhenotypicFeature	Neoplasm of the thyroid gland	A tumor (abnormal growth of tissue) of the thyroid gland.	MSH:D013964|NCIT:C3262|SNOMEDCT_US:127018007|UMLS:C0040136	hp.json	Neoplasia of the thyroid gland	http://purl.obolibrary.org/obo/HP_0100031							
HP:0100033	biolink:PhenotypicFeature	Tics	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.	UMLS:C2169806	hp.json	Tic disorder|Tics	http://purl.obolibrary.org/obo/HP_0100033							
HP:0100034	biolink:PhenotypicFeature	Motor tics	Movement-based tics affecting discrete muscle groups.	MSH:D020323|UMLS:C0751900	hp.json		http://purl.obolibrary.org/obo/HP_0100034							
HP:0100035	biolink:PhenotypicFeature	Phonic tics	Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.	MSH:D020323|UMLS:C0751901	hp.json	Verbal tics|Vocal tics	http://purl.obolibrary.org/obo/HP_0100035							
HP:0100036	biolink:PhenotypicFeature	Pseudo-fractures	A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.	UMLS:C4021028	hp.json	Looser zones	http://purl.obolibrary.org/obo/HP_0100036							
HP:0100037	biolink:PhenotypicFeature	Abnormality of the scalp hair	An abnormality of the hair of head.	UMLS:C4022384	hp.json	Abnormality of the scalp hair	http://purl.obolibrary.org/obo/HP_0100037							
HP:0100038	biolink:PhenotypicFeature	Slow-growing scalp hair	Scalp hair whose growth is slower than normal.	UMLS:C4022383	hp.json	Slow-growing scalp hair	http://purl.obolibrary.org/obo/HP_0100038							
HP:0100039	biolink:PhenotypicFeature	Thickened cortex of bones	An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.	UMLS:C4022382	hp.json		http://purl.obolibrary.org/obo/HP_0100039							
HP:0100040	biolink:PhenotypicFeature	Broad 2nd toe	A broad appearance of the second toe.	UMLS:C4022381	hp.json	Wide 2nd toe	http://purl.obolibrary.org/obo/HP_0100040							
HP:0100041	biolink:PhenotypicFeature	Broad 3rd toe	A broad appearance of the third toe.	UMLS:C4022380	hp.json	Broad 3rd toe|Wide 3rd toe	http://purl.obolibrary.org/obo/HP_0100041							
HP:0100042	biolink:PhenotypicFeature	Broad 4th toe	A broad appearance of the fourth toe.	UMLS:C4022379	hp.json	Broad 4th toe|Wide 4th toe	http://purl.obolibrary.org/obo/HP_0100042							
HP:0100043	biolink:PhenotypicFeature	Broad 5th toe	A broad appearance of the fifth toe.	UMLS:C4022378	hp.json	Broad 5th toe|Broad little toe|Broad pinkie toe|Broad pinky toe	http://purl.obolibrary.org/obo/HP_0100043							
HP:0100044	biolink:PhenotypicFeature	Absent epiphyses of the 2nd toe		UMLS:C4022377	hp.json	Absent end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100044							
HP:0100045	biolink:PhenotypicFeature	Bracket epiphyses of the 2nd toe		UMLS:C4022376	hp.json	Bracket shaped end part of 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100045							
HP:0100046	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 2nd toe		UMLS:C4022375	hp.json	Cone-shaped end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100046							
HP:0100047	biolink:PhenotypicFeature	Enlarged epiphyses of the 2nd toe		UMLS:C4022374	hp.json	Enlarged end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100047							
HP:0100048	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 2nd toe		UMLS:C4022373	hp.json	Fragmentation of the end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100048							
HP:0100049	biolink:PhenotypicFeature	Irregular epiphyses of the 2nd toe		UMLS:C4022372	hp.json	Irregular end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100049							
HP:0100050	biolink:PhenotypicFeature	Ivory epiphyses of the 2nd toe	Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4022371	hp.json	Increased bone density of end part of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100050							
HP:0100051	biolink:PhenotypicFeature	Pseudoepiphyses of the 2nd toe		UMLS:C4022370	hp.json		http://purl.obolibrary.org/obo/HP_0100051							
HP:0100052	biolink:PhenotypicFeature	Small epiphyses of the 2nd toe		UMLS:C4022369	hp.json	Small end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100052							
HP:0100053	biolink:PhenotypicFeature	Stippling of the epiphyses of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.	UMLS:C4022368	hp.json	Speckled calcifications in the end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100053							
HP:0100054	biolink:PhenotypicFeature	Triangular epiphyses of the 2nd toe		UMLS:C4022367	hp.json	Triangular end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100054							
HP:0100055	biolink:PhenotypicFeature	Absent epiphyses of the 3rd toe		UMLS:C4022366	hp.json	Absent end part of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100055							
HP:0100056	biolink:PhenotypicFeature	Bracket epiphyses of the 3rd toe		UMLS:C4022365	hp.json	Bracket shaped end part of 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100056							
HP:0100057	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 3rd toe		UMLS:C4022364	hp.json	Cone-shaped end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100057							
HP:0100058	biolink:PhenotypicFeature	Enlarged epiphyses of the 3rd toe		UMLS:C4022363	hp.json	Enlarged end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100058							
HP:0100059	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 3rd toe		UMLS:C4022362	hp.json	Fragmentation of the end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100059							
HP:0100060	biolink:PhenotypicFeature	Irregular epiphyses of the 3rd toe		UMLS:C4022361	hp.json	Irregular end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100060							
HP:0100061	biolink:PhenotypicFeature	Ivory epiphyses of the 3rd toe	Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4022360	hp.json	Increased bone density of end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100061							
HP:0100062	biolink:PhenotypicFeature	Pseudoepiphyses of the 3rd toe		UMLS:C4022359	hp.json		http://purl.obolibrary.org/obo/HP_0100062							
HP:0100063	biolink:PhenotypicFeature	Small epiphyses of the 3rd toe		UMLS:C4022358	hp.json	Small end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100063							
HP:0100064	biolink:PhenotypicFeature	Stippling of the epiphyses of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.	UMLS:C4022357	hp.json	Speckled calcifications in the end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100064							
HP:0100065	biolink:PhenotypicFeature	Triangular epiphyses of the 3rd toe		UMLS:C4022356	hp.json	Triangular end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100065							
HP:0100066	biolink:PhenotypicFeature	Absent epiphyses of the 4th toe		UMLS:C4022355	hp.json	Absent end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100066							
HP:0100067	biolink:PhenotypicFeature	Bracket epiphyses of the 4th toe		UMLS:C4022354	hp.json	Bracket shaped end part of 4th toe bone	http://purl.obolibrary.org/obo/HP_0100067							
HP:0100068	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 4th toe		UMLS:C4022353	hp.json	Cone-shaped end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100068							
HP:0100069	biolink:PhenotypicFeature	Enlarged epiphyses of the 4th toe		UMLS:C4022352	hp.json	Enlarged end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100069							
HP:0100070	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 4th toe		UMLS:C4022351	hp.json	Fragmentation of the end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100070							
HP:0100071	biolink:PhenotypicFeature	Irregular epiphyses of the 4th toe		UMLS:C4022350	hp.json	Irregular end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100071							
HP:0100072	biolink:PhenotypicFeature	Ivory epiphyses of the 4th toe	Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4022349	hp.json	Increased bone density of end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100072							
HP:0100073	biolink:PhenotypicFeature	Pseudoepiphyses of the 4th toe		UMLS:C4022348	hp.json		http://purl.obolibrary.org/obo/HP_0100073							
HP:0100074	biolink:PhenotypicFeature	Small epiphyses of the 4th toe		UMLS:C4022347	hp.json	Small end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100074							
HP:0100075	biolink:PhenotypicFeature	Stippling of the epiphyses of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.	UMLS:C4022346	hp.json	Speckled calcifications in the end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100075							
HP:0100076	biolink:PhenotypicFeature	Triangular epiphyses of the 4th toe		UMLS:C4022345	hp.json	Triangular end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100076							
HP:0100077	biolink:PhenotypicFeature	Absent epiphyses of the 5th toe		UMLS:C4022344	hp.json	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	biolink:PhenotypicFeature	Bracket epiphyses of the 5th toe		UMLS:C4022343	hp.json	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	biolink:PhenotypicFeature	Cone-shaped epiphyses of the 5th toe		UMLS:C4022342	hp.json	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	biolink:PhenotypicFeature	Enlarged epiphyses of the 5th toe		UMLS:C4022341	hp.json	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	biolink:PhenotypicFeature	Fragmentation of the epiphyses of the 5th toe		UMLS:C4022340	hp.json	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	biolink:PhenotypicFeature	Irregular epiphyses of the 5th toe		UMLS:C4022339	hp.json	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	biolink:PhenotypicFeature	Ivory epiphyses of the 5th toe	Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.	UMLS:C4022338	hp.json	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							
HP:0100084	biolink:PhenotypicFeature	Pseudoepiphyses of the 5th toe		UMLS:C4022337	hp.json		http://purl.obolibrary.org/obo/HP_0100084							
HP:0100085	biolink:PhenotypicFeature	Small epiphyses of the 5th toe		UMLS:C4022336	hp.json	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	biolink:PhenotypicFeature	Stippling of the epiphyses of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.	UMLS:C4022335	hp.json	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							
HP:0100087	biolink:PhenotypicFeature	Triangular epiphyses of the 5th toe		UMLS:C4022334	hp.json	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	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022333	hp.json	Abnormality of the end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088							
HP:0100089	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022332	hp.json	Abnormality of the end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089							
HP:0100090	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022331	hp.json	Abnormality of the end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090							
HP:0100091	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022330	hp.json	Abnormality of the end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091							
HP:0100092	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022329	hp.json	Abnormality of the end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092							
HP:0100093	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022328	hp.json	Abnormality of the end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093							
HP:0100094	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 4th toe		UMLS:C4022327	hp.json	Abnormality of the end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094							
HP:0100095	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 4th toe		UMLS:C4022326	hp.json	Abnormality of the end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095							
HP:0100096	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022325	hp.json	Abnormality of the end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096							
HP:0100097	biolink:PhenotypicFeature	Abnormality of the epiphysis of the distal phalanx of the 5th toe		UMLS:C4022324	hp.json	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	biolink:PhenotypicFeature	Abnormality of the epiphysis of the middle phalanx of the 5th toe		UMLS:C4022323	hp.json	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	biolink:PhenotypicFeature	Abnormality of the epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022322	hp.json	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	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022321	hp.json	Absent end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100100							
HP:0100101	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022320	hp.json	Bracket shaped end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100101							
HP:0100102	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022319	hp.json	Cone-shaped end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100102							
HP:0100103	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022318	hp.json	Enlarged end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100103							
HP:0100104	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022317	hp.json	Fragmentation of the end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100104							
HP:0100105	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022316	hp.json	Irregular end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100105							
HP:0100106	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022315	hp.json	Increased bone density of end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100106							
HP:0100107	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 2nd toe		UMLS:C4022314	hp.json		http://purl.obolibrary.org/obo/HP_0100107							
HP:0100108	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022313	hp.json	Small end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100108							
HP:0100109	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.	UMLS:C4022312	hp.json	Speckled calcifications in the end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100109							
HP:0100110	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 2nd toe		UMLS:C4022311	hp.json	Triangular end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100110							
HP:0100111	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022310	hp.json	Absent end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100111							
HP:0100112	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022309	hp.json	Bracket shaped end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100112							
HP:0100113	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022308	hp.json	Cone-shaped end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100113							
HP:0100114	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022307	hp.json	Enlarged end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100114							
HP:0100115	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022306	hp.json	Fragmentation of the end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100115							
HP:0100116	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022305	hp.json	Irregular end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100116							
HP:0100117	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022304	hp.json	Increased bone density of end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100117							
HP:0100118	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 2nd toe		UMLS:C4022303	hp.json		http://purl.obolibrary.org/obo/HP_0100118							
HP:0100119	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022302	hp.json	Small end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100119							
HP:0100120	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.	UMLS:C4022301	hp.json	Speckled calcifications in of the end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100120							
HP:0100121	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 2nd toe		UMLS:C4022300	hp.json	Triangular end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100121							
HP:0100122	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022299	hp.json	Absent end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100122							
HP:0100123	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022298	hp.json	Bracket shaped end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100123							
HP:0100124	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022297	hp.json	Cone-shaped end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100124							
HP:0100125	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022296	hp.json	Enlarged end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100125							
HP:0100126	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022295	hp.json	Fragmentation of the end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100126							
HP:0100127	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022294	hp.json	Irregular end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100127							
HP:0100128	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022293	hp.json	Increased bone density of end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100128							
HP:0100129	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022292	hp.json		http://purl.obolibrary.org/obo/HP_0100129							
HP:0100130	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022291	hp.json	Small end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100130							
HP:0100131	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.	UMLS:C4022290	hp.json	Speckled calcifications in the end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100131							
HP:0100132	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 2nd toe		UMLS:C4022289	hp.json	Triangular end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100132							
HP:0100133	biolink:PhenotypicFeature	Abnormality of the pubic hair	Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.	UMLS:C4022288	hp.json	Abnormality of the pubic hair	http://purl.obolibrary.org/obo/HP_0100133							
HP:0100134	biolink:PhenotypicFeature	Abnormality of the axillary hair	Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.	UMLS:C4022287	hp.json		http://purl.obolibrary.org/obo/HP_0100134							
HP:0100135	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022286	hp.json	Absent end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100135							
HP:0100136	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022285	hp.json	Bracket shaped end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100136							
HP:0100137	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022284	hp.json	Cone-shaped end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100137							
HP:0100138	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022283	hp.json	Enlarged end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100138							
HP:0100139	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022282	hp.json	Fragmentation of the end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100139							
HP:0100140	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022281	hp.json	Irregular end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100140							
HP:0100141	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022280	hp.json	Increased bone density of end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100141							
HP:0100142	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 3rd toe		UMLS:C4022279	hp.json		http://purl.obolibrary.org/obo/HP_0100142							
HP:0100143	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022278	hp.json	Small end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100143							
HP:0100144	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.	UMLS:C4022277	hp.json	Speckled calcifications in the end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100144							
HP:0100145	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 3rd toe		UMLS:C4022276	hp.json	Triangular end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100145							
HP:0100146	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022275	hp.json	Absent end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100146							
HP:0100147	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022274	hp.json	Bracket shaped end part of the middle bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100147							
HP:0100148	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022273	hp.json	Cone-shaped end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100148							
HP:0100149	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022272	hp.json	Enlarged end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100149							
HP:0100150	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022271	hp.json	Fragmentation of the end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100150							
HP:0100151	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022270	hp.json	Irregular end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100151							
HP:0100152	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022269	hp.json	Increased bone density of end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100152							
HP:0100153	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 3rd toe		UMLS:C4022268	hp.json		http://purl.obolibrary.org/obo/HP_0100153							
HP:0100154	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022267	hp.json	Small end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100154							
HP:0100155	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.	UMLS:C4022266	hp.json	Speckled calcifications in the end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100155							
HP:0100156	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 3rd toe		UMLS:C4022265	hp.json	Triangular end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100156							
HP:0100157	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022264	hp.json	Absent end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100157							
HP:0100158	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022263	hp.json	Bracket shaped end part of the innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100158							
HP:0100159	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022262	hp.json	Cone-shaped end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100159							
HP:0100160	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022261	hp.json	Enlarged end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100160							
HP:0100161	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022260	hp.json	Fragmentation of the end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100161							
HP:0100162	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022259	hp.json	Irregular end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100162							
HP:0100163	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022258	hp.json	Increased bone density of end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100163							
HP:0100164	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022257	hp.json		http://purl.obolibrary.org/obo/HP_0100164							
HP:0100165	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022256	hp.json	Small end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100165							
HP:0100166	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.	UMLS:C4022255	hp.json	Speckled calcifications in of the end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100166							
HP:0100167	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 3rd toe		UMLS:C4022254	hp.json	Triangular end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100167							
HP:0100168	biolink:PhenotypicFeature	Fragmented epiphyses	Fragmented appearance of the epiphyses.	UMLS:C4022253	hp.json	Fragmented end part of bone	http://purl.obolibrary.org/obo/HP_0100168							
HP:0100169	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 4th toe		UMLS:C4022252	hp.json	Absent end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100169							
HP:0100170	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 4th toe		UMLS:C4022251	hp.json	Bracket shaped end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100170							
HP:0100171	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 4th toe		UMLS:C4022250	hp.json	Cone-shaped end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100171							
HP:0100172	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 4th toe		UMLS:C4022249	hp.json	Enlarged end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100172							
HP:0100173	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 4th toe		UMLS:C4022248	hp.json	Fragmentation of the end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100173							
HP:0100174	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 4th toe		UMLS:C4022247	hp.json	Irregular end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100174							
HP:0100175	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 4th toe		UMLS:C4022246	hp.json	Increased bone density of end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100175							
HP:0100176	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 4th toe		UMLS:C4022245	hp.json		http://purl.obolibrary.org/obo/HP_0100176							
HP:0100177	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 4th toe		UMLS:C4022244	hp.json	Small end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100177							
HP:0100178	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.	UMLS:C4022243	hp.json	Speckled calcifications in the end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100178							
HP:0100179	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 4th toe		UMLS:C4022242	hp.json	Triangular end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100179							
HP:0100180	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 4th toe		UMLS:C4022241	hp.json	Absent end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100180							
HP:0100181	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 4th toe		UMLS:C4022240	hp.json	Bracket shaped end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100181							
HP:0100182	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 4th toe		UMLS:C4022239	hp.json	Cone-shaped end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100182							
HP:0100183	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 4th toe		UMLS:C4022238	hp.json	Enlarged end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100183							
HP:0100184	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 4th toe		UMLS:C4022237	hp.json	Fragmentation of the end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100184							
HP:0100185	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 4th toe		UMLS:C4022236	hp.json	Irregular end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100185							
HP:0100186	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 4th toe		UMLS:C4022235	hp.json	Increased bone density of end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100186							
HP:0100187	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 4th toe		UMLS:C4022234	hp.json		http://purl.obolibrary.org/obo/HP_0100187							
HP:0100188	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 4th toe		UMLS:C4022233	hp.json	Small end part of middle long bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100188							
HP:0100189	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.	UMLS:C4022232	hp.json	Speckled calcifications in the end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100189							
HP:0100190	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 4th toe		UMLS:C4022231	hp.json	Triangular end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100190							
HP:0100191	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022230	hp.json	Absent end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100191							
HP:0100192	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022229	hp.json	Bracket shaped end part of the innermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100192							
HP:0100193	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022228	hp.json	Cone-shaped end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100193							
HP:0100194	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022227	hp.json	Enlarged end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100194							
HP:0100195	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022226	hp.json	Fragmentation of the end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100195							
HP:0100196	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022225	hp.json	Irregular end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100196							
HP:0100197	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022224	hp.json	Increased bone density of end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100197							
HP:0100198	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 4th toe		UMLS:C4022223	hp.json		http://purl.obolibrary.org/obo/HP_0100198							
HP:0100199	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022222	hp.json	Small end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100199							
HP:0100200	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.	UMLS:C4022221	hp.json	Speckled calcifications in the end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100200							
HP:0100201	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 4th toe		UMLS:C4022220	hp.json	Triangular end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100201							
HP:0100202	biolink:PhenotypicFeature	Absent epiphysis of the distal phalanx of the 5th toe		UMLS:C4022219	hp.json	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	biolink:PhenotypicFeature	Bracket epiphysis of the distal phalanx of the 5th toe		UMLS:C4022218	hp.json	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	biolink:PhenotypicFeature	Cone-shaped epiphysis of the distal phalanx of the 5th toe		UMLS:C4022217	hp.json	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	biolink:PhenotypicFeature	Enlarged epiphysis of the distal phalanx of the 5th toe		UMLS:C4022216	hp.json	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	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the distal phalanx of the 5th toe		UMLS:C4022215	hp.json	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	biolink:PhenotypicFeature	Irregular epiphysis of the distal phalanx of the 5th toe		UMLS:C4022214	hp.json	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	biolink:PhenotypicFeature	Ivory epiphysis of the distal phalanx of the 5th toe		UMLS:C4022213	hp.json	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	biolink:PhenotypicFeature	Pseudoepiphysis of the distal phalanx of the 5th toe		UMLS:C4022212	hp.json		http://purl.obolibrary.org/obo/HP_0100209							
HP:0100210	biolink:PhenotypicFeature	Small epiphysis of the distal phalanx of the 5th toe		UMLS:C4022211	hp.json	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	biolink:PhenotypicFeature	Stippling of the epiphysis of the distal phalanx of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.	UMLS:C4022210	hp.json	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							
HP:0100212	biolink:PhenotypicFeature	Triangular epiphysis of the distal phalanx of the 5th toe		UMLS:C4022209	hp.json	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	biolink:PhenotypicFeature	Absent epiphysis of the middle phalanx of the 5th toe		UMLS:C4022208	hp.json	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	biolink:PhenotypicFeature	Bracket epiphysis of the middle phalanx of the 5th toe		UMLS:C4022207	hp.json	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	biolink:PhenotypicFeature	Cone-shaped epiphysis of the middle phalanx of the 5th toe		UMLS:C4022206	hp.json	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	biolink:PhenotypicFeature	Enlarged epiphysis of the middle phalanx of the 5th toe		UMLS:C4022205	hp.json	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	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the middle phalanx of the 5th toe		UMLS:C4022204	hp.json	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	biolink:PhenotypicFeature	Irregular epiphysis of the middle phalanx of the 5th toe		UMLS:C4022203	hp.json	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	biolink:PhenotypicFeature	Ivory epiphysis of the middle phalanx of the 5th toe		UMLS:C4022202	hp.json	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	biolink:PhenotypicFeature	Pseudoepiphysis of the middle phalanx of the 5th toe		UMLS:C4022201	hp.json		http://purl.obolibrary.org/obo/HP_0100220							
HP:0100221	biolink:PhenotypicFeature	Small epiphysis of the middle phalanx of the 5th toe		UMLS:C4022200	hp.json	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	biolink:PhenotypicFeature	Stippling of the epiphysis of the middle phalanx of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.	UMLS:C4022199	hp.json	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							
HP:0100223	biolink:PhenotypicFeature	Triangular epiphysis of the middle phalanx of the 5th toe		UMLS:C4022198	hp.json	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	biolink:PhenotypicFeature	Absent epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022197	hp.json	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	biolink:PhenotypicFeature	Bracket epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022196	hp.json	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	biolink:PhenotypicFeature	Cone-shaped epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022195	hp.json	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	biolink:PhenotypicFeature	Enlarged epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022194	hp.json	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	biolink:PhenotypicFeature	Fragmentation of the epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022193	hp.json	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	biolink:PhenotypicFeature	Irregular epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022192	hp.json	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	biolink:PhenotypicFeature	Ivory epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022191	hp.json	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	biolink:PhenotypicFeature	Pseudoepiphysis of the proximal phalanx of the 5th toe		UMLS:C4022190	hp.json		http://purl.obolibrary.org/obo/HP_0100231							
HP:0100232	biolink:PhenotypicFeature	Small epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022189	hp.json	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	biolink:PhenotypicFeature	Stippling of the epiphysis of the proximal phalanx of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.	UMLS:C4022188	hp.json	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							
HP:0100234	biolink:PhenotypicFeature	Triangular epiphysis of the proximal phalanx of the 5th toe		UMLS:C4022187	hp.json	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	biolink:PhenotypicFeature	Synostosis involving bones of the toes		UMLS:C4022186	hp.json	Fusion involving bones of the toes	http://purl.obolibrary.org/obo/HP_0100235							
HP:0100237	biolink:PhenotypicFeature	Proximal foot symphalangism		UMLS:C4022185	hp.json		http://purl.obolibrary.org/obo/HP_0100237							
HP:0100238	biolink:PhenotypicFeature	Synostosis involving bones of the upper limbs	An abnormal union between bones or parts of bones of the upper limbs.	UMLS:C4022184	hp.json	Fusion involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0100238							
HP:0100240	biolink:PhenotypicFeature	Synostosis of joints	The abnormal fusion of neighboring bones across a joint.	UMLS:C4022183	hp.json	Fusion of joints|Bony ankylosis	http://purl.obolibrary.org/obo/HP_0100240							
HP:0100241	biolink:PhenotypicFeature	Ectopic respiratory mucosa	Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.	UMLS:C4022182	hp.json		http://purl.obolibrary.org/obo/HP_0100241							
HP:0100242	biolink:PhenotypicFeature	Sarcoma	A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.	MSH:D012509|NCIT:C9118|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424413001|SNOMEDCT_US:424952003|UMLS:C1261473	hp.json	Cancer of connective tissue|Malignant connective tissue tumor|Malignant connective tissue tumour	http://purl.obolibrary.org/obo/HP_0100242							
HP:0100243	biolink:PhenotypicFeature	Leiomyosarcoma	A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.	MSH:D007890|NCIT:C3158|SNOMEDCT_US:443719001|SNOMEDCT_US:51549004|UMLS:C0023269	hp.json		http://purl.obolibrary.org/obo/HP_0100243							
HP:0100244	biolink:PhenotypicFeature	Fibrosarcoma	A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.	MSH:D005354|NCIT:C6605|SNOMEDCT_US:443250000|SNOMEDCT_US:53654007|UMLS:C0016057	hp.json		http://purl.obolibrary.org/obo/HP_0100244							
HP:0100245	biolink:PhenotypicFeature	Desmoid tumors	Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.	MSH:D018222|NCIT:C3042|SNOMEDCT_US:399994005|SNOMEDCT_US:400055004|SNOMEDCT_US:47284001|UMLS:C0079218	hp.json	Desmoid tumours	http://purl.obolibrary.org/obo/HP_0100245							
HP:0100246	biolink:PhenotypicFeature	Osteoma	Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.	MSH:D010016|NCIT:C3296|SNOMEDCT_US:302858007|SNOMEDCT_US:83612000|UMLS:C0029440	hp.json		http://purl.obolibrary.org/obo/HP_0100246							
HP:0100247	biolink:PhenotypicFeature	Recurrent singultus	A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.	MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0019521|UMLS:C0744897	hp.json	Recurrent hiccup|Hiccup|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccups	http://purl.obolibrary.org/obo/HP_0100247							
HP:0100248	biolink:PhenotypicFeature	Hemiballismus	Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.	MSH:D020820|SNOMEDCT_US:66637005|UMLS:C0221169	hp.json	Ballismus	http://purl.obolibrary.org/obo/HP_0100248							
HP:0100249	biolink:PhenotypicFeature	Calcification of muscles	Deposition of calcium salts in muscle tissue.	SNOMEDCT_US:446993003|UMLS:C2960760	hp.json	Skeletal muscle calcinosis	http://purl.obolibrary.org/obo/HP_0100249							
HP:0100250	biolink:PhenotypicFeature	Meningeal calcification	Calcium deposition affecting the Meninges.	UMLS:C4022181	hp.json		http://purl.obolibrary.org/obo/HP_0100250							
HP:0100251	biolink:PhenotypicFeature	Multiple central nervous system lipomas	The presence of mulitple lipomas located in the central nervous system.	NCIT:C3192|UMLS:C4022180	hp.json	Lipomas of the central nervous system	http://purl.obolibrary.org/obo/HP_0100251							
HP:0100252	biolink:PhenotypicFeature	Diaphyseal dysplasia		MSH:D003966|SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|UMLS:C0011989	hp.json		http://purl.obolibrary.org/obo/HP_0100252							
HP:0100253	biolink:PhenotypicFeature	Abnormality of the medullary cavity of the long bones	An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.	UMLS:C4021027	hp.json	Abnormality of the marrow cavity of the long bones	http://purl.obolibrary.org/obo/HP_0100253							
HP:0100254	biolink:PhenotypicFeature	Stenosis of the medullary cavity of the long bones		UMLS:C4022179	hp.json		http://purl.obolibrary.org/obo/HP_0100254							
HP:0100255	biolink:PhenotypicFeature	Metaphyseal dysplasia	The presence of dysplastic regions in metaphyseal regions.	MSH:C536252|SNOMEDCT_US:27837003|UMLS:C0265294	hp.json		http://purl.obolibrary.org/obo/HP_0100255							
HP:0100256	biolink:PhenotypicFeature	Senile plaques	Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.	MSH:D058225|SNOMEDCT_US:38551001|UMLS:C0333463	hp.json	Braindruse|Neuritic plaques|Senile druse	http://purl.obolibrary.org/obo/HP_0100256							
HP:0100257	biolink:PhenotypicFeature	Ectrodactyly	A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.	MSH:C574275|SNOMEDCT_US:13624003|SNOMEDCT_US:81208006|UMLS:C0265554	hp.json	Cleft hand|Lobster claw hand	http://purl.obolibrary.org/obo/HP_0100257							hposlim_core
HP:0100258	biolink:PhenotypicFeature	Preaxial polydactyly	A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.	SNOMEDCT_US:205135003|UMLS:C0345354	hp.json	Polydactyly, preaxial	http://purl.obolibrary.org/obo/HP_0100258							
HP:0100259	biolink:PhenotypicFeature	Postaxial polydactyly	A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.	MSH:C562429|UMLS:C0220697	hp.json	Polydactyly, postaxial|Postaxial hexadactyly	http://purl.obolibrary.org/obo/HP_0100259							
HP:0100260	biolink:PhenotypicFeature	Mesoaxial polydactyly	The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.	UMLS:C1848595|UMLS:C4020689	hp.json	Central polydactyly|Intercalary polydactyly|Insertional polydactyly	http://purl.obolibrary.org/obo/HP_0100260							
HP:0100261	biolink:PhenotypicFeature	Abnormal tendon morphology	An abnormality of the structure or form of the tendons, also often called sinews.	UMLS:C4021026	hp.json	Abnormal shape of tendon|Abnormality of the sinew	http://purl.obolibrary.org/obo/HP_0100261							
HP:0100262	biolink:PhenotypicFeature	Synostosis involving digits		UMLS:C4022178	hp.json	Fusion involving digits	http://purl.obolibrary.org/obo/HP_0100262							
HP:0100263	biolink:PhenotypicFeature	Distal symphalangism		MSH:C566099|UMLS:C1861401	hp.json	Symphalangism, distal	http://purl.obolibrary.org/obo/HP_0100263							
HP:0100264	biolink:PhenotypicFeature	Proximal symphalangism		MSH:C536223|UMLS:C1861385	hp.json	Cushing's symphalangism	http://purl.obolibrary.org/obo/HP_0100264							
HP:0100265	biolink:PhenotypicFeature	Synostosis of metacarpals/metatarsals		UMLS:C4022177	hp.json	Fusion of long bones of hand/long bones of foot	http://purl.obolibrary.org/obo/HP_0100265							
HP:0100266	biolink:PhenotypicFeature	Synostosis of carpals/tarsals	The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.	UMLS:C4021025	hp.json	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							
HP:0100267	biolink:PhenotypicFeature	Lip pit	A depression located on a lip.	UMLS:C0341059	hp.json		http://purl.obolibrary.org/obo/HP_0100267							hposlim_core
HP:0100268	biolink:PhenotypicFeature	Upper lip pit	Depression located on the vermilion of the upper lip, usually paramedian.	UMLS:C4022176	hp.json		http://purl.obolibrary.org/obo/HP_0100268							
HP:0100269	biolink:PhenotypicFeature	Paramedian lip pit	Depression located paramedially on the vermilion of a lip.	UMLS:C4022175	hp.json	Paramedian labial pits	http://purl.obolibrary.org/obo/HP_0100269							
HP:0100270	biolink:PhenotypicFeature	Abnormality of dorsoventral patterning of the limbs	An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.	UMLS:C4022174	hp.json		http://purl.obolibrary.org/obo/HP_0100270							
HP:0100271	biolink:PhenotypicFeature	Hyponasal speech	Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.	UMLS:C4022173	hp.json		http://purl.obolibrary.org/obo/HP_0100271							
HP:0100272	biolink:PhenotypicFeature	Branchial sinus	A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.	SNOMEDCT_US:253259008|UMLS:C0266624	hp.json	Branchial cleft sinus	http://purl.obolibrary.org/obo/HP_0100272							
HP:0100273	biolink:PhenotypicFeature	Neoplasm of the colon		MSH:D003110|NCIT:C3262|SNOMEDCT_US:126838000|UMLS:C0009375	hp.json	Colon tumor|Colon tumour	http://purl.obolibrary.org/obo/HP_0100273							
HP:0100274	biolink:PhenotypicFeature	Gustatory lacrimation	Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.	UMLS:C1862052	hp.json		http://purl.obolibrary.org/obo/HP_0100274							
HP:0100275	biolink:PhenotypicFeature	Diffuse cerebellar atrophy	Diffuse unlocalised atrophy affecting the cerebellum.	UMLS:C1854699	hp.json		http://purl.obolibrary.org/obo/HP_0100275							
HP:0100276	biolink:PhenotypicFeature	Skin pit	A small, skin-lined tract that leads from the surface to deep within the tissues.	UMLS:C4020712|UMLS:C4022172	hp.json	Skin pit|Skin pits	http://purl.obolibrary.org/obo/HP_0100276							
HP:0100277	biolink:PhenotypicFeature	Periauricular skin pits	Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.	UMLS:C4022171	hp.json	Pits around the ear|Periauricular earpits|Periauricular fistulas|Periauricular pits|Periauricular sinus	http://purl.obolibrary.org/obo/HP_0100277							
HP:0100279	biolink:PhenotypicFeature	Ulcerative colitis	A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.	MSH:D003093|SNOMEDCT_US:64766004|UMLS:C0009324	hp.json	Colitis ulcerosa	http://purl.obolibrary.org/obo/HP_0100279							
HP:0100280	biolink:PhenotypicFeature	Crohn's disease	A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.	MSH:D003424|SNOMEDCT_US:34000006|UMLS:C0010346	hp.json	Granulomatous enteritis and colitis|Morbus Crohn	http://purl.obolibrary.org/obo/HP_0100280							
HP:0100281	biolink:PhenotypicFeature	Chronic colitis	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).	SNOMEDCT_US:54597004|UMLS:C0267375	hp.json		http://purl.obolibrary.org/obo/HP_0100281							
HP:0100282	biolink:PhenotypicFeature	Acute colitis	An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).	UMLS:C2118460	hp.json		http://purl.obolibrary.org/obo/HP_0100282							
HP:0100283	biolink:PhenotypicFeature	EMG: continuous motor unit activity at rest	Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.	UMLS:C4022170	hp.json		http://purl.obolibrary.org/obo/HP_0100283							
HP:0100284	biolink:PhenotypicFeature	EMG: myotonic discharges	High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.	UMLS:C4022169	hp.json		http://purl.obolibrary.org/obo/HP_0100284							
HP:0100285	biolink:PhenotypicFeature	EMG: impaired neuromuscular transmission	An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).	UMLS:C4022168	hp.json		http://purl.obolibrary.org/obo/HP_0100285							
HP:0100287	biolink:PhenotypicFeature	EMG: slow motor conduction	The presence of reduced conduction velocity of motor nerves on electromyography.	UMLS:C4022167	hp.json		http://purl.obolibrary.org/obo/HP_0100287							
HP:0100288	biolink:PhenotypicFeature	EMG: myokymic discharges	The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.	UMLS:C4022166	hp.json		http://purl.obolibrary.org/obo/HP_0100288							
HP:0100289	biolink:PhenotypicFeature	Abnormality of pattern reversal visual evoked potentials		UMLS:C4022165	hp.json	Abnormality of pattern reversal VEP	http://purl.obolibrary.org/obo/HP_0100289							
HP:0100290	biolink:PhenotypicFeature	Abnormality of peripheral somatosensory evoked potentials		UMLS:C4022164	hp.json		http://purl.obolibrary.org/obo/HP_0100290							
HP:0100291	biolink:PhenotypicFeature	Abnormality of central somatosensory evoked potentials		UMLS:C4022163	hp.json		http://purl.obolibrary.org/obo/HP_0100291							
HP:0100292	biolink:PhenotypicFeature	Amyloidosis of peripheral nerves	The presence of amyloid deposition in the nerves of the peripheral nervous system.	UMLS:C4022162	hp.json		http://purl.obolibrary.org/obo/HP_0100292							
HP:0100293	biolink:PhenotypicFeature	Muscle fiber hypertrophy		SNOMEDCT_US:42091004|UMLS:C0333759	hp.json	Muscle fibre hypertrophy	http://purl.obolibrary.org/obo/HP_0100293							
HP:0100295	biolink:PhenotypicFeature	Muscle fiber atrophy		SNOMEDCT_US:67867005|UMLS:C0333751	hp.json	Muscle fiber degeneration|Muscle fibre degeneration|Muscle fibre atrophy	http://purl.obolibrary.org/obo/HP_0100295							
HP:0100296	biolink:PhenotypicFeature	Perifascicular muscle fiber atrophy		SNOMEDCT_US:87196003|UMLS:C0333757	hp.json	Perifascicular muscle fibre atrophy	http://purl.obolibrary.org/obo/HP_0100296							
HP:0100297	biolink:PhenotypicFeature	Increased endomysial connective tissue	An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.	UMLS:C4022161	hp.json		http://purl.obolibrary.org/obo/HP_0100297							
HP:0100298	biolink:PhenotypicFeature	Motheaten muscle fibers		UMLS:C4022160	hp.json	Motheaten muscle fibres	http://purl.obolibrary.org/obo/HP_0100298							
HP:0100299	biolink:PhenotypicFeature	Muscle fiber inclusion bodies		UMLS:C4022159	hp.json	Muscle fibre inclusion bodies	http://purl.obolibrary.org/obo/HP_0100299							
HP:0100300	biolink:PhenotypicFeature	Desmin bodies		UMLS:C4022158	hp.json		http://purl.obolibrary.org/obo/HP_0100300							
HP:0100301	biolink:PhenotypicFeature	Muscle fiber tubular inclusions	Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.	UMLS:C4021024	hp.json	Muscle fibre tubular aggregates|Muscle fibre tubular inclusions|Muscle fiber tubular aggregates	http://purl.obolibrary.org/obo/HP_0100301							
HP:0100302	biolink:PhenotypicFeature	Muscle fiber tubuloreticular inclusions		UMLS:C4021023	hp.json	Muscle fibre tubuloreticular aggregates|Muscle fibre tubuloreticular inclusions|Muscle fiber tubuloreticular aggregates	http://purl.obolibrary.org/obo/HP_0100302							
HP:0100303	biolink:PhenotypicFeature	Muscle fiber cytoplasmatic inclusion bodies	The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	UMLS:C4022157	hp.json	Muscle fibre cytoplasmatic inclusion bodies|Muscle fibre cytoplasmic bodies|Muscle fiber cytoplasmic bodies	http://purl.obolibrary.org/obo/HP_0100303							
HP:0100304	biolink:PhenotypicFeature	Muscle fiber intranuclear inclusion bodies	The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	UMLS:C4022156	hp.json	Muscle fibre intranuclear inclusion bodies	http://purl.obolibrary.org/obo/HP_0100304							
HP:0100305	biolink:PhenotypicFeature	Ring fibers	Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.	SNOMEDCT_US:47913008|UMLS:C0333770	hp.json	Ring fibres	http://purl.obolibrary.org/obo/HP_0100305							
HP:0100306	biolink:PhenotypicFeature	Muscle fiber hyaline bodies		UMLS:C4022155	hp.json	Muscle fibre hyaline bodies	http://purl.obolibrary.org/obo/HP_0100306							
HP:0100307	biolink:PhenotypicFeature	Cerebellar hemisphere hypoplasia		UMLS:C4022154	hp.json		http://purl.obolibrary.org/obo/HP_0100307							
HP:0100308	biolink:PhenotypicFeature	Cerebral cortical hemiatrophy	Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.	UMLS:C4022153	hp.json		http://purl.obolibrary.org/obo/HP_0100308							
HP:0100309	biolink:PhenotypicFeature	Subdural hemorrhage	Hemorrhage occurring between the dura mater and the arachnoid mater.	MSH:D006408|SNOMEDCT_US:35486000|SNOMEDCT_US:95453001|UMLS:C0018946	hp.json	Subdural haemorrhage|Subdural haematoma|Subdural hematoma	http://purl.obolibrary.org/obo/HP_0100309							
HP:0100310	biolink:PhenotypicFeature	Epidural hemorrhage	Hemorrhage occurring between the dura mater and the skull.	MSH:D006407|SNOMEDCT_US:428268007|SNOMEDCT_US:82999001|UMLS:C0238154	hp.json	Epidural haemorrhage|Epidural haematoma|Epidural hematoma|Extradural haematoma|Extradural hematoma	http://purl.obolibrary.org/obo/HP_0100310							
HP:0100311	biolink:PhenotypicFeature	Cerebral ventricular adhesions	Bands of scar-like tisssue that hve formed within a cerebral ventricle.	UMLS:C4022152	hp.json		http://purl.obolibrary.org/obo/HP_0100311							
HP:0100312	biolink:PhenotypicFeature	Cerebral germinoma	The presence of a germ cell tumor of the cerebrum.	NCIT:C3708|UMLS:C4022151	hp.json		http://purl.obolibrary.org/obo/HP_0100312							
HP:0100313	biolink:PhenotypicFeature	Cerebral granulomatosis	Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.	UMLS:C4022150	hp.json		http://purl.obolibrary.org/obo/HP_0100313							
HP:0100314	biolink:PhenotypicFeature	Cerebral inclusion bodies	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.	UMLS:C4022149	hp.json		http://purl.obolibrary.org/obo/HP_0100314							
HP:0100315	biolink:PhenotypicFeature	Lewy bodies		MSH:D016631|MSH:D020961|SNOMEDCT_US:312991009|SNOMEDCT_US:43127003|SNOMEDCT_US:80098002|UMLS:C0085200|UMLS:C0752347	hp.json	Lewy body disease	http://purl.obolibrary.org/obo/HP_0100315							
HP:0100316	biolink:PhenotypicFeature	Hirano bodies	Intracellular aggregates of actin and actin-associated proteins within nerve cells.	SNOMEDCT_US:57458003|UMLS:C0521178	hp.json		http://purl.obolibrary.org/obo/HP_0100316							
HP:0100317	biolink:PhenotypicFeature	Argyrophilic inclusion bodies	Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.	UMLS:C4021022	hp.json	Agyrophilic inclusion bodies|Pick inclusion bodies	http://purl.obolibrary.org/obo/HP_0100317							
HP:0100318	biolink:PhenotypicFeature	Lafora bodies	An intraneuronal inclusion body composed of acid mucopolysaccharides.	SNOMEDCT_US:87554006|UMLS:C0333749	hp.json		http://purl.obolibrary.org/obo/HP_0100318							
HP:0100319	biolink:PhenotypicFeature	Cerebral hyaline bodies	Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.	UMLS:C4021021	hp.json	Cerebral colloid bodies	http://purl.obolibrary.org/obo/HP_0100319							
HP:0100320	biolink:PhenotypicFeature	Rosenthal fibers	Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.	SNOMEDCT_US:84605001|UMLS:C0333731	hp.json	Rosenthal fibres	http://purl.obolibrary.org/obo/HP_0100320							
HP:0100321	biolink:PhenotypicFeature	Abnormal dentate nucleus morphology	An abnormality of the dentate nucleus.	UMLS:C4022148	hp.json	Abnormality of the dentate nucleus	http://purl.obolibrary.org/obo/HP_0100321							
HP:0100322	biolink:PhenotypicFeature	Aplasia of the pyramidal tract		UMLS:C4022147	hp.json	Absent pyramidal tract	http://purl.obolibrary.org/obo/HP_0100322							
HP:0100323	biolink:PhenotypicFeature	Juvenile aseptic necrosis	Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.	UMLS:C4020710|UMLS:C4022146	hp.json	Aseptic epiphyseal necrosis	http://purl.obolibrary.org/obo/HP_0100323							
HP:0100324	biolink:PhenotypicFeature	Scleroderma	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.	MSH:D012594|SNOMEDCT_US:403524003|SNOMEDCT_US:89155008|UMLS:C0011644|UMLS:C1274865	hp.json	Progressive systemic scleroderma|Pseudoscleroderma	http://purl.obolibrary.org/obo/HP_0100324							
HP:0100326	biolink:PhenotypicFeature	Immunologic hypersensitivity	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.	UMLS:C0237653	hp.json		http://purl.obolibrary.org/obo/HP_0100326							
HP:0100327	biolink:PhenotypicFeature	Cow milk allergy	Hypersensitivity in form of an adverse immune reaction against cow milk protein.	SNOMEDCT_US:15911003|UMLS:C0266815	hp.json	Cow milk allergy|Milk allergy|IgE-mediated cow milk allergy|Immunoglobulin E-mediated cow milk allergy	http://purl.obolibrary.org/obo/HP_0100327							
HP:0100328	biolink:PhenotypicFeature	Carpometacarpal synostosis	Fusion involving carpal and metacarpal bones.	UMLS:C4022145	hp.json	Fused wrist bones and long bones of hand	http://purl.obolibrary.org/obo/HP_0100328							
HP:0100329	biolink:PhenotypicFeature	Tarsometatarsal synostosis		UMLS:C4022144	hp.json	Fused bones of the midfoot	http://purl.obolibrary.org/obo/HP_0100329							
HP:0100333	biolink:PhenotypicFeature	Unilateral cleft lip	A non-midline cleft of the upper lip on one side only.	SNOMEDCT_US:304067009|UMLS:C0392006	hp.json	One sided cleft upper lip|Unilateral cheiloschisis|Unilateral cleft upper lip	http://purl.obolibrary.org/obo/HP_0100333							
HP:0100334	biolink:PhenotypicFeature	Unilateral cleft palate		UMLS:C4022143	hp.json	One sided cleft palate|Unilateral palatoschisis	http://purl.obolibrary.org/obo/HP_0100334							
HP:0100335	biolink:PhenotypicFeature	Non-midline cleft lip	Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.	UMLS:C4021020	hp.json	Non-midline cleft of the upper lip|Paramedian cleft of the upper lip	http://purl.obolibrary.org/obo/HP_0100335							
HP:0100336	biolink:PhenotypicFeature	Bilateral cleft lip	A non-midline cleft of the upper lip on the left and right sides.	SNOMEDCT_US:304068004|UMLS:C0392005	hp.json	Both sided cleft lip|Right and left cleft lip|Bilateral cheiloschisis	http://purl.obolibrary.org/obo/HP_0100336							hposlim_core
HP:0100337	biolink:PhenotypicFeature	Bilateral cleft palate	Nonmidline cleft palate on the left and right sides.	UMLS:C3553084	hp.json	Right and left cleft palate|Bilateral palatoschisis	http://purl.obolibrary.org/obo/HP_0100337							hposlim_core
HP:0100338	biolink:PhenotypicFeature	Non-midline cleft palate		UMLS:C4022142	hp.json	Paramedian cleft palate	http://purl.obolibrary.org/obo/HP_0100338							
HP:0100339	biolink:PhenotypicFeature	Abnormality of the os naviculare pedis		UMLS:C4022141	hp.json		http://purl.obolibrary.org/obo/HP_0100339							
HP:0100340	biolink:PhenotypicFeature	Fibular deviation of the 4th toe		UMLS:C4022140	hp.json		http://purl.obolibrary.org/obo/HP_0100340							
HP:0100341	biolink:PhenotypicFeature	Tibial deviation of the 4th toe		UMLS:C4022139	hp.json		http://purl.obolibrary.org/obo/HP_0100341							
HP:0100342	biolink:PhenotypicFeature	Fibular deviation of the 3rd toe		UMLS:C4022138	hp.json		http://purl.obolibrary.org/obo/HP_0100342							
HP:0100343	biolink:PhenotypicFeature	Tibial deviation of the 3rd toe		UMLS:C4022137	hp.json		http://purl.obolibrary.org/obo/HP_0100343							
HP:0100344	biolink:PhenotypicFeature	Fibular deviation of the 2nd toe		UMLS:C4022136	hp.json		http://purl.obolibrary.org/obo/HP_0100344							
HP:0100345	biolink:PhenotypicFeature	Tibial deviation of the 2nd toe		UMLS:C4022135	hp.json		http://purl.obolibrary.org/obo/HP_0100345							
HP:0100346	biolink:PhenotypicFeature	Fibular deviation of the 5th toe		UMLS:C4022134	hp.json		http://purl.obolibrary.org/obo/HP_0100346							
HP:0100347	biolink:PhenotypicFeature	Tibial deviation of the 5th toe		UMLS:C4022133	hp.json		http://purl.obolibrary.org/obo/HP_0100347							
HP:0100348	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 2nd toe	The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.	UMLS:C4021019	hp.json	Camptodactyly of the 2nd toe|Camptodactyly of the second toe	http://purl.obolibrary.org/obo/HP_0100348							
HP:0100349	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 3rd toe	The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.	UMLS:C4021018	hp.json	Camptodactyly of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100349							
HP:0100350	biolink:PhenotypicFeature	Contracture of the proximal interphalangeal joint of the 4th toe	The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.	UMLS:C4021017	hp.json	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							
HP:0100351	biolink:PhenotypicFeature	Contractures of the proximal interphalangeal joint of the 5th toe	The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.	UMLS:C4021016	hp.json	Camptodactyly of the 5th toe|Camptodactyly of the fifth toe	http://purl.obolibrary.org/obo/HP_0100351							
HP:0100352	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 2nd toe	The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.	UMLS:C4021015	hp.json	Contracture of the distal interphalangeal joint of the second toe	http://purl.obolibrary.org/obo/HP_0100352							
HP:0100353	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 3rd toe	The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.	UMLS:C4022132	hp.json		http://purl.obolibrary.org/obo/HP_0100353							
HP:0100354	biolink:PhenotypicFeature	Contracture of the distal interphalangeal joint of the 4th toe	The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.	UMLS:C4022131	hp.json		http://purl.obolibrary.org/obo/HP_0100354							
HP:0100355	biolink:PhenotypicFeature	Contractures of the distal interphalangeal joint of the 5th toe	The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.	UMLS:C4022130	hp.json	Contracture of the outermost hinge joint of the 5th toe	http://purl.obolibrary.org/obo/HP_0100355							
HP:0100356	biolink:PhenotypicFeature	Contracture of the metatarsophalangeal joint of the 2nd toe	The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.	UMLS:C4022129	hp.json		http://purl.obolibrary.org/obo/HP_0100356							
HP:0100357	biolink:PhenotypicFeature	Contracture of the metatarsophalangeal joint of the 3rd toe	The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.	UMLS:C4022128	hp.json		http://purl.obolibrary.org/obo/HP_0100357							
HP:0100358	biolink:PhenotypicFeature	Contracture of the metatarsophalangeal joint of the 4th toe	The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.	UMLS:C4022127	hp.json		http://purl.obolibrary.org/obo/HP_0100358							
HP:0100359	biolink:PhenotypicFeature	Contracture of the metatarsophalangeal joint of the 5th toe	The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.	UMLS:C4022126	hp.json		http://purl.obolibrary.org/obo/HP_0100359							
HP:0100360	biolink:PhenotypicFeature	Contractures of the joints of the upper limbs		UMLS:C2750635	hp.json		http://purl.obolibrary.org/obo/HP_0100360							
HP:0100362	biolink:PhenotypicFeature	Aplasia of the phalanges of the 3rd toe		UMLS:C4022125	hp.json	Absent digital bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100362							
HP:0100363	biolink:PhenotypicFeature	Aplasia of the phalanges of the 4th toe		UMLS:C4022124	hp.json	Absent bones of the 4th toe	http://purl.obolibrary.org/obo/HP_0100363							
HP:0100364	biolink:PhenotypicFeature	Aplasia of the phalanges of the 5th toe		UMLS:C4022123	hp.json	Absent little toe bones|Absent pinkie toe bones|Absent pinky toe bones	http://purl.obolibrary.org/obo/HP_0100364							
HP:0100366	biolink:PhenotypicFeature	Short phalanx of the 3rd toe	Developmental hypoplasia of the phalanx of third toe.	UMLS:C4021014	hp.json	Short 3rd toe bone|Hypoplastic/small phalanges of the 3rd toe|Short phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100366							
HP:0100367	biolink:PhenotypicFeature	Short phalanx of the 4th toe	Developmental hypoplasia of one or more phalanx of fourth toe.	UMLS:C4021013	hp.json	Short 4th toe bone|Hypoplastic/small phalanges of the 4th toe|Short phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100367							
HP:0100368	biolink:PhenotypicFeature	Short phalanx of the 5th toe	Developmental hypoplasia of one or more phalanx of little toe.	UMLS:C4021012	hp.json	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							
HP:0100369	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe		UMLS:C4022122	hp.json	Absent/small outermost 3rd toe bone|Absent/underdeveloped outermost 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100369							
HP:0100370	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 4th toe		UMLS:C4022121	hp.json	Absent/small outermost bone of 4th toe|Absent/underdeveloped outermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100370							
HP:0100371	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the distal phalanx of the 5th toe		UMLS:C4022120	hp.json	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	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe		UMLS:C4022119	hp.json	Absent/small middle 3rd toe bone|Absent/underdeveloped middle 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100372							
HP:0100373	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 4th toe		UMLS:C4022118	hp.json	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	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the middle phalanx of the 5th toe		UMLS:C4022117	hp.json	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	biolink:PhenotypicFeature	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe.	UMLS:C4022116	hp.json	Absent/small innermost bone of 3rd toe|Absent/underdeveloped innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100375							
HP:0100376	biolink:PhenotypicFeature	Aplasia/hypoplasia of the proximal phalanx of the 4th toe	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe.	UMLS:C4022115	hp.json	Absent/small innermost 4th toe bone|Absent/underdeveloped innermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0100376							
HP:0100377	biolink:PhenotypicFeature	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe.	UMLS:C4022114	hp.json	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							
HP:0100378	biolink:PhenotypicFeature	Absent distal phalanx of the 3rd toe	Developmental aplasia of the distal phalanx of third toe.	UMLS:C4021011	hp.json	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							
HP:0100379	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the 4th toe		UMLS:C4022113	hp.json	Absent outermost bone of the 4th toe|Absent distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100379							
HP:0100380	biolink:PhenotypicFeature	Aplasia of the distal phalanx of the 5th toe		UMLS:C4022112	hp.json	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	biolink:PhenotypicFeature	Absent middle phalanx of the 3rd toe	Developmental aplasia of the middle phalanx of third toe.	UMLS:C4021010	hp.json	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							
HP:0100382	biolink:PhenotypicFeature	Aplasia of the middle phalanx of the 4th toe		UMLS:C4022111	hp.json	Absent middle bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100382							
HP:0100383	biolink:PhenotypicFeature	Aplasia of the middle phalanx of the 5th toe		UMLS:C4022110	hp.json	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	biolink:PhenotypicFeature	Absent proximal phalanx of the 3rd toe	Absence of proximal phalanx of third toe, owing to a congenital defect of development.	UMLS:C4021009	hp.json	Absent innermost bone of the 3rd toe|Aplasia of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100384							
HP:0100385	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 4th toe		UMLS:C4022109	hp.json	Absent innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100385							
HP:0100386	biolink:PhenotypicFeature	Aplasia of the proximal phalanx of the 5th toe		UMLS:C4022108	hp.json	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	biolink:PhenotypicFeature	Aplasia of the middle phalanges of the toes		UMLS:C4022107	hp.json	Absent middle toe bones	http://purl.obolibrary.org/obo/HP_0100387							
HP:0100388	biolink:PhenotypicFeature	Aplasia of the proximal phalanges of the toes		UMLS:C4022106	hp.json	Absent innermost toe bones	http://purl.obolibrary.org/obo/HP_0100388							
HP:0100389	biolink:PhenotypicFeature	Short distal phalanx of the 3rd toe	Developmental hypoplasia of the distal phalanx of third toe.	UMLS:C4021008	hp.json	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							
HP:0100390	biolink:PhenotypicFeature	Short distal phalanx of the 4th toe	Developmental hypoplasia of the distal phalanx of fourth toe.	UMLS:C4021007	hp.json	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							
HP:0100391	biolink:PhenotypicFeature	Short distal phalanx of the 5th toe	Developmental hypoplasia of the distal phalanx of little toe.	UMLS:C4021006	hp.json	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							
HP:0100392	biolink:PhenotypicFeature	Short middle phalanx of the 3rd toe	Developmental hypoplasia of the middle phalanx of third toe.	UMLS:C4021005	hp.json	Hypoplastic/small middle phalanx of the 3rd toe|Short middle phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100392							
HP:0100393	biolink:PhenotypicFeature	Short middle phalanx of the 4th toe	Developmental hypoplasia of the middle phalanx of fourth toe.	UMLS:C4021004	hp.json	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							
HP:0100394	biolink:PhenotypicFeature	Short middle phalanx of the 5th toe	Developmental hypoplasia of the middle phalanx of the 5th toe.	UMLS:C4021003	hp.json	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							
HP:0100395	biolink:PhenotypicFeature	Short proximal phalanx of the 3rd toe	Abnormal reduction in length of proximal phalanx of third toe.	UMLS:C4021002	hp.json	Hypoplastic/small proximal phalanx of the 3rd toe|Short proximal phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100395							
HP:0100396	biolink:PhenotypicFeature	Short proximal phalanx of the 4th toe	Developmental hypoplasia of the proximal phalanx of fourth toe.	UMLS:C4021001	hp.json	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							
HP:0100397	biolink:PhenotypicFeature	Short proximal phalanx of the 5th toe	Developmental hypoplasia of the proximal phalanx of fifth toe.	UMLS:C4021000	hp.json	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							
HP:0100398	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 3rd toe	Partial or complete duplication of distal phalanx of third toe.	UMLS:C4020999	hp.json	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							
HP:0100399	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 4th toe	Partial or complete duplication of the distal phalanx of fourth toe.	UMLS:C4020998	hp.json	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							
HP:0100400	biolink:PhenotypicFeature	Duplication of the distal phalanx of the 5th toe	Partial or complete duplication of the distal phalanx of little toe.	UMLS:C4020997	hp.json	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							
HP:0100401	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 3rd toe	Partial or complete duplication of middle phalanx of third toe.	UMLS:C4020996	hp.json	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							
HP:0100402	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 4th toe	Partial or complete duplication of middle phalanx of fourth toe.	UMLS:C4020995	hp.json	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							
HP:0100403	biolink:PhenotypicFeature	Duplication of the middle phalanx of the 5th toe	Partial or complete duplication of the middle phalanx of the 5th toe.	UMLS:C4020994	hp.json	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							
HP:0100404	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 3rd toe	Partial or complete duplication of proximal phalanx of third toe.	UMLS:C4020993	hp.json	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							
HP:0100405	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 4th toe	Partial or complete duplication of the proximal phalanx of fourth toe.	UMLS:C4020992	hp.json	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							
HP:0100406	biolink:PhenotypicFeature	Duplication of the proximal phalanx of the 5th toe	Partial or complete duplication of the proximal phalanx of fifth toe.	UMLS:C4020991	hp.json	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							
HP:0100407	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 3rd toe	Complete duplication of distal phalanx of third toe.	UMLS:C4020990	hp.json	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							
HP:0100408	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 4th toe	Complete duplication of the distal phalanx of fourth toe.	UMLS:C4020989	hp.json	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							
HP:0100409	biolink:PhenotypicFeature	Complete duplication of the distal phalanx of the 5th toe	Complete duplication of the distal phalanx of little toe.	UMLS:C4020988	hp.json	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							
HP:0100410	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 3rd toe	Complete duplication of middle phalanx of third toe.	UMLS:C4020987	hp.json	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							
HP:0100411	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 4th toe	Complete duplication of middle phalanx of fourth toe.	UMLS:C4020986	hp.json	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							
HP:0100412	biolink:PhenotypicFeature	Complete duplication of the middle phalanx of the 5th toe	Complete duplication of the middle phalanx of the 5th toe.	UMLS:C4020985	hp.json	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							
HP:0100413	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 3rd toe	Complete duplication of proximal phalanx of third toe.	UMLS:C4022105	hp.json	Complete duplication of the innermost 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100413							
HP:0100414	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 4th toe		UMLS:C4022104	hp.json	Complete duplication of the innermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0100414							
HP:0100415	biolink:PhenotypicFeature	Complete duplication of the proximal phalanx of the 5th toe	Complete duplication of the proximal phalanx of fifth toe.	UMLS:C4020984	hp.json	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							
HP:0100416	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 3rd toe	Partial duplication of distal phalanx of third toe.	UMLS:C4020983	hp.json	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							
HP:0100417	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 4th toe	Partial duplication of the distal phalanx of fourth toe.	UMLS:C4020982	hp.json	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							
HP:0100418	biolink:PhenotypicFeature	Partial duplication of the distal phalanx of the 5th toe	Partial duplication of the distal phalanx of little toe.	UMLS:C4020981	hp.json	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							
HP:0100419	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 3rd toe	Partial duplication of middle phalanx of third toe.	UMLS:C4020980	hp.json	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							
HP:0100420	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 4th toe	Partial duplication of middle phalanx of fourth toe.	UMLS:C4020979	hp.json	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							
HP:0100421	biolink:PhenotypicFeature	Partial duplication of the middle phalanx of the 5th toe	Partial duplication of the middle phalanx of the 5th toe.	UMLS:C4020978	hp.json	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							
HP:0100422	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 3rd toe	Partial duplication of proximal phalanx of third toe.	UMLS:C4020977	hp.json	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							
HP:0100423	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 4th toe		UMLS:C4022103	hp.json	Partial duplication of the innermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100423							
HP:0100424	biolink:PhenotypicFeature	Partial duplication of the proximal phalanx of the 5th toe	Partial duplication of the proximal phalanx of fifth toe.	UMLS:C4020976	hp.json	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							
HP:0100425	biolink:PhenotypicFeature	Broad middle phalanx of the 3rd toe		UMLS:C4022102	hp.json	Broad middle 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100425							
HP:0100426	biolink:PhenotypicFeature	Broad middle phalanx of the 4th toe		UMLS:C4022101	hp.json	Broad middle 4th toe bone	http://purl.obolibrary.org/obo/HP_0100426							
HP:0100427	biolink:PhenotypicFeature	Broad middle phalanx of the 5th toe		UMLS:C4022100	hp.json	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	biolink:PhenotypicFeature	Broad proximal phalanx of the 3rd toe		UMLS:C4022099	hp.json	Wide innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100428							
HP:0100429	biolink:PhenotypicFeature	Broad proximal phalanx of the 4th toe		UMLS:C4022098	hp.json	Wide innermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100429							
HP:0100430	biolink:PhenotypicFeature	Broad proximal phalanx of the 5th toe		UMLS:C4022097	hp.json	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	biolink:PhenotypicFeature	Broad distal phalanx of the 3rd toe		UMLS:C4022096	hp.json	Broad outermost bone of the 3rd toe|Wide outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100431							
HP:0100432	biolink:PhenotypicFeature	Broad distal phalanx of the 4th toe		UMLS:C4022095	hp.json	Broad outermost bone of the 4th toe|Wide outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100432							
HP:0100433	biolink:PhenotypicFeature	Broad distal phalanx of the 5th toe		UMLS:C4022094	hp.json	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	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 3rd toe	An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022093	hp.json	Bullet-shaped middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100434							
HP:0100435	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 4th toe	An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022092	hp.json	Bullet-shaped middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100435							
HP:0100436	biolink:PhenotypicFeature	Bullet-shaped middle phalanx of the 5th toe	An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022091	hp.json	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							
HP:0100437	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 3rd toe	An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022090	hp.json	Bullet-shaped proximal bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100437							
HP:0100438	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 4th toe	An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022089	hp.json	Bullet-shaped proximal bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100438							
HP:0100439	biolink:PhenotypicFeature	Bullet-shaped proximal phalanx of the 5th toe	An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022088	hp.json	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							
HP:0100440	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 3rd toe	An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022087	hp.json	Bullet-shaped outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100440							
HP:0100441	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 4th toe	An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022086	hp.json	Bullet-shaped outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100441							
HP:0100442	biolink:PhenotypicFeature	Bullet-shaped distal phalanx of the 5th toe	An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.	UMLS:C4022085	hp.json	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							
HP:0100443	biolink:PhenotypicFeature	Curved middle phalanx of the 3rd toe	A deviation from the normal straight form of the middle phalanx of the third toe.	UMLS:C4022084	hp.json	Curved middle bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100443							
HP:0100444	biolink:PhenotypicFeature	Curved middle phalanx of the 4th toe	A deviation from the normal straight form of the middle phalanx of the fourth toe.	UMLS:C4022083	hp.json	Curved middle bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100444							
HP:0100445	biolink:PhenotypicFeature	Curved middle phalanx of the 5th toe	A deviation from the normal straight form of the middle phalanx of the fifth toe.	UMLS:C4022082	hp.json	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							
HP:0100446	biolink:PhenotypicFeature	Curved proximal phalanx of the 3rd toe	A deviation from the normal straight form of the proximal phalanx of the third toe.	UMLS:C4022081	hp.json	Curved innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100446							
HP:0100447	biolink:PhenotypicFeature	Curved proximal phalanx of the 4th toe	A deviation from the normal straight form of the proximal phalanx of the fourth toe.	UMLS:C4022080	hp.json	Curved innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100447							
HP:0100448	biolink:PhenotypicFeature	Curved proximal phalanx of the 5th toe	A deviation from the normal straight form of the proximal phalanx of the fifth toe.	UMLS:C4022079	hp.json	Curved innermost little toe bone|Curved innermost pinkie toe bone|Curved innermost pinky toe bone	http://purl.obolibrary.org/obo/HP_0100448							
HP:0100449	biolink:PhenotypicFeature	Curved distal phalanx of the 3rd toe	A deviation from the normal straight form of the distal phalanx of the third toe.	UMLS:C4022078	hp.json	Curved outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100449							
HP:0100450	biolink:PhenotypicFeature	Curved distal phalanx of the 4th toe	A deviation from the normal straight form of the distal phalanx of the fourth toe.	UMLS:C4022077	hp.json	Curved outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100450							
HP:0100451	biolink:PhenotypicFeature	Curved distal phalanx of the 5th toe	A deviation from the normal straight form of the distal phalanx of the fifth toe.	UMLS:C4022076	hp.json	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							
HP:0100452	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 3rd toe		UMLS:C4022075	hp.json		http://purl.obolibrary.org/obo/HP_0100452							
HP:0100453	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 4th toe		UMLS:C4022074	hp.json		http://purl.obolibrary.org/obo/HP_0100453							
HP:0100454	biolink:PhenotypicFeature	Osteolytic defects of the middle phalanx of the 5th toe		UMLS:C4022073	hp.json		http://purl.obolibrary.org/obo/HP_0100454							
HP:0100455	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 3rd toe		UMLS:C4022072	hp.json		http://purl.obolibrary.org/obo/HP_0100455							
HP:0100456	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 4th toe		UMLS:C4022071	hp.json		http://purl.obolibrary.org/obo/HP_0100456							
HP:0100457	biolink:PhenotypicFeature	Osteolytic defects of the proximal phalanx of the 5th toe		UMLS:C4022070	hp.json		http://purl.obolibrary.org/obo/HP_0100457							
HP:0100458	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 3rd toe		UMLS:C4022069	hp.json	Osteolytic defects of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100458							
HP:0100459	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 4th toe		UMLS:C4022068	hp.json	Osteolytic defects of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100459							
HP:0100460	biolink:PhenotypicFeature	Osteolytic defects of the distal phalanx of the 5th toe		UMLS:C4022067	hp.json	Osteolytic defects of the outermost bone of the 5th toe	http://purl.obolibrary.org/obo/HP_0100460							
HP:0100461	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 3rd toe		UMLS:C4022066	hp.json	Uneven increase in bone density in the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100461							
HP:0100462	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 4th toe	Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4022065	hp.json	Uneven increase in bone density in middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100462							
HP:0100463	biolink:PhenotypicFeature	Patchy sclerosis of the middle phalanx of the 5th toe	Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4022064	hp.json	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							
HP:0100464	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 3rd toe		UMLS:C4022063	hp.json	Uneven increase in bone density in the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100464							
HP:0100465	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 4th toe	Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4022062	hp.json	Uneven increase in bone density in the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100465							
HP:0100466	biolink:PhenotypicFeature	Patchy sclerosis of the proximal phalanx of the 5th toe	Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4022061	hp.json	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							
HP:0100467	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 3rd toe		UMLS:C4022060	hp.json	Uneven increase in bone density in the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100467							
HP:0100468	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 4th toe	Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4022059	hp.json	Uneven increase in bone density in the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100468							
HP:0100469	biolink:PhenotypicFeature	Patchy sclerosis of the distal phalanx of the 5th toe	Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.	UMLS:C4022058	hp.json	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							
HP:0100470	biolink:PhenotypicFeature	Symphalangism affecting the middle phalanx of the 3rd toe		UMLS:C4022057	hp.json	Fused middle bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0100470							
HP:0100471	biolink:PhenotypicFeature	Symphalangism affecting the middle phalanx of the 4th toe		UMLS:C4022056	hp.json	Fused middle bones of 4th toe	http://purl.obolibrary.org/obo/HP_0100471							
HP:0100472	biolink:PhenotypicFeature	Symphalangism affecting the middle phalanx of the 5th toe		UMLS:C4022055	hp.json	Fused middle bones of 5th toe	http://purl.obolibrary.org/obo/HP_0100472							
HP:0100473	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 3rd toe		UMLS:C4022054	hp.json	Fused innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100473							
HP:0100474	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 4th toe		UMLS:C4022053	hp.json	Fused innermost bones of 4th toe	http://purl.obolibrary.org/obo/HP_0100474							
HP:0100475	biolink:PhenotypicFeature	Symphalangism affecting the proximal phalanx of the 5th toe		UMLS:C4022052	hp.json	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	biolink:PhenotypicFeature	Symphalangism affecting the distal phalanx of the 3rd toe		UMLS:C4022051	hp.json	Fused outermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100476							
HP:0100477	biolink:PhenotypicFeature	Symphalangism affecting the distal phalanx of the 4th toe		UMLS:C4022050	hp.json	Fused outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100477							
HP:0100478	biolink:PhenotypicFeature	Symphalangism affecting the distal phalanx of the 5th toe		UMLS:C4022049	hp.json	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	biolink:PhenotypicFeature	Proximal/middle symphalangism of 3rd toe	Bony fusion of the middle and proximal phalanges of the 3rd toe.	UMLS:C4020975	hp.json	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							
HP:0100481	biolink:PhenotypicFeature	Proximal/middle symphalangism of 4th toe	Bony fusion of the middle and proximal phalanges of the 4th toe.	UMLS:C4020974	hp.json	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							
HP:0100482	biolink:PhenotypicFeature	Proximal/middle symphalangism of 5th toe	Bony fusion of the middle and proximal phalanges of the 5th toe.	UMLS:C4020973	hp.json	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							
HP:0100483	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal		UMLS:C4022048	hp.json	Fused innermost bone of 2nd toe with the 2nd long bone of foot	http://purl.obolibrary.org/obo/HP_0100483							
HP:0100484	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal		UMLS:C4022047	hp.json	Fused innermost bones of third toe with 3rd long bone of foot	http://purl.obolibrary.org/obo/HP_0100484							
HP:0100485	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal		UMLS:C4022046	hp.json	Fused innermost bone of the 4th toe with 4th long bone of foot	http://purl.obolibrary.org/obo/HP_0100485							
HP:0100486	biolink:PhenotypicFeature	Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal		UMLS:C4022045	hp.json	Fused innermost pinky toe bone with the 5th long bone of foot	http://purl.obolibrary.org/obo/HP_0100486							
HP:0100487	biolink:PhenotypicFeature	Triangular shaped distal phalanx of the 5th toe		UMLS:C4022044	hp.json	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	biolink:PhenotypicFeature	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal		UMLS:C4022043	hp.json	Fusion of the innermost big toe bone with the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0100488							
HP:0100489	biolink:PhenotypicFeature	Proximal/middle symphalangism of 2nd toe	Bony fusion of the middle and proximal phalanges of the 2nd toe.	UMLS:C4020972	hp.json	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							
HP:0100490	biolink:PhenotypicFeature	Camptodactyly of finger	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.	SNOMEDCT_US:202281000|UMLS:C0409348	hp.json	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							
HP:0100491	biolink:PhenotypicFeature	Abnormality of lower limb joint		UMLS:C4020971	hp.json	Abnormality of lower limb joint|Abnormality of the joints of the lower limbs	http://purl.obolibrary.org/obo/HP_0100491							
HP:0100492	biolink:PhenotypicFeature	Joint contractures involving the joints of the feet	Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.	UMLS:C4022042	hp.json		http://purl.obolibrary.org/obo/HP_0100492							
HP:0100493	biolink:PhenotypicFeature	Hypoammonemia	A decreased concentration of ammonia in the blood.	UMLS:C4022041	hp.json		http://purl.obolibrary.org/obo/HP_0100493							
HP:0100494	biolink:PhenotypicFeature	Abnormal mast cell morphology	Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.	SNOMEDCT_US:397017008|UMLS:C1301149	hp.json	Abnormality of mast cells|Abnormality of mastocytes	http://purl.obolibrary.org/obo/HP_0100494							
HP:0100495	biolink:PhenotypicFeature	Mastocytosis	The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.	MSH:D008415|SNOMEDCT_US:125541005|SNOMEDCT_US:397007003|UMLS:C0024899	hp.json		http://purl.obolibrary.org/obo/HP_0100495							
HP:0100496	biolink:PhenotypicFeature	Abnormality of the vitamin B3 metabolism		UMLS:C4022040	hp.json	Abnormality of the vitamin B3 metabolism	http://purl.obolibrary.org/obo/HP_0100496							
HP:0100497	biolink:PhenotypicFeature	Vitamin B3 deficiency		MSH:D010383|SNOMEDCT_US:418186002|SNOMEDCT_US:418279001|UMLS:C0030783	hp.json	Vitamin B3 deficiency	http://purl.obolibrary.org/obo/HP_0100497							
HP:0100498	biolink:PhenotypicFeature	Deviation of toes		UMLS:C4022039	hp.json		http://purl.obolibrary.org/obo/HP_0100498							
HP:0100499	biolink:PhenotypicFeature	Tibial deviation of toes		UMLS:C3806533	hp.json	Medial deviation of toes	http://purl.obolibrary.org/obo/HP_0100499							
HP:0100500	biolink:PhenotypicFeature	Fibular deviation of toes		UMLS:C4020970	hp.json	Lateral deviation of toes	http://purl.obolibrary.org/obo/HP_0100500							
HP:0100501	biolink:PhenotypicFeature	Recurrent bronchiolitis	An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.	UMLS:C4015136	hp.json		http://purl.obolibrary.org/obo/HP_0100501							
HP:0100502	biolink:PhenotypicFeature	Vitamin B12 deficiency		MSH:D014806|SNOMEDCT_US:190634004|UMLS:C0042847	hp.json	Vitamin B12 deficiency	http://purl.obolibrary.org/obo/HP_0100502							
HP:0100503	biolink:PhenotypicFeature	Low levels of vitamin B1	A reduced concentration of vitamin B1.	MSH:D013832|SNOMEDCT_US:399357009|UMLS:C0039841	hp.json	Vitamin B1 deficiency|Reduced blood thiamine level	http://purl.obolibrary.org/obo/HP_0100503							
HP:0100504	biolink:PhenotypicFeature	Low levels of vitamin B2	A reduced concentration of vitamin B2.	MSH:D012257|SNOMEDCT_US:20307000|UMLS:C0035528	hp.json	Vitamin B2 deficiency|Riboflavin deficiency	http://purl.obolibrary.org/obo/HP_0100504							
HP:0100505	biolink:PhenotypicFeature	Low levels of vitamin B5	A reduced concentration of vitamin B5.	UMLS:C4022038	hp.json	Vitamin B5 deficiency	http://purl.obolibrary.org/obo/HP_0100505							
HP:0100506	biolink:PhenotypicFeature	Low levels of vitamin B8	A reduced concentration of vitamin B8.	UMLS:C4022037	hp.json	Vitamin B8 deficiency	http://purl.obolibrary.org/obo/HP_0100506							
HP:0100507	biolink:PhenotypicFeature	Reduced blood folate concentration	A reduced circulating concentration of folic acid, which is also known as vitamin B9.	MSH:D005494|SNOMEDCT_US:190633005|UMLS:C0016412	hp.json	Folate deficiency|Vitamin B9 deficiency	http://purl.obolibrary.org/obo/HP_0100507							
HP:0100508	biolink:PhenotypicFeature	Abnormality of vitamin metabolism	An anomaly in the metabolism of a vitamin.	UMLS:C4022036	hp.json	Abnormality of vitamin metabolism	http://purl.obolibrary.org/obo/HP_0100508							
HP:0100509	biolink:PhenotypicFeature	Abnormality of vitamin C metabolism		UMLS:C4021863	hp.json	Abnormality of vitamin C metabolism	http://purl.obolibrary.org/obo/HP_0100509							
HP:0100510	biolink:PhenotypicFeature	Low levels of vitamin C	A reduced concentration of Vitamin C.	MSH:D001206|SNOMEDCT_US:76169001|UMLS:C0003969	hp.json	Vitamin C deficiency	http://purl.obolibrary.org/obo/HP_0100510							
HP:0100511	biolink:PhenotypicFeature	Abnormality of vitamin D metabolism		UMLS:C4022035	hp.json	Abnormality of vitamin D metabolism	http://purl.obolibrary.org/obo/HP_0100511							
HP:0100512	biolink:PhenotypicFeature	Low levels of vitamin D	A reduced concentration of Vitamin D.	MSH:D014808|SNOMEDCT_US:34713006|UMLS:C0042870	hp.json	Deficient in vitamin D|Vitamin D deficiency	http://purl.obolibrary.org/obo/HP_0100512							
HP:0100513	biolink:PhenotypicFeature	Low levels of vitamin E	A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.	MSH:D014811|SNOMEDCT_US:54137008|UMLS:C0042875	hp.json	Vitamin E deficiency|Alpha-tocopherol deficiency	http://purl.obolibrary.org/obo/HP_0100513							
HP:0100514	biolink:PhenotypicFeature	Abnormality of vitamin E metabolism		UMLS:C4022034	hp.json	Abnormality of vitamin E metabolism	http://purl.obolibrary.org/obo/HP_0100514							
HP:0100515	biolink:PhenotypicFeature	Pollakisuria	Increased frequency of urination.	SNOMEDCT_US:162116003|SNOMEDCT_US:300471006|UMLS:C0042023	hp.json	Constant urination|Frequent urination	http://purl.obolibrary.org/obo/HP_0100515							
HP:0100516	biolink:PhenotypicFeature	Neoplasm of the ureter	The presence of a neoplasm of the ureter.	MSH:D014516|NCIT:C3262|SNOMEDCT_US:126882009|SNOMEDCT_US:363458004|UMLS:C0041955|UMLS:C0153619	hp.json	Neoplasia of the ureters|ureter, cancer of	http://purl.obolibrary.org/obo/HP_0100516							
HP:0100517	biolink:PhenotypicFeature	Neoplasm of the urethra	The presence of a neoplasm of the urethra.	MSH:D014523|NCIT:C2974|SNOMEDCT_US:126883004|UMLS:C0041971	hp.json	Neoplasia of the urethra	http://purl.obolibrary.org/obo/HP_0100517							
HP:0100518	biolink:PhenotypicFeature	Dysuria	Painful or difficult urination.	MSH:D053159|SNOMEDCT_US:49650001|UMLS:C0013428	hp.json	Painful or difficult urination|Dull burning sensation with urination	http://purl.obolibrary.org/obo/HP_0100518							
HP:0100519	biolink:PhenotypicFeature	Anuria	Absence of urine, clinically classified as below 50ml/day.	MSH:D001002|SNOMEDCT_US:2472002|UMLS:C0003460	hp.json	Absent urine output	http://purl.obolibrary.org/obo/HP_0100519							
HP:0100520	biolink:PhenotypicFeature	Oliguria	Low output of urine, clinically classified as an output below 300-500ml/day.	MSH:D009846|SNOMEDCT_US:718403007|SNOMEDCT_US:83128009|UMLS:C0028961	hp.json		http://purl.obolibrary.org/obo/HP_0100520							
HP:0100521	biolink:PhenotypicFeature	Neoplasm of the thymus	A tumor (abnormal growth of tissue) of the thymus.	MSH:D013953|NCIT:C3262|SNOMEDCT_US:127231009|UMLS:C3714644	hp.json		http://purl.obolibrary.org/obo/HP_0100521							
HP:0100522	biolink:PhenotypicFeature	Thymoma	A tumor originating from the epithelial cells of the thymus.	MSH:D013945|NCIT:C3411|SNOMEDCT_US:128856005|SNOMEDCT_US:444231005|UMLS:C0040100	hp.json		http://purl.obolibrary.org/obo/HP_0100522							
HP:0100523	biolink:PhenotypicFeature	Liver abscess	The presence of an abscess of the liver.	MSH:D008100|SNOMEDCT_US:27916005|UMLS:C0023885	hp.json	Liver abscess|Hepatic abscess	http://purl.obolibrary.org/obo/HP_0100523							
HP:0100524	biolink:PhenotypicFeature	Limb duplication	Congenital duplication of all or part of a limb.	SNOMEDCT_US:34488005|UMLS:C0265551	hp.json	Limb duplication|Dimelia	http://purl.obolibrary.org/obo/HP_0100524							hposlim_core
HP:0100525	biolink:PhenotypicFeature	Urachus fistula	Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.	SNOMEDCT_US:398320008|SNOMEDCT_US:50986000|UMLS:C0345344	hp.json		http://purl.obolibrary.org/obo/HP_0100525							
HP:0100526	biolink:PhenotypicFeature	Neoplasm of the lung	Tumor of the lung.	MSH:D008175|NCIT:C3262|SNOMEDCT_US:126713003|UMLS:C0024121	hp.json	Lung cancer|Lung tumor|Lung tumour	http://purl.obolibrary.org/obo/HP_0100526							
HP:0100527	biolink:PhenotypicFeature	Neoplasia of the pleura		NCIT:C3262|UMLS:C4022033	hp.json		http://purl.obolibrary.org/obo/HP_0100527							
HP:0100528	biolink:PhenotypicFeature	Pleuropulmonary blastoma	A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.	MSH:C537516|NCIT:C3732|SNOMEDCT_US:128763002|SNOMEDCT_US:707670009|UMLS:C1266144	hp.json		http://purl.obolibrary.org/obo/HP_0100528							
HP:0100529	biolink:PhenotypicFeature	Abnormal blood phosphate concentration	An abnormality of phosphate homeostasis or concentration in the body.	UMLS:C4022032	hp.json	Abnormality of phosphate homeostasis	http://purl.obolibrary.org/obo/HP_0100529							
HP:0100530	biolink:PhenotypicFeature	Abnormal calcium-phosphate regulating hormone level	Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.	UMLS:C4022031	hp.json	Abnormal Ca-PHOS regulating hormone level|Abnormal Ca2+ PO4 regulating hormone level	http://purl.obolibrary.org/obo/HP_0100530							
HP:0100531	biolink:PhenotypicFeature	Wind-swept deformity of the knees	The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.	UMLS:C4022030	hp.json	Wind-swept deformity of the knees	http://purl.obolibrary.org/obo/HP_0100531							
HP:0100532	biolink:PhenotypicFeature	Scleritis	Inflammation of the sclera.	MSH:D015423|SNOMEDCT_US:78370002|UMLS:C0036416	hp.json	Inflammation of the outer white part of the eye	http://purl.obolibrary.org/obo/HP_0100532							hposlim_core
HP:0100533	biolink:PhenotypicFeature	Inflammatory abnormality of the eye	Inflammation of the eye, parts of the eye or the periorbital region.	UMLS:C4020969	hp.json	Inflammatory abnormality of the eye|Ocular inflammation	http://purl.obolibrary.org/obo/HP_0100533							
HP:0100534	biolink:PhenotypicFeature	Episcleritis	Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.	MSH:D015423|SNOMEDCT_US:815008|UMLS:C0014583	hp.json	Inflammation of the thin layer on top of the white part of eye	http://purl.obolibrary.org/obo/HP_0100534							hposlim_core
HP:0100535	biolink:PhenotypicFeature	Tibiofibular diastasis		UMLS:C4022029	hp.json		http://purl.obolibrary.org/obo/HP_0100535							
HP:0100536	biolink:PhenotypicFeature	Abnormality of the fascia	An abnormality of fascia.	UMLS:C4022028	hp.json		http://purl.obolibrary.org/obo/HP_0100536							
HP:0100537	biolink:PhenotypicFeature	Fasciitis	Inflammation of fascia, the tissue under the skin and over the muscle.	MSH:D005208|SNOMEDCT_US:36948007|UMLS:C0015645	hp.json	Inflammation of the fascia	http://purl.obolibrary.org/obo/HP_0100537							
HP:0100538	biolink:PhenotypicFeature	Abnormality of the supraorbital ridges	An anomaly of the supraorbital portion of the frontal bones.	UMLS:C4022027	hp.json	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							
HP:0100539	biolink:PhenotypicFeature	Periorbital edema	Edema affecting the region situated around the orbit of the eye.	SNOMEDCT_US:109245003|SNOMEDCT_US:267041004|SNOMEDCT_US:49563000|UMLS:C0149754|UMLS:C0151205|UMLS:C0424810	hp.json	Periorbital oedema|Periorbital cellulitis	http://purl.obolibrary.org/obo/HP_0100539							
HP:0100540	biolink:PhenotypicFeature	Palpebral edema	Edema in the region of the eyelids.	SNOMEDCT_US:89091004|UMLS:C0162285	hp.json	Fullness of eyelids|Puffy eyelids|Puffy lids|Swelling of eyelids|Eyelid oedema|Oedema of the eyelids|Palpebral oedema|Edema of the eyelids|Eyelid edema	http://purl.obolibrary.org/obo/HP_0100540							
HP:0100541	biolink:PhenotypicFeature	Femoral hernia	A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.	MEDDRA:10016434|MSH:D006550|SNOMEDCT_US:50063009|UMLS:C0019288	hp.json	Crural hernia	http://purl.obolibrary.org/obo/HP_0100541							hposlim_core
HP:0100542	biolink:PhenotypicFeature	Abnormal localization of kidney	An abnormal site of the kidney.	UMLS:C4020968	hp.json	Abnormal localisation of kidneys	http://purl.obolibrary.org/obo/HP_0100542							
HP:0100543	biolink:PhenotypicFeature	Cognitive impairment	Abnormal cognition with deficits in thinking, reasoning, or remembering.	MSH:D060825|SNOMEDCT_US:386806002|UMLS:C0338656|UMLS:C0683322	hp.json	Abnormality of cognition|Cognitive abnormality|Cognitive defects|Cognitive deficits|Cognitive impairment|Intellectual impairment	http://purl.obolibrary.org/obo/HP_0100543							
HP:0100544	biolink:PhenotypicFeature	Neoplasm of the heart	A tumor (abnormal growth of tissue) of the heart.	MSH:D006338|NCIT:C3262|SNOMEDCT_US:387842002|UMLS:C0018809	hp.json	Heart tumor|Heart tumour|Cardiac neoplasm|Cardiac neoplasia	http://purl.obolibrary.org/obo/HP_0100544							
HP:0100545	biolink:PhenotypicFeature	Arterial stenosis	Narrowing or constriction of the inner surface (lumen) of an artery.	SNOMEDCT_US:68109007|UMLS:C0038449	hp.json	Narrowing of an artery	http://purl.obolibrary.org/obo/HP_0100545							
HP:0100546	biolink:PhenotypicFeature	Carotid artery stenosis	Narrowing of the carotid arteries.	MSH:D016893|SNOMEDCT_US:64586002|UMLS:C0007282	hp.json	Narrowing of carotid artery|Carotid stenosis	http://purl.obolibrary.org/obo/HP_0100546							
HP:0100547	biolink:PhenotypicFeature	Abnormality of forebrain morphology	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.	UMLS:C4020967	hp.json	Abnormal shape of forebrain|Abnormality of the forebrain	http://purl.obolibrary.org/obo/HP_0100547							
HP:0100548	biolink:PhenotypicFeature	Exstrophy	Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.	SNOMEDCT_US:110407002|UMLS:C0015338	hp.json		http://purl.obolibrary.org/obo/HP_0100548							
HP:0100550	biolink:PhenotypicFeature	Tendon rupture	Breakage (tear) of a tendon.	SNOMEDCT_US:415749005|UMLS:C0151937	hp.json	Rupture of tendons|Ruptured tendon|Tendon rupture|Tendon/muscle rupture	http://purl.obolibrary.org/obo/HP_0100550							
HP:0100551	biolink:PhenotypicFeature	Neoplasm of the trachea	A neoplasm of the trachea.	MSH:D014134|NCIT:C3262|SNOMEDCT_US:126703006|UMLS:C0040582	hp.json	Tracheal neoplasm	http://purl.obolibrary.org/obo/HP_0100551							
HP:0100552	biolink:PhenotypicFeature	Neoplasm of the tracheobronchial system		NCIT:C3262|UMLS:C4022026	hp.json		http://purl.obolibrary.org/obo/HP_0100552							
HP:0100553	biolink:PhenotypicFeature	Hemihypertrophy of lower limb	Overgrowth of only one leg.	SNOMEDCT_US:205369009|UMLS:C0431928	hp.json	Overgrowth of one leg	http://purl.obolibrary.org/obo/HP_0100553							
HP:0100554	biolink:PhenotypicFeature	Hemihypertrophy of upper limb	Overgrowth of only one arm.	SNOMEDCT_US:253920006|UMLS:C0431810	hp.json	Overgrowth of one arm	http://purl.obolibrary.org/obo/HP_0100554							
HP:0100555	biolink:PhenotypicFeature	Asymmetric growth	A growth pattern that displays an abnormal difference between the left and the right side.	UMLS:C4022025	hp.json	Uneven or disproportionate growth of one body part compared to another	http://purl.obolibrary.org/obo/HP_0100555							
HP:0100556	biolink:PhenotypicFeature	Hemiatrophy	Undergrowth of the limbs that affects only one side.	SNOMEDCT_US:34087007|UMLS:C0333662	hp.json	Asymmetric limb shortening|Hemiatrophy of the body	http://purl.obolibrary.org/obo/HP_0100556							
HP:0100557	biolink:PhenotypicFeature	Hemiatrophy of lower limb	Unilateral atrophy (reduction in size) of a leg.	SNOMEDCT_US:709411004|UMLS:C0431934	hp.json	Asymmetric lower limb shortening	http://purl.obolibrary.org/obo/HP_0100557							
HP:0100558	biolink:PhenotypicFeature	Hemiatrophy of upper limb	Unilateral atrophy (reduction in size) of an arm.	SNOMEDCT_US:253921005|UMLS:C0431814	hp.json	Asymmetric upper limb shortening|Hemihypotrophy of upper limb	http://purl.obolibrary.org/obo/HP_0100558							
HP:0100559	biolink:PhenotypicFeature	Lower limb asymmetry	A difference in length or diameter between the left and right leg.	MSH:D007870|SNOMEDCT_US:45939007|UMLS:C0023221	hp.json	Left and right leg differ in length or width|Leg length discrepancy	http://purl.obolibrary.org/obo/HP_0100559							
HP:0100560	biolink:PhenotypicFeature	Upper limb asymmetry	Difference in length or size between the right and left arm.	UMLS:C4022024	hp.json	Unequal size of arms	http://purl.obolibrary.org/obo/HP_0100560							hposlim_core
HP:0100561	biolink:PhenotypicFeature	Spinal cord lesion		UMLS:C0241224	hp.json		http://purl.obolibrary.org/obo/HP_0100561							
HP:0100562	biolink:PhenotypicFeature	Diplomyelia	Duplication of the spinal cord.	SNOMEDCT_US:360527003|UMLS:C1260890	hp.json	Duplication of spinal cord	http://purl.obolibrary.org/obo/HP_0100562							
HP:0100563	biolink:PhenotypicFeature	Diastomatomyelia	Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.	UMLS:C4022023	hp.json		http://purl.obolibrary.org/obo/HP_0100563							
HP:0100564	biolink:PhenotypicFeature	Triplomyelia	Triplication of the spinal cord - extremely rare.	UMLS:C4022022	hp.json	Triplication of spinal cord	http://purl.obolibrary.org/obo/HP_0100564							
HP:0100565	biolink:PhenotypicFeature	Hydromyelia	Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.	SNOMEDCT_US:11197005|SNOMEDCT_US:74740003|UMLS:C0152444	hp.json		http://purl.obolibrary.org/obo/HP_0100565							
HP:0100566	biolink:PhenotypicFeature	Amyelia	Congenital absence of the spinal cord.	SNOMEDCT_US:78784005|UMLS:C0266510	hp.json	Absent spinal cord	http://purl.obolibrary.org/obo/HP_0100566							
HP:0100568	biolink:PhenotypicFeature	Neoplasm of the endocrine system	A tumor (abnormal growth of tissue) of the endocrine system.	MSH:D004701|NCIT:C3262|SNOMEDCT_US:387922007|SNOMEDCT_US:387927001|UMLS:C0014132	hp.json	Endocrine neoplasia	http://purl.obolibrary.org/obo/HP_0100568							
HP:0100569	biolink:PhenotypicFeature	Abnormally ossified vertebrae	An abnormality of the formation and mineralization of one or more vertebrae.	UMLS:C4020966	hp.json	Abnormal bone maturation of vertebra|Abnormal vertebral ossification|Abnormality of ossification/mineralisation of vertebrae	http://purl.obolibrary.org/obo/HP_0100569							
HP:0100570	biolink:PhenotypicFeature	Carcinoid tumor	A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.	MSH:D002276|SNOMEDCT_US:189607006|SNOMEDCT_US:443492008|UMLS:C0007095	hp.json	Carcinoid tumour|Carcinoid tumours|Carcinoid|Carcinoid tumors	http://purl.obolibrary.org/obo/HP_0100570							
HP:0100571	biolink:PhenotypicFeature	Cardiac diverticulum	A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.	UMLS:C4020965	hp.json	Ventricular diverticulum	http://purl.obolibrary.org/obo/HP_0100571							
HP:0100572	biolink:PhenotypicFeature	Fibrous cardiac diverticulum	A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.	UMLS:C4020964	hp.json	Congenital ventricular aneurysm	http://purl.obolibrary.org/obo/HP_0100572							
HP:0100573	biolink:PhenotypicFeature	Muscular cardiac diverticulum		UMLS:C4022021	hp.json		http://purl.obolibrary.org/obo/HP_0100573							
HP:0100574	biolink:PhenotypicFeature	Biliary tract neoplasm	A tumor (abnormal growth of tissue) of the biliary system.	MSH:D001661|NCIT:C3262|SNOMEDCT_US:126853008|UMLS:C0005426|UMLS:C4020709	hp.json	Neoplasia of the biliary tract	http://purl.obolibrary.org/obo/HP_0100574							
HP:0100575	biolink:PhenotypicFeature	Neoplasm of the gallbladder	The presence of a neoplasm of the gallbladder.	MSH:D005706|NCIT:C3262|SNOMEDCT_US:126854002|UMLS:C0016978|UMLS:C4020708	hp.json	Neoplasia of the gallbladder	http://purl.obolibrary.org/obo/HP_0100575							
HP:0100576	biolink:PhenotypicFeature	Amaurosis fugax	A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.	MSH:D020757|SNOMEDCT_US:88032003|UMLS:C0149793	hp.json		http://purl.obolibrary.org/obo/HP_0100576							hposlim_core
HP:0100577	biolink:PhenotypicFeature	Urinary bladder inflammation	Inflammation of the urinary bladder.	MSH:D003556|SNOMEDCT_US:38822007|UMLS:C0010692	hp.json	Urinary bladder inflammation|Cystitis of the urinary bladder	http://purl.obolibrary.org/obo/HP_0100577							
HP:0100578	biolink:PhenotypicFeature	Lipoatrophy	Localized loss of fat tissue.	MEDDRA:10024604|SNOMEDCT_US:248315005|UMLS:C1280433	hp.json	Loss of fat tissue in localized area|Loss of fat tissue in localised area|Atrophy of fat	http://purl.obolibrary.org/obo/HP_0100578							hposlim_core
HP:0100579	biolink:PhenotypicFeature	Mucosal telangiectasiae	Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.	UMLS:C4022020	hp.json		http://purl.obolibrary.org/obo/HP_0100579							
HP:0100580	biolink:PhenotypicFeature	Barrett esophagus	An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.	MSH:D001471|SNOMEDCT_US:302914006|UMLS:C0004763	hp.json	Barrett oesophagus|Barrett's oesophagus|Barret syndrome|Barrett's esophagus|Endobrachyesophagus	http://purl.obolibrary.org/obo/HP_0100580							
HP:0100581	biolink:PhenotypicFeature	Dilatation of renal calices	An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.	UMLS:C4022019	hp.json	Caliceal dilatation|Caliectasis|Megacalicosis	http://purl.obolibrary.org/obo/HP_0100581							
HP:0100582	biolink:PhenotypicFeature	Nasal polyposis	Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.	MSH:D009298|SNOMEDCT_US:52756005|UMLS:C0027430	hp.json	Nasal polyps|Polyposis nasi|Polys of nose	http://purl.obolibrary.org/obo/HP_0100582							
HP:0100583	biolink:PhenotypicFeature	Corneal perforation	A rupture of the cornea through which a portion of the iris protrudes.	MSH:D057112|SNOMEDCT_US:74895004|UMLS:C0339293|UMLS:C0948060	hp.json	Iridocele	http://purl.obolibrary.org/obo/HP_0100583							
HP:0100584	biolink:PhenotypicFeature	Endocarditis	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.	MSH:D004696|SNOMEDCT_US:56819008|UMLS:C0014118	hp.json		http://purl.obolibrary.org/obo/HP_0100584							
HP:0100585	biolink:PhenotypicFeature	Telangiectasia of the skin	Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.	UMLS:C4022018	hp.json	Teleangiectasia of the skin	http://purl.obolibrary.org/obo/HP_0100585							
HP:0100586	biolink:PhenotypicFeature	Sterile pyuria	Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.	UMLS:C4022017	hp.json	Aseptic leukocyturia	http://purl.obolibrary.org/obo/HP_0100586							
HP:0100587	biolink:PhenotypicFeature	Abnormal preputium morphology	An abnormality of the retractable fold of skin that covers the tip of the penis.	UMLS:C4022016	hp.json	Abnormality of the preputium	http://purl.obolibrary.org/obo/HP_0100587							
HP:0100588	biolink:PhenotypicFeature	Paraphimosis	The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.	MSH:D010263|SNOMEDCT_US:13758004|UMLS:C0030483	hp.json		http://purl.obolibrary.org/obo/HP_0100588							
HP:0100589	biolink:PhenotypicFeature	Urogenital fistula	The presence of a fistula affecting the genitourinary system.	UMLS:C0853877	hp.json		http://purl.obolibrary.org/obo/HP_0100589							
HP:0100590	biolink:PhenotypicFeature	Rectal fistula	The presence of a fistula affecting the rectum.	MSH:D012003|SNOMEDCT_US:80736008|UMLS:C0034884	hp.json		http://purl.obolibrary.org/obo/HP_0100590							
HP:0100592	biolink:PhenotypicFeature	Peritoneal abscess	The presence of an abscess of the peritoneum.	SNOMEDCT_US:73962000|UMLS:C0267756	hp.json		http://purl.obolibrary.org/obo/HP_0100592							
HP:0100593	biolink:PhenotypicFeature	Calcification of cartilage		UMLS:C4022015	hp.json		http://purl.obolibrary.org/obo/HP_0100593							
HP:0100594	biolink:PhenotypicFeature	Esophageal web	Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).	SNOMEDCT_US:19216006|SNOMEDCT_US:22395006|UMLS:C0267080	hp.json		http://purl.obolibrary.org/obo/HP_0100594							hposlim_core
HP:0100595	biolink:PhenotypicFeature	Camptocormia	An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.	MSH:C537968|SNOMEDCT_US:13534001|UMLS:C0264162	hp.json		http://purl.obolibrary.org/obo/HP_0100595							hposlim_core
HP:0100596	biolink:PhenotypicFeature	Absent nares	The nostrils (the paired channels of the nose) are not present.	UMLS:C4020707|UMLS:C4020963	hp.json	Missing nostrils|Abouphalia|Aplasia of the nares|Aplasia/Hypoplasia of the nares	http://purl.obolibrary.org/obo/HP_0100596							
HP:0100598	biolink:PhenotypicFeature	Pulmonary edema	Fluid accumulation in the lungs.	MSH:D011654|SNOMEDCT_US:19242006|UMLS:C0034063	hp.json	Excess fluid in lungs|Wet lung|Lung oedema|Lung edema|Pulmonary oedema	http://purl.obolibrary.org/obo/HP_0100598							
HP:0100599	biolink:PhenotypicFeature	Bifid penis	Two penile structures, separated from the tip to the base of the shaft.	SNOMEDCT_US:253851000|UMLS:C0345322	hp.json	Penile duplication|Diphallia	http://purl.obolibrary.org/obo/HP_0100599							
HP:0100600	biolink:PhenotypicFeature	Penoscrotal transposition	A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.	MSH:C536650|SNOMEDCT_US:312005008|UMLS:C1868854	hp.json	Prepenile scrotum	http://purl.obolibrary.org/obo/HP_0100600							
HP:0100601	biolink:PhenotypicFeature	Eclampsia	An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.	MSH:D004461|SNOMEDCT_US:15938005|UMLS:C0013537	hp.json		http://purl.obolibrary.org/obo/HP_0100601							
HP:0100602	biolink:PhenotypicFeature	Preeclampsia	Pregnancy-induced hypertension in association with significant amounts of protein in the urine.	MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914	hp.json	Pre-eclampsia	http://purl.obolibrary.org/obo/HP_0100602							
HP:0100603	biolink:PhenotypicFeature	Toxemia of pregnancy	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.	MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914	hp.json	Toxaemia of pregnancy|Hypertensive disorder of pregnancy	http://purl.obolibrary.org/obo/HP_0100603							
HP:0100604	biolink:PhenotypicFeature	Neoplasm of the lip	A tumor (abnormal growth of tissue) of the lip.	MSH:D008048|NCIT:C3262|SNOMEDCT_US:126770008|UMLS:C0023761|UMLS:C4020706	hp.json	Lip tumor|Lip tumour|Tumor of the lip|Tumour of the lip|Neoplasia of the lip	http://purl.obolibrary.org/obo/HP_0100604							
HP:0100605	biolink:PhenotypicFeature	Neoplasm of the larynx		MSH:D007822|NCIT:C3262|SNOMEDCT_US:126692004|UMLS:C0023055	hp.json		http://purl.obolibrary.org/obo/HP_0100605							
HP:0100606	biolink:PhenotypicFeature	Neoplasm of the respiratory system	A tumor (abnormal growth of tissue) of the respiratory system.	MSH:D012142|NCIT:C3262|SNOMEDCT_US:126667002|SNOMEDCT_US:448708002|UMLS:C0035244	hp.json	Respiratory system tumor|Respiratory system tumour	http://purl.obolibrary.org/obo/HP_0100606							
HP:0100607	biolink:PhenotypicFeature	Dysmenorrhea	Pain during menstruation that interferes with daily activities.	MSH:D004412|SNOMEDCT_US:266599000|SNOMEDCT_US:289900009|SNOMEDCT_US:431416001|UMLS:C0013390	hp.json	Painful menstruation	http://purl.obolibrary.org/obo/HP_0100607							
HP:0100608	biolink:PhenotypicFeature	Metrorrhagia	Bleeding at irregular intervals.	MSH:D008796|SNOMEDCT_US:19155002|SNOMEDCT_US:237130006|SNOMEDCT_US:64996003|UMLS:C0025874	hp.json	Abnormal uterus bleeding|Intermenstrual bleeding|Menstrual spotting	http://purl.obolibrary.org/obo/HP_0100608							
HP:0100609	biolink:PhenotypicFeature	obsolete Hypermenorrhea			hp.json		http://purl.obolibrary.org/obo/HP_0100609							
HP:0100610	biolink:PhenotypicFeature	Maternal hyperphenylalaninemia	A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.	UMLS:C4022014	hp.json	High blood phenylalanine level in mother	http://purl.obolibrary.org/obo/HP_0100610							
HP:0100611	biolink:PhenotypicFeature	Multiple glomerular cysts	The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.	UMLS:C4020705|UMLS:C4022013	hp.json	Glomerulocystic kidney disease	http://purl.obolibrary.org/obo/HP_0100611							
HP:0100612	biolink:PhenotypicFeature	Odontogenic neoplasm	Neoplasm involving odontogenic cells, an odontogenic tumor.	MSH:D009808|NCIT:C3286|SNOMEDCT_US:127578009|SNOMEDCT_US:3833004|UMLS:C0028880	hp.json	Odontogenic tumour|Odontogenic tumor	http://purl.obolibrary.org/obo/HP_0100612							hposlim_core
HP:0100613	biolink:PhenotypicFeature	Death in early adulthood	Death between the age of 16 and 40 years.	UMLS:C4022012	hp.json	Death in early adulthood	http://purl.obolibrary.org/obo/HP_0100613							
HP:0100614	biolink:PhenotypicFeature	Myositis	A general term for inflammation of the muscles without respect to the underlying cause.	MSH:D009220|SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121	hp.json	Muscle inflammation	http://purl.obolibrary.org/obo/HP_0100614							
HP:0100615	biolink:PhenotypicFeature	Ovarian neoplasm	A tumor (abnormal growth of tissue) of the ovary.	MSH:D010051|NCIT:C3262|SNOMEDCT_US:123843001|UMLS:C0919267	hp.json	Ovarian cancer|Ovarian tumor|Ovarian tumour|Neoplasm of the ovaries|Neoplasm of the ovary|Ovarian neoplasia	http://purl.obolibrary.org/obo/HP_0100615							
HP:0100616	biolink:PhenotypicFeature	Testicular teratoma	The presence of a teratoma of the testis.	MSH:C562472|NCIT:C3403|UMLS:C0238451	hp.json		http://purl.obolibrary.org/obo/HP_0100616							
HP:0100617	biolink:PhenotypicFeature	Testicular seminoma	The presence of a seminoma, an undifferentiated germ cell tumor of the testis.	MSH:D018239|NCIT:C9309|SNOMEDCT_US:255107005|SNOMEDCT_US:36741007|SNOMEDCT_US:443675005|UMLS:C0036631	hp.json		http://purl.obolibrary.org/obo/HP_0100617							
HP:0100618	biolink:PhenotypicFeature	Leydig cell neoplasia	The presence of a neoplasm of the testis with origin in a Leydig cell.	NCIT:C3188|UMLS:C4022011	hp.json		http://purl.obolibrary.org/obo/HP_0100618							
HP:0100619	biolink:PhenotypicFeature	Sertoli cell neoplasm	The presence of a neoplasm of the testis with origin in a Sertoli cell.	NCIT:C39976|UMLS:C4020704	hp.json	Sertoli cell neoplasia	http://purl.obolibrary.org/obo/HP_0100619							
HP:0100620	biolink:PhenotypicFeature	Germinoma	A type of undifferentiated germ cell tumor that may be benign or malignant.	MSH:D018237|SNOMEDCT_US:28307001|UMLS:C0206660	hp.json		http://purl.obolibrary.org/obo/HP_0100620							
HP:0100621	biolink:PhenotypicFeature	Dysgerminoma	The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.	MSH:D004407|NCIT:C2996|SNOMEDCT_US:60718004|UMLS:C0013377	hp.json		http://purl.obolibrary.org/obo/HP_0100621							
HP:0100622	biolink:PhenotypicFeature	Maternal seizure	A seizure during pregnancy.	UMLS:C4022010	hp.json	Maternal seizures	http://purl.obolibrary.org/obo/HP_0100622							
HP:0100623	biolink:PhenotypicFeature	Abnormality of corpus cavernosum		UMLS:C4022009	hp.json		http://purl.obolibrary.org/obo/HP_0100623							
HP:0100624	biolink:PhenotypicFeature	Corpus cavernosum sclerosis		UMLS:C4022008	hp.json		http://purl.obolibrary.org/obo/HP_0100624							
HP:0100625	biolink:PhenotypicFeature	Enlarged thorax		UMLS:C4020962	hp.json	Wide rib cage|Wide thorax	http://purl.obolibrary.org/obo/HP_0100625							
HP:0100626	biolink:PhenotypicFeature	Chronic hepatic failure		MSH:D058625|SNOMEDCT_US:235886005|UMLS:C2936476	hp.json	Chronic liver failure	http://purl.obolibrary.org/obo/HP_0100626							
HP:0100627	biolink:PhenotypicFeature	Displacement of the urethral meatus	A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).	UMLS:C4020961	hp.json	Displacement of the external urethral orifice|Displacement of the male external urethral orifice	http://purl.obolibrary.org/obo/HP_0100627							
HP:0100628	biolink:PhenotypicFeature	Esophageal diverticulum	The presence of a diverticulum of the esophagus.	MSH:D004936|SNOMEDCT_US:204667006|SNOMEDCT_US:414133009|UMLS:C0014854	hp.json	Esophageal pouch	http://purl.obolibrary.org/obo/HP_0100628							
HP:0100629	biolink:PhenotypicFeature	Midline facial cleft	A congenital malformation with a cleft (gap or opening) in the midline of the face.	UMLS:C4022007	hp.json	Midline facial cleft	http://purl.obolibrary.org/obo/HP_0100629							
HP:0100630	biolink:PhenotypicFeature	Neoplasia of the nasopharynx		MSH:D009303|NCIT:C3262|SNOMEDCT_US:126680004|UMLS:C0027439	hp.json	Tumour of the nasopharynx|Nasopharyngeal neoplasm|Neoplasm of the nasopharynx|Tumor of the nasopharynx	http://purl.obolibrary.org/obo/HP_0100630							
HP:0100631	biolink:PhenotypicFeature	Neoplasm of the adrenal gland	A tumor (abnormal growth of tissue) of the adrenal gland.	MSH:D000310|NCIT:C3262|SNOMEDCT_US:127021009|UMLS:C0001624	hp.json	Adrenal neoplasia	http://purl.obolibrary.org/obo/HP_0100631							
HP:0100632	biolink:PhenotypicFeature	Pulmonary sequestration	The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).	MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288|UMLS:C4020703	hp.json	Cystic lung lesion	http://purl.obolibrary.org/obo/HP_0100632							
HP:0100633	biolink:PhenotypicFeature	Esophagitis	Inflammation of the esophagus.	MEDDRA:10030216|MSH:D004941|SNOMEDCT_US:16761005|UMLS:C0014868	hp.json	Inflammation of the esophagus|Inflammation of the oesophagus|Oesophagitis	http://purl.obolibrary.org/obo/HP_0100633							hposlim_core
HP:0100634	biolink:PhenotypicFeature	Neuroendocrine neoplasm	A tumor that originates from a neuroendocrine cell.	MSH:D018358|SNOMEDCT_US:128928004|SNOMEDCT_US:255046005|UMLS:C0206754	hp.json	Neuroendocrine neoplasia	http://purl.obolibrary.org/obo/HP_0100634							
HP:0100635	biolink:PhenotypicFeature	Carotid paraganglioma	A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.	UMLS:C4022005	hp.json		http://purl.obolibrary.org/obo/HP_0100635							
HP:0100636	biolink:PhenotypicFeature	Pulmonary paraglioma	A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.	UMLS:C4022004	hp.json		http://purl.obolibrary.org/obo/HP_0100636							
HP:0100637	biolink:PhenotypicFeature	obsolete Neoplasia of the nose			hp.json		http://purl.obolibrary.org/obo/HP_0100637							
HP:0100638	biolink:PhenotypicFeature	Neoplasm of the pharynx	A neoplasm originating in the pharynx.	MSH:D010610|NCIT:C3262|SNOMEDCT_US:126685009|UMLS:C0031347	hp.json	Tumour of the pharynx|Neoplasia of the pharynx|Pharyngeal neoplasm|Tumor of the pharynx	http://purl.obolibrary.org/obo/HP_0100638							
HP:0100639	biolink:PhenotypicFeature	Erectile dysfunction	A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.		hp.json	Abnormal erection|Erectile abnormalities	http://purl.obolibrary.org/obo/HP_0100639							
HP:0100640	biolink:PhenotypicFeature	Laryngeal cyst	Presence of a cyst (sac-like structure) located in the larynx.	SNOMEDCT_US:195867000|UMLS:C0339880	hp.json		http://purl.obolibrary.org/obo/HP_0100640							
HP:0100641	biolink:PhenotypicFeature	Neoplasm of the adrenal cortex	The presence of a neoplasm of the adrenal cortex.	MSH:D000306|NCIT:C3262|SNOMEDCT_US:127022002|SNOMEDCT_US:18365006|UMLS:C0001618	hp.json	Cortical adrenal neoplasia	http://purl.obolibrary.org/obo/HP_0100641							
HP:0100642	biolink:PhenotypicFeature	Neoplasm of the adrenal medulla	The presence of a neoplasm of the adrenal medulla.	NCIT:C3262|SNOMEDCT_US:127023007|UMLS:C0596046	hp.json	Medullar adrenal neoplasia	http://purl.obolibrary.org/obo/HP_0100642							
HP:0100643	biolink:PhenotypicFeature	Abnormality of nail color	An anomaly of the color of the nail.	UMLS:C4020960	hp.json	Abnormality of nail color|Abnormality of nail colour|Nail dyschromia	http://purl.obolibrary.org/obo/HP_0100643							
HP:0100644	biolink:PhenotypicFeature	Melanonychia	Brown or black discoloration of the nails.	MEDDRA:10058330|SNOMEDCT_US:402633003|UMLS:C1142305	hp.json		http://purl.obolibrary.org/obo/HP_0100644							
HP:0100645	biolink:PhenotypicFeature	Cystocele	Anterior vaginal wall prolapse with bulging of the bladder into the vagina.	ICD-9:618.00|SNOMEDCT_US:252005008|UMLS:C1394494	hp.json	Bladder hernia|Dropped bladder|Bladder prolapse|Prolapsed bladder	http://purl.obolibrary.org/obo/HP_0100645							
HP:0100646	biolink:PhenotypicFeature	Thyroiditis	Inflammation of the thyroid gland.	MSH:D013966|SNOMEDCT_US:82119001|UMLS:C0040147	hp.json	Thyroid gland inflammation	http://purl.obolibrary.org/obo/HP_0100646							
HP:0100647	biolink:PhenotypicFeature	Graves disease	An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.	MSH:D006111|SNOMEDCT_US:353295004|SNOMEDCT_US:55807009|UMLS:C0018213	hp.json	Morbus Basedow	http://purl.obolibrary.org/obo/HP_0100647							
HP:0100648	biolink:PhenotypicFeature	Neoplasm of the tongue	A tumor (abnormal growth of tissue) of the tongue.	MSH:D014062|NCIT:C3262|SNOMEDCT_US:126778001|UMLS:C0040411	hp.json		http://purl.obolibrary.org/obo/HP_0100648							
HP:0100649	biolink:PhenotypicFeature	Neoplasm of the oral cavity	A tumor (abnormal growth of tissue) of the oral cavity.	MSH:D009062|NCIT:C3262|SNOMEDCT_US:1071000119107|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|UMLS:C0026640|UMLS:C0149744|UMLS:C4280289	hp.json	Tumor of oral cavity|Tumour of oral cavity|Lesion of oral cavity	http://purl.obolibrary.org/obo/HP_0100649							
HP:0100650	biolink:PhenotypicFeature	Vaginal neoplasm	A tumor (abnormal growth of tissue) of the vagina.	MSH:D014625|NCIT:C3262|SNOMEDCT_US:126921000|UMLS:C0042258|UMLS:C0750081	hp.json	Vaginal tumor|Vaginal tumour|Vaginal neoplasia	http://purl.obolibrary.org/obo/HP_0100650							
HP:0100651	biolink:PhenotypicFeature	Type I diabetes mellitus	A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.	MSH:D003922|SNOMEDCT_US:46635009|UMLS:C0011854	hp.json	Type 1 diabetes|Type I diabetes|Diabetes mellitus Type I|Juvenile diabetes mellitus|Insulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/HP_0100651							
HP:0100653	biolink:PhenotypicFeature	Optic neuritis	Inflammation of the optic nerve.	MSH:D009902|SNOMEDCT_US:66760008|UMLS:C0029134	hp.json		http://purl.obolibrary.org/obo/HP_0100653							
HP:0100654	biolink:PhenotypicFeature	Retrobulbar optic neuritis	Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.	MSH:D009902|SNOMEDCT_US:230507009|UMLS:C0085582	hp.json	Retrobulbar neuritis	http://purl.obolibrary.org/obo/HP_0100654							
HP:0100656	biolink:PhenotypicFeature	Thoracoabdominal wall defect	Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.	UMLS:C4022002	hp.json	Thoracoabdominal schisis	http://purl.obolibrary.org/obo/HP_0100656							
HP:0100657	biolink:PhenotypicFeature	Thoracoabdominal eventration	Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.	SNOMEDCT_US:44518003|UMLS:C0266682	hp.json	Celosomia|Kelosomia	http://purl.obolibrary.org/obo/HP_0100657							
HP:0100658	biolink:PhenotypicFeature	Cellulitis	A bacterial infection and inflammation of the skin und subcutaneous tissues.	MSH:D002481|MSH:D017192|SNOMEDCT_US:128045006|SNOMEDCT_US:128936008|SNOMEDCT_US:385627004|UMLS:C0007642|UMLS:C0162627	hp.json	Bacterial infection of skin|Skin infection|Skin infections	http://purl.obolibrary.org/obo/HP_0100658							hposlim_core
HP:0100659	biolink:PhenotypicFeature	Abnormal cerebral vascular morphology	An anomaly of the cerebral blood vessels.	UMLS:C4022001	hp.json	Abnormality of the cerebral blood vessels|Abnormality of the cerebral vasculature	http://purl.obolibrary.org/obo/HP_0100659							
HP:0100660	biolink:PhenotypicFeature	Dyskinesia	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.	MSH:D020820|SNOMEDCT_US:9748009|UMLS:C0013384	hp.json	Disorder of involuntary muscle movements|Dyskinesis|Dyskinesias	http://purl.obolibrary.org/obo/HP_0100660							
HP:0100661	biolink:PhenotypicFeature	Trigeminal neuralgia	A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.	MSH:D014277|SNOMEDCT_US:31681005|UMLS:C0040997	hp.json	Tic douloureux	http://purl.obolibrary.org/obo/HP_0100661							
HP:0100662	biolink:PhenotypicFeature	Chondritis	Inflammation of cartilage.	SNOMEDCT_US:46176001|UMLS:C0008439	hp.json	Cartilage inflammation	http://purl.obolibrary.org/obo/HP_0100662							
HP:0100663	biolink:PhenotypicFeature	Synotia	A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.	SNOMEDCT_US:77471004|UMLS:C0266677	hp.json		http://purl.obolibrary.org/obo/HP_0100663							
HP:0100665	biolink:PhenotypicFeature	Angioedema	Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.	MSH:D000799|SNOMEDCT_US:400075008|SNOMEDCT_US:41291007|UMLS:C0002994	hp.json	Quincke oedema|Angioneurotic oedema|Angiooedema|Quincke edema	http://purl.obolibrary.org/obo/HP_0100665							
HP:0100668	biolink:PhenotypicFeature	Intestinal duplication	A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.	SNOMEDCT_US:3845008|UMLS:C0266166|UMLS:C4020702	hp.json	Bowel duplication|Gut duplication	http://purl.obolibrary.org/obo/HP_0100668							
HP:0100669	biolink:PhenotypicFeature	Abnormal pigmentation of the oral mucosa	An abnormality of the pigmentation of the mucosa of the mouth.	UMLS:C4020959	hp.json	Abnormal color of the oral mucosa|Abnormal colour 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							
HP:0100670	biolink:PhenotypicFeature	Coarse metaphyseal trabecularization	Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.	UMLS:C4020958	hp.json	Coarse trabeculation at metaphyses|Rough bone trabeculation|Rough trabeculation of bone	http://purl.obolibrary.org/obo/HP_0100670							
HP:0100671	biolink:PhenotypicFeature	Abnormal trabecular bone morphology	Abnormal structure or form of trabecular bone.	UMLS:C4020957	hp.json	Abnormal shape of spongy bone|Abnormality of bone trabeculation	http://purl.obolibrary.org/obo/HP_0100671							
HP:0100672	biolink:PhenotypicFeature	Vaginal hernia	The presence of a hernia of the vagina.	SNOMEDCT_US:397786004|UMLS:C1442998	hp.json		http://purl.obolibrary.org/obo/HP_0100672							
HP:0100673	biolink:PhenotypicFeature	Vaginal hydrocele	A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.	MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|SNOMEDCT_US:55434001|UMLS:C1720771	hp.json		http://purl.obolibrary.org/obo/HP_0100673							
HP:0100674	biolink:PhenotypicFeature	Vaginal hematocele		UMLS:C1456401	hp.json		http://purl.obolibrary.org/obo/HP_0100674							
HP:0100675	biolink:PhenotypicFeature	Vaginal pyocele		UMLS:C4022000	hp.json		http://purl.obolibrary.org/obo/HP_0100675							
HP:0100676	biolink:PhenotypicFeature	Vaginal lymphocele		UMLS:C4021999	hp.json		http://purl.obolibrary.org/obo/HP_0100676							
HP:0100677	biolink:PhenotypicFeature	Vulval varicose vein	Varicosity of veins in the vulval region.	SNOMEDCT_US:48868008|UMLS:C0155796	hp.json		http://purl.obolibrary.org/obo/HP_0100677							
HP:0100678	biolink:PhenotypicFeature	Premature skin wrinkling	The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.	MEDDRA:10040954|MSH:D015595|SNOMEDCT_US:247434009|UMLS:C0037301	hp.json	Premature skin wrinkling|Wrinkled skin	http://purl.obolibrary.org/obo/HP_0100678							hposlim_core
HP:0100679	biolink:PhenotypicFeature	Lack of skin elasticity		SNOMEDCT_US:297957009|UMLS:C0558242|UMLS:C4021998	hp.json	Tight skin	http://purl.obolibrary.org/obo/HP_0100679							
HP:0100681	biolink:PhenotypicFeature	Esophageal duplication	A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.	SNOMEDCT_US:66865009|UMLS:C0266135	hp.json		http://purl.obolibrary.org/obo/HP_0100681							
HP:0100682	biolink:PhenotypicFeature	Tracheal atresia	A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.	SNOMEDCT_US:53189005|UMLS:C0265766	hp.json		http://purl.obolibrary.org/obo/HP_0100682							
HP:0100684	biolink:PhenotypicFeature	Salivary gland neoplasm	A tumor (abnormal growth of tissue) of a salivary gland.	MSH:D012468|NCIT:C3262|SNOMEDCT_US:235132004|SNOMEDCT_US:255072001|UMLS:C0036095|UMLS:C0220636	hp.json	Tumor of salivary gland|Tumour of salivary gland|Cancer of salivary gland|Salivary gland neoplasia	http://purl.obolibrary.org/obo/HP_0100684							
HP:0100685	biolink:PhenotypicFeature	Abnormal Sharpey fiber morphology	An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.	UMLS:C4020701|UMLS:C4021997	hp.json	Abnormal Sharpey fibre morphology|Abnormality of Sharpey fibres|Abnormality of Sharpey fibers|Enthesis abnormality	http://purl.obolibrary.org/obo/HP_0100685							
HP:0100686	biolink:PhenotypicFeature	Enthesitis		SNOMEDCT_US:359643005|UMLS:C1282952	hp.json	Inflammation of sharpey fibres|Inflammation of sharpey fibers	http://purl.obolibrary.org/obo/HP_0100686							
HP:0100687	biolink:PhenotypicFeature	Polyotia	The presence of an extra auricle on one or both sides of the head.	SNOMEDCT_US:35547002|UMLS:C0266611	hp.json		http://purl.obolibrary.org/obo/HP_0100687							
HP:0100689	biolink:PhenotypicFeature	Decreased corneal thickness	A decreased anteroposterior thickness of the cornea.	SNOMEDCT_US:423459005|UMLS:C1096274	hp.json	Thin cornea	http://purl.obolibrary.org/obo/HP_0100689							
HP:0100690	biolink:PhenotypicFeature	Mosaic central corneal dystrophy		UMLS:C4021996	hp.json		http://purl.obolibrary.org/obo/HP_0100690							
HP:0100691	biolink:PhenotypicFeature	Abnormality of the curvature of the cornea		UMLS:C4021995	hp.json		http://purl.obolibrary.org/obo/HP_0100691							
HP:0100692	biolink:PhenotypicFeature	Increased corneal curvature	An increase in the degree of curvature of the cornea compared to normal.	UMLS:C4020956	hp.json	Steep corneal curvature	http://purl.obolibrary.org/obo/HP_0100692							
HP:0100693	biolink:PhenotypicFeature	Iridodonesis	Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.	SNOMEDCT_US:118166004|UMLS:C0423320	hp.json		http://purl.obolibrary.org/obo/HP_0100693							
HP:0100694	biolink:PhenotypicFeature	Tibial torsion	Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.	SNOMEDCT_US:249785006|UMLS:C0426900	hp.json		http://purl.obolibrary.org/obo/HP_0100694							
HP:0100695	biolink:PhenotypicFeature	Lipedema	Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .	MSH:D065134|SNOMEDCT_US:234102003|UMLS:C0398370	hp.json		http://purl.obolibrary.org/obo/HP_0100695							
HP:0100697	biolink:PhenotypicFeature	Neurofibrosarcoma	A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.	MSH:D009442|MSH:D018319|NCIT:C3798|SNOMEDCT_US:19897006|SNOMEDCT_US:404037002|SNOMEDCT_US:77418004|UMLS:C0206729|UMLS:C0751690	hp.json	Malignant peripheral nerve sheath tumour|Malignant peripheral nerve sheath tumor|Malignant schwannoma|Neurosarcoma	http://purl.obolibrary.org/obo/HP_0100697							
HP:0100698	biolink:PhenotypicFeature	Subcutaneous neurofibromas	The presence of Neurofibromas in the subcutis.	SNOMEDCT_US:425327002|UMLS:C1827970	hp.json		http://purl.obolibrary.org/obo/HP_0100698							
HP:0100699	biolink:PhenotypicFeature	Scarring		MSH:D002921|SNOMEDCT_US:48677004|UMLS:C0008767	hp.json	Scarring|Scar tissue	http://purl.obolibrary.org/obo/HP_0100699							
HP:0100700	biolink:PhenotypicFeature	Abnormal arachnoid mater morphology	An abnormality of the Arachnoid mater.	UMLS:C4020955	hp.json	Abnormality of the arachnoid mater|Abnormality of the arachnoidea	http://purl.obolibrary.org/obo/HP_0100700							
HP:0100701	biolink:PhenotypicFeature	Abnormal pia mater	An abnormality of the pia mater.	UMLS:C4021994	hp.json	Abnormality of the pia mater	http://purl.obolibrary.org/obo/HP_0100701							
HP:0100702	biolink:PhenotypicFeature	Arachnoid cyst	An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.	MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981	hp.json	Fluid-filled sac located in membrane surrounding brain or spinal cord|Arachnoid cysts	http://purl.obolibrary.org/obo/HP_0100702							
HP:0100703	biolink:PhenotypicFeature	Tongue thrusting		SNOMEDCT_US:110343009|SNOMEDCT_US:424583005|UMLS:C1829460	hp.json	Tongue thrusting	http://purl.obolibrary.org/obo/HP_0100703							
HP:0100704	biolink:PhenotypicFeature	Cerebral visual impairment	A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.	MSH:D019575|SNOMEDCT_US:413924001|SNOMEDCT_US:68574006|UMLS:C0155320|UMLS:C4048268	hp.json	CVI|Cortical blindness|Cortical visual impairment|Cortical/cerebral visual impairment	http://purl.obolibrary.org/obo/HP_0100704							
HP:0100705	biolink:PhenotypicFeature	Abnormal glial cell morphology	An abnormality of the glia cell.	UMLS:C4021993	hp.json	Abnormality of the glial cells	http://purl.obolibrary.org/obo/HP_0100705							
HP:0100706	biolink:PhenotypicFeature	Abnormal oligodendroglia morphology	One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.	UMLS:C4021992	hp.json	Abnormality of the oligodendroglia	http://purl.obolibrary.org/obo/HP_0100706							
HP:0100707	biolink:PhenotypicFeature	Abnormal astrocyte morphology	An abnormality of astrocytes.	UMLS:C4021991	hp.json	Abnormality of the astrocytes	http://purl.obolibrary.org/obo/HP_0100707							
HP:0100708	biolink:PhenotypicFeature	Abnormal microglia morphology	An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.	UMLS:C4021990	hp.json	Abnormality of the microglia	http://purl.obolibrary.org/obo/HP_0100708							
HP:0100709	biolink:PhenotypicFeature	Reduction of oligodendroglia		UMLS:C4021852	hp.json		http://purl.obolibrary.org/obo/HP_0100709							
HP:0100710	biolink:PhenotypicFeature	Impulsivity	Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.	MSH:D007175|UMLS:C0021125	hp.json	Impulsive|Impulsivity	http://purl.obolibrary.org/obo/HP_0100710							
HP:0100711	biolink:PhenotypicFeature	Abnormal thoracic spine morphology	An abnormality of the thoracic vertebral column.	UMLS:C4021989	hp.json	Abnormality of the thoracic spine	http://purl.obolibrary.org/obo/HP_0100711							
HP:0100712	biolink:PhenotypicFeature	Abnormal lumbar spine morphology	Any structural abnormality of the lumbar vertebral column.	UMLS:C4021988	hp.json	Abnormality of the lumbar spine	http://purl.obolibrary.org/obo/HP_0100712							
HP:0100716	biolink:PhenotypicFeature	Self-injurious behavior	Aggression towards oneself.	MSH:D016728|SNOMEDCT_US:248062006|UMLS:C0085271	hp.json	Self-injurious behavior|Self-injurious behaviour|Self-injurious behaviors|Self-injurious behaviours|Autoagression|Self injury|Self-harm	http://purl.obolibrary.org/obo/HP_0100716							
HP:0100717	biolink:PhenotypicFeature	Abnormal cementum morphology	Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).	UMLS:C4021987	hp.json	Abnormality of the cementum	http://purl.obolibrary.org/obo/HP_0100717							
HP:0100718	biolink:PhenotypicFeature	Uterine rupture		MSH:D014597|SNOMEDCT_US:34430009|UMLS:C0042143	hp.json		http://purl.obolibrary.org/obo/HP_0100718							
HP:0100719	biolink:PhenotypicFeature	Lens coloboma	A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.	SNOMEDCT_US:204134008|UMLS:C0344516	hp.json		http://purl.obolibrary.org/obo/HP_0100719							hposlim_core
HP:0100720	biolink:PhenotypicFeature	Hypoplasia of the ear cartilage		UMLS:C4021986	hp.json	Underdeveloped ear cartilage	http://purl.obolibrary.org/obo/HP_0100720							
HP:0100721	biolink:PhenotypicFeature	Mediastinal lymphadenopathy	Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.	SNOMEDCT_US:52324001|UMLS:C0520743	hp.json	Swollen lymph nodes in center of chest|Swollen lymph nodes in centre of chest	http://purl.obolibrary.org/obo/HP_0100721							
HP:0100723	biolink:PhenotypicFeature	Gastrointestinal stroma tumor		MSH:D046152|SNOMEDCT_US:128755003|SNOMEDCT_US:420120006|UMLS:C0238198	hp.json	GI stroma tumor|GIST|GI stroma tumour|Gastrointestinal stroma tumour|Gastrointestinal stromal tumour|Gastrointestinal stromal tumours|Gastrointestinal stromal tumor|Gastrointestinal stromal tumors	http://purl.obolibrary.org/obo/HP_0100723							
HP:0100724	biolink:PhenotypicFeature	Hypercoagulability	An abnormality of coagulation associated with an increased risk of thrombosis.	MSH:D019851|SNOMEDCT_US:234467004|SNOMEDCT_US:76612001|UMLS:C0398623	hp.json	Blood hyperviscosity|Thrombophilia	http://purl.obolibrary.org/obo/HP_0100724							
HP:0100725	biolink:PhenotypicFeature	Lichenification	Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.	SNOMEDCT_US:19940005|SNOMEDCT_US:402237006|UMLS:C0023653	hp.json		http://purl.obolibrary.org/obo/HP_0100725							
HP:0100726	biolink:PhenotypicFeature	Kaposi's sarcoma	A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).	MSH:D012514|SNOMEDCT_US:109385007|SNOMEDCT_US:49937004|UMLS:C0036220	hp.json		http://purl.obolibrary.org/obo/HP_0100726							
HP:0100727	biolink:PhenotypicFeature	Histiocytosis	An excessive number of histiocytes (tissue macrophages).	MSH:D015614|SNOMEDCT_US:60657004|SNOMEDCT_US:65396000|UMLS:C0019618	hp.json		http://purl.obolibrary.org/obo/HP_0100727							
HP:0100728	biolink:PhenotypicFeature	Germ cell neoplasia		NCIT:C3708|UMLS:C4021985	hp.json		http://purl.obolibrary.org/obo/HP_0100728							
HP:0100729	biolink:PhenotypicFeature	Large face		UMLS:C2748652	hp.json	Big face|Large face|Large facies	http://purl.obolibrary.org/obo/HP_0100729							
HP:0100730	biolink:PhenotypicFeature	Bronchogenic cyst	A rare congenital cystic lesion of the lungs in the mediastinum.	MSH:D001994|SNOMEDCT_US:268194008|SNOMEDCT_US:9550003|UMLS:C0006281	hp.json		http://purl.obolibrary.org/obo/HP_0100730							
HP:0100731	biolink:PhenotypicFeature	Transverse facial cleft	A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.	UMLS:C4020954	hp.json	Lateral facial cleft	http://purl.obolibrary.org/obo/HP_0100731							
HP:0100732	biolink:PhenotypicFeature	Pancreatic fibrosis		SNOMEDCT_US:25942009|UMLS:C0267952	hp.json		http://purl.obolibrary.org/obo/HP_0100732							
HP:0100733	biolink:PhenotypicFeature	Neoplasm of the parathyroid gland	A tumor (abnormal growth of tissue) of the parathyroid gland.	MSH:D010282|NCIT:C3262|SNOMEDCT_US:127020005|UMLS:C0030521	hp.json	Parathyroid neoplasia	http://purl.obolibrary.org/obo/HP_0100733							
HP:0100734	biolink:PhenotypicFeature	Abnormality of vertebral epiphysis morphology	An anomaly of one or more epiphyses of one or more vertebrae.	UMLS:C4020953	hp.json	Abnormal shape of the end part of the vertebra bone|Abnormality of the vertebral epiphyses	http://purl.obolibrary.org/obo/HP_0100734							
HP:0100735	biolink:PhenotypicFeature	Hypertensive crisis		SNOMEDCT_US:706882009|UMLS:C0020546	hp.json		http://purl.obolibrary.org/obo/HP_0100735							
HP:0100736	biolink:PhenotypicFeature	Abnormal soft palate morphology	An abnormality of the soft palate.	UMLS:C4021984	hp.json	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							
HP:0100737	biolink:PhenotypicFeature	Abnormal hard palate morphology		UMLS:C4021983	hp.json	Abnormality of the secondary palate|Abnormality of the hard palate	http://purl.obolibrary.org/obo/HP_0100737							
HP:0100738	biolink:PhenotypicFeature	Abnormal eating behavior	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.	UMLS:C4021982	hp.json	Abnormal eating behavior|Abnormal eating behaviour	http://purl.obolibrary.org/obo/HP_0100738							
HP:0100739	biolink:PhenotypicFeature	Bulimia	A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).	MSH:D002032|SNOMEDCT_US:78004001|UMLS:C0006370	hp.json	Binge and purge	http://purl.obolibrary.org/obo/HP_0100739							
HP:0100742	biolink:PhenotypicFeature	Vascular neoplasm	A benign or malignant neoplasm (tumour) originating in the vascular system.	MSH:D009383|MSH:D019043|NCIT:C3262|SNOMEDCT_US:115235003|SNOMEDCT_US:126736007|SNOMEDCT_US:699605009|UMLS:C0027668|UMLS:C0282607	hp.json	Blood vessel tumor|Blood vessel tumour	http://purl.obolibrary.org/obo/HP_0100742							
HP:0100743	biolink:PhenotypicFeature	Neoplasm of the rectum		MSH:D012004|NCIT:C3262|SNOMEDCT_US:126847008|UMLS:C0034885	hp.json	Rectal tumor|Rectal tumour	http://purl.obolibrary.org/obo/HP_0100743							
HP:0100744	biolink:PhenotypicFeature	Abnormality of the humeroradial joint		UMLS:C4021981	hp.json		http://purl.obolibrary.org/obo/HP_0100744							
HP:0100745	biolink:PhenotypicFeature	Abnormality of the humeroulnar joint	An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.	UMLS:C4021980	hp.json		http://purl.obolibrary.org/obo/HP_0100745							
HP:0100746	biolink:PhenotypicFeature	Macrodactyly of finger	A type of Macrodactyly affecting one or several fingers.	MSH:C537720|SNOMEDCT_US:297195000|UMLS:C0574044	hp.json	Macrodactyly of hands	http://purl.obolibrary.org/obo/HP_0100746							
HP:0100747	biolink:PhenotypicFeature	Macrodactyly of toe	A type of Macrodactyly affecting one or several toes.	MSH:C537719|UMLS:C2931596	hp.json	Foot macrodactyly	http://purl.obolibrary.org/obo/HP_0100747							
HP:0100748	biolink:PhenotypicFeature	Muscular edema		UMLS:C4021979	hp.json	Muscular oedema	http://purl.obolibrary.org/obo/HP_0100748							
HP:0100749	biolink:PhenotypicFeature	Chest pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.	MSH:D002637|SNOMEDCT_US:29857009|UMLS:C0008031	hp.json	Chest pain|Thoracic pain|Chest discomfort	http://purl.obolibrary.org/obo/HP_0100749							
HP:0100750	biolink:PhenotypicFeature	Atelectasis	Collapse of part of a lung associated with absence of inflation (air) of that part.	MSH:D001261|SNOMEDCT_US:46621007|UMLS:C0004144	hp.json	Partial or complete collapse of part or entire lung|Pulmonary atelectasis	http://purl.obolibrary.org/obo/HP_0100750							
HP:0100751	biolink:PhenotypicFeature	Esophageal neoplasm	A tumor (abnormal growth of tissue) of the esophagus.	MSH:D004938|NCIT:C3262|SNOMEDCT_US:126817006|UMLS:C0014859	hp.json	Esophageal tumor|Esophageal tumour	http://purl.obolibrary.org/obo/HP_0100751							
HP:0100752	biolink:PhenotypicFeature	Abnormal liver lobulation	Formation of abnormal lobules (small masses of tissue) in the liver.	SNOMEDCT_US:253811003|UMLS:C0345286	hp.json	Anomalous liver lobulation|Hepatic anomalous lobulation	http://purl.obolibrary.org/obo/HP_0100752							
HP:0100753	biolink:PhenotypicFeature	Schizophrenia	A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.	MSH:D012559|SNOMEDCT_US:191526005|SNOMEDCT_US:58214004|UMLS:C0036341	hp.json		http://purl.obolibrary.org/obo/HP_0100753							
HP:0100754	biolink:PhenotypicFeature	Mania	A state of abnormally elevated or irritable mood, arousal, and or energy levels.	MSH:D001714|SNOMEDCT_US:231494001|UMLS:C0338831	hp.json	Manic	http://purl.obolibrary.org/obo/HP_0100754							
HP:0100755	biolink:PhenotypicFeature	Abnormality of salivation		UMLS:C4021978	hp.json	Abnormal spit|Abnormality of salivation	http://purl.obolibrary.org/obo/HP_0100755							
HP:0100757	biolink:PhenotypicFeature	Pancreatoblastoma	A rare pediatric carcinoma of the pancreas.	MSH:C537162|SNOMEDCT_US:53618008|UMLS:C0334489	hp.json		http://purl.obolibrary.org/obo/HP_0100757							
HP:0100758	biolink:PhenotypicFeature	Gangrene	A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).	MSH:D005734|SNOMEDCT_US:36024000|SNOMEDCT_US:372070002|UMLS:C0017086	hp.json	Death of body tissue due to lack of blood flow or infection	http://purl.obolibrary.org/obo/HP_0100758							
HP:0100759	biolink:PhenotypicFeature	Clubbing of fingers	Terminal broadening of the fingers (distal phalanges of the fingers).	MEDDRA:10016680|MSH:D010005|SNOMEDCT_US:30760008|UMLS:C0009080	hp.json	Clubbed fingers|Clubbing (hands)|Clubbing of fingers|Finger clubbing	http://purl.obolibrary.org/obo/HP_0100759							hposlim_core
HP:0100760	biolink:PhenotypicFeature	Clubbing of toes	Terminal broadening of the toes (distal phalanges of the toes).	MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|SNOMEDCT_US:53148007|UMLS:C0009081|UMLS:C3887489	hp.json	Clubbed toes	http://purl.obolibrary.org/obo/HP_0100760							
HP:0100761	biolink:PhenotypicFeature	Visceral angiomatosis		UMLS:C4021977	hp.json		http://purl.obolibrary.org/obo/HP_0100761							
HP:0100762	biolink:PhenotypicFeature	Hemobilia	Bleeding into the biliary tree.	MSH:D006431|SNOMEDCT_US:66556007|UMLS:C0018994	hp.json	Haemobilia	http://purl.obolibrary.org/obo/HP_0100762							
HP:0100763	biolink:PhenotypicFeature	Abnormality of the lymphatic system	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.	MSH:D008206|SNOMEDCT_US:111590001|SNOMEDCT_US:234087005|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004|UMLS:C0024228|UMLS:C4021976	hp.json	Lymphatic disease	http://purl.obolibrary.org/obo/HP_0100763							
HP:0100764	biolink:PhenotypicFeature	Lymphangioma	Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.	MSH:D008202|NCIT:C8965|SNOMEDCT_US:253057002|SNOMEDCT_US:254836000|SNOMEDCT_US:400178008|SNOMEDCT_US:69044001|UMLS:C0024221	hp.json		http://purl.obolibrary.org/obo/HP_0100764							
HP:0100765	biolink:PhenotypicFeature	Abnormality of the tonsils	An abnormality of the tonsils.	UMLS:C4021975	hp.json		http://purl.obolibrary.org/obo/HP_0100765							
HP:0100766	biolink:PhenotypicFeature	Abnormal lymphatic vessel morphology	A structural anomaly of the vessel that contains or conveys lymph fluid.	UMLS:C4021974	hp.json	Abnormality of the lymphatic vessels	http://purl.obolibrary.org/obo/HP_0100766							
HP:0100767	biolink:PhenotypicFeature	Abnormal placenta morphology	An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.	SNOMEDCT_US:169957005|SNOMEDCT_US:33552005|UMLS:C1306893	hp.json	Placental issue|Abnormality of the placenta	http://purl.obolibrary.org/obo/HP_0100767							
HP:0100768	biolink:PhenotypicFeature	Choriocarcinoma	A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.	MSH:D002822|SNOMEDCT_US:188188009|SNOMEDCT_US:44769000|UMLS:C0008497	hp.json		http://purl.obolibrary.org/obo/HP_0100768							
HP:0100769	biolink:PhenotypicFeature	Synovitis		MSH:D013585|SNOMEDCT_US:416209007|UMLS:C0039103	hp.json		http://purl.obolibrary.org/obo/HP_0100769							
HP:0100770	biolink:PhenotypicFeature	Hyperperistalsis	Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.	SNOMEDCT_US:271838002|SNOMEDCT_US:80306002|UMLS:C0232474|UMLS:C0857071	hp.json	Stomach churning	http://purl.obolibrary.org/obo/HP_0100770							
HP:0100771	biolink:PhenotypicFeature	Hypoperistalsis	Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.	SNOMEDCT_US:77853002|UMLS:C0232475|UMLS:C4020700	hp.json	Intestinal hypoperistalsis	http://purl.obolibrary.org/obo/HP_0100771							
HP:0100773	biolink:PhenotypicFeature	Cartilage destruction		UMLS:C4021973	hp.json	Cartilage destruction	http://purl.obolibrary.org/obo/HP_0100773							
HP:0100774	biolink:PhenotypicFeature	Hyperostosis	Excessive growth or abnormal thickening of bone tissue.	MSH:D015576|SNOMEDCT_US:13814009|SNOMEDCT_US:203514008|UMLS:C0020492	hp.json	Bone overgrowth|Bone Hypertrophy	http://purl.obolibrary.org/obo/HP_0100774							
HP:0100775	biolink:PhenotypicFeature	Dural ectasia	A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.	UMLS:C1851712	hp.json		http://purl.obolibrary.org/obo/HP_0100775							
HP:0100776	biolink:PhenotypicFeature	Recurrent pharyngitis	An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.	UMLS:C0747556	hp.json	Recurrent sore throat|Pharyngitis, recurrent	http://purl.obolibrary.org/obo/HP_0100776							
HP:0100777	biolink:PhenotypicFeature	Exostoses	An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.	MSH:D005096|SNOMEDCT_US:416189003|SNOMEDCT_US:80400009|UMLS:C1442903	hp.json	Formation of new noncancerous bone on top of existing bone	http://purl.obolibrary.org/obo/HP_0100777							
HP:0100778	biolink:PhenotypicFeature	Cryoglobulinemia	Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.	MSH:D003449|SNOMEDCT_US:30911005|UMLS:C0010403	hp.json	Cryoprecipitable immune complexes	http://purl.obolibrary.org/obo/HP_0100778							
HP:0100779	biolink:PhenotypicFeature	Urogenital sinus anomaly	A rare birth defect in women where the urethra and vagina both open into a common channel.	UMLS:C4021972	hp.json		http://purl.obolibrary.org/obo/HP_0100779							
HP:0100780	biolink:PhenotypicFeature	Conjunctival hamartoma	A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.	UMLS:C4021849	hp.json		http://purl.obolibrary.org/obo/HP_0100780							
HP:0100781	biolink:PhenotypicFeature	Abnormal sacroiliac joint morphology	An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).	UMLS:C0262621	hp.json	Abnormality of the sacroiliac joint	http://purl.obolibrary.org/obo/HP_0100781							
HP:0100783	biolink:PhenotypicFeature	Breast aplasia	Failure to develop and congenital absence of the breast.	SNOMEDCT_US:111324004|UMLS:C0266009	hp.json	Absent breast|Congenital absence of breast|Mammary gland aplasia	http://purl.obolibrary.org/obo/HP_0100783							
HP:0100784	biolink:PhenotypicFeature	Peripheral arteriovenous fistula		UMLS:C4021971	hp.json		http://purl.obolibrary.org/obo/HP_0100784							
HP:0100785	biolink:PhenotypicFeature	Insomnia	Persistent difficulty initiating or maintaining sleep.	MSH:D007319|SNOMEDCT_US:193462001|UMLS:C0917801	hp.json	Difficulty staying or falling asleep|Fragmented sleep	http://purl.obolibrary.org/obo/HP_0100785							
HP:0100786	biolink:PhenotypicFeature	Hypersomnia		MSH:D006970|SNOMEDCT_US:77692006|UMLS:C0917799	hp.json	Excessive sleepiness	http://purl.obolibrary.org/obo/HP_0100786							
HP:0100787	biolink:PhenotypicFeature	Prostate neoplasm		MSH:D011471|SNOMEDCT_US:126906006|UMLS:C0033578	hp.json		http://purl.obolibrary.org/obo/HP_0100787							
HP:0100788	biolink:PhenotypicFeature	Fused lips	Lack of separation of the upper and lower lips.	UMLS:C4021970	hp.json	Adhesion of upper and lower lips|Fused lips|Fusion of upper and lower lips	http://purl.obolibrary.org/obo/HP_0100788							hposlim_core
HP:0100789	biolink:PhenotypicFeature	Torus palatinus	A bony protrusion present on the midline of the hard palate.	SNOMEDCT_US:244683008|SNOMEDCT_US:46752004|SNOMEDCT_US:697945009|UMLS:C0266981|UMLS:C0447996|UMLS:C1840236	hp.json	Maxillary torus|Palatal tori|Palatal torus|Palate exostoses|Prominent midpalatal ridge	http://purl.obolibrary.org/obo/HP_0100789							hposlim_core
HP:0100790	biolink:PhenotypicFeature	Hernia		MSH:D006547|SNOMEDCT_US:414403008|SNOMEDCT_US:52515009|UMLS:C0019270	hp.json	Hernias	http://purl.obolibrary.org/obo/HP_0100790							
HP:0100792	biolink:PhenotypicFeature	Acantholysis	The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.	MSH:D000051|SNOMEDCT_US:43327007|SNOMEDCT_US:441837004|UMLS:C0000887|UMLS:C0241128	hp.json	Nikolsky's sign	http://purl.obolibrary.org/obo/HP_0100792							
HP:0100795	biolink:PhenotypicFeature	Abnormally straight spine	The absence of the normal curvature of the vertebral column.	UMLS:C4021969	hp.json	Abnormally straight spine	http://purl.obolibrary.org/obo/HP_0100795							hposlim_core
HP:0100796	biolink:PhenotypicFeature	Orchitis	Testicular inflammation.	MSH:D009920|SNOMEDCT_US:274718005|UMLS:C0029191	hp.json	Inflammation of testicles	http://purl.obolibrary.org/obo/HP_0100796							
HP:0100797	biolink:PhenotypicFeature	Toenail dysplasia	An abnormality of the development of the toenails.	UMLS:C3276623	hp.json	Abnormal toenail development|Dysplastic toenails	http://purl.obolibrary.org/obo/HP_0100797							
HP:0100798	biolink:PhenotypicFeature	Fingernail dysplasia	An abnormality of the development of the fingernails.	UMLS:C4020952	hp.json	Abnormal fingernail development|Dysplastic fingernails	http://purl.obolibrary.org/obo/HP_0100798							
HP:0100799	biolink:PhenotypicFeature	Neoplasm of the middle ear	A tumor (abnormal growth of tissue) of the middle ear.	NCIT:C3262|SNOMEDCT_US:127006003|UMLS:C0345617	hp.json	Middle ear tumor|Middle ear tumour|Neoplasia of the middle ear	http://purl.obolibrary.org/obo/HP_0100799							
HP:0100800	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the pancreas	A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.	UMLS:C4021968	hp.json	Absent/small pancreas|Absent/underdeveloped pancreas	http://purl.obolibrary.org/obo/HP_0100800							
HP:0100801	biolink:PhenotypicFeature	Pancreatic aplasia	Aplasia of the pancreas.	UMLS:C4021967	hp.json	Absent pancreas	http://purl.obolibrary.org/obo/HP_0100801							
HP:0100802	biolink:PhenotypicFeature	Malposition of the stomach	Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.	UMLS:C1402983	hp.json	Abnormal stomach location|Gastric ectopia|Gastric malposition	http://purl.obolibrary.org/obo/HP_0100802							
HP:0100803	biolink:PhenotypicFeature	Abnormality of the periungual region	An abnormality of the region around the nails of the fingers or toes.	UMLS:C4021966	hp.json		http://purl.obolibrary.org/obo/HP_0100803							
HP:0100804	biolink:PhenotypicFeature	Ungual fibroma	Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).	SNOMEDCT_US:264561009|UMLS:C0442880	hp.json	Koenen tumour|Koenen's tumour|Koenen tumor|Koenen's tumor|Parungual fibromas|Periungual fibroma	http://purl.obolibrary.org/obo/HP_0100804							
HP:0100805	biolink:PhenotypicFeature	obsolete Precocious menopause			hp.json		http://purl.obolibrary.org/obo/HP_0100805							
HP:0100806	biolink:PhenotypicFeature	Sepsis	Systemic inflammatory response to infection.	MSH:D018805|UMLS:C0036690	hp.json	Infection in blood stream	http://purl.obolibrary.org/obo/HP_0100806							
HP:0100807	biolink:PhenotypicFeature	Long fingers	The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.	UMLS:C1858091	hp.json	Long fingers	http://purl.obolibrary.org/obo/HP_0100807							
HP:0100808	biolink:PhenotypicFeature	Gastric diverticulum	An outpouching of the gastric wall.	MSH:D013273|SNOMEDCT_US:75198005|UMLS:C0038355	hp.json	Stomach diverticulum	http://purl.obolibrary.org/obo/HP_0100808							
HP:0100809	biolink:PhenotypicFeature	Scalp tenderness	Pain or discomfort of the scalp elicited by palpation.	MEDDRA:10039521|SNOMEDCT_US:75851004|UMLS:C0151206|UMLS:C0240940|UMLS:C4073183	hp.json	Scalp pain|Scalp tenderness|Scalp hypersensitivity|Allodynia of scalp	http://purl.obolibrary.org/obo/HP_0100809							
HP:0100810	biolink:PhenotypicFeature	Pointed helix		UMLS:C4020951	hp.json	Pointed ear|Spock's ear|Elfin ear|Spock ear|Vulcan ear	http://purl.obolibrary.org/obo/HP_0100810							
HP:0100811	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the colon	Congenital absence or underdevelopment of the colon.	UMLS:C4021964	hp.json	Absent/small colon|Absent/underdeveloped colon	http://purl.obolibrary.org/obo/HP_0100811							
HP:0100812	biolink:PhenotypicFeature	Halitosis	Noticeably unpleasant odors exhaled in breathing.	MEDDRA:10006326|MSH:D006209|SNOMEDCT_US:79879001|UMLS:C0018520	hp.json	Bad breath|Foetor ex ore	http://purl.obolibrary.org/obo/HP_0100812							hposlim_core
HP:0100813	biolink:PhenotypicFeature	Testicular torsion	Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.	MSH:D013086|SNOMEDCT_US:49198006|SNOMEDCT_US:81996005|UMLS:C0037856	hp.json	Spermatic cord torsion	http://purl.obolibrary.org/obo/HP_0100813							
HP:0100814	biolink:PhenotypicFeature	Blue nevus		MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985|UMLS:C4020699	hp.json	Mongolian spot|Congenital dermal melanocytosis	http://purl.obolibrary.org/obo/HP_0100814							
HP:0100816	biolink:PhenotypicFeature	Lip hyperpigmentation		UMLS:C4021963	hp.json	Darkening of skin of the lips|Increased pigmentation on the lips|Hyperpigmentation of lip vermillion	http://purl.obolibrary.org/obo/HP_0100816							
HP:0100817	biolink:PhenotypicFeature	Renovascular hypertension	The presence of hypertension related to stenosis of the renal artery.	MSH:D006978|SNOMEDCT_US:123799005|UMLS:C0020545	hp.json	Hypertension due to renal artery hyperplasia	http://purl.obolibrary.org/obo/HP_0100817							
HP:0100818	biolink:PhenotypicFeature	Long thorax	Increased inferior to superior extent of the thorax.	SNOMEDCT_US:298710001|UMLS:C0575484	hp.json	Long rib cage	http://purl.obolibrary.org/obo/HP_0100818							hposlim_core
HP:0100819	biolink:PhenotypicFeature	Intestinal fistula	An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.	MEDDRA:10022647|MSH:D007412|SNOMEDCT_US:38851006|UMLS:C0021833	hp.json		http://purl.obolibrary.org/obo/HP_0100819							hposlim_core
HP:0100820	biolink:PhenotypicFeature	Glomerulopathy	Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.	SNOMEDCT_US:197679002|UMLS:C0268731	hp.json	Diseased glomeruli	http://purl.obolibrary.org/obo/HP_0100820							
HP:0100821	biolink:PhenotypicFeature	Urethrocele	The prolapse of the female urethra into the vagina.	ICD-9:618.03|SNOMEDCT_US:12068006|UMLS:C0238502	hp.json		http://purl.obolibrary.org/obo/HP_0100821							
HP:0100822	biolink:PhenotypicFeature	Rectocele	A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.	ICD-9:618.04|MSH:D020047|SNOMEDCT_US:447072005|SNOMEDCT_US:62730001|UMLS:C0149771	hp.json		http://purl.obolibrary.org/obo/HP_0100822							
HP:0100823	biolink:PhenotypicFeature	Genital hernia		UMLS:C4021962	hp.json		http://purl.obolibrary.org/obo/HP_0100823							
HP:0100825	biolink:PhenotypicFeature	Cheilitis	Inflammation of the lip.	MSH:D002613|SNOMEDCT_US:7847004|UMLS:C0007971|UMLS:C4280288	hp.json	Inflammation of the lips|Red and sore lips	http://purl.obolibrary.org/obo/HP_0100825							hposlim_core
HP:0100826	biolink:PhenotypicFeature	Neoplasm of the nail	A tumor (abnormal growth of tissue) of the nail.	NCIT:C3262|UMLS:C4021961	hp.json	Nail tumor|Nail tumour	http://purl.obolibrary.org/obo/HP_0100826							
HP:0100827	biolink:PhenotypicFeature	Lymphocytosis	Increase in the number or proportion of lymphocytes in the blood.	MSH:D008218|SNOMEDCT_US:67023009|UMLS:C0024282	hp.json	High lymphocyte count	http://purl.obolibrary.org/obo/HP_0100827							
HP:0100828	biolink:PhenotypicFeature	Increased T cell count	An abnormal increase in the total number of T cells detected in the blood.	UMLS:C4021960	hp.json	Increase in T cell count|Increase in T cell number	http://purl.obolibrary.org/obo/HP_0100828							
HP:0100829	biolink:PhenotypicFeature	Galactorrhea	Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.	MSH:D005687|UMLS:C3665358	hp.json	Spontaneous milk flow from breast|Galactorrhoea	http://purl.obolibrary.org/obo/HP_0100829							
HP:0100830	biolink:PhenotypicFeature	Round ear		UMLS:C4021959	hp.json	Round ear	http://purl.obolibrary.org/obo/HP_0100830							
HP:0100831	biolink:PhenotypicFeature	Abnormality of vitamin K metabolism	Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.	UMLS:C4021958	hp.json	Abnormality of vitamin K metabolism	http://purl.obolibrary.org/obo/HP_0100831							
HP:0100832	biolink:PhenotypicFeature	Vitreous floaters	Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.	SNOMEDCT_US:15013002|SNOMEDCT_US:162278001|SNOMEDCT_US:420999000|UMLS:C0016242|UMLS:C1720491	hp.json	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							
HP:0100833	biolink:PhenotypicFeature	Neoplasm of the small intestine	The presence of a neoplasm of the small intestine.	NCIT:C3262|SNOMEDCT_US:126832004|UMLS:C0345832	hp.json	Small intestine tumor|Small intestine tumour	http://purl.obolibrary.org/obo/HP_0100833							
HP:0100834	biolink:PhenotypicFeature	Neoplasm of the large intestine	The presence of a neoplasm of the large intestine.	MSH:D015179|NCIT:C3262|SNOMEDCT_US:126837005|UMLS:C0009404	hp.json	Large intestine tumor|Large intestine tumour	http://purl.obolibrary.org/obo/HP_0100834							
HP:0100835	biolink:PhenotypicFeature	Benign neoplasm of the central nervous system		SNOMEDCT_US:92048008|UMLS:C0347509	hp.json	Benign neoplasm of the CNS	http://purl.obolibrary.org/obo/HP_0100835							
HP:0100836	biolink:PhenotypicFeature	Malignant neoplasm of the central nervous system	A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.	SNOMEDCT_US:372062007|UMLS:C0348374	hp.json	Malignant neoplasm of the CNS	http://purl.obolibrary.org/obo/HP_0100836							
HP:0100837	biolink:PhenotypicFeature	Atrophodermia vermiculata	Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.	MSH:C537412|SNOMEDCT_US:400059005|SNOMEDCT_US:400126005|UMLS:C0263428	hp.json	Vermiculata atrophoderma	http://purl.obolibrary.org/obo/HP_0100837							
HP:0100838	biolink:PhenotypicFeature	Recurrent cutaneous abscess formation	An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.	UMLS:C4021957	hp.json		http://purl.obolibrary.org/obo/HP_0100838							
HP:0100839	biolink:PhenotypicFeature	Hepatic agenesis	Absence of the liver owing to a failure of the liver to develop.	SNOMEDCT_US:3650004|UMLS:C0266258	hp.json	Failed liver development|Liver agenesis	http://purl.obolibrary.org/obo/HP_0100839							
HP:0100840	biolink:PhenotypicFeature	Aplasia/Hypoplasia of the eyebrow	Absence or underdevelopment of the eyebrow.	UMLS:C1848765|UMLS:C2266639|UMLS:C3551430|UMLS:C4021956	hp.json	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							
HP:0100841	biolink:PhenotypicFeature	Microgastria	A developmental anomaly wtih a small tubular or saccular midline stomach.	SNOMEDCT_US:83714006|UMLS:C0266150	hp.json		http://purl.obolibrary.org/obo/HP_0100841							
HP:0100842	biolink:PhenotypicFeature	Septo-optic dysplasia	Underdevelopment of the optic nerve and absence of the septum pellucidum.	MSH:D025962|SNOMEDCT_US:7611002|UMLS:C0338503	hp.json	De Morsier syndrome	http://purl.obolibrary.org/obo/HP_0100842							
HP:0100843	biolink:PhenotypicFeature	obsolete Glioblastoma			hp.json		http://purl.obolibrary.org/obo/HP_0100843							
HP:0100844	biolink:PhenotypicFeature	Pancreatic fistula		MSH:D010185|SNOMEDCT_US:25803005|UMLS:C0030290	hp.json		http://purl.obolibrary.org/obo/HP_0100844							
HP:0100845	biolink:PhenotypicFeature	Anaphylactic shock	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.	MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792	hp.json	Anaphylaxis	http://purl.obolibrary.org/obo/HP_0100845							
HP:0100847	biolink:PhenotypicFeature	Palmoplantar pustulosis	A chronic, relapsing, pustular eruption that is localized to the palms and soles.	MEDDRA:10050185|MSH:D011565|SNOMEDCT_US:27520001|UMLS:C0030246	hp.json	Palmoplantar pustules|Pustulosis of palms and soles|Pustulosis palmaris et plantaris	http://purl.obolibrary.org/obo/HP_0100847							
HP:0100848	biolink:PhenotypicFeature	Neoplasm of the male external genitalia	A tumor (abnormal growth of tissue) of the male external genitalia.	NCIT:C3262|UMLS:C4020950	hp.json	Neoplasia of the male external genitalia	http://purl.obolibrary.org/obo/HP_0100848							
HP:0100849	biolink:PhenotypicFeature	Neoplasm of the scrotum	A tumor (abnormal growth of tissue) of the scrotum.	NCIT:C3262|SNOMEDCT_US:126905005|UMLS:C0341790	hp.json	Scrotum tumor|Scrotum tumour|Neoplasia of the scrotum	http://purl.obolibrary.org/obo/HP_0100849							
HP:0100850	biolink:PhenotypicFeature	Neoplasm of the penis	A tumor (abnormal growth of tissue) of the penis.	MSH:D010412|NCIT:C3262|SNOMEDCT_US:126896003|UMLS:C0030849	hp.json	Penis tumor|Penis tumour|Neoplasia of the penis	http://purl.obolibrary.org/obo/HP_0100850							
HP:0100851	biolink:PhenotypicFeature	Abnormal emotion/affect behavior	An abnormality of emotional behaviour.	UMLS:C4020949	hp.json	Abnormal emotion/affect behaviour	http://purl.obolibrary.org/obo/HP_0100851							
HP:0100852	biolink:PhenotypicFeature	Abnormal fear/anxiety-related behavior	An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.	UMLS:C4018849	hp.json	Abnormal fear/anxiety-related behaviour	http://purl.obolibrary.org/obo/HP_0100852							
HP:0100853	biolink:PhenotypicFeature	Hypoplastic areola	Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.	UMLS:C3276032	hp.json	Hypoplastic areolae	http://purl.obolibrary.org/obo/HP_0100853							hposlim_core
HP:0100854	biolink:PhenotypicFeature	Aplasia of the musculature	Absence of the musculature.	UMLS:C4021955	hp.json	Absent musculature	http://purl.obolibrary.org/obo/HP_0100854							
HP:0100855	biolink:PhenotypicFeature	Triceps hypoplasia	Hypoplasia of the triceps muscle.	UMLS:C4021954	hp.json	Small triceps|Underdeveloped triceps	http://purl.obolibrary.org/obo/HP_0100855							
HP:0100856	biolink:PhenotypicFeature	Poorly ossified vertebrae	Decreased ossification of the vertebral bodies.	UMLS:C4021953	hp.json		http://purl.obolibrary.org/obo/HP_0100856							
HP:0100857	biolink:PhenotypicFeature	Flat sella turcica	An abnormally flat sella turcica.	UMLS:C4021952	hp.json		http://purl.obolibrary.org/obo/HP_0100857							
HP:0100858	biolink:PhenotypicFeature	Dilatation of celiac artery	Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.	SNOMEDCT_US:111290000|UMLS:C0264969	hp.json	Dilatation of coeliac artery|Coeliac artery aneurysm|Celiac artery aneurysm	http://purl.obolibrary.org/obo/HP_0100858							
HP:0100859	biolink:PhenotypicFeature	Dilatation of superior mesenteric artery	Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .	SNOMEDCT_US:65498003|UMLS:C0264974	hp.json	Superior mesenteric artery aneurysm	http://purl.obolibrary.org/obo/HP_0100859							
HP:0100860	biolink:PhenotypicFeature	Dilatation of Inferior mesenteric artery	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .	SNOMEDCT_US:195289005|UMLS:C0340625	hp.json	Inferior mesenteric artery aneurysm	http://purl.obolibrary.org/obo/HP_0100860							
HP:0100861	biolink:PhenotypicFeature	Sclerotic vertebral body	Increase in bone density of the vertebral body.	UMLS:C4021951	hp.json	Vertebral body sclerosis	http://purl.obolibrary.org/obo/HP_0100861							
HP:0100862	biolink:PhenotypicFeature	Aplasia of the femoral head		UMLS:C4021950	hp.json	Absent femoral head	http://purl.obolibrary.org/obo/HP_0100862							
HP:0100863	biolink:PhenotypicFeature	Aplasia of the femoral neck		UMLS:C4021949	hp.json	Absent neck of thighbone	http://purl.obolibrary.org/obo/HP_0100863							
HP:0100864	biolink:PhenotypicFeature	Short femoral neck	An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	UMLS:C1836184	hp.json	Short neck of thighbone|Hypoplasia of the femoral neck|Hypoplastic femoral neck|Short femoral necks	http://purl.obolibrary.org/obo/HP_0100864							hposlim_core
HP:0100865	biolink:PhenotypicFeature	Broad ischia	Increased width of the ischium, which forms the lower and back part of the hip bone.	UMLS:C1836868	hp.json		http://purl.obolibrary.org/obo/HP_0100865							
HP:0100866	biolink:PhenotypicFeature	Short iliac bones	Underdevelopment of the iliac bones.	UMLS:C1849063	hp.json	Short pelvis bones	http://purl.obolibrary.org/obo/HP_0100866							
HP:0100867	biolink:PhenotypicFeature	Duodenal stenosis	The narrowing or partial blockage of a portion of the duodenum.	MEDDRA:10050094|MSH:C535720|SNOMEDCT_US:73120006|UMLS:C0238093|UMLS:C1860791	hp.json	Duodenal stenosis/atresia	http://purl.obolibrary.org/obo/HP_0100867							hposlim_core
HP:0100869	biolink:PhenotypicFeature	Palmar telangiectasia	The presence of telangiectases on the skin of palm of hand.	UMLS:C4020948	hp.json	Telangiectases of palms and soles|Teleangiectases of palms	http://purl.obolibrary.org/obo/HP_0100869							
HP:0100870	biolink:PhenotypicFeature	Plantar telangiectasia	Telangiectases (small dilated blood vessels) located on the skin of sole of foot.	UMLS:C4020947	hp.json	Plantar teleangiectasia|Telangiectases of soles|Teleangiectases of soles	http://purl.obolibrary.org/obo/HP_0100870							
HP:0100871	biolink:PhenotypicFeature	Abnormality of the palm	An abnormality of the palm, that is, of the front of the hand.	UMLS:C4021948	hp.json	Abnormality of the palm	http://purl.obolibrary.org/obo/HP_0100871							
HP:0100872	biolink:PhenotypicFeature	Abnormality of the plantar skin of foot	An abnormality of the plantar part of foot, that is of the soles of the feet.	UMLS:C4020946	hp.json	Minor feet anomalies	http://purl.obolibrary.org/obo/HP_0100872							
HP:0100874	biolink:PhenotypicFeature	Thick hair	Increased density of hairs, i.e., and elevated number of hairs per unit area.	UMLS:C4073184	hp.json	Increased hair density|Thick hair|Increased follicular density	http://purl.obolibrary.org/obo/HP_0100874							hposlim_core
HP:0100875	biolink:PhenotypicFeature	Hemimacroglossia	Increased length and width of one half of the tounge.	UMLS:C4021947|UMLS:C4280287	hp.json	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							
HP:0100876	biolink:PhenotypicFeature	Infra-orbital crease	Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.	UMLS:C1857280	hp.json	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							hposlim_core
HP:0100877	biolink:PhenotypicFeature	Renal diverticulum	Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.	SNOMEDCT_US:433036004|UMLS:C2315541	hp.json	Caliceal diverticulum|Pelvic diverticulum|Renal pelvic diverticulum	http://purl.obolibrary.org/obo/HP_0100877							
HP:0100878	biolink:PhenotypicFeature	Enlarged uterus		SNOMEDCT_US:198319004|UMLS:C0151994	hp.json	Enlarged uterus	http://purl.obolibrary.org/obo/HP_0100878							
HP:0100879	biolink:PhenotypicFeature	Enlarged ovaries		SNOMEDCT_US:66998000|UMLS:C0392039	hp.json	Enlarged ovaries	http://purl.obolibrary.org/obo/HP_0100879							
HP:0100880	biolink:PhenotypicFeature	Nephrogenic rest	Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.	SNOMEDCT_US:405933007|UMLS:C1320468	hp.json		http://purl.obolibrary.org/obo/HP_0100880							
HP:0100881	biolink:PhenotypicFeature	Congenital mesoblastic nephroma	Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.	MSH:D018201|UMLS:C1332965	hp.json		http://purl.obolibrary.org/obo/HP_0100881							
HP:0100882	biolink:PhenotypicFeature	Fibrous hamartoma	A rare, benign soft tissue tumor that typically occurs within the first two years of life.	SNOMEDCT_US:22257004|SNOMEDCT_US:56364004|UMLS:C0265979	hp.json	Fibrous hamartoma of infancy	http://purl.obolibrary.org/obo/HP_0100882							
HP:0100883	biolink:PhenotypicFeature	Chorangioma	Hamartoma-like growth in the placenta consisting of blood vessels.	MSH:D006391|SNOMEDCT_US:2099007|SNOMEDCT_US:237268002|SNOMEDCT_US:699948001|UMLS:C0677608	hp.json	Placental hamartoma	http://purl.obolibrary.org/obo/HP_0100883							
HP:0100884	biolink:PhenotypicFeature	Compensatory scoliosis	A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.	SNOMEDCT_US:203645000|UMLS:C0343292	hp.json		http://purl.obolibrary.org/obo/HP_0100884							
HP:0100885	biolink:PhenotypicFeature	Lateral venous anomaly	Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.	UMLS:C4020945	hp.json	Lateral marginal vein of Servelle|Vein of servelle	http://purl.obolibrary.org/obo/HP_0100885							
HP:0100886	biolink:PhenotypicFeature	Abnormality of globe location	An abnormality in the placement of the ocular globe (eyeball).	UMLS:C4021946	hp.json	Abnormality of eyeball location|Abnormality of eyeball position|Abnormality of globe position	http://purl.obolibrary.org/obo/HP_0100886							
HP:0100887	biolink:PhenotypicFeature	Abnormality of globe size	An abnormality in the size of the ocular globe (eyeball).	UMLS:C4021945	hp.json	Abnormality of eyeball size|Eye size difference	http://purl.obolibrary.org/obo/HP_0100887							
HP:0100888	biolink:PhenotypicFeature	Interdigital loops		UMLS:C4021944	hp.json		http://purl.obolibrary.org/obo/HP_0100888							
HP:0100889	biolink:PhenotypicFeature	Abnormality of the ductus choledochus	An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.	UMLS:C4020944	hp.json	Abnormality of the common bile duct	http://purl.obolibrary.org/obo/HP_0100889							
HP:0100890	biolink:PhenotypicFeature	Cyst of the ductus choledochus		MSH:D015529|SNOMEDCT_US:397868007|SNOMEDCT_US:398197009|SNOMEDCT_US:440471007|UMLS:C0008340	hp.json	Choledochal cyst	http://purl.obolibrary.org/obo/HP_0100890							
HP:0100891	biolink:PhenotypicFeature	Bifid xiphoid process	A cleft of the xiphoid process of the sternum.	UMLS:C4020943	hp.json	Bifid xiphisternum	http://purl.obolibrary.org/obo/HP_0100891							
HP:0100892	biolink:PhenotypicFeature	Abnormality of the xiphoid process	An abnormality of the xiphoid process of the sternum.	UMLS:C4021943	hp.json		http://purl.obolibrary.org/obo/HP_0100892							
HP:0100893	biolink:PhenotypicFeature	Prominent xiphoid process	Increased prominence of the xiphoid process of the sternum.	UMLS:C4020942	hp.json	Prominent xiphisternum	http://purl.obolibrary.org/obo/HP_0100893							
HP:0100894	biolink:PhenotypicFeature	Broad xiphoid process	Increased side-to-side width of the xiphoid process of the sternum.	UMLS:C4020901	hp.json	Broad xiphisternum	http://purl.obolibrary.org/obo/HP_0100894							
HP:0100896	biolink:PhenotypicFeature	Rectal polyposis	The presence of multiple rectal hyperplastic/adenomatous polyps.	SNOMEDCT_US:39772007|UMLS:C0034887	hp.json	Multiple rectal polyps|Rectal polyps	http://purl.obolibrary.org/obo/HP_0100896							
HP:0100898	biolink:PhenotypicFeature	Connective tissue nevi	Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.	MSH:C562737|SNOMEDCT_US:22858003|SNOMEDCT_US:400091006|UMLS:C0334083	hp.json		http://purl.obolibrary.org/obo/HP_0100898							
HP:0100899	biolink:PhenotypicFeature	Sclerosis of finger phalanx	An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020941	hp.json	Increased bone density in the finger bone|Sclerosis of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100899							
HP:0100900	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 2nd finger		UMLS:C4021942	hp.json	Increased bone density in the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0100900							
HP:0100901	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 3rd finger		UMLS:C4021941	hp.json	Increased bone density in the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0100901							
HP:0100902	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 4th finger		UMLS:C4021940	hp.json	Increased bone density in the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0100902							
HP:0100903	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 5th finger		UMLS:C4021939	hp.json	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	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 2nd finger		UMLS:C4021938	hp.json	Increased bone density in the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0100904							
HP:0100905	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 3rd finger		UMLS:C4021937	hp.json	Increased bone density in the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0100905							
HP:0100906	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 4th finger		UMLS:C4021936	hp.json	Increased bone density in the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0100906							
HP:0100907	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 5th finger		UMLS:C4021935	hp.json	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	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 2nd finger		UMLS:C4021934	hp.json	Increased bone density in the innermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0100908							
HP:0100909	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 3rd finger		UMLS:C4021933	hp.json	Increased bone density in innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0100909							
HP:0100910	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 4th finger		UMLS:C4021932	hp.json	Increased bone density in the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0100910							
HP:0100911	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 5th finger		UMLS:C4021931	hp.json	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	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the thumb	An elevation of bone density in the distal phalanx of the thumb.	UMLS:C4021930	hp.json	Increased bone density in the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0100912							
HP:0100913	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the thumb	An elevation of bone density in the proximal phalanx of the thumb.	UMLS:C4021929	hp.json	Increased bone density in the innermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0100913							
HP:0100914	biolink:PhenotypicFeature	Sclerosis of the 1st metacarpal		UMLS:C4021928	hp.json	Increased bone density in 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0100914							
HP:0100915	biolink:PhenotypicFeature	Sclerosis of distal finger phalanx	An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020940	hp.json	Increased bone density in outermost finger bone|Sclerosis of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100915							
HP:0100916	biolink:PhenotypicFeature	Sclerosis of middle finger phalanx	An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020939	hp.json	Increased bone density in middle finger bone of hand|Sclerosis of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100916							
HP:0100917	biolink:PhenotypicFeature	Sclerosis of proximal finger phalanx	An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020938	hp.json	Increased bone density in innermost finger bone|Sclerosis of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100917							
HP:0100918	biolink:PhenotypicFeature	Sclerosis of 2nd finger phalanx	An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020937	hp.json	Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0100918							
HP:0100919	biolink:PhenotypicFeature	Sclerosis of 3rd finger phalanx	An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020936	hp.json	Increased bone density in middle finger bone|Sclerosis of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0100919							
HP:0100920	biolink:PhenotypicFeature	Sclerosis of 4th finger phalanx	An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020935	hp.json	Increased bone density in ring finger bone|Sclerosis of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0100920							
HP:0100921	biolink:PhenotypicFeature	Sclerosis of 5th finger phalanx	An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020934	hp.json	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							
HP:0100922	biolink:PhenotypicFeature	Sclerosis of thumb phalanx		UMLS:C4020933	hp.json	Increased bone density in thumb bone|Sclerosis of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0100922							
HP:0100923	biolink:PhenotypicFeature	Clavicular sclerosis	An increase in bone density within the clavicle.	UMLS:C3554669	hp.json	Increased bone density in collarbone|Osteosclerosis of the clavicle|Osteosclerosis of the clavicles	http://purl.obolibrary.org/obo/HP_0100923							
HP:0100924	biolink:PhenotypicFeature	Sclerosis of toe phalanx	An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020932	hp.json	Increased bone density in the toe bone|Sclerosis of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100924							
HP:0100925	biolink:PhenotypicFeature	Sclerosis of foot bone	An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020931	hp.json	Increased bone density in foot bone|Sclerosis of bones of the feet	http://purl.obolibrary.org/obo/HP_0100925							
HP:0100926	biolink:PhenotypicFeature	Sclerosis of 2nd toe phalanx	An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020930	hp.json	Increased bone density in 2nd toe bone|Sclerosis of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100926							
HP:0100927	biolink:PhenotypicFeature	Sclerosis of 3rd toe phalanx	An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020929	hp.json	Increased bone density in 3rd toe bone|Sclerosis of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100927							
HP:0100928	biolink:PhenotypicFeature	Sclerosis of 4th toe phalanx	An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020928	hp.json	Increased bone density in 4th toe bone|Sclerosis of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0100928							
HP:0100929	biolink:PhenotypicFeature	Sclerosis of 5th toe phalanx	An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020927	hp.json	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							
HP:0100930	biolink:PhenotypicFeature	Sclerosis of hallux phalanx	An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020926	hp.json	Increased bone density in big toe bone|Sclerosis of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0100930							
HP:0100931	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 2nd toe	An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4021927	hp.json	Increased bone density in the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100931							
HP:0100932	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 3rd toe	An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4021926	hp.json	Increased bone density in the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100932							
HP:0100933	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 4th toe		UMLS:C4021925	hp.json	Increased bone density in the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100933							
HP:0100934	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the 5th toe		UMLS:C4021924	hp.json	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	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 2nd toe		UMLS:C4021923	hp.json	Increased bone density in the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100935							
HP:0100936	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 3rd toe	An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4021922	hp.json	Increased bone density in the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100936							
HP:0100937	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 4th toe		UMLS:C4021921	hp.json	Increased bone density in the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100937							
HP:0100938	biolink:PhenotypicFeature	Sclerosis of the middle phalanx of the 5th toe		UMLS:C4021920	hp.json	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	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 2nd toe		UMLS:C4021919	hp.json	Increased bone density in the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100939							
HP:0100940	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 3rd toe	An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4021918	hp.json	Increased bone density in the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100940							
HP:0100941	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 4th toe		UMLS:C4021917	hp.json	Increased bone density in the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100941							
HP:0100942	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the 5th toe		UMLS:C4021916	hp.json	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	biolink:PhenotypicFeature	Sclerosis of the proximal phalanx of the hallux		UMLS:C4021915	hp.json	Increased bone density in the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0100943							
HP:0100944	biolink:PhenotypicFeature	Sclerosis of the distal phalanx of the hallux		UMLS:C4021914	hp.json	Increased bone density in the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0100944							
HP:0100945	biolink:PhenotypicFeature	Sclerosis of the 1st metatarsal		UMLS:C4021913	hp.json	Increased bone density in the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0100945							
HP:0100946	biolink:PhenotypicFeature	Sclerosis of proximal toe phalanx	An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020925	hp.json	Increased bone density in innermost toe bone|Sclerosis of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100946							
HP:0100947	biolink:PhenotypicFeature	Sclerosis of middle toe phalanx	An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020924	hp.json	Increased bone density in middle toe bone|Sclerosis of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100947							
HP:0100948	biolink:PhenotypicFeature	Sclerosis of distal toe phalanx	An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.	UMLS:C4020923	hp.json	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							
HP:0100950	biolink:PhenotypicFeature	Decreased 3-hydroxyacyl-CoA dehydrogenase level		MSH:C566945|SNOMEDCT_US:237999008|UMLS:C1969443	hp.json	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	biolink:PhenotypicFeature	Enlarged fossa interpeduncularis		UMLS:C4020922	hp.json	Enlarged basal cistern|Enlarged interpeduncular cistern	http://purl.obolibrary.org/obo/HP_0100951							
HP:0100952	biolink:PhenotypicFeature	Enlarged sylvian cistern	An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).	UMLS:C4020921	hp.json	Enlarged lateral fissure|Enlarged lateral sulcus|Enlarged sylvian fissure	http://purl.obolibrary.org/obo/HP_0100952							
HP:0100953	biolink:PhenotypicFeature	Enlarged interhemispheric fissure		UMLS:C4020920	hp.json	Enlarged great longitudinal fissure|Enlarged longitudinal cerebral fissure|Enlarged longitudinal fissure	http://purl.obolibrary.org/obo/HP_0100953							
HP:0100954	biolink:PhenotypicFeature	Open operculum	Underdevelopment of the operculum.	UMLS:C2675973	hp.json		http://purl.obolibrary.org/obo/HP_0100954							
HP:0100955	biolink:PhenotypicFeature	Giant cell granuloma of mandible		UMLS:C4021912	hp.json		http://purl.obolibrary.org/obo/HP_0100955							
HP:0100957	biolink:PhenotypicFeature	Abnormal renal medulla morphology	Any structural abnormality of the medulla of the kidney.	UMLS:C4021911	hp.json	Abnormality of the renal medulla	http://purl.obolibrary.org/obo/HP_0100957							
HP:0100958	biolink:PhenotypicFeature	Narrow foramen obturatorium	Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.	UMLS:C4021910	hp.json		http://purl.obolibrary.org/obo/HP_0100958							
HP:0100959	biolink:PhenotypicFeature	Dense metaphyseal bands	Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.	UMLS:C4020919	hp.json	Dense metaphyseal lines|Transverse metaphyseal bands	http://purl.obolibrary.org/obo/HP_0100959							
HP:0100960	biolink:PhenotypicFeature	Asymmetric ventricles		UMLS:C4021909	hp.json		http://purl.obolibrary.org/obo/HP_0100960							
HP:0100961	biolink:PhenotypicFeature	Enlarged hippocampus	Increase in size of the hippocampus.	UMLS:C4021908	hp.json		http://purl.obolibrary.org/obo/HP_0100961							
HP:0100962	biolink:PhenotypicFeature	Shyness		MSH:D012792|UMLS:C0037020	hp.json	Shyness	http://purl.obolibrary.org/obo/HP_0100962							
HP:0100963	biolink:PhenotypicFeature	Hyperesthesia	Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.	MSH:D006941|SNOMEDCT_US:14151009|UMLS:C0020453	hp.json	Hyperaesthesia	http://purl.obolibrary.org/obo/HP_0100963							
HP:0200000	biolink:PhenotypicFeature	Dysharmonic bone age	Different levels of maturation of different bones.	UMLS:C4020918	hp.json	Dysharmonic skeletal maturation	http://purl.obolibrary.org/obo/HP_0200000							
HP:0200001	biolink:PhenotypicFeature	Dysharmonic accelerated bone age	A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.	UMLS:C4021907	hp.json		http://purl.obolibrary.org/obo/HP_0200001							
HP:0200003	biolink:PhenotypicFeature	Splayed epiphyses	Flaring (widening) of the epiphysis.	UMLS:C4021906	hp.json	Splayed end part of bone	http://purl.obolibrary.org/obo/HP_0200003							
HP:0200005	biolink:PhenotypicFeature	Abnormal shape of the palpebral fissure	The presence of an abnormal shape of the palpebral fissure.	UMLS:C4021905	hp.json	Abnormal shape of the opening between the eyelids|Abnormal morphology of the palpebral fissure	http://purl.obolibrary.org/obo/HP_0200005							hposlim_core
HP:0200006	biolink:PhenotypicFeature	Slanting of the palpebral fissure		UMLS:C2748932	hp.json	Slanting of the opening between the eyelids	http://purl.obolibrary.org/obo/HP_0200006							
HP:0200007	biolink:PhenotypicFeature	Abnormal size of the palpebral fissures	An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.	UMLS:C4021904|UMLS:C4280286	hp.json	Abnormal size of the opening between the eyelids|Abnormal size of the eyes	http://purl.obolibrary.org/obo/HP_0200007							
HP:0200008	biolink:PhenotypicFeature	Intestinal polyposis	The presence of multiple polyps in the intestine.	MSH:D044483|UMLS:C0744333|UMLS:C1257915	hp.json	Growths in inner lining of intestine|Multiple intestinal polyps|Gastrointestinal polyps	http://purl.obolibrary.org/obo/HP_0200008							
HP:0200011	biolink:PhenotypicFeature	Abnormal length of corpus callosum		UMLS:C4021903	hp.json		http://purl.obolibrary.org/obo/HP_0200011							
HP:0200012	biolink:PhenotypicFeature	Short corpus callosum		UMLS:C4021902	hp.json		http://purl.obolibrary.org/obo/HP_0200012							
HP:0200013	biolink:PhenotypicFeature	Neoplasm of fatty tissue	A tumor (abnormal growth of tissue) of adipose tissue.	NCIT:C3262|UMLS:C4021901	hp.json	Tumor of fatty tissue|Tumour of fatty tissue	http://purl.obolibrary.org/obo/HP_0200013							
HP:0200015	biolink:PhenotypicFeature	Symmetric great toe depigmentation		UMLS:C4021900	hp.json		http://purl.obolibrary.org/obo/HP_0200015							
HP:0200016	biolink:PhenotypicFeature	Acrokeratosis	Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.	SNOMEDCT_US:46629009|UMLS:C0001202	hp.json	Acral keratosis	http://purl.obolibrary.org/obo/HP_0200016							
HP:0200017	biolink:PhenotypicFeature	Cerebral white matter agenesis	Congenital defect with failure of the development of the cerebral white matter.	UMLS:C1859969	hp.json	Agenesis of the cerebral white matter|White matter agenesis	http://purl.obolibrary.org/obo/HP_0200017							
HP:0200018	biolink:PhenotypicFeature	Protanomaly	A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.	MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015|UMLS:C3887980	hp.json	Red-weak|Colorblindness, partial, protan series	http://purl.obolibrary.org/obo/HP_0200018							
HP:0200020	biolink:PhenotypicFeature	Corneal erosion	An erosion or abrasion of the cornea's outermost layer of epithelial cells.	SNOMEDCT_US:50792001|UMLS:C0392163	hp.json	Damage to outer layer of the cornea of the eye	http://purl.obolibrary.org/obo/HP_0200020							hposlim_core
HP:0200021	biolink:PhenotypicFeature	Down-sloping shoulders	Low set, steeply sloping shoulders.	UMLS:C1856872	hp.json	Down-sloping shoulders|Rounded shoulders|Rounded, sloping shoulders|Sloping shoulders	http://purl.obolibrary.org/obo/HP_0200021							hposlim_core
HP:0200022	biolink:PhenotypicFeature	Choroid plexus papilloma	Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.	MSH:D020288|NCIT:C3698|SNOMEDCT_US:18021007|UMLS:C0205770	hp.json		http://purl.obolibrary.org/obo/HP_0200022							
HP:0200023	biolink:PhenotypicFeature	Priapism	A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.	MSH:D011317|SNOMEDCT_US:6273006|UMLS:C0033117	hp.json	hulseyism	http://purl.obolibrary.org/obo/HP_0200023							
HP:0200024	biolink:PhenotypicFeature	Premature chromatid separation	The presence of premature sister chromatid segregation.	UMLS:C4021899	hp.json		http://purl.obolibrary.org/obo/HP_0200024							
HP:0200025	biolink:PhenotypicFeature	Mandibular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.	SNOMEDCT_US:274667000|UMLS:C0236000	hp.json	Lower jaw pain	http://purl.obolibrary.org/obo/HP_0200025							
HP:0200026	biolink:PhenotypicFeature	Ocular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.	MSH:D058447|SNOMEDCT_US:41652007|UMLS:C0151827	hp.json	Eye pain	http://purl.obolibrary.org/obo/HP_0200026							
HP:0200028	biolink:PhenotypicFeature	Pretibial myxedema	A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.	SNOMEDCT_US:237825005|SNOMEDCT_US:78146007|UMLS:C0033103|UMLS:C0342554	hp.json	Graves dermopathy	http://purl.obolibrary.org/obo/HP_0200028							
HP:0200029	biolink:PhenotypicFeature	Vasculitis in the skin		SNOMEDCT_US:53312001|UMLS:C0262988	hp.json	Cutaneous vasculitis	http://purl.obolibrary.org/obo/HP_0200029							
HP:0200030	biolink:PhenotypicFeature	Punctate vasculitis skin lesions		UMLS:C3277693	hp.json		http://purl.obolibrary.org/obo/HP_0200030							
HP:0200032	biolink:PhenotypicFeature	Kayser-Fleischer ring	Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.	SNOMEDCT_US:77103006|UMLS:C0152457	hp.json	Fleischer's ring|Fleischer-Kayser ring|Fleischer-Struempell ring	http://purl.obolibrary.org/obo/HP_0200032							
HP:0200034	biolink:PhenotypicFeature	Papule	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.	MEDDRA:10033733|SNOMEDCT_US:25694009|SNOMEDCT_US:443871003|UMLS:C0332563	hp.json	Papules|Skin papules	http://purl.obolibrary.org/obo/HP_0200034							hposlim_core
HP:0200035	biolink:PhenotypicFeature	Skin plaque	A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.	SNOMEDCT_US:128177006|SNOMEDCT_US:276322001|UMLS:C0241148	hp.json		http://purl.obolibrary.org/obo/HP_0200035							
HP:0200036	biolink:PhenotypicFeature	Skin nodule	Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.	SNOMEDCT_US:95319004|UMLS:C0037287	hp.json	Growth of abnormal tissue on or under the skin	http://purl.obolibrary.org/obo/HP_0200036							
HP:0200037	biolink:PhenotypicFeature	Skin vesicle	A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.	UMLS:C3814530	hp.json		http://purl.obolibrary.org/obo/HP_0200037							
HP:0200039	biolink:PhenotypicFeature	Pustule	A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.	MEDDRA:10037578|SNOMEDCT_US:103605005|SNOMEDCT_US:271760008|SNOMEDCT_US:285305004|SNOMEDCT_US:47002008|UMLS:C0241157|UMLS:C0542346	hp.json	Pimple|Pustules|Skin pustules|Pustula|Pustular lesion|Skin pustule	http://purl.obolibrary.org/obo/HP_0200039							hposlim_core
HP:0200040	biolink:PhenotypicFeature	Epidermoid cyst	Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.	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	hp.json	Skin cyst|Epidermoid cysts|Epidermal cyst|Epidermal inclusion cyst|Infundibular cyst|Keratin cyst|Sebaceous cyst	http://purl.obolibrary.org/obo/HP_0200040							
HP:0200041	biolink:PhenotypicFeature	Skin erosion	A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.	MEDDRA:10040840|SNOMEDCT_US:93448009|UMLS:C3887524	hp.json		http://purl.obolibrary.org/obo/HP_0200041							
HP:0200042	biolink:PhenotypicFeature	Skin ulcer	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.	MEDDRA:10040943|MSH:D012883|SNOMEDCT_US:46742003|UMLS:C0037299	hp.json	Open skin sore	http://purl.obolibrary.org/obo/HP_0200042							hposlim_core
HP:0200043	biolink:PhenotypicFeature	Verrucae	Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.	MSH:D014860|SNOMEDCT_US:30285000|SNOMEDCT_US:57019003|UMLS:C3665596	hp.json	Warts	http://purl.obolibrary.org/obo/HP_0200043							
HP:0200044	biolink:PhenotypicFeature	Porokeratosis	A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.	MSH:D017499|SNOMEDCT_US:80432009|UMLS:C0949506	hp.json		http://purl.obolibrary.org/obo/HP_0200044							
HP:0200046	biolink:PhenotypicFeature	Cat cry	The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.	SNOMEDCT_US:42712003|UMLS:C0234861	hp.json	Cat cry|cat-like cry|cri de chat-associated cry	http://purl.obolibrary.org/obo/HP_0200046							
HP:0200047	biolink:PhenotypicFeature	Chondritis of pinna	Inflammation of the cartilage of the external ear.	UMLS:C0741305	hp.json	Inflammation of cartilage of pinna	http://purl.obolibrary.org/obo/HP_0200047							
HP:0200048	biolink:PhenotypicFeature	Cyanotic episode		SNOMEDCT_US:301795004|UMLS:C0578475	hp.json		http://purl.obolibrary.org/obo/HP_0200048							
HP:0200049	biolink:PhenotypicFeature	Upper limb hypertonia		UMLS:C4021898	hp.json		http://purl.obolibrary.org/obo/HP_0200049							
HP:0200050	biolink:PhenotypicFeature	Bracket metacarpal epiphyses		UMLS:C4021897	hp.json	Bracket shaped end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0200050							
HP:0200053	biolink:PhenotypicFeature	Hemihypotrophy of lower limb	Shortening of a leg affecting only one side.	UMLS:C1844734	hp.json	Asymmetric leg shortening|Asymmetric lower limb shortness	http://purl.obolibrary.org/obo/HP_0200053							
HP:0200054	biolink:PhenotypicFeature	Foot monodactyly		UMLS:C4021896	hp.json		http://purl.obolibrary.org/obo/HP_0200054							
HP:0200055	biolink:PhenotypicFeature	Small hand	Disproportionately small hand.	SNOMEDCT_US:299032009|UMLS:C0575802	hp.json	Disproportionately small hands|Small hand|Small hands	http://purl.obolibrary.org/obo/HP_0200055							
HP:0200056	biolink:PhenotypicFeature	Macular scar	Scar tissue in the macula.	SNOMEDCT_US:18410006|UMLS:C0423428	hp.json	Macular scarring	http://purl.obolibrary.org/obo/HP_0200056							
HP:0200057	biolink:PhenotypicFeature	Marcus Gunn pupil	An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.	SNOMEDCT_US:232122003|SNOMEDCT_US:247015002|UMLS:C0549122	hp.json	Relative afferent pupil defect|Relative afferent pupillary defect	http://purl.obolibrary.org/obo/HP_0200057							
HP:0200058	biolink:PhenotypicFeature	Angiosarcoma		MSH:D006394|SNOMEDCT_US:33176006|SNOMEDCT_US:39000009|SNOMEDCT_US:403977003|UMLS:C0018923	hp.json		http://purl.obolibrary.org/obo/HP_0200058							
HP:0200059	biolink:PhenotypicFeature	Metastatic angiosarcoma		UMLS:C0854892	hp.json		http://purl.obolibrary.org/obo/HP_0200059							
HP:0200063	biolink:PhenotypicFeature	Colorectal polyposis	Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.	SNOMEDCT_US:399505005|UMLS:C0949059	hp.json	Colorectal polyps	http://purl.obolibrary.org/obo/HP_0200063							
HP:0200064	biolink:PhenotypicFeature	Asymmetry of iris pigmentation	Asymmetry between the two irides or asymmetry between different parts of one iris.	MSH:C538115|SNOMEDCT_US:247033008|UMLS:C0423318	hp.json		http://purl.obolibrary.org/obo/HP_0200064							
HP:0200065	biolink:PhenotypicFeature	Chorioretinal degeneration		SNOMEDCT_US:247177004|UMLS:C0521683	hp.json		http://purl.obolibrary.org/obo/HP_0200065							
HP:0200066	biolink:PhenotypicFeature	Ribbonlike corneal degeneration		UMLS:C4021894	hp.json		http://purl.obolibrary.org/obo/HP_0200066							
HP:0200067	biolink:PhenotypicFeature	Recurrent spontaneous abortion	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.	UMLS:C3279439	hp.json	Spontaneous abortion, recurrent	http://purl.obolibrary.org/obo/HP_0200067							
HP:0200068	biolink:PhenotypicFeature	Nonprogressive visual loss		UMLS:C3553696|UMLS:C4021893	hp.json	Decreased visual acuity, nonprogressive	http://purl.obolibrary.org/obo/HP_0200068							
HP:0200070	biolink:PhenotypicFeature	Peripheral retinal atrophy		UMLS:C3553016	hp.json	Wasting of the outer part of the retina	http://purl.obolibrary.org/obo/HP_0200070							
HP:0200071	biolink:PhenotypicFeature	Peripheral vitreoretinal degeneration	A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.	UMLS:C3280349	hp.json		http://purl.obolibrary.org/obo/HP_0200071							
HP:0200072	biolink:PhenotypicFeature	Episodic quadriplegia	Intermittent episodes of paralysis of all four limbs.	UMLS:C1863062	hp.json	Quadriplegia, episodic	http://purl.obolibrary.org/obo/HP_0200072							
HP:0200073	biolink:PhenotypicFeature	Respiratory insufficiency due to defective ciliary clearance		UMLS:C3552099	hp.json		http://purl.obolibrary.org/obo/HP_0200073							
HP:0200083	biolink:PhenotypicFeature	Severe limb shortening		UMLS:C1835446	hp.json	Severe limb shortening	http://purl.obolibrary.org/obo/HP_0200083							
HP:0200084	biolink:PhenotypicFeature	Giant cell hepatitis	Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.	SNOMEDCT_US:69800000|UMLS:C0027613|UMLS:C2673820|UMLS:C2675624|UMLS:C4020697	hp.json	Giant cell hepatitis on biopsy|Giant cell hepatitis on liver biopsy|Giant cell hepatitis shown on biopsy	http://purl.obolibrary.org/obo/HP_0200084							
HP:0200085	biolink:PhenotypicFeature	Limb tremor		MSH:D014202|UMLS:C0235081	hp.json	Involuntary shaking of limb|Limb tremor|Tremor of limbs	http://purl.obolibrary.org/obo/HP_0200085							
HP:0200094	biolink:PhenotypicFeature	Frontal open bite		UMLS:C1857012	hp.json		http://purl.obolibrary.org/obo/HP_0200094							
HP:0200095	biolink:PhenotypicFeature	obsolete Anterior open bite			hp.json		http://purl.obolibrary.org/obo/HP_0200095							
HP:0200096	biolink:PhenotypicFeature	Triangular-shaped open mouth	A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.	UMLS:C1859292	hp.json	Triangular-shaped open mouth	http://purl.obolibrary.org/obo/HP_0200096							
HP:0200097	biolink:PhenotypicFeature	Oral mucosal blisters	Blisters arising in the mouth.	UMLS:C0853945	hp.json	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							
HP:0200098	biolink:PhenotypicFeature	Absent skin pigmentation	Lack of skin pigmentation (coloring).	UMLS:C2673954	hp.json	Absent skin pigmentation|Lack of skin coloration	http://purl.obolibrary.org/obo/HP_0200098							
HP:0200099	biolink:PhenotypicFeature	obsolete Peripheral retinal pigmentation abnormalities			hp.json		http://purl.obolibrary.org/obo/HP_0200099							
HP:0200101	biolink:PhenotypicFeature	Decreased/absent ankle reflexes		UMLS:C1850816	hp.json	Decreased/absent ankle reflexes|Decreased or absent ankle reflexes	http://purl.obolibrary.org/obo/HP_0200101							
HP:0200102	biolink:PhenotypicFeature	Sparse or absent eyelashes		UMLS:C1835157|UMLS:C1862855|UMLS:C3551431	hp.json	Sparse or absent eyelashes|Partial to total absence of eyelashes|Sparse to absent eyelashes	http://purl.obolibrary.org/obo/HP_0200102							
HP:0200104	biolink:PhenotypicFeature	Absent fifth fingernail	Absence of nail of little finger.	UMLS:C4020917	hp.json	Absent fifth fingernail|Absent nail of fifth finger	http://purl.obolibrary.org/obo/HP_0200104							
HP:0200105	biolink:PhenotypicFeature	Absent fifth toenail		UMLS:C4021892	hp.json	Absent fifth toenail|Missing fifth toenail	http://purl.obolibrary.org/obo/HP_0200105							
HP:0200106	biolink:PhenotypicFeature	Absent/shortened dynein arms		UMLS:C4021891	hp.json		http://purl.obolibrary.org/obo/HP_0200106							
HP:0200107	biolink:PhenotypicFeature	Shortened inner dynein arms		UMLS:C4021890	hp.json		http://purl.obolibrary.org/obo/HP_0200107							
HP:0200108	biolink:PhenotypicFeature	Shortened outer dynein arms		UMLS:C4021889	hp.json		http://purl.obolibrary.org/obo/HP_0200108							
HP:0200109	biolink:PhenotypicFeature	Absent/shortened outer dynein arms		UMLS:C2750161	hp.json	Respiratory cilia have shortened or absent outer dynein arms	http://purl.obolibrary.org/obo/HP_0200109							
HP:0200111	biolink:PhenotypicFeature	Absent stapes head		UMLS:C4021888	hp.json		http://purl.obolibrary.org/obo/HP_0200111							
HP:0200113	biolink:PhenotypicFeature	Aphalangy of hands and feet		UMLS:C4021887	hp.json	Aphalangy, hands and feet	http://purl.obolibrary.org/obo/HP_0200113							
HP:0200114	biolink:PhenotypicFeature	Metabolic alkalosis	Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.	SNOMEDCT_US:1388004|UMLS:C0220983	hp.json		http://purl.obolibrary.org/obo/HP_0200114							
HP:0200116	biolink:PhenotypicFeature	Distal ileal atresia		UMLS:C3279409	hp.json		http://purl.obolibrary.org/obo/HP_0200116							
HP:0200117	biolink:PhenotypicFeature	Recurrent upper and lower respiratory tract infections	Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.	UMLS:C1842777	hp.json		http://purl.obolibrary.org/obo/HP_0200117							
HP:0200118	biolink:PhenotypicFeature	Malabsorption of Vitamin B12		UMLS:C0750292|UMLS:C1850013	hp.json	Malabsorption of cyanocobalamin|Vitamin B12 deficiency caused by intestinal malabsorption	http://purl.obolibrary.org/obo/HP_0200118							
HP:0200119	biolink:PhenotypicFeature	Acute hepatitis	Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.	SNOMEDCT_US:37871000|UMLS:C0267797	hp.json	Acute liver inflammation	http://purl.obolibrary.org/obo/HP_0200119							
HP:0200120	biolink:PhenotypicFeature	Chronic active hepatitis	Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.	MSH:D006521|SNOMEDCT_US:197284004|UMLS:C0520463	hp.json	Hepatitis, chronic active	http://purl.obolibrary.org/obo/HP_0200120							
HP:0200122	biolink:PhenotypicFeature	Atypical or prolonged hepatitis		UMLS:C1848456	hp.json	Atypical or prolonged liver inflammation	http://purl.obolibrary.org/obo/HP_0200122							
HP:0200123	biolink:PhenotypicFeature	Chronic hepatitis	Hepatitis that lasts for more than six months.	MSH:D006521|SNOMEDCT_US:76783007|UMLS:C0019189	hp.json	Chronic liver inflammation	http://purl.obolibrary.org/obo/HP_0200123							
HP:0200124	biolink:PhenotypicFeature	Chronic hepatitis due to cryptosporidium infection	Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.	UMLS:C3808820	hp.json	Hepatitis, chronic, due to cryptosporidium infection	http://purl.obolibrary.org/obo/HP_0200124							
HP:0200125	biolink:PhenotypicFeature	Mitochondrial respiratory chain defects		UMLS:C2751582	hp.json		http://purl.obolibrary.org/obo/HP_0200125							
HP:0200126	biolink:PhenotypicFeature	obsolete Amyloid cardiomyopathy			hp.json		http://purl.obolibrary.org/obo/HP_0200126							
HP:0200127	biolink:PhenotypicFeature	Atrial cardiomyopathy	Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.	UMLS:C4021885	hp.json		http://purl.obolibrary.org/obo/HP_0200127							
HP:0200128	biolink:PhenotypicFeature	Biventricular hypertrophy	Thickening of the heart walls in both ventricles.	UMLS:C0281788	hp.json		http://purl.obolibrary.org/obo/HP_0200128							
HP:0200129	biolink:PhenotypicFeature	obsolete Calcific mitral stenosis			hp.json		http://purl.obolibrary.org/obo/HP_0200129							
HP:0200133	biolink:PhenotypicFeature	Lumbosacral meningocele		UMLS:C2675557	hp.json		http://purl.obolibrary.org/obo/HP_0200133							
HP:0200134	biolink:PhenotypicFeature	Epileptic encephalopathy	A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.	UMLS:C0543888	hp.json	Convulsive encephalopathy	http://purl.obolibrary.org/obo/HP_0200134							
HP:0200135	biolink:PhenotypicFeature	obsolete Macrocephaly due to hydrocephalus			hp.json		http://purl.obolibrary.org/obo/HP_0200135							
HP:0200136	biolink:PhenotypicFeature	Oral-pharyngeal dysphagia		MSH:D003680|SNOMEDCT_US:71457002|UMLS:C0267071	hp.json	Oral pharyngeal dysphagia|Oropharyngeal dysphagia	http://purl.obolibrary.org/obo/HP_0200136							
HP:0200138	biolink:PhenotypicFeature	Bilateral choanal atresia/stenosis		UMLS:C4021884	hp.json		http://purl.obolibrary.org/obo/HP_0200138							
HP:0200141	biolink:PhenotypicFeature	Small, conical teeth		UMLS:C1851883|UMLS:C4280284|UMLS:C4280285	hp.json	Small, cone shaped teeth|Small, peg shaped teeth|Small, pointed teeth|Conical microdontia	http://purl.obolibrary.org/obo/HP_0200141							
HP:0200143	biolink:PhenotypicFeature	Megaloblastic erythroid hyperplasia		UMLS:C1334688|UMLS:C1850020	hp.json	Bone marrow biopsy shows megaloblastic erythroid hyperplasia	http://purl.obolibrary.org/obo/HP_0200143							
HP:0200144	biolink:PhenotypicFeature	obsolete Anaphylactoid purpura			hp.json		http://purl.obolibrary.org/obo/HP_0200144							
HP:0200146	biolink:PhenotypicFeature	Mucoid extracellular matrix accumulation	An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).	MSH:C536230|SNOMEDCT_US:234021009|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|UMLS:C0392775	hp.json	MEMA|Cystic medial necrosis of the aorta	http://purl.obolibrary.org/obo/HP_0200146							
HP:0200147	biolink:PhenotypicFeature	Neuronal loss in basal ganglia	A reduction in the number of nerve cells in the basal ganglia.	UMLS:C2750913	hp.json		http://purl.obolibrary.org/obo/HP_0200147							
HP:0200148	biolink:PhenotypicFeature	Abnormal liver function tests during pregnancy		UMLS:C2750654|UMLS:C4021883	hp.json	Abnormal liver function tests during pregnancy|Abnormal liver function tests during pregnancy, resolves postpartum	http://purl.obolibrary.org/obo/HP_0200148							
HP:0200149	biolink:PhenotypicFeature	CSF lymphocytic pleiocytosis	An increased lymphocyte count in the cerebrospinal fluid.	SNOMEDCT_US:167719009|UMLS:C0427877	hp.json	CSF lymphocytosis	http://purl.obolibrary.org/obo/HP_0200149							
HP:0200150	biolink:PhenotypicFeature	Increased serum bile acid concentration during pregnancy		UMLS:C4020695|UMLS:C4021882	hp.json	Increased serum bile acid concentration during pregnancy, resolves	http://purl.obolibrary.org/obo/HP_0200150							
HP:0200151	biolink:PhenotypicFeature	Cutaneous mastocytosis	Multifocal dense infiltrates of mast cells in cutaneous tissue.	MSH:D034701|SNOMEDCT_US:397012002|SNOMEDCT_US:703827008|UMLS:C1136033	hp.json		http://purl.obolibrary.org/obo/HP_0200151							
HP:0200153	biolink:PhenotypicFeature	Agenesis of lateral incisor		UMLS:C4021881|UMLS:C4227831	hp.json	Missing lateral incisor|Failure of development of lateral incisor|Absence of lateral incisor	http://purl.obolibrary.org/obo/HP_0200153							
HP:0200154	biolink:PhenotypicFeature	Agenesis of mandibular lateral incisor		UMLS:C4021880|UMLS:C4280283	hp.json	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	biolink:PhenotypicFeature	Agenesis of permanent mandibular lateral incisor		UMLS:C4021879|UMLS:C4280282	hp.json	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	biolink:PhenotypicFeature	Agenesis of primary mandibular lateral incisor		UMLS:C4021878|UMLS:C4280280|UMLS:C4280281	hp.json	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	biolink:PhenotypicFeature	Agenesis of maxillary incisor		UMLS:C4021877|UMLS:C4280278|UMLS:C4280279	hp.json	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	biolink:PhenotypicFeature	Agenesis of mandibular incisor		UMLS:C3150012|UMLS:C4021876|UMLS:C4280277	hp.json	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	biolink:PhenotypicFeature	Tall chin	Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.	SNOMEDCT_US:471397004|UMLS:C3532221|UMLS:C4021875	hp.json	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							
HP:0400001	biolink:PhenotypicFeature	Chin with vertical crease	Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.	UMLS:C4020916	hp.json	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							
HP:0400002	biolink:PhenotypicFeature	Extra concha fold	Folds or ridges within the concha that are distinct from the crus helix.	UMLS:C4020915	hp.json	Concha, Extra Fold	http://purl.obolibrary.org/obo/HP_0400002							
HP:0400003	biolink:PhenotypicFeature	Focal absence of the external ear	Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).	UMLS:C4021874	hp.json		http://purl.obolibrary.org/obo/HP_0400003							
HP:0400004	biolink:PhenotypicFeature	Long ear	Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.	UMLS:C1848657	hp.json	Long ear|Long ears	http://purl.obolibrary.org/obo/HP_0400004							
HP:0400005	biolink:PhenotypicFeature	Short ear	Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.	UMLS:C3551041	hp.json	Short ear|Short ears	http://purl.obolibrary.org/obo/HP_0400005							
HP:0400007	biolink:PhenotypicFeature	Polymenorrhea	Frequent menses; menstrual cycles lasting less than 21 days.	MSH:D008599|SNOMEDCT_US:52754008|UMLS:C0032519	hp.json		http://purl.obolibrary.org/obo/HP_0400007							
HP:0400008	biolink:PhenotypicFeature	Menometrorrhagia	Prolonged/excessive menses and bleeding at irregular intervals.	SNOMEDCT_US:314631008|SNOMEDCT_US:351814001|UMLS:C0232943	hp.json		http://purl.obolibrary.org/obo/HP_0400008							
HP:0410000	biolink:PhenotypicFeature	Abnormality of vomer	An abnormality of the vomer.	UMLS:C4020914	hp.json	Abnormality of vomer bone|Defect of vomer	http://purl.obolibrary.org/obo/HP_0410000							
HP:0410003	biolink:PhenotypicFeature	Cleft maxillary alveolus	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.	SNOMEDCT_US:109546001|UMLS:C0432084|UMLS:C4280276	hp.json	Cleft primary palate|Alveolar cleft|Cleft anterior maxilla|Cleft alveolar process of maxilla	http://purl.obolibrary.org/obo/HP_0410003							
HP:0410004	biolink:PhenotypicFeature	obsolete Cleft secondary palate			hp.json		http://purl.obolibrary.org/obo/HP_0410004							
HP:0410005	biolink:PhenotypicFeature	Cleft hard palate		SNOMEDCT_US:448915004|UMLS:C0432090	hp.json	Cleft bony palate|Cleft of hard palate	http://purl.obolibrary.org/obo/HP_0410005							
HP:0410006	biolink:PhenotypicFeature	Abnormality of ophthalmic artery	Abnormality of the first branch of the internal carotid artery.	UMLS:C4073185	hp.json	Ophthalmic artery anomaly	http://purl.obolibrary.org/obo/HP_0410006							
HP:0410007	biolink:PhenotypicFeature	obsolete Abnormality of cartilage morphology			hp.json		http://purl.obolibrary.org/obo/HP_0410007							
HP:0410008	biolink:PhenotypicFeature	Abnormality of the peripheral nervous system	Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.	UMLS:C4073187	hp.json	Abnormality of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0410008							
HP:0410009	biolink:PhenotypicFeature	Abnormality of the somatic nervous system	Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.	UMLS:C4073188	hp.json		http://purl.obolibrary.org/obo/HP_0410009							
HP:0410010	biolink:PhenotypicFeature	Abnormality of somatic nerve plexus	Any abnormality of the somatic nerve plexus.	UMLS:C4073189	hp.json		http://purl.obolibrary.org/obo/HP_0410010							
HP:0410011	biolink:PhenotypicFeature	Abnormality of masticatory muscle	Any abnormality of the masticatory muscle.	UMLS:C4073190	hp.json	Abnormality of muscles of mastication	http://purl.obolibrary.org/obo/HP_0410011							
HP:0410012	biolink:PhenotypicFeature	Abnormal mouth floor morphology	Any abnormality of the mouth floor.	UMLS:C4073191	hp.json	Abnormality of the floor of mouth|Abnormality of the mouth floor	http://purl.obolibrary.org/obo/HP_0410012							
HP:0410013	biolink:PhenotypicFeature	Abnormality of the submandibular region	Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.	UMLS:C4073192	hp.json		http://purl.obolibrary.org/obo/HP_0410013							
HP:0410014	biolink:PhenotypicFeature	Abnormality of ganglion	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.	UMLS:C4073193	hp.json		http://purl.obolibrary.org/obo/HP_0410014							
HP:0410015	biolink:PhenotypicFeature	Abnormality of ganglion of peripheral nervous system	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.	UMLS:C4073194	hp.json		http://purl.obolibrary.org/obo/HP_0410015							
HP:0410016	biolink:PhenotypicFeature	Abnormality of cranial ganglion	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.	UMLS:C4073195	hp.json		http://purl.obolibrary.org/obo/HP_0410016							
HP:0410017	biolink:PhenotypicFeature	Otitis externa	Inflammation or infection of the external auditory canal (EAC), the auricle, or both.		hp.json	Swimmer's ear	http://purl.obolibrary.org/obo/HP_0410017							
HP:0410018	biolink:PhenotypicFeature	Recurrent ear infections	Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.		hp.json	Frequent ear infections|Recurrent ear infections	http://purl.obolibrary.org/obo/HP_0410018							
HP:0410019	biolink:PhenotypicFeature	Epigastric pain	Pain that is localized to the region of the upper abdomen immediately below the ribs.		hp.json	Epigastrium pain	http://purl.obolibrary.org/obo/HP_0410019							
HP:0410020	biolink:PhenotypicFeature	Fish odor	Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.		hp.json	Fish odour|Fishy odor|Fishy body odour|Fishy odour|Fishy body odor	http://purl.obolibrary.org/obo/HP_0410020							
HP:0410021	biolink:PhenotypicFeature	Musty odor	Pungent body odor.		hp.json	Musty odor|Musty odour	http://purl.obolibrary.org/obo/HP_0410021							
HP:0410022	biolink:PhenotypicFeature	Vaginal fish odor	A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).		hp.json	Vaginal fish odor|Vaginal fish odour	http://purl.obolibrary.org/obo/HP_0410022							
HP:0410023	biolink:PhenotypicFeature	Abnormal distribution of cell junction proteins in buccal mucosal cells	An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.		hp.json		http://purl.obolibrary.org/obo/HP_0410023							
HP:0410026	biolink:PhenotypicFeature	Abnormal periodontium morphology	Any abnormality of the periodontium.		hp.json	Abnormality of the periodontium	http://purl.obolibrary.org/obo/HP_0410026							
HP:0410027	biolink:PhenotypicFeature	Alveolar bone loss around teeth	A decrease in the amount of alveolar bone around the root of a tooth.		hp.json	Bone loss around teeth	http://purl.obolibrary.org/obo/HP_0410027							
HP:0410028	biolink:PhenotypicFeature	Recurrent oral herpes	Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.		hp.json	Recurrent herpes labialis	http://purl.obolibrary.org/obo/HP_0410028							
HP:0410030	biolink:PhenotypicFeature	Cleft lip	A gap in the lip or lips.		hp.json	Cleft lip|Cleft of the lip	http://purl.obolibrary.org/obo/HP_0410030							
HP:0410031	biolink:PhenotypicFeature	Submucous cleft of soft and hard palate	Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.		hp.json		http://purl.obolibrary.org/obo/HP_0410031							
HP:0410032	biolink:PhenotypicFeature	obsolete Cleft of uvula			hp.json		http://purl.obolibrary.org/obo/HP_0410032							
HP:0410033	biolink:PhenotypicFeature	Unilateral alveolar cleft of maxilla	One sided alveolar cleft of the maxilla.		hp.json		http://purl.obolibrary.org/obo/HP_0410033							
HP:0410034	biolink:PhenotypicFeature	Bilateral alveolar cleft of maxilla	Nonmidline alveolar cleft of the maxilla.		hp.json		http://purl.obolibrary.org/obo/HP_0410034							
HP:0410035	biolink:PhenotypicFeature	Abnormal T cell activation	Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.		hp.json	Abnormal T lymphocyte activation|Abnormal T-cell activation|Abnormal T-lymphocyte activation	http://purl.obolibrary.org/obo/HP_0410035							
HP:0410042	biolink:PhenotypicFeature	Abnormal liver morphology	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.	Fyler:4447	hp.json		http://purl.obolibrary.org/obo/HP_0410042							
HP:0410043	biolink:PhenotypicFeature	Abnormal neural tube morphology	Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).	Fyler:4339	hp.json		http://purl.obolibrary.org/obo/HP_0410043							
HP:0410049	biolink:PhenotypicFeature	Abnormality of radial ray			hp.json	Deformity of radial ray|Radial ray abnormality|Radial ray anomaly|Radial ray deformity	http://purl.obolibrary.org/obo/HP_0410049							
HP:0410050	biolink:PhenotypicFeature	Decreased level of 1,5 anhydroglucitol in serum	A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.		hp.json	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							
HP:0410051	biolink:PhenotypicFeature	Increased level of 3-hydroxy-3-methylglutaric acid in urine	An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410051							
HP:0410052	biolink:PhenotypicFeature	Increased level of allantoin in serum	An increase in the level of allantoin in the serum.		hp.json		http://purl.obolibrary.org/obo/HP_0410052							
HP:0410053	biolink:PhenotypicFeature	Increased level of GABA in serum	An increase in the level of GABA in the serum.		hp.json	Increased level of gamma-aminobutyric acid in serum	http://purl.obolibrary.org/obo/HP_0410053							
HP:0410054	biolink:PhenotypicFeature	Decreased level of GABA in serum	A decrease in the level of GABA in the serum.		hp.json	Decreased level of gamma-aminobutyric acid in serum	http://purl.obolibrary.org/obo/HP_0410054							
HP:0410055	biolink:PhenotypicFeature	Decreased level of erythritol in urine	A decrease in the level of erythritol in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410055							
HP:0410056	biolink:PhenotypicFeature	Decreased level of erythritol in CSF	A decrease in the level of erythritol in the cerebrospinal fluid.		hp.json	Decreased level of erythritol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410056							
HP:0410057	biolink:PhenotypicFeature	Increased level of D-threitol in plasma	An increase in the level of D-threitol in the plasma.		hp.json		http://purl.obolibrary.org/obo/HP_0410057							
HP:0410058	biolink:PhenotypicFeature	Increased level of D-threitol in CSF	An increase in the level of D-threitol in the cerebrospinal fluid.		hp.json	Increased level of D-threitol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410058							
HP:0410059	biolink:PhenotypicFeature	Increased level of D-threitol in urine	An increase in the level of D-threitol in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410059							
HP:0410060	biolink:PhenotypicFeature	Decreased level of D-mannose in urine	A decrease in the level of D-mannose in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410060							
HP:0410061	biolink:PhenotypicFeature	Increased level of galactitol in plasma	An increase in the level of galactitol in the plasma.		hp.json		http://purl.obolibrary.org/obo/HP_0410061							
HP:0410062	biolink:PhenotypicFeature	Increased level of galactitol in urine	An increase in the level of galactitol in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410062							
HP:0410063	biolink:PhenotypicFeature	Increased level of galactonate in red blood cells	An increase in the level of galactonate in the red blood cells.		hp.json	Increased level of galactonate in RBCs|Increased level of galactonate in erythrocytes	http://purl.obolibrary.org/obo/HP_0410063							
HP:0410064	biolink:PhenotypicFeature	Increased level of galactitol in red blood cells	An increase in the level of galactitol in the red blood cells.		hp.json	Increased level of galactitol in erythrocytes	http://purl.obolibrary.org/obo/HP_0410064							
HP:0410065	biolink:PhenotypicFeature	Increased level of hippuric acid in blood	An increase in the level of hippuric acid in the blood.		hp.json	Increased level of N-benzoylglycine in blood	http://purl.obolibrary.org/obo/HP_0410065							
HP:0410066	biolink:PhenotypicFeature	Increased level of hippuric acid in urine	An increase in the level of hippuric acid in the urine.		hp.json	Increased level of N-benzoylglycine in urine	http://purl.obolibrary.org/obo/HP_0410066							
HP:0410067	biolink:PhenotypicFeature	Increased level of L-fucose in urine	An increase in the level of L-fucose in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410067							
HP:0410068	biolink:PhenotypicFeature	Increased level of L-glutamic acid in blood	An increase in the level of L-glutamic acid in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0410068							
HP:0410069	biolink:PhenotypicFeature	Increased level of propylene glycol in blood	An increase in the level of propylene glycol in the blood.		hp.json	Increased level of propane-1,2-diol in blood	http://purl.obolibrary.org/obo/HP_0410069							
HP:0410070	biolink:PhenotypicFeature	Increased level of ribitol in urine	An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.		hp.json		http://purl.obolibrary.org/obo/HP_0410070							
HP:0410071	biolink:PhenotypicFeature	Increased level of ribitol in CSF	An increase in the level of ribitol in the cerebral spinal fluid.		hp.json	Increased level of ribitol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410071							
HP:0410072	biolink:PhenotypicFeature	Increased level of ribose in urine	An increase in the level of ribose in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410072							
HP:0410073	biolink:PhenotypicFeature	Increased level of ribose in CSF	An increase in the level of ribose in the cerebrospinal fluid.		hp.json	Increased level of ribose in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410073							
HP:0410074	biolink:PhenotypicFeature	Increased level of xylitol in urine	An increase in the level of xylitol in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410074							
HP:0410075	biolink:PhenotypicFeature	Increased level of xylitol in CSF	An increase in the level of xylitol in the cerebrospinal fluid.		hp.json	Increased level of xylitol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410075							
HP:0410132	biolink:PhenotypicFeature	Increased level of L-pyroglutamic acid in urine	An increase in the level of L-pyroglutamic acid in the urine.		hp.json	Elevated urine 5-oxoproline|Increased level of 5-oxo-L-proline in urine	http://purl.obolibrary.org/obo/HP_0410132							
HP:0410133	biolink:PhenotypicFeature	Chronic idiopathic urticaria	Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.		hp.json	CIU|CSU|Chronic spontaneous urticaria	http://purl.obolibrary.org/obo/HP_0410133							
HP:0410134	biolink:PhenotypicFeature	Physical urticaria	Urticaria caused by physical agents, such as heat, cold, light, friction.		hp.json		http://purl.obolibrary.org/obo/HP_0410134							
HP:0410135	biolink:PhenotypicFeature	Cold urticaria	Urticaria may be caused by cold temperatures.		hp.json		http://purl.obolibrary.org/obo/HP_0410135							
HP:0410136	biolink:PhenotypicFeature	Aquagenic urticaria	A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.		hp.json		http://purl.obolibrary.org/obo/HP_0410136							
HP:0410137	biolink:PhenotypicFeature	Solar urticaria	Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.		hp.json		http://purl.obolibrary.org/obo/HP_0410137							
HP:0410138	biolink:PhenotypicFeature	Vibratory urticaria	Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.		hp.json		http://purl.obolibrary.org/obo/HP_0410138							
HP:0410139	biolink:PhenotypicFeature	Exercise induced anaphylaxis	Anaphylaxis after physical activity.		hp.json		http://purl.obolibrary.org/obo/HP_0410139							
HP:0410144	biolink:PhenotypicFeature	Abnormal biotinidase level	An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.		hp.json		http://purl.obolibrary.org/obo/HP_0410144							
HP:0410145	biolink:PhenotypicFeature	Decreased biotinidase level	A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.		hp.json		http://purl.obolibrary.org/obo/HP_0410145							
HP:0410146	biolink:PhenotypicFeature	Increased biotinidase level	An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.		hp.json		http://purl.obolibrary.org/obo/HP_0410146							
HP:0410147	biolink:PhenotypicFeature	Eosinophilic infiltration in the stomach mucosa	Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.		hp.json	Eosinophilic gastritis	http://purl.obolibrary.org/obo/HP_0410147							
HP:0410148	biolink:PhenotypicFeature	Idiopathic anaphylaxis	A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.		hp.json		http://purl.obolibrary.org/obo/HP_0410148							
HP:0410149	biolink:PhenotypicFeature	Drug-induced anaphylaxis	A form of anaphylaxis that is triggered by intake of drugs or medications.		hp.json	Drug induced anaphylaxis	http://purl.obolibrary.org/obo/HP_0410149							
HP:0410151	biolink:PhenotypicFeature	Eosinophilic infiltration of the esophagus	Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.		hp.json	Eosinophilic esophagitis|Eosinophilic infiltration of the oesophagus	http://purl.obolibrary.org/obo/HP_0410151							
HP:0410152	biolink:PhenotypicFeature	Eosinophilic microabscess formation in the esophagus	The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.		hp.json	Eosinophilic micro-abscess formation in the oesophagus|Eosinophilic micro-abscess formation in the esophagus|Eosinophilic microabscess formation in the oesophagus	http://purl.obolibrary.org/obo/HP_0410152							
HP:0410153	biolink:PhenotypicFeature	Increased level of methylsuccinic acid in urine	An increase in the level of methylsuccinic acid in the urine.		hp.json	Increased level of pyrotartaric acid in urine	http://purl.obolibrary.org/obo/HP_0410153							
HP:0410154	biolink:PhenotypicFeature	Increased level of myristic acid in serum	An increase in the level of myristic acid in the serum.		hp.json	Increased level of tetradecanoic acid in serum	http://purl.obolibrary.org/obo/HP_0410154							
HP:0410156	biolink:PhenotypicFeature	Increased level of N-acetylneuraminic acid in urine	An increase in the level of N-acetylneuraminic acid in the urine.		hp.json	Increased level of NANA in urine|Increased level of Neu5Ac in urine	http://purl.obolibrary.org/obo/HP_0410156							
HP:0410157	biolink:PhenotypicFeature	Increased level of N-acetylneuraminic acid in fibroblasts	An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.		hp.json	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							
HP:0410158	biolink:PhenotypicFeature	Increased urine O-phosphoethanolamine level	An increase in the level of O-phosphoethanolamine in the urine.		hp.json	Increased level of O-phosphoethanolamine in urine	http://purl.obolibrary.org/obo/HP_0410158							
HP:0410166	biolink:PhenotypicFeature	Defective interstrand cross-link repair	A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.		hp.json		http://purl.obolibrary.org/obo/HP_0410166							
HP:0410167	biolink:PhenotypicFeature	Abnormal morphology of the chest musculature	Any abnormality of the chest muscles.		hp.json	Muscle issues in the chest|Abnormality of the chest musculature	http://purl.obolibrary.org/obo/HP_0410167							
HP:0410168	biolink:PhenotypicFeature	Abnormality of the back musculature	Any abnormality of the back muscles.		hp.json	Muscle issues in the back	http://purl.obolibrary.org/obo/HP_0410168							
HP:0410169	biolink:PhenotypicFeature	Abnormal morphology of the shoulder musculature	Any abnormality of the shoulder muscles.		hp.json	Muscle issues in the shoulder|Abnormality of the shoulder musculature	http://purl.obolibrary.org/obo/HP_0410169							
HP:0410170	biolink:PhenotypicFeature	Hippocampal atrophy	Partial or complete wasting (loss) of hippocampus tissue that was once present.		hp.json	Atrophy of the hippocampus|Degeneration of the hippocampus	http://purl.obolibrary.org/obo/HP_0410170							
HP:0410171	biolink:PhenotypicFeature	Increased cotinine level	Increased concentration of cotinine in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410171							
HP:0410172	biolink:PhenotypicFeature	Blood xenobiotic	The presence of a xenobiotic in blood.		hp.json		http://purl.obolibrary.org/obo/HP_0410172							
HP:0410173	biolink:PhenotypicFeature	Increased circulating troponin I concentration	An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.		hp.json	Increased troponin I level in blood	http://purl.obolibrary.org/obo/HP_0410173							
HP:0410174	biolink:PhenotypicFeature	Increased circulating troponin T concentration	An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.		hp.json	Increased troponin T level in blood	http://purl.obolibrary.org/obo/HP_0410174							
HP:0410175	biolink:PhenotypicFeature	Hyperketonemia	An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.		hp.json	Increased level of ketone bodies in blood|Elevated circulating ketone body concentration|Ketonemia	http://purl.obolibrary.org/obo/HP_0410175							
HP:0410176	biolink:PhenotypicFeature	Abnormal glucose-6-phosphate dehydrogenase level	An anomaly in the level of glucose-6-phosphate dehydrogenase.		hp.json	Abnormal G6PD level	http://purl.obolibrary.org/obo/HP_0410176							
HP:0410177	biolink:PhenotypicFeature	Abnormal glucose-6-phosphate dehydrogenase level in blood	An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.		hp.json	Abnormal G6PD level in blood	http://purl.obolibrary.org/obo/HP_0410177							
HP:0410178	biolink:PhenotypicFeature	Increased glucose-6-phosphate dehydrogenase level in blood	An increase in the level of glucose-6-phosphate dehydrogenase in the blood.		hp.json	Increased G6PD level in blood	http://purl.obolibrary.org/obo/HP_0410178							
HP:0410179	biolink:PhenotypicFeature	Decreased glucose-6-phosphate dehydrogenase level in blood	A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.		hp.json	Decreased G6PD level in blood	http://purl.obolibrary.org/obo/HP_0410179							
HP:0410180	biolink:PhenotypicFeature	Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot	An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.		hp.json	Abnormal G6PD level in dried blood spot|Abnormal glucose-6-phosphate dehydrogenase level in DBS	http://purl.obolibrary.org/obo/HP_0410180							
HP:0410181	biolink:PhenotypicFeature	Increased glucose-6-phosphate dehydrogenase level in dried blood spot	An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.		hp.json	Increased G6PD level in dried blood spot|Increased glucose-6-phosphate dehydrogenase level in DBS	http://purl.obolibrary.org/obo/HP_0410181							
HP:0410182	biolink:PhenotypicFeature	Decreased glucose-6-phosphate dehydrogenase level in dried blood spot	A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.		hp.json	Decreased G6PD level in dried blood spot|Decreased glucose-6-phosphate dehydrogenase level in DBS	http://purl.obolibrary.org/obo/HP_0410182							
HP:0410183	biolink:PhenotypicFeature	Abnormal glucose-6-phosphate dehydrogenase level in leukocytes	An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.		hp.json	Abnormal G6PD level in leukocytes	http://purl.obolibrary.org/obo/HP_0410183							
HP:0410184	biolink:PhenotypicFeature	Abnormal glucose-6-phosphate dehydrogenase level in red blood cells	An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.		hp.json	Abnormal G6PD level in RBCs|Abnormal G6PD level in red blood cells	http://purl.obolibrary.org/obo/HP_0410184							
HP:0410185	biolink:PhenotypicFeature	Abnormal glucose-6-phosphate dehydrogenase level in tissue	An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.		hp.json	Abnormal G6PD level in tissue	http://purl.obolibrary.org/obo/HP_0410185							
HP:0410186	biolink:PhenotypicFeature	Increased glucose-6-phosphate dehydrogenase level in tissue	An increase in the level of glucose-6-phosphate dehydrogenase in tissue.		hp.json	Increased G6PD level in tissue	http://purl.obolibrary.org/obo/HP_0410186							
HP:0410187	biolink:PhenotypicFeature	Decreased glucose-6-phosphate dehydrogenase level in tissue	A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.		hp.json	Decreased G6PD level in tissue	http://purl.obolibrary.org/obo/HP_0410187							
HP:0410188	biolink:PhenotypicFeature	Decreased glucose-6-phosphate dehydrogenase level in red blood cells	A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.		hp.json	Decreased G6PD level in RBCs|Decreased G6PD level in red blood cells	http://purl.obolibrary.org/obo/HP_0410188							
HP:0410189	biolink:PhenotypicFeature	Increased glucose-6-phosphate dehydrogenase level in red blood cells	An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.		hp.json	Increased G6PD level in RBCs|Increased G6PD level in red blood cells	http://purl.obolibrary.org/obo/HP_0410189							
HP:0410190	biolink:PhenotypicFeature	Decreased glucose-6-phosphate dehydrogenase level in leukocytes	A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.		hp.json	Decreased G6PD level in leukocytes	http://purl.obolibrary.org/obo/HP_0410190							
HP:0410191	biolink:PhenotypicFeature	Increased glucose-6-phosphate dehydrogenase level in leukocytes	An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.		hp.json	Increased G6PD level in leukocytes	http://purl.obolibrary.org/obo/HP_0410191							
HP:0410192	biolink:PhenotypicFeature	Abnormal uridine diphosphate glucose-4-epimerase level	An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	Abnormal UDP-glucose 4-epimerase level	http://purl.obolibrary.org/obo/HP_0410192							
HP:0410193	biolink:PhenotypicFeature	Abnormal uridine diphosphate glucose-4-epimerase level in plasma	An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	Abnormal UDP-glucose 4-epimerase activity level in plasma	http://purl.obolibrary.org/obo/HP_0410193							
HP:0410194	biolink:PhenotypicFeature	Increased uridine diphosphate glucose-4-epimerase level in plasma	An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	Increased UDP-glucose 4-epimerase level in plasma	http://purl.obolibrary.org/obo/HP_0410194							
HP:0410195	biolink:PhenotypicFeature	Decreased uridine diphosphate glucose-4-epimerase level in plasma	A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	Decreased UDP-glucose 4-epimerase level in plasma	http://purl.obolibrary.org/obo/HP_0410195							
HP:0410196	biolink:PhenotypicFeature	Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells	An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	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							
HP:0410197	biolink:PhenotypicFeature	Increased uridine diphosphate glucose-4-epimerase level in red blood cells	An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	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							
HP:0410198	biolink:PhenotypicFeature	Decreased uridine diphosphate glucose-4-epimerase level in red blood cells	A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.		hp.json	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							
HP:0410199	biolink:PhenotypicFeature	Increased CSF urate concentration	Increased concentration of urate in the cerebrospinal fluid.		hp.json	Elevated CSF urate concentration|Increased cerebrospinal fluid urate	http://purl.obolibrary.org/obo/HP_0410199							
HP:0410200	biolink:PhenotypicFeature	Positive meconium barbiturate test	Detection of barbiturate metabolites such as phenobarbital in meconium.		hp.json		http://purl.obolibrary.org/obo/HP_0410200							
HP:0410201	biolink:PhenotypicFeature	Positive hair barbiturate test	Detection of barbiturate metabolites such as phenobarbital in the hair.		hp.json		http://purl.obolibrary.org/obo/HP_0410201							
HP:0410202	biolink:PhenotypicFeature	Positive stool barbiturate test	Detection of barbiturate metabolites such as phenobarbital in the stool.		hp.json		http://purl.obolibrary.org/obo/HP_0410202							
HP:0410203	biolink:PhenotypicFeature	Positive gastric fluid barbiturate test	Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0410203							
HP:0410204	biolink:PhenotypicFeature	Increased intestinal transit time	An increase in the length of time required for food to pass through the intestines.		hp.json		http://purl.obolibrary.org/obo/HP_0410204							
HP:0410205	biolink:PhenotypicFeature	Abnormal circulating nicotinurate concentration	Any deviation from the normal concentration of nicotinurate in the blood.		hp.json	Abnormal circulating N-nicotinoylglycine level|Abnormal circulating nicotinurate level	http://purl.obolibrary.org/obo/HP_0410205							
HP:0410206	biolink:PhenotypicFeature	Increased circulating nicotinurate level	An increased amount of nicotinurate in the blood.		hp.json	Increased circulating N-nicotinoylglycine level	http://purl.obolibrary.org/obo/HP_0410206							
HP:0410207	biolink:PhenotypicFeature	Positive methadone plasma/serum test	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.		hp.json		http://purl.obolibrary.org/obo/HP_0410207							
HP:0410208	biolink:PhenotypicFeature	Positive plasma/serum cotinine test	Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.		hp.json		http://purl.obolibrary.org/obo/HP_0410208							
HP:0410209	biolink:PhenotypicFeature	Folate deficiency in CSF	A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.		hp.json	Folate deficiency in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410209							
HP:0410210	biolink:PhenotypicFeature	Abnormal cord blood measurement	An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.		hp.json		http://purl.obolibrary.org/obo/HP_0410210							
HP:0410211	biolink:PhenotypicFeature	Abnormal blood gas level in cord blood			hp.json		http://purl.obolibrary.org/obo/HP_0410211							
HP:0410212	biolink:PhenotypicFeature	Hyperoxemia in cord blood	An abnormally high level of blood oxygen in the cord blood.		hp.json	High cord blood oxygen level	http://purl.obolibrary.org/obo/HP_0410212							
HP:0410213	biolink:PhenotypicFeature	Hypoxemia in cord blood	An abnormally low level of blood oxygen in the cord blood.		hp.json	Low cord blood oxygen level	http://purl.obolibrary.org/obo/HP_0410213							
HP:0410214	biolink:PhenotypicFeature	Hypercapnia in cord blood	Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.		hp.json	High cord blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0410214							
HP:0410215	biolink:PhenotypicFeature	Hypocapnia in cord blood	Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.		hp.json	Low cord blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0410215							
HP:0410216	biolink:PhenotypicFeature	Abnormal blood 5-methyltetrahydrofolate level	An abnormal concentration of 5-methyltetrahydrofolate in the blood.		hp.json	Abnormal serum methylfolate Level	http://purl.obolibrary.org/obo/HP_0410216							
HP:0410217	biolink:PhenotypicFeature	Reduced blood 5-methyltetrahydrofolate level	A decreased concentration of 5-methyltetrahydrofolate in the blood.		hp.json	Reduced serum methylfolate Level	http://purl.obolibrary.org/obo/HP_0410217							
HP:0410218	biolink:PhenotypicFeature	Hypoplasia of maxilla relative to mandible	Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).		hp.json	Disorder of maxillary and mandibular dental arch relationship	http://purl.obolibrary.org/obo/HP_0410218							
HP:0410219	biolink:PhenotypicFeature	Hypoplasia of mandible relative to maxilla	Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).		hp.json	Disorder of mandibular and maxillary dental arch relationship	http://purl.obolibrary.org/obo/HP_0410219							
HP:0410220	biolink:PhenotypicFeature	Increased anti-dairy protein IgE antibody level	Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.		hp.json	Increased anti-dairy IgE antibody level	http://purl.obolibrary.org/obo/HP_0410220							
HP:0410221	biolink:PhenotypicFeature	Increased anti-animal protein IgE antibody level	Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.		hp.json	Increased level of anti-animal protein IgE antibody	http://purl.obolibrary.org/obo/HP_0410221							
HP:0410222	biolink:PhenotypicFeature	Increased anti-seafood IgE antibody level	Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.		hp.json	Increased level of anti-seafood IgE antibody	http://purl.obolibrary.org/obo/HP_0410222							
HP:0410223	biolink:PhenotypicFeature	Increased anti-dust mite IgE antibody level	Increased level of IgE antibody against dust mites, such as house dust mites.		hp.json	Increased level of anti-dust mite IgE antibody	http://purl.obolibrary.org/obo/HP_0410223							
HP:0410224	biolink:PhenotypicFeature	Increased anti-bacteria IgE antibody level	Increased level of IgE antibody against bacteria.		hp.json	Increased level of anti-bacteria IgE antibody	http://purl.obolibrary.org/obo/HP_0410224							
HP:0410225	biolink:PhenotypicFeature	Increased anti-drug IgE antibody level	Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.		hp.json	Increased level of anti-drug IgE antibody	http://purl.obolibrary.org/obo/HP_0410225							
HP:0410226	biolink:PhenotypicFeature	Increased anti-feather IgE antibody level	Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.		hp.json		http://purl.obolibrary.org/obo/HP_0410226							
HP:0410227	biolink:PhenotypicFeature	Increased anti-food allergen IgE antibody level	Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.		hp.json	Increased level of anti-food allergen IgE antibody	http://purl.obolibrary.org/obo/HP_0410227							
HP:0410228	biolink:PhenotypicFeature	Increased anti-plant based food allergen IgE antibody level	Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.		hp.json	Increased level of anti-plant based food allergen IgE antibody	http://purl.obolibrary.org/obo/HP_0410228							
HP:0410229	biolink:PhenotypicFeature	Increased anti-gluten IgE antibody level	Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.		hp.json	Increased level of anti-gluten IgE antibody	http://purl.obolibrary.org/obo/HP_0410229							
HP:0410230	biolink:PhenotypicFeature	Increased anti-nut food product IgE antibody level	Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.		hp.json		http://purl.obolibrary.org/obo/HP_0410230							
HP:0410231	biolink:PhenotypicFeature	Increased anti-egg IgE antibody level	Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.		hp.json		http://purl.obolibrary.org/obo/HP_0410231							
HP:0410232	biolink:PhenotypicFeature	Increased anti-fungi IgE antibody level	Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.		hp.json	Increased anti-fungal IgE antibody level|Increased anti-fungus IgE antibody level	http://purl.obolibrary.org/obo/HP_0410232							
HP:0410233	biolink:PhenotypicFeature	Increased anti-meat allergen IgE antibody level	Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.		hp.json		http://purl.obolibrary.org/obo/HP_0410233							
HP:0410234	biolink:PhenotypicFeature	Increased anti-parasite IgE antibody level	Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.		hp.json		http://purl.obolibrary.org/obo/HP_0410234							
HP:0410235	biolink:PhenotypicFeature	Increased anti-insect IgE antibody level	Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.		hp.json		http://purl.obolibrary.org/obo/HP_0410235							
HP:0410236	biolink:PhenotypicFeature	Increased anti-venom IgE antibody level	Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.		hp.json		http://purl.obolibrary.org/obo/HP_0410236							
HP:0410238	biolink:PhenotypicFeature	Increased anti-plant product IgE antibody level	Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.		hp.json		http://purl.obolibrary.org/obo/HP_0410238							
HP:0410239	biolink:PhenotypicFeature	Positive urine norcotinine test	Detection of norcotinine, a metabolite of nicotine, in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410239							
HP:0410240	biolink:PhenotypicFeature	Abnormal circulating IgA level	An abnormal deviation from normal levels of IgA immunoglobulin in blood.		hp.json	Abnormal IgA level in blood	http://purl.obolibrary.org/obo/HP_0410240							
HP:0410241	biolink:PhenotypicFeature	Abnormal circulating IgE level	An abnormal deviation from normal levels of IgE immunoglobulin in blood.		hp.json	Abnormal IgE level in blood	http://purl.obolibrary.org/obo/HP_0410241							
HP:0410242	biolink:PhenotypicFeature	Abnormal circulating IgG level	An abnormal deviation from normal levels of IgG immunoglobulin in blood.		hp.json	Abnormal IgG level in blood	http://purl.obolibrary.org/obo/HP_0410242							
HP:0410243	biolink:PhenotypicFeature	Abnormal circulating IgM level	An abnormal deviation from normal levels of IgM immunoglobulin in blood.		hp.json	Abnormal IgM level in blood	http://purl.obolibrary.org/obo/HP_0410243							
HP:0410244	biolink:PhenotypicFeature	Abnormal circulating IgD level	An abnormal deviation from normal levels of IgD immunoglobulin in blood.		hp.json	Abnormal IgD level in blood	http://purl.obolibrary.org/obo/HP_0410244							
HP:0410245	biolink:PhenotypicFeature	Decreased circulating IgD	An abnormally decreased level of immunoglobulin D (IgD) in blood.		hp.json	Decreased IgD|Decreased IgD in blood|IgD deficiency	http://purl.obolibrary.org/obo/HP_0410245							
HP:0410246	biolink:PhenotypicFeature	Increased circulating IgD level	An abnormally increased level of immunoglobulin D in blood.		hp.json	Elevated IgD|Elevated serum IgD|IgD hypergammaglobulinemia|Increased IgD level|Increased levels of IgD|Increased serum IgD	http://purl.obolibrary.org/obo/HP_0410246							
HP:0410247	biolink:PhenotypicFeature	Increased anti-animal dander IgE antibody level	Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.		hp.json	Increased level of anti-dander IgE antibody	http://purl.obolibrary.org/obo/HP_0410247							
HP:0410248	biolink:PhenotypicFeature	Increased anti-house dust mite IgE antibody level	Increased level of IgE antibody against house dust mites, a common allergen.		hp.json	Increased anti-house dust IgE antibody level|Increased level of anti-house dust IgE antibody	http://purl.obolibrary.org/obo/HP_0410248							
HP:0410249	biolink:PhenotypicFeature	Increased anti-alpha-gal IgE antibody level	Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.		hp.json	Increased anti-galactose-alpha-1, 3 galactose IgE antibody level	http://purl.obolibrary.org/obo/HP_0410249							
HP:0410251	biolink:PhenotypicFeature	Abnormal L-selectin shedding	An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.		hp.json		http://purl.obolibrary.org/obo/HP_0410251							
HP:0410252	biolink:PhenotypicFeature	Chronic neutropenia	Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.		hp.json		http://purl.obolibrary.org/obo/HP_0410252							
HP:0410253	biolink:PhenotypicFeature	Myeloid maturation arrest	Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.		hp.json	Myeloid maturation arrest in bone marrow	http://purl.obolibrary.org/obo/HP_0410253							
HP:0410254	biolink:PhenotypicFeature	Cyclic neutropenia in myeloid maturation arrest in bone marrow	Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.		hp.json		http://purl.obolibrary.org/obo/HP_0410254							
HP:0410255	biolink:PhenotypicFeature	Transient neutropenia	A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.		hp.json		http://purl.obolibrary.org/obo/HP_0410255							
HP:0410256	biolink:PhenotypicFeature	Infection associated neutropenia	Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.		hp.json		http://purl.obolibrary.org/obo/HP_0410256							
HP:0410257	biolink:PhenotypicFeature	Neutrophilia in presence of infection	An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.		hp.json		http://purl.obolibrary.org/obo/HP_0410257							
HP:0410258	biolink:PhenotypicFeature	Neutrophilia in absence of infection	An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.		hp.json		http://purl.obolibrary.org/obo/HP_0410258							
HP:0410259	biolink:PhenotypicFeature	Hepatopulmonary fusion	Fusion of the liver with the lung.		hp.json	Hepatic pulmonary fusion	http://purl.obolibrary.org/obo/HP_0410259							
HP:0410260	biolink:PhenotypicFeature	Asymmetrical gluteal crease	The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.		hp.json	Asymmetrical buttock crease|Asymmetrical gluteal sulcus|Asymmetrical horizontal gluteal crease	http://purl.obolibrary.org/obo/HP_0410260							
HP:0410261	biolink:PhenotypicFeature	Wide space between 4th and 5th toe	A widely spaced gap between the fourth toe and the fifth (pinky) toe.		hp.json	Wide space between the 4th and 5th toe	http://purl.obolibrary.org/obo/HP_0410261							
HP:0410262	biolink:PhenotypicFeature	Lower cranial nerve dysfunction	A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.		hp.json	Abnormal lower cranial nerve function	http://purl.obolibrary.org/obo/HP_0410262							
HP:0410263	biolink:PhenotypicFeature	Brain imaging abnormality	An anomaly of metabolism or structure of the brain identified by imaging.		hp.json	Abnormal brain imaging	http://purl.obolibrary.org/obo/HP_0410263							
HP:0410264	biolink:PhenotypicFeature	Subglottic hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.		hp.json	Airway hemangioma	http://purl.obolibrary.org/obo/HP_0410264							
HP:0410265	biolink:PhenotypicFeature	Supraglottic hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.		hp.json		http://purl.obolibrary.org/obo/HP_0410265							
HP:0410266	biolink:PhenotypicFeature	Visceral hemangioma	A hemangioma arising from within visceral structures, the internal organs of the body.		hp.json		http://purl.obolibrary.org/obo/HP_0410266							
HP:0410267	biolink:PhenotypicFeature	Intestinal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.		hp.json	Bowel hemangioma|Intestinal hemangioma	http://purl.obolibrary.org/obo/HP_0410267							
HP:0410268	biolink:PhenotypicFeature	Spleen hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.		hp.json	Splenic hemangioma	http://purl.obolibrary.org/obo/HP_0410268							
HP:0410269	biolink:PhenotypicFeature	Labial hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.		hp.json		http://purl.obolibrary.org/obo/HP_0410269							
HP:0410270	biolink:PhenotypicFeature	Esophageal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.		hp.json		http://purl.obolibrary.org/obo/HP_0410270							
HP:0410271	biolink:PhenotypicFeature	Laryngeal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.		hp.json	Throat hemangioma	http://purl.obolibrary.org/obo/HP_0410271							
HP:0410272	biolink:PhenotypicFeature	Vulvar hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.		hp.json		http://purl.obolibrary.org/obo/HP_0410272							
HP:0410273	biolink:PhenotypicFeature	Retropharyngeal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.	NCIT:C3085	hp.json		http://purl.obolibrary.org/obo/HP_0410273							
HP:0410274	biolink:PhenotypicFeature	Paraspinal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.		hp.json		http://purl.obolibrary.org/obo/HP_0410274							
HP:0410275	biolink:PhenotypicFeature	Lumbosacral hemangioma	A spinal cord hemangioma located in the lumbosacral spine region.		hp.json	Lumbar/sacral hemangioma	http://purl.obolibrary.org/obo/HP_0410275							
HP:0410276	biolink:PhenotypicFeature	Supraumbilical raphe	An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).		hp.json	Midline supraumbilical raphe	http://purl.obolibrary.org/obo/HP_0410276							
HP:0410277	biolink:PhenotypicFeature	Sternal pit	A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.		hp.json		http://purl.obolibrary.org/obo/HP_0410277							
HP:0410278	biolink:PhenotypicFeature	Pituitary gland cyst	A fluid-filled sacs that develop on or near the pituitary gland.		hp.json	Cyst of the pituitary gland	http://purl.obolibrary.org/obo/HP_0410278							
HP:0410279	biolink:PhenotypicFeature	Atrophic pituitary gland	Partial or complete wasting (loss) of the pituitary gland.		hp.json	Atrophic pituitary|Pituitary gland atrophy	http://purl.obolibrary.org/obo/HP_0410279							
HP:0410280	biolink:PhenotypicFeature	Pediatric onset	Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.		hp.json	Paediatric onset|Onset before adulthood	http://purl.obolibrary.org/obo/HP_0410280							
HP:0410281	biolink:PhenotypicFeature	Dyspepsia	A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.		hp.json	Indigestion	http://purl.obolibrary.org/obo/HP_0410281							
HP:0410282	biolink:PhenotypicFeature	Abnormal circulating amylase level	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.json		http://purl.obolibrary.org/obo/HP_0410282							
HP:0410283	biolink:PhenotypicFeature	Positive blood acetaminophen test	Detection of acetaminophen in the blood.		hp.json	Positive blood Tylenol test|Positive blood paracetamol test	http://purl.obolibrary.org/obo/HP_0410283							
HP:0410284	biolink:PhenotypicFeature	Positive norpropoxyphene blood test	Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.		hp.json		http://purl.obolibrary.org/obo/HP_0410284							
HP:0410285	biolink:PhenotypicFeature	Positive meconium methadone test	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.		hp.json		http://purl.obolibrary.org/obo/HP_0410285							
HP:0410286	biolink:PhenotypicFeature	Positive blood molindone test	Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.		hp.json	Positive blood Moban test	http://purl.obolibrary.org/obo/HP_0410286							
HP:0410287	biolink:PhenotypicFeature	Intrathoracic hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.		hp.json	Chest hemangioma	http://purl.obolibrary.org/obo/HP_0410287							
HP:0410288	biolink:PhenotypicFeature	Hyperamylasemia	Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.		hp.json	Increased circulating amylase level	http://purl.obolibrary.org/obo/HP_0410288							
HP:0410289	biolink:PhenotypicFeature	Hypoamylasemia	Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.		hp.json	Decreased circulating amylase level	http://purl.obolibrary.org/obo/HP_0410289							
HP:0410290	biolink:PhenotypicFeature	Positive urine norpropoxyphene test	Detection of norpropoxyphene in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410290							
HP:0410291	biolink:PhenotypicFeature	Negativism	Opposing or not responding to instructions or external stimuli.		hp.json		http://purl.obolibrary.org/obo/HP_0410291							
HP:0410292	biolink:PhenotypicFeature	Abnormal isohemagglutinin level	An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).		hp.json	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							
HP:0410293	biolink:PhenotypicFeature	Absent isohemagglutinin level	Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).		hp.json	Absent natural antibody to blood group agents|Complete or near-complete absence of isohemagglutinins	http://purl.obolibrary.org/obo/HP_0410293							
HP:0410294	biolink:PhenotypicFeature	Decreased specific antibody response to protein vaccine	A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410294							
HP:0410295	biolink:PhenotypicFeature	Complete or near-complete absence of specific antibody response to tetanus vaccine	The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410295							
HP:0410296	biolink:PhenotypicFeature	Complete or near-complete absence of specific antibody response to hepatitis B vaccine	The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410296							
HP:0410297	biolink:PhenotypicFeature	Partial absence of specific antibody response to tetanus vaccine	A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410297							
HP:0410298	biolink:PhenotypicFeature	Partial absence of specific antibody response to hepatitis B vaccine	A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410298							
HP:0410299	biolink:PhenotypicFeature	Decreased specific antibody response to polysaccharide vaccine	A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410299							
HP:0410300	biolink:PhenotypicFeature	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410300							
HP:0410301	biolink:PhenotypicFeature	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410301							
HP:0410302	biolink:PhenotypicFeature	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410302							
HP:0410303	biolink:PhenotypicFeature	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410303							
HP:0410304	biolink:PhenotypicFeature	Complete or near-complete absence of specific antibody response to meningococcus vaccine	The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410304							
HP:0410305	biolink:PhenotypicFeature	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410305							
HP:0410306	biolink:PhenotypicFeature	Partial absence of specific antibody response to meningococcus vaccine	A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.		hp.json		http://purl.obolibrary.org/obo/HP_0410306							
HP:0410307	biolink:PhenotypicFeature	Positive stool methadone test	Detection of methadone and its metabolites in the stool.		hp.json		http://purl.obolibrary.org/obo/HP_0410307							
HP:0410308	biolink:PhenotypicFeature	Decreased specific antibody response to infection	A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.		hp.json		http://purl.obolibrary.org/obo/HP_0410308							
HP:0410309	biolink:PhenotypicFeature	Alpha-aminoadipic aciduria	A increased concentration of alpha-aminoadipic acid in the urine.		hp.json	2-aminoadipic aciduria	http://purl.obolibrary.org/obo/HP_0410309							
HP:0410310	biolink:PhenotypicFeature	Abnormality of neutrophil morphology in CSF	An abnormal form or size of neutrophils in the cerebrospinal fluid.		hp.json	Abnormality of neutrophil morphology in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410310							
HP:0410311	biolink:PhenotypicFeature	Hyposegmentation of neutrophil nuclei in CSF	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.		hp.json	Hyposegmentation of neutrophil nuclei in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410311							
HP:0410312	biolink:PhenotypicFeature	Hypersegmentation of neutrophil nuclei in CSF	An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.		hp.json	Hypersegmentation of neutrophil nuclei in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410312							
HP:0410313	biolink:PhenotypicFeature	Abnormal urinary 1-methylhistidine concentration	Abnormal concentration of 1-methylhistidine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410313							
HP:0410314	biolink:PhenotypicFeature	Decreased urinary 1-methylhistidine	Decreased concentration of 1-methylhistidine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410314							
HP:0410315	biolink:PhenotypicFeature	Increased urinary 1-methylhistidine	Increased concentration of 1-methylhistidine in the urine.		hp.json	1-Methylhistidinuria	http://purl.obolibrary.org/obo/HP_0410315							
HP:0410316	biolink:PhenotypicFeature	Abnormal urinary 3-methylhistidine level	Abnormal amount of 3-methylhistidine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410316							
HP:0410317	biolink:PhenotypicFeature	Increased urinary 3-methylhistidine	Increased concentration of 3-methylhistidine in the urine.		hp.json	3-Methylhistidinuria	http://purl.obolibrary.org/obo/HP_0410317							
HP:0410318	biolink:PhenotypicFeature	Decreased urinary 3-methylhistidine	Decreased concentration of 3-methylhistidine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0410318							
HP:0410319	biolink:PhenotypicFeature	Alpha-gal allergy	Hypersensitivity in form of an adverse immune reaction against alpha-gal.		hp.json	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							
HP:0410320	biolink:PhenotypicFeature	Animal protein allergy	Hypersensitivity in form of an adverse immune reaction against animal proteins.		hp.json	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							
HP:0410321	biolink:PhenotypicFeature	Animal dander allergy	Hypersensitivity in form of an adverse immune reaction against animal dander.		hp.json	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							
HP:0410322	biolink:PhenotypicFeature	Bacteria allergy	Hypersensitivity in form of an adverse immune reaction against bacteria.		hp.json	Bacteria allergy|Allergy to bacteria|IgE-mediated bacteria allergy|Immunoglobulin E-mediated bacteria allergy	http://purl.obolibrary.org/obo/HP_0410322							
HP:0410323	biolink:PhenotypicFeature	Drug allergy	Hypersensitivity in form of an adverse immune reaction against drugs.		hp.json	Drug allergy|Allergy to drugs|IgE-mediated drug allergy|Immunoglobulin E-mediated drug allergy	http://purl.obolibrary.org/obo/HP_0410323							
HP:0410324	biolink:PhenotypicFeature	Dust mite allergy	Hypersensitivity in form of an adverse immune reaction against dust mites.		hp.json	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							
HP:0410325	biolink:PhenotypicFeature	House dust mite allergy	Hypersensitivity in form of an adverse immune reaction against house dust mites.		hp.json	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							
HP:0410326	biolink:PhenotypicFeature	Feather allergy	Hypersensitivity in form of an adverse immune reaction against feathers.		hp.json	Feather allergy|Allergy to feathers|IgE-mediated feather allergy|Immunoglobulin E-mediated feather allergy	http://purl.obolibrary.org/obo/HP_0410326							
HP:0410327	biolink:PhenotypicFeature	Dairy allergy	Hypersensitivity in form of an adverse immune reaction against dairy.		hp.json	Dairy allergy|Allergy to dairy|IgE-mediated dairy allergy|Immunoglobulin E-mediated dairy allergy	http://purl.obolibrary.org/obo/HP_0410327							
HP:0410328	biolink:PhenotypicFeature	Egg allergy	Hypersensitivity in form of an adverse immune reaction against eggs.		hp.json	Egg allergy|Allergy to eggs|IgE-mediated egg allergy|Immunoglobulin E-mediated egg allergy	http://purl.obolibrary.org/obo/HP_0410328							
HP:0410329	biolink:PhenotypicFeature	Gluten allergy	Hypersensitivity in form of an adverse immune reaction against gluten.		hp.json	Gluten allergy|Allergy to gluten|IgE-mediated gluten allergy|Immunoglobulin E-mediated gluten allergy	http://purl.obolibrary.org/obo/HP_0410329							
HP:0410330	biolink:PhenotypicFeature	Meat allergen allergy	Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.		hp.json	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							
HP:0410331	biolink:PhenotypicFeature	Nut food product allergy	Hypersensitivity in form of an adverse immune reaction against nut food products.		hp.json	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							
HP:0410332	biolink:PhenotypicFeature	Plant based food allergy	Hypersensitivity in form of an adverse immune reaction against plant based food allergens.		hp.json	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							
HP:0410333	biolink:PhenotypicFeature	Seafood allergy	Hypersensitivity in form of an adverse immune reaction against seafood.		hp.json	Seafood allergy|Allergy to seafood|IgE-mediated seafood allergy|Immunoglobulin E-mediated seafood allergy	http://purl.obolibrary.org/obo/HP_0410333							
HP:0410334	biolink:PhenotypicFeature	Fungi allergy	Hypersensitivity in form of an adverse immune reaction against fungus.		hp.json	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							
HP:0410335	biolink:PhenotypicFeature	Insect allergy	Hypersensitivity in form of an adverse immune reaction against insects.		hp.json	Insect allergy|Allergy to insects|IgE-mediated insect allergy|Immunoglobulin E-mediated insect allergy	http://purl.obolibrary.org/obo/HP_0410335							
HP:0410336	biolink:PhenotypicFeature	Venom allergy	Hypersensitivity in form of an adverse immune reaction against insect venom.		hp.json	Venom allergy|Allergy to venom|IgE-mediated venom allergy|Immunoglobulin E-mediated venom allergy	http://purl.obolibrary.org/obo/HP_0410336							
HP:0410337	biolink:PhenotypicFeature	Parasite allergy	Hypersensitivity in form of an adverse immune reaction against parasites.		hp.json	Parasite allergy|Allergy to parasites|IgE-mediated parasite allergy|Immunoglobulin E-mediated parasite allergy	http://purl.obolibrary.org/obo/HP_0410337							
HP:0410338	biolink:PhenotypicFeature	Plant product allergy	Hypersensitivity in form of an adverse immune reaction against plant products.		hp.json	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							
HP:0410339	biolink:PhenotypicFeature	Insect bite allergy	Hypersensitivity in form of an adverse immune reaction against insect bites.		hp.json	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							
HP:0410340	biolink:PhenotypicFeature	Focal epithelial hyperplasia of oral mucosa	The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.		hp.json	Focal epithelial hyperplasia of the lining of mouth|Oral mucosa epithelial hyperplasia	http://purl.obolibrary.org/obo/HP_0410340							
HP:0410341	biolink:PhenotypicFeature	Abnormal circulating heparan sulfate level	An abnormal level of heparan sulfate in the blood.		hp.json	Abnormal circulating heparan sulphate level|Abnormality of the concentration of heparan sulphate in the blood|Abnormality of the concentration of heparan sulfate in the blood	http://purl.obolibrary.org/obo/HP_0410341							
HP:0410342	biolink:PhenotypicFeature	Increased circulating heparan sulfate level	An abnormal increase in the concentration of heparan sulfate in the blood.		hp.json	Increased blood heparan sulphate concentration|Increased circulating heparan sulphate level|Increased blood heparan sulfate concentration	http://purl.obolibrary.org/obo/HP_0410342							
HP:0410343	biolink:PhenotypicFeature	Decreased circulating heparan sulfate level	An abnormal decrease in the concentration of heparan sulfate in the blood.		hp.json	Decreased blood heparan sulphate concentration|Decreased circulating heparan sulphate level|Decreased blood heparan sulfate concentration	http://purl.obolibrary.org/obo/HP_0410343							
HP:0410344	biolink:PhenotypicFeature	Shortened O-fucosylated glycan on properdin	Decreased length of O-fucosylated glycans present on properdin.		hp.json	Presence of terminal O-fucose glycans on properdin	http://purl.obolibrary.org/obo/HP_0410344							
HP:0410345	biolink:PhenotypicFeature	Increased urinary polyhexose	An abnormal increase in the concentration of polyhexose in the urine.		hp.json	Increased polyhexose concentration in urine	http://purl.obolibrary.org/obo/HP_0410345							
HP:0410346	biolink:PhenotypicFeature	Increased urinary galactosylated oligosaccharide	An abnormal increase in the concentration of galactosylated oligosaccharides in urine.		hp.json	Increased concentration of galactosylated oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410346							
HP:0410347	biolink:PhenotypicFeature	Increased urinary high-mannose-type oligosaccharide	An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.		hp.json	Increased concentration of high-mannose-type oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410347							
HP:0410348	biolink:PhenotypicFeature	Increased urinary multiantennary sialylated oligosaccharide	An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.		hp.json	Increase concentration of multiantennary sialylated oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410348							
HP:0410349	biolink:PhenotypicFeature	Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level	An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.		hp.json		http://purl.obolibrary.org/obo/HP_0410349							
HP:0410350	biolink:PhenotypicFeature	Increased urinary fucosylated oligosaccharide	An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.		hp.json	Increased concentration of fucosylated oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410350							
HP:0410351	biolink:PhenotypicFeature	Abnormal complex N-glycan level	An abnormal concentration of complex N-glycans on glycoproteins.		hp.json	Abnormal concentration of complex N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410351							
HP:0410352	biolink:PhenotypicFeature	Increased complex N-glycan level	An abnormal increase in the concentration of complex N-glycans on glycoproteins.		hp.json	Increased concentration of complex N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410352							
HP:0410353	biolink:PhenotypicFeature	Decreased complex N-glycan level	An abnormal decrease in the concentration of complex N-glycans on glycoproteins.		hp.json	Increased truncated complex N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410353							
HP:0410354	biolink:PhenotypicFeature	Increased sialylated N-glycan level	An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.		hp.json	Increased concentration of sialylated N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410354							
HP:0410355	biolink:PhenotypicFeature	Decreased sialylated N-glycan level	An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.		hp.json	Decreased concentration of sialylated N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410355							
HP:0410356	biolink:PhenotypicFeature	Abnormal high-mannose N-glycan level	An abnormal concentration of high-mannose N-glycans on glycoproteins.		hp.json	Abnormal high-mannose N-glycans on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410356							
HP:0410357	biolink:PhenotypicFeature	Increased high-mannose N-glycan level	An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.		hp.json	Increased high-mannose N-glycans on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410357							
HP:0410358	biolink:PhenotypicFeature	Decreased high-mannose N-glycan level	An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.		hp.json	Decreased high-mannose N-glycans on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410358							
HP:0410359	biolink:PhenotypicFeature	Abnormal core 1 O-glycan level	An abnormal in the concentration of core 1 O-glycans on glycoproteins.		hp.json	Abnormal concentration of T-antigen	http://purl.obolibrary.org/obo/HP_0410359							
HP:0410360	biolink:PhenotypicFeature	Increased core 1 O-glycan level	An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.		hp.json	Increased T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410360							
HP:0410361	biolink:PhenotypicFeature	Decreased core 1 O-glycan level	An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.		hp.json	Decreased T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410361							
HP:0410362	biolink:PhenotypicFeature	Decreased O-mannosyl glycans on alpha-dystroglycan	Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.		hp.json	Reduced O-mannosyl glycans on alpha-dystroglycan	http://purl.obolibrary.org/obo/HP_0410362							
HP:0410363	biolink:PhenotypicFeature	Increased monosialylated core 1 O-glycan level	An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.		hp.json	Increased sialyl T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410363							
HP:0410364	biolink:PhenotypicFeature	Decreased monosialylated core 1 O-glycan level	An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.		hp.json	Decreased sialyl T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410364							
HP:0410365	biolink:PhenotypicFeature	Increased disialylated core 1 O-glycan level	An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.		hp.json	Increased disialyl T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410365							
HP:0410366	biolink:PhenotypicFeature	Increased globoside Gb4 level	An abnormal increase in the concentration of globoside Gb4.		hp.json	Increased globoside Gb4 concentration	http://purl.obolibrary.org/obo/HP_0410366							
HP:0410367	biolink:PhenotypicFeature	Increased hepatitis A virus antibody level	An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0410367							
HP:0410368	biolink:PhenotypicFeature	Increased globoside Gb3 level	An abnormal increase in the concentration of glycolipid globoside Gb3.		hp.json	Increased globoside Gb3 concentration	http://purl.obolibrary.org/obo/HP_0410368							
HP:0410369	biolink:PhenotypicFeature	Increased hepatitis B virus antibody level	An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0410369							
HP:0410370	biolink:PhenotypicFeature	Absence of ganglioside GM3	The absence of ganglioside GM3.		hp.json		http://purl.obolibrary.org/obo/HP_0410370							
HP:0410371	biolink:PhenotypicFeature	Increased hepatitis C virus antibody level	An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.		hp.json		http://purl.obolibrary.org/obo/HP_0410371							
HP:0410372	biolink:PhenotypicFeature	Increased Tn-antigen level	An abnormal increase in the concentration of Tn antigen on glycoproteins.		hp.json	Increased O-GalNac on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410372							
HP:0410373	biolink:PhenotypicFeature	Abnormal proportion of naive CD4 T cells	Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.		hp.json	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							
HP:0410374	biolink:PhenotypicFeature	Abnormal proportion of naive CD8 T cells	Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.		hp.json		http://purl.obolibrary.org/obo/HP_0410374							
HP:0410375	biolink:PhenotypicFeature	Increased proportion of naive CD4 T cells			hp.json	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	biolink:PhenotypicFeature	Increased proportion of naive CD8 T cells	An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.		hp.json	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							
HP:0410377	biolink:PhenotypicFeature	Decreased proportion of naive CD8 T cells	An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.		hp.json	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							
HP:0410378	biolink:PhenotypicFeature	Decreased proportion of naive CD4 T cells	An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.		hp.json	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							
HP:0410379	biolink:PhenotypicFeature	Abnormal proportion of CD4-positive, alpha-beta memory T cells	An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.		hp.json		http://purl.obolibrary.org/obo/HP_0410379							
HP:0410380	biolink:PhenotypicFeature	Abnormal proportion of CD8-positive, alpha-beta memory T cells	An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.		hp.json		http://purl.obolibrary.org/obo/HP_0410380							
HP:0410381	biolink:PhenotypicFeature	Abnormal proportion of central memory CD4-positive, alpha-beta T cells	An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410381							
HP:0410382	biolink:PhenotypicFeature	obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells			hp.json		http://purl.obolibrary.org/obo/HP_0410382							
HP:0410383	biolink:PhenotypicFeature	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410383							
HP:0410384	biolink:PhenotypicFeature	Abnormal proportion of central memory CD8-positive, alpha-beta T cells	An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410384							
HP:0410385	biolink:PhenotypicFeature	Decreased proportion of CD8-positive, alpha-beta memory T cells	Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.		hp.json		http://purl.obolibrary.org/obo/HP_0410385							
HP:0410386	biolink:PhenotypicFeature	Decreased proportion of CD4-positive, alpha-beta memory T cells	Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.		hp.json		http://purl.obolibrary.org/obo/HP_0410386							
HP:0410387	biolink:PhenotypicFeature	obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells			hp.json		http://purl.obolibrary.org/obo/HP_0410387							
HP:0410388	biolink:PhenotypicFeature	Decreased proportion of central memory CD4-positive, alpha-beta T cells	A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json	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							
HP:0410389	biolink:PhenotypicFeature	Decreased proportion of central memory CD8-positive, alpha-beta T cells	A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410389							
HP:0410390	biolink:PhenotypicFeature	Decreased proportion of effector memory CD8-positive, alpha-beta T cells	A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410390							
HP:0410391	biolink:PhenotypicFeature	Increased proportion of CD4-positive, alpha-beta memory T cells	An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.		hp.json		http://purl.obolibrary.org/obo/HP_0410391							
HP:0410392	biolink:PhenotypicFeature	Increased proportion of CD8-positive, alpha-beta memory T cells	An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.		hp.json		http://purl.obolibrary.org/obo/HP_0410392							
HP:0410393	biolink:PhenotypicFeature	Increased proportion of central memory CD4-positive, alpha-beta T cells	An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json	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							
HP:0410394	biolink:PhenotypicFeature	Increased proportion of effector memory CD4-positive, alpha-beta T cells	An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410394							
HP:0410395	biolink:PhenotypicFeature	Increased proportion of effector memory CD8-positive, alpha-beta T cells	An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410395							
HP:0410396	biolink:PhenotypicFeature	Increased proportion of central memory CD8-positive, alpha-beta T cells	An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.		hp.json		http://purl.obolibrary.org/obo/HP_0410396							
HP:0410397	biolink:PhenotypicFeature	Bronchiolectasis	Saccular dilatation of the terminal bronchioles.		hp.json	Bronchiolectasia	http://purl.obolibrary.org/obo/HP_0410397							
HP:0410399	biolink:PhenotypicFeature	Positive blood lead test	Detection of lead in the blood.		hp.json	Increased blood lead level	http://purl.obolibrary.org/obo/HP_0410399							
HP:0410400	biolink:PhenotypicFeature	Absent sebaceous glands	Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.		hp.json	Absence of sebaceous glands	http://purl.obolibrary.org/obo/HP_0410400							
HP:0410401	biolink:PhenotypicFeature	Worse in evening	Applies to a sign or symptom that is exacerbated in the evening as compared to the day.		hp.json		http://purl.obolibrary.org/obo/HP_0410401							
HP:0430000	biolink:PhenotypicFeature	Abnormality of the frontal bone	An abnormality of the frontal bone.	UMLS:C4021873	hp.json	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							
HP:0430002	biolink:PhenotypicFeature	Abnormality of the lacrimal bone	An abnormality of the lacrimal bone.	UMLS:C4021872	hp.json	Anomaly of the lacrimal bone|Deformity of the lacrimal bone|Malformation of the lacrimal bone	http://purl.obolibrary.org/obo/HP_0430002							
HP:0430003	biolink:PhenotypicFeature	Abnormality of the palatine bone	An abnormality of the palatine bone.	UMLS:C4021871	hp.json	Anomaly of the palatine bone|Deformity of the palatine bone|Malformation of the palatine bone	http://purl.obolibrary.org/obo/HP_0430003							
HP:0430004	biolink:PhenotypicFeature	Frontomalar faciosynostosis		UMLS:C4021870	hp.json		http://purl.obolibrary.org/obo/HP_0430004							
HP:0430005	biolink:PhenotypicFeature	Abnormality of ethmoid bone	An abnormality of the ethmoid bone	UMLS:C4021869	hp.json	Anomaly of the ethmoid bone|Deformity of the ethmoid bone|Malformation of the ethmoid bone	http://purl.obolibrary.org/obo/HP_0430005							
HP:0430006	biolink:PhenotypicFeature	Ectopic cilia of eyelid	An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.	SNOMEDCT_US:95504004|UMLS:C0521574	hp.json		http://purl.obolibrary.org/obo/HP_0430006							
HP:0430007	biolink:PhenotypicFeature	Symblepharon	A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.	SNOMEDCT_US:90216006|UMLS:C0152454	hp.json	Eyelid stuck to eyeball|Eyelid adhesion to globe of eye	http://purl.obolibrary.org/obo/HP_0430007							
HP:0430008	biolink:PhenotypicFeature	Accessory eyelid	The presence of more than the normal number of eyelids.	SNOMEDCT_US:24606006|UMLS:C0266576|UMLS:C4280275	hp.json	Extra eyelid|Double eyelid	http://purl.obolibrary.org/obo/HP_0430008							
HP:0430009	biolink:PhenotypicFeature	Hypoplasia of eyelid	Developmental hypoplasia of the eyelid.	SNOMEDCT_US:204203001|UMLS:C0344499|UMLS:C4280274	hp.json	Small eyelid|Decreased size of eyelid|Underdevelopment of eyelid|Short eyelid	http://purl.obolibrary.org/obo/HP_0430009							
HP:0430010	biolink:PhenotypicFeature	Microblepharia	Abnormal shortness of the vertical dimensions of the eyelids.	SNOMEDCT_US:94684003|UMLS:C0685873	hp.json	Abnormally small eyelid	http://purl.obolibrary.org/obo/HP_0430010							
HP:0430011	biolink:PhenotypicFeature	Defect of palpebral conjunctiva	An abnormality of the palpebral conjunctiva.	UMLS:C4021868	hp.json		http://purl.obolibrary.org/obo/HP_0430011							
HP:0430012	biolink:PhenotypicFeature	Incomplete ossification of palatine bone	Failure to complete ossification (maturation and calcification) of the palatine bone.	SNOMEDCT_US:93595006|UMLS:C0685213	hp.json	Incomplete calcification of palatine bone|Incomplete mineralization of palatine bone|Incomplete formation of palatine bone	http://purl.obolibrary.org/obo/HP_0430012							
HP:0430013	biolink:PhenotypicFeature	Absent palatine bone ossification	Lack of formation of the palatine bone.	UMLS:C4021867	hp.json	Absence of palatine bone calcification|Absence of palatine bone mineralization|Absence of palatine bone formation	http://purl.obolibrary.org/obo/HP_0430013							
HP:0430014	biolink:PhenotypicFeature	Abnormality of musculature of soft palate	An abnormality of one or more of the five muscles of the soft palate.	UMLS:C4073196	hp.json	Abnormality of soft palate muscles	http://purl.obolibrary.org/obo/HP_0430014							
HP:0430015	biolink:PhenotypicFeature	Abnormal morphology of musculature of pharynx	An abnormality of any of the muscles of the pharynx.	UMLS:C4073197	hp.json	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							
HP:0430016	biolink:PhenotypicFeature	Abnormality of tensor veli palatini muscle	An abnormality of the tensor veli palatini muscle	UMLS:C4073198	hp.json		http://purl.obolibrary.org/obo/HP_0430016							
HP:0430017	biolink:PhenotypicFeature	Abnormality of uvular muscle	An abnormality of the uvular muscle	UMLS:C4073199	hp.json	Abnormality of musculus uvulae	http://purl.obolibrary.org/obo/HP_0430017							
HP:0430018	biolink:PhenotypicFeature	Abnormality of nasal musculature	An abnormality of the muscles of the structure of the nose.	UMLS:C4073200	hp.json	Abnormality of muscle of nose|Abnormality of musculature of the nose|Abnormality of nasal musculature	http://purl.obolibrary.org/obo/HP_0430018							
HP:0430019	biolink:PhenotypicFeature	Abnormality of muscle of facial expression	An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.	UMLS:C4073201	hp.json	Abnormality of muscle of facial expression|Abnormality of musculature of facial expression	http://purl.obolibrary.org/obo/HP_0430019							
HP:0430020	biolink:PhenotypicFeature	Abnormality of levator labii superioris alaeque nasi muscle	An abnormality of the levator labii superioris alaeque nasi muscle.	UMLS:C4073202	hp.json		http://purl.obolibrary.org/obo/HP_0430020							
HP:0430021	biolink:PhenotypicFeature	Abnormal common carotid artery morphology	An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.	UMLS:C4073203	hp.json	Abnormality of the common carotid artery	http://purl.obolibrary.org/obo/HP_0430021							
HP:0430022	biolink:PhenotypicFeature	Abnormality of the sphenoid sinus	An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.	UMLS:C4073204	hp.json	Abnormality of the sphenoidal sinus	http://purl.obolibrary.org/obo/HP_0430022							
HP:0430023	biolink:PhenotypicFeature	Abnormality of the maxillary sinus	An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.	UMLS:C4073205	hp.json	Abnormality of the upper jaw sinus|Abnormality of the antrum of Highmore|Abnormality of the maxillary antrum	http://purl.obolibrary.org/obo/HP_0430023							
HP:0430024	biolink:PhenotypicFeature	Abnormality of external jugular vein	An abnormality of an external jugular vein of the neck.	UMLS:C4073206	hp.json		http://purl.obolibrary.org/obo/HP_0430024							
HP:0430025	biolink:PhenotypicFeature	Bilateral facial palsy	Two-sided or bilateral weakness of the muscles of facial expression and eye closure.	UMLS:C4073207	hp.json	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							
HP:0430026	biolink:PhenotypicFeature	Abnormality of the shape of the midface	An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.	UMLS:C4073208	hp.json	Abnormality of the shape of the midface|Abnormal morphology of the midface|Dysmorphic midface	http://purl.obolibrary.org/obo/HP_0430026							
HP:0430028	biolink:PhenotypicFeature	Hyperplasia of the maxilla	Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.	SNOMEDCT_US:28070007|UMLS:C0266081|UMLS:C2227090|UMLS:C4073209|UMLS:C4280272|UMLS:C4280273	hp.json	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							
HP:0430029	biolink:PhenotypicFeature	Hyperplasia of the premaxilla	An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.	UMLS:C4073210	hp.json	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							
HP:0500001	biolink:PhenotypicFeature	Body odor	A perceived unpleasant smell given off by the body.		hp.json	BO|Body odor|Body odour|Bromhidrosis|Bromidrosis|Osmidrosis	http://purl.obolibrary.org/obo/HP_0500001							
HP:0500005	biolink:PhenotypicFeature	Anal pain	Pain in and around the anus or rectum (perianal region).		hp.json	Anal pain|Rectal pain	http://purl.obolibrary.org/obo/HP_0500005							
HP:0500006	biolink:PhenotypicFeature	Urethritis	Inflammation of the urethra.		hp.json		http://purl.obolibrary.org/obo/HP_0500006							
HP:0500007	biolink:PhenotypicFeature	Iris flocculi	Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.		hp.json		http://purl.obolibrary.org/obo/HP_0500007							
HP:0500008	biolink:PhenotypicFeature	Cornea verticillata	Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.		hp.json	Vortex keratopathy	http://purl.obolibrary.org/obo/HP_0500008							
HP:0500009	biolink:PhenotypicFeature	Dysplastic gangliocytoma of the cerebellum	It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.		hp.json	LDD|Lhermitte-Duclos disease	http://purl.obolibrary.org/obo/HP_0500009							
HP:0500010	biolink:PhenotypicFeature	obsolete Increased cholesterol esters			hp.json		http://purl.obolibrary.org/obo/HP_0500010							
HP:0500011	biolink:PhenotypicFeature	Moon facies	A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.		hp.json	Moon face|Puffy face|Puffy facies	http://purl.obolibrary.org/obo/HP_0500011							
HP:0500012	biolink:PhenotypicFeature	Abnormality of gonadotropin-releasing hormone level	A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.		hp.json	Abnormality of GnRH level	http://purl.obolibrary.org/obo/HP_0500012							
HP:0500013	biolink:PhenotypicFeature	Lack of gonadotropin-releasing hormone pulsatility	Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.		hp.json	Absence of GnRH pulsatility	http://purl.obolibrary.org/obo/HP_0500013							
HP:0500014	biolink:PhenotypicFeature	obsolete Abnormal test result			hp.json		http://purl.obolibrary.org/obo/HP_0500014							
HP:0500015	biolink:PhenotypicFeature	Abnormal cardiac test	Abnormal test result of cardiovascular physiology.		hp.json		http://purl.obolibrary.org/obo/HP_0500015							
HP:0500016	biolink:PhenotypicFeature	Abnormal cardiac MRI	Abnormal results of a MRI for the heart.		hp.json	Abnormal cardiac magnetic resonance imaging|Abnormal heart MRI	http://purl.obolibrary.org/obo/HP_0500016							
HP:0500017	biolink:PhenotypicFeature	Abnormal cardiac catheterization	Abnormal results from the diagnostic tests resulting from cardiac catheterization.		hp.json	Abnormal cardiac cath	http://purl.obolibrary.org/obo/HP_0500017							
HP:0500018	biolink:PhenotypicFeature	Abnormal cardiac exercise stress test	Abnormal results of exercise on heart function.		hp.json	Abnormal exercise test|Abnormal treadmill test|Abnormal cardiac exercise test	http://purl.obolibrary.org/obo/HP_0500018							
HP:0500019	biolink:PhenotypicFeature	Abnormal resting energy expenditure from metabolic cart test	Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).		hp.json	Abnormal metabolic cart test	http://purl.obolibrary.org/obo/HP_0500019							
HP:0500020	biolink:PhenotypicFeature	Abnormal cardiac biomarker test	Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.		hp.json		http://purl.obolibrary.org/obo/HP_0500020							
HP:0500021	biolink:PhenotypicFeature	Reduced brain gamma-aminobutyric acid level by MRS	An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).		hp.json		http://purl.obolibrary.org/obo/HP_0500021							
HP:0500022	biolink:PhenotypicFeature	Abnormal circulating dehydroepiandrosterone concentration	A deviation from the normal concentration of dehydroepiandrosterone in the circulation.		hp.json	Abnormal serum DHEA|Abnormal serum androstenolone level|Abnormal serum dehydroepiandrosterone level	http://purl.obolibrary.org/obo/HP_0500022							
HP:0500023	biolink:PhenotypicFeature	Shoulder muscle aplasia	Absence of shoulder muscles.		hp.json	Absent shoulder muscle	http://purl.obolibrary.org/obo/HP_0500023							
HP:0500024	biolink:PhenotypicFeature	Aplasia of the musculature of the pelvis	Absence of the musculature of the pelvis.		hp.json		http://purl.obolibrary.org/obo/HP_0500024							
HP:0500026	biolink:PhenotypicFeature	Hypoplasia of the musculature of the pelvis	Underdevelopment of the musculature of the pelvis.		hp.json		http://purl.obolibrary.org/obo/HP_0500026							
HP:0500027	biolink:PhenotypicFeature	Aplastic colon	Congenital absence of the colon		hp.json	Absence of the colon|Aplasia of the colon	http://purl.obolibrary.org/obo/HP_0500027							
HP:0500028	biolink:PhenotypicFeature	Cotton wool plaques	Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.		hp.json	CWPs	http://purl.obolibrary.org/obo/HP_0500028							
HP:0500030	biolink:PhenotypicFeature	Abnormal hepatic glycogen storage	Change in normal glycogen storage content.		hp.json		http://purl.obolibrary.org/obo/HP_0500030							
HP:0500031	biolink:PhenotypicFeature	Sclerosis of the carpal bones	An elevation in bone density in one or more carpal bones of the hand.		hp.json		http://purl.obolibrary.org/obo/HP_0500031							
HP:0500032	biolink:PhenotypicFeature	Abnormal neuron branching	Abnormality of the structure and branching of the dendrites of a neuron.		hp.json	Aberrant neuronal branching|Abnormal neuronal branching	http://purl.obolibrary.org/obo/HP_0500032							
HP:0500033	biolink:PhenotypicFeature	Abnormal natural killer subset distribution	Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.		hp.json		http://purl.obolibrary.org/obo/HP_0500033							
HP:0500034	biolink:PhenotypicFeature	Nasolacrimal sac obstruction	Blockage of the nasolacrimal sac.		hp.json		http://purl.obolibrary.org/obo/HP_0500034							
HP:0500035	biolink:PhenotypicFeature	Nasolacrimal sac granuloma	A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.		hp.json		http://purl.obolibrary.org/obo/HP_0500035							
HP:0500036	biolink:PhenotypicFeature	Nasolacrimal sac papilloma	Benign tumor of the nasolacrimal sac.		hp.json		http://purl.obolibrary.org/obo/HP_0500036							
HP:0500037	biolink:PhenotypicFeature	Nasolacrimal sac epithelial papillary carcinoma	The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.		hp.json		http://purl.obolibrary.org/obo/HP_0500037							
HP:0500039	biolink:PhenotypicFeature	Conjunctival cicatrization	An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.		hp.json	Cicatricial conjunctivitis|Cicatrizating conjunctivitis|Conjunctival cicatricial conjunctivitis	http://purl.obolibrary.org/obo/HP_0500039							
HP:0500040	biolink:PhenotypicFeature	Dermolipoma of the conjunctiva	A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.		hp.json	Conjunctival lipodermoid	http://purl.obolibrary.org/obo/HP_0500040							
HP:0500041	biolink:PhenotypicFeature	Myopic astigmatism	A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.		hp.json		http://purl.obolibrary.org/obo/HP_0500041							
HP:0500042	biolink:PhenotypicFeature	Latent hypermetropia	A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.		hp.json	Latent hyperopia	http://purl.obolibrary.org/obo/HP_0500042							
HP:0500043	biolink:PhenotypicFeature	Eyelid retraction	With the eyes in primary position, the sclera is visible above the superior corneal limbus.		hp.json		http://purl.obolibrary.org/obo/HP_0500043							
HP:0500044	biolink:PhenotypicFeature	Upper eyelid retraction	An elevation of the eyelid above the normal level in the primary position.		hp.json		http://purl.obolibrary.org/obo/HP_0500044							
HP:0500045	biolink:PhenotypicFeature	Collier's sign	A unilateral or bilateral eyelid retraction due to midbrain lesions.		hp.json		http://purl.obolibrary.org/obo/HP_0500045							
HP:0500046	biolink:PhenotypicFeature	Seborrhoeic blepharitis	Inflamation of the eyelid due to overactivity of the sebaceous gland.		hp.json		http://purl.obolibrary.org/obo/HP_0500046							
HP:0500047	biolink:PhenotypicFeature	Nasolacrimal sac lymphoma	A type of lymphoma that involves the nasolacrimal sac.		hp.json		http://purl.obolibrary.org/obo/HP_0500047							
HP:0500048	biolink:PhenotypicFeature	Delayed canalization of nasolacrimal duct	A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.		hp.json		http://purl.obolibrary.org/obo/HP_0500048							
HP:0500049	biolink:PhenotypicFeature	Retinopathy of prematurity	An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.		hp.json		http://purl.obolibrary.org/obo/HP_0500049							
HP:0500050	biolink:PhenotypicFeature	Retinopathy of prematurity stage 1	The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.		hp.json	ROP stage 1	http://purl.obolibrary.org/obo/HP_0500050							
HP:0500051	biolink:PhenotypicFeature	Retinopathy of prematurity stage 2	The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.		hp.json	ROP stage 2	http://purl.obolibrary.org/obo/HP_0500051							
HP:0500052	biolink:PhenotypicFeature	Retinopathy of prematurity stage 3	The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.		hp.json	ROP stage 3	http://purl.obolibrary.org/obo/HP_0500052							
HP:0500053	biolink:PhenotypicFeature	Retinopathy of prematurity stage 4	Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.		hp.json	ROP stage 4	http://purl.obolibrary.org/obo/HP_0500053							
HP:0500054	biolink:PhenotypicFeature	Retinopathy of prematurity stage 4a	A detachment that involves the peripheral retina that does not extend into the macula.		hp.json	ROP stage 4a	http://purl.obolibrary.org/obo/HP_0500054							
HP:0500055	biolink:PhenotypicFeature	Retinopathy of prematurity stage 4b	A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.		hp.json	ROP 4b	http://purl.obolibrary.org/obo/HP_0500055							
HP:0500056	biolink:PhenotypicFeature	Retinopathy of prematurity stage 5	Funnel detachment from the retina with generally traction in all four quadrants.		hp.json	ROP stage 5	http://purl.obolibrary.org/obo/HP_0500056							
HP:0500057	biolink:PhenotypicFeature	Retinopathy of prematurity stage 5a	An open funnel detachment of the retina with generally traction in all four quadrants.		hp.json	ROP stage 5a	http://purl.obolibrary.org/obo/HP_0500057							
HP:0500058	biolink:PhenotypicFeature	Retinopathy of prematurity stage 5b	A closed funnel detachment of the retina with generally traction in all four quadrants.		hp.json	ROP stage 5b	http://purl.obolibrary.org/obo/HP_0500058							
HP:0500059	biolink:PhenotypicFeature	Retinopathy of prematurity zone I	Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.		hp.json	ROP zone 1	http://purl.obolibrary.org/obo/HP_0500059							
HP:0500060	biolink:PhenotypicFeature	Retinopathy of prematurity zone II	Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.		hp.json	ROP zone II	http://purl.obolibrary.org/obo/HP_0500060							
HP:0500061	biolink:PhenotypicFeature	Retinopathy of prematurity zone III	Retinopathy which is a residual crescent of retina anterior to zone II.		hp.json	ROP zone III	http://purl.obolibrary.org/obo/HP_0500061							
HP:0500062	biolink:PhenotypicFeature	Retinopathy of prematurity plus	Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.		hp.json	ROP plus	http://purl.obolibrary.org/obo/HP_0500062							
HP:0500063	biolink:PhenotypicFeature	Retinopathy of prematurity pre-plus	As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.		hp.json	ROP pre-plus	http://purl.obolibrary.org/obo/HP_0500063							
HP:0500064	biolink:PhenotypicFeature	Retinopathy of prematurity threshold	A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.		hp.json	ROP threshold	http://purl.obolibrary.org/obo/HP_0500064							
HP:0500065	biolink:PhenotypicFeature	Retinopathy of prematurity prethreshold	High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.		hp.json	ROP prethreshold	http://purl.obolibrary.org/obo/HP_0500065							
HP:0500066	biolink:PhenotypicFeature	Latent myopia	The difference between total and manifest myopia.		hp.json		http://purl.obolibrary.org/obo/HP_0500066							
HP:0500069	biolink:PhenotypicFeature	Paralytic ectropion	A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.		hp.json		http://purl.obolibrary.org/obo/HP_0500069							
HP:0500070	biolink:PhenotypicFeature	Conjunctival dermolipoma	A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.		hp.json		http://purl.obolibrary.org/obo/HP_0500070							
HP:0500072	biolink:PhenotypicFeature	Absolute eccentric fixation	Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.		hp.json		http://purl.obolibrary.org/obo/HP_0500072							
HP:0500073	biolink:PhenotypicFeature	Abnormal ocular alignment	Any deviation from the normal ocular alignment.		hp.json		http://purl.obolibrary.org/obo/HP_0500073							
HP:0500074	biolink:PhenotypicFeature	Dissociated vertical deviation	An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.		hp.json		http://purl.obolibrary.org/obo/HP_0500074							
HP:0500075	biolink:PhenotypicFeature	Dissociated horizontal deviation	A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.		hp.json		http://purl.obolibrary.org/obo/HP_0500075							
HP:0500076	biolink:PhenotypicFeature	Alternating hypertropia	A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.		hp.json		http://purl.obolibrary.org/obo/HP_0500076							
HP:0500077	biolink:PhenotypicFeature	Alternating hyperphoria	A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.		hp.json		http://purl.obolibrary.org/obo/HP_0500077							
HP:0500078	biolink:PhenotypicFeature	Alternating hypotropia	A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.		hp.json		http://purl.obolibrary.org/obo/HP_0500078							
HP:0500079	biolink:PhenotypicFeature	Alternating hypophoria	A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.		hp.json		http://purl.obolibrary.org/obo/HP_0500079							
HP:0500081	biolink:PhenotypicFeature	Pseudophakia	The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).		hp.json		http://purl.obolibrary.org/obo/HP_0500081							
HP:0500086	biolink:PhenotypicFeature	Optic nerve gray crescent	Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.		hp.json	Optic nerve grey crescent|Temporal grey pigmentary crescent|Temporal gray pigmentary crescent	http://purl.obolibrary.org/obo/HP_0500086							
HP:0500087	biolink:PhenotypicFeature	Peripapillary atrophy	Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.		hp.json		http://purl.obolibrary.org/obo/HP_0500087							
HP:0500088	biolink:PhenotypicFeature	Foveal depigmentation	Loss of pigment in the fovea centralis.		hp.json		http://purl.obolibrary.org/obo/HP_0500088							
HP:0500089	biolink:PhenotypicFeature	Optic nerve sheath meningioma	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.json		http://purl.obolibrary.org/obo/HP_0500089							
HP:0500090	biolink:PhenotypicFeature	Periocular capillary hemangioma	A capillary hemangioma surrounding the eyeball but within the orbit.		hp.json	Peri-ocular capillary hemangioma	http://purl.obolibrary.org/obo/HP_0500090							
HP:0500091	biolink:PhenotypicFeature	Lymphangioma of the orbit	A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.		hp.json		http://purl.obolibrary.org/obo/HP_0500091							
HP:0500092	biolink:PhenotypicFeature	Orbital rhabdomyosarcoma	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.json		http://purl.obolibrary.org/obo/HP_0500092							
HP:0500093	biolink:PhenotypicFeature	Food allergy	Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.		hp.json	Food allergy|IgE-mediated food allergy|Immunoglobulin E-mediated food allergy	http://purl.obolibrary.org/obo/HP_0500093							
HP:0500094	biolink:PhenotypicFeature	Latex allergy	Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.		hp.json		http://purl.obolibrary.org/obo/HP_0500094							
HP:0500095	biolink:PhenotypicFeature	Food-induced anaphylaxis	Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.		hp.json		http://purl.obolibrary.org/obo/HP_0500095							
HP:0500096	biolink:PhenotypicFeature	Venom-induced anaphylaxis	A form of anaphylaxis that is triggered by exposure to venom.		hp.json		http://purl.obolibrary.org/obo/HP_0500096							
HP:0500097	biolink:PhenotypicFeature	Stool xenobiotic	Presence of xenobiotic in stool.		hp.json		http://purl.obolibrary.org/obo/HP_0500097							
HP:0500098	biolink:PhenotypicFeature	Meconium xenobiotic	Presence of a xenobiotic in meconium.		hp.json		http://purl.obolibrary.org/obo/HP_0500098							
HP:0500099	biolink:PhenotypicFeature	Hair xenobiotic	Presence of xenobiotic in hair.		hp.json		http://purl.obolibrary.org/obo/HP_0500099							
HP:0500100	biolink:PhenotypicFeature	Plasma/serum xenobiotic	Presence of a xenobiotic in plasma and/or serum.		hp.json		http://purl.obolibrary.org/obo/HP_0500100							
HP:0500101	biolink:PhenotypicFeature	Gastric fluid xenobiotic	Presence of a xenobiotic in gastric fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0500101							
HP:0500104	biolink:PhenotypicFeature	Decreased diastolic blood pressure	Abnormal decrease in diastolic blood pressure.		hp.json	Decreased diastolic BP|Reduced diastolic blood pressure	http://purl.obolibrary.org/obo/HP_0500104							
HP:0500105	biolink:PhenotypicFeature	Decreased systolic blood pressure	Abnormal decrease in systolic blood pressure.		hp.json	Decreased systolic BP|Reduced systolic blood pressure	http://purl.obolibrary.org/obo/HP_0500105							
HP:0500106	biolink:PhenotypicFeature	Isolated systolic hypertension	Elevated systolic blood pressure without an elevated blood pressure.		hp.json		http://purl.obolibrary.org/obo/HP_0500106							
HP:0500107	biolink:PhenotypicFeature	Isolated diastolic hypotension	A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).		hp.json		http://purl.obolibrary.org/obo/HP_0500107							
HP:0500108	biolink:PhenotypicFeature	Positive urine cocaine test	Detection of cocaine or its major metabolite, benzoylecgonine, in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0500108							
HP:0500109	biolink:PhenotypicFeature	Positive urine barbiturate test	Detection of barbiturate metabolites such as Phenobarbital in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0500109							
HP:0500110	biolink:PhenotypicFeature	Positive urine cannabinoid test	Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.		hp.json	Positive urine marijuana test|Postive urine pot test	http://purl.obolibrary.org/obo/HP_0500110							
HP:0500111	biolink:PhenotypicFeature	Positive urine benzodiazepines test	Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0500111							
HP:0500112	biolink:PhenotypicFeature	Positive urine amphetamine test	Detection of amphetamine or its metabolites in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0500112							
HP:0500113	biolink:PhenotypicFeature	Positive urine opioid test	Detection of opioids or opioid metabolites in urine.		hp.json		http://purl.obolibrary.org/obo/HP_0500113							
HP:0500114	biolink:PhenotypicFeature	Abnormal stool urobilinogen concentration	Abnormal concentration of urobilinogen present in the stool.		hp.json		http://purl.obolibrary.org/obo/HP_0500114							
HP:0500115	biolink:PhenotypicFeature	Increased stool urobilinogen concentration	An increased amount of urobilinogen present in the stool.		hp.json		http://purl.obolibrary.org/obo/HP_0500115							
HP:0500116	biolink:PhenotypicFeature	Positive blood barbiturate test	Detection of barbiturate metabolites such as Phenobarbital in blood.		hp.json		http://purl.obolibrary.org/obo/HP_0500116							
HP:0500117	biolink:PhenotypicFeature	Abnormal CSF urate concentration	Abnormal concentration of urate in the cerebrospinal fluid (CSF).		hp.json		http://purl.obolibrary.org/obo/HP_0500117							
HP:0500132	biolink:PhenotypicFeature	Hypovalinemia	A decreased amount of valine in the blood.		hp.json	Low blood valine concentration	http://purl.obolibrary.org/obo/HP_0500132							
HP:0500133	biolink:PhenotypicFeature	Hypotyrosinemia	An decreased concentration of tyrosine in the blood.		hp.json	Decreased tyrosine in blood|Low blood tyrosine concentration	http://purl.obolibrary.org/obo/HP_0500133							
HP:0500134	biolink:PhenotypicFeature	Hypertryptophanemia	An increased amount of tryptophan in the blood.		hp.json	High blood tryptophan concentration|Increased tryptophan in blood	http://purl.obolibrary.org/obo/HP_0500134							
HP:0500135	biolink:PhenotypicFeature	Hypotryptophanemia	A decreased amount of tryptophan in the blood.		hp.json	Decreased tryptophan in blood|Low blood tryptophan concentration	http://purl.obolibrary.org/obo/HP_0500135							
HP:0500136	biolink:PhenotypicFeature	Hypothreoninemia	A decreased amount of threonine in the blood.		hp.json	Decreased threonine blood levels|Low blood threonine concentration|Decreased circulating threonine levels	http://purl.obolibrary.org/obo/HP_0500136							
HP:0500138	biolink:PhenotypicFeature	Hyperserinemia	An increased amount of serine in the blood.		hp.json	High blood serine levels|Increased serine blood concentration|Elevated circulating serine levels	http://purl.obolibrary.org/obo/HP_0500138							
HP:0500139	biolink:PhenotypicFeature	Hypoprolinemia	A decreased amount of proline in the blood.		hp.json	Decreased blood proline levels|Low blood proline concentration	http://purl.obolibrary.org/obo/HP_0500139							
HP:0500140	biolink:PhenotypicFeature	Decreased circulating hydroxyproline concentration	A decreased amount of hydroxyproline in the blood.		hp.json	Decreased hydroxyproline in the blood|Low level of hydroxyproline in the blood	http://purl.obolibrary.org/obo/HP_0500140							
HP:0500141	biolink:PhenotypicFeature	Hypophenylalaninemia	A decreased amount of phenylalanine in the blood.		hp.json	Decreased blood phenylalanine|Low blood phenylalanine	http://purl.obolibrary.org/obo/HP_0500141							
HP:0500142	biolink:PhenotypicFeature	Hypolysinemia	A decreased amount of lysine in the blood.		hp.json	Decreased blood lysine|Low blood lysine levels	http://purl.obolibrary.org/obo/HP_0500142							
HP:0500143	biolink:PhenotypicFeature	Hypoleucinemia	Decreased amount of leucine in the blood.		hp.json	Decreased blood concentration of leucine|Low blood leucine levels	http://purl.obolibrary.org/obo/HP_0500143							
HP:0500144	biolink:PhenotypicFeature	Hypoisoleucinemia	A decreased amount of isoleucine in the blood.		hp.json	Decreased blood isoleucine concentration|Low blood isoleucine levels	http://purl.obolibrary.org/obo/HP_0500144							
HP:0500145	biolink:PhenotypicFeature	Hypohistidinemia	A decreased amount of histidine in the blood.		hp.json	Decreased blood histidine concentration|Low blood histidine levels	http://purl.obolibrary.org/obo/HP_0500145							
HP:0500147	biolink:PhenotypicFeature	Hypoglutaminemia	Decreased amount of glutamine in the blood.		hp.json	Decreased blood glutamine concentration|Low blood glutamine level	http://purl.obolibrary.org/obo/HP_0500147							
HP:0500148	biolink:PhenotypicFeature	Abnormal circulating glutamate concentration	Any deviation from the normal concentration of glutamate in the blood circulation.		hp.json	Abnormality of glutamate metabolism	http://purl.obolibrary.org/obo/HP_0500148							
HP:0500149	biolink:PhenotypicFeature	Hyperglutamatemia	An increased amount of glutamate in the blood.		hp.json	High blood glutamate levels|Increased blood glutamate concentration	http://purl.obolibrary.org/obo/HP_0500149							
HP:0500150	biolink:PhenotypicFeature	Hypoglutamatemia	A decreased amount of glutamate in the blood.		hp.json	Decreased blood glutamate concentrations|Low blood glutamate levels	http://purl.obolibrary.org/obo/HP_0500150							
HP:0500151	biolink:PhenotypicFeature	Hypercystinemia	An increased amount of cystine in the blood.		hp.json	High blood cystine levels|Increased blood cystine concentraions	http://purl.obolibrary.org/obo/HP_0500151							
HP:0500152	biolink:PhenotypicFeature	Hypocystinemia	A decreased amount of cystine in the blood.		hp.json	Decreased blood cystine concentration|Low blood cystine levels	http://purl.obolibrary.org/obo/HP_0500152							
HP:0500153	biolink:PhenotypicFeature	Hyperargininemia	An increased amount of arginine levels in the blood.		hp.json	High blood arginine levels|Increased blood arginine concentration	http://purl.obolibrary.org/obo/HP_0500153							
HP:0500154	biolink:PhenotypicFeature	Hypoalaninemia	A decreased amount of alanine in the blood.		hp.json	Decreased blood alanine concentration|Low blood alanine levels	http://purl.obolibrary.org/obo/HP_0500154							
HP:0500155	biolink:PhenotypicFeature	Abnormal circulating asparagine concentration	Any deviation from the normal concentration of asparagine in the blood circulation.		hp.json	Abnormality of asparagine metabolism	http://purl.obolibrary.org/obo/HP_0500155							
HP:0500156	biolink:PhenotypicFeature	Hyperasparaginemia	An increased amount of asparagine in the blood.		hp.json	High blood asaparagine levels|Increased blood asparagine concentration	http://purl.obolibrary.org/obo/HP_0500156							
HP:0500157	biolink:PhenotypicFeature	Hypoasparaginemia	A decreased amount of asparagine in the blood.		hp.json	Decreased blood asparagine concentration|Low blood asparagine levels	http://purl.obolibrary.org/obo/HP_0500157							
HP:0500158	biolink:PhenotypicFeature	Abnormal circulating aspartic acid concentration	Any deviation from the normal concentration of aspartate in the blood circulation.		hp.json	Abnormal circulating aspartate concentration	http://purl.obolibrary.org/obo/HP_0500158							
HP:0500159	biolink:PhenotypicFeature	Increased level of circulating aspartic acid	An increased amount of aspartic acid in the blood.		hp.json	High blood aspartic acid levels|Increased blood aspartic acid	http://purl.obolibrary.org/obo/HP_0500159							
HP:0500160	biolink:PhenotypicFeature	Abnormal circulating carnosine concentration	Any deviation from the normal concentration of carnosine in the blood circulation.		hp.json	Abnormality of carnosine metabolism	http://purl.obolibrary.org/obo/HP_0500160							
HP:0500161	biolink:PhenotypicFeature	Increased level of carnosine in blood	An increased amount of carnosine in the blood.		hp.json	High blood carnosine levels|Increased blood carnosine concenrtation	http://purl.obolibrary.org/obo/HP_0500161							
HP:0500162	biolink:PhenotypicFeature	Decreased level of carnosine in blood	A decreased amount of carnosine in bood.		hp.json	Decreased blood carnosine concentration|Low blood carnosine levels	http://purl.obolibrary.org/obo/HP_0500162							
HP:0500163	biolink:PhenotypicFeature	Hypoornithinemia	An abnormal decrease in ornithine in the blood.		hp.json	Decreased blood ornithine concentrations|Low blood ornithine levels	http://purl.obolibrary.org/obo/HP_0500163							
HP:0500164	biolink:PhenotypicFeature	Abnormal blood carbon dioxide level	An abnormality of carbon dioxide (CO2) in the arterial blood.		hp.json	Abnormal CO2 levels in blood|Abnormal blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0500164							
HP:0500165	biolink:PhenotypicFeature	Abnormal blood oxygen level	An abnormality of the partial pressure of oxygen in the arterial blood.		hp.json	Abnormal blood O2 level|Abnormal blood oxygen levels|Abnromal O2 blood concentration	http://purl.obolibrary.org/obo/HP_0500165							
HP:0500166	biolink:PhenotypicFeature	Abnormal circulating gastrin concentration	An abnormal concentration of gastrin in the blood.		hp.json	Abnormal circulating gastrin level	http://purl.obolibrary.org/obo/HP_0500166							
HP:0500167	biolink:PhenotypicFeature	Hypergastrinemia	An elevated amount of gastrin in the blood.		hp.json	Elevated gastrin in the blood|Increased blood gastrin	http://purl.obolibrary.org/obo/HP_0500167							
HP:0500170	biolink:PhenotypicFeature	Abnormal concentration of acylcarnitine in the urine	An abnormal amount of acylcarnitine in the urine.		hp.json		http://purl.obolibrary.org/obo/HP_0500170							
HP:0500173	biolink:PhenotypicFeature	Reflex asystolic syncope	A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.		hp.json	Reflex anoxic seizure|Reflex anoxic seizures	http://purl.obolibrary.org/obo/HP_0500173							
HP:0500180	biolink:PhenotypicFeature	Abnormal circulating amino sulfonic acid concentration			hp.json		http://purl.obolibrary.org/obo/HP_0500180							
HP:0500181	biolink:PhenotypicFeature	Hypertaurinemia	An increased amount of taurine in the blood.		hp.json	Elevated serum taurine levels|Increased circulating taurine levels in the blood	http://purl.obolibrary.org/obo/HP_0500181							
HP:0500182	biolink:PhenotypicFeature	Hypotaurinemia	A decreased amount of taurine in the blood.		hp.json	Decreased circulating taurine levels|Lower blood levels of taurine|Reduced taurine levels in the blood	http://purl.obolibrary.org/obo/HP_0500182							
HP:0500183	biolink:PhenotypicFeature	Abnormal CSF carboxylic acid concentration	Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.		hp.json		http://purl.obolibrary.org/obo/HP_0500183							
HP:0500184	biolink:PhenotypicFeature	Abnormal CSF amino acid concentration	Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.		hp.json	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							
HP:0500185	biolink:PhenotypicFeature	Abnormal CSF branched chain amino acid concentration	Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.		hp.json	Abnormal branched-chain amino acid levels in cerbrospinal fluid	http://purl.obolibrary.org/obo/HP_0500185							
HP:0500186	biolink:PhenotypicFeature	Abnormal CSF valine concentration	Any deviation from the normal concentration of valine in the cerebrospinal fluid.		hp.json	Abnormal valine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500186							
HP:0500187	biolink:PhenotypicFeature	Increased CSF valine concentration	Any increased amount from normal of valine in the cerebrospinal fluid.		hp.json	High valine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500187							
HP:0500188	biolink:PhenotypicFeature	Decreased CSF valine concentration	Any decreased amount from normal of valine in the cerebrospinal fluid.		hp.json	Low valine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500188							
HP:0500189	biolink:PhenotypicFeature	Abnormal CSF leucine concentration	Any deviation from the normal concentration of leucine in the cerebrospinal fluid.		hp.json	Abnormal leucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500189							
HP:0500190	biolink:PhenotypicFeature	Decreased CSF leucine concentration	Abnormally decreased levels of leucine in the cerebrospinal fluid.		hp.json	Low leucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500190							
HP:0500191	biolink:PhenotypicFeature	Increased CSF leucine concentration	Abnormally increased levels of leucine in cerebrospinal fluid.		hp.json	High leucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500191							
HP:0500192	biolink:PhenotypicFeature	Abnormal CSF isoleucine concentration	Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.		hp.json	Abnormal isoleucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500192							
HP:0500193	biolink:PhenotypicFeature	Increased CSF isoleucine concentration	Abnormally increased levels of isoleucine in cerebrospinal fluid.		hp.json	High levels of isoleucine in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500193							
HP:0500194	biolink:PhenotypicFeature	Decreased CSF isoleucine concentration	Abnormally decreased levels of isoleucine in cerebrospinal fluid.		hp.json	Low levels of isoleucine in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500194							
HP:0500195	biolink:PhenotypicFeature	Abnormal CSF glutamine family amino acid concentration	Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.		hp.json	Abnormal glutamine family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500195							
HP:0500196	biolink:PhenotypicFeature	Abnormal CSF glutamine concentration	Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.		hp.json	Abnormal glutamine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500196							
HP:0500197	biolink:PhenotypicFeature	Increased CSF glutamine concentration	Abnormally increased levels of glutamine in cerebrospinal fluid.		hp.json	High glutamine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500197							
HP:0500198	biolink:PhenotypicFeature	Decreased CSF glutamine concentration	Abnormally decreased levels of glutamine in cerebrospinal fluid.		hp.json	Low glutamine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500198							
HP:0500199	biolink:PhenotypicFeature	Abnormal CSF glutamate concentration	Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.		hp.json	Abnormal glutamic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500199							
HP:0500200	biolink:PhenotypicFeature	Increased CSF glutamate concentration	Abnormally increased levels of glutamic acid in cerebrospinal fluid.		hp.json	High glutamic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500200							
HP:0500201	biolink:PhenotypicFeature	Decreased CSF glutamate concentration	Abnormally decreased levels of glutamic acid in cerebrospinal fluid.		hp.json	Low glutamic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500201							
HP:0500202	biolink:PhenotypicFeature	Abnormal CSF arginine concentration	Any deviation from the normal concentration of arginine in the cerebrospinal fluid.		hp.json	Abnormal arginine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500202							
HP:0500203	biolink:PhenotypicFeature	Increased CSF arginine concentration	Abnormally increased levels of arginine in cerebrospinal fluid.		hp.json	High arginine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500203							
HP:0500204	biolink:PhenotypicFeature	Decreased CSF arginine concentration	Abnormally decreased levels of arginine in cerebrospinal fluid.		hp.json	Low arginine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500204							
HP:0500205	biolink:PhenotypicFeature	Abnormal CSF aspartate family amino acid concentration	Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.		hp.json	Abnormal aspartate-family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500205							
HP:0500206	biolink:PhenotypicFeature	Abnormal CSF lysine concentration	Any deviation from the normal concentration of lysine in the cerebrospinal fluid.		hp.json	Abnormal lysine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500206							
HP:0500207	biolink:PhenotypicFeature	Decreased CSF lysine concentration	Abnormally decreased levels of lysine in cerebrospinal fluid.		hp.json	Low lysine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500207							
HP:0500208	biolink:PhenotypicFeature	Increased CSF lysine concentration	Abnormally increased levels of lysine in cerebrospinal fluid.		hp.json	High lysine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500208							
HP:0500209	biolink:PhenotypicFeature	Abnormal CSF methionine concentration	Any deviation from the normal concentration of methionine in the cerebrospinal fluid.		hp.json	Abnormal methionine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500209							
HP:0500210	biolink:PhenotypicFeature	Increased CSF methionine concentration	Abnormally increased levels of methionine in cerebrospinal fluid.		hp.json	High methionine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500210							
HP:0500211	biolink:PhenotypicFeature	Abnormal CSF threonine concentration	Any deviation from the normal concentration of threonine in the cerebrospinal fluid.		hp.json	Abnormal threonine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500211							
HP:0500212	biolink:PhenotypicFeature	Increased CSF threonine concentration	Abnormally increased levels of threonine in cerebrospinal fluid.		hp.json	High threonine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500212							
HP:0500213	biolink:PhenotypicFeature	Decreased CSF threonine concentration	Abnormally decreased levels of threonine in cerebrospinal fluid.		hp.json	Low threonine levels in the cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500213							
HP:0500214	biolink:PhenotypicFeature	Abnormal CSF aromatic amino acid concentration	Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.		hp.json	Abnormal aromatic amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500214							
HP:0500215	biolink:PhenotypicFeature	Abnormal CSF phenylalanine concentration	Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.		hp.json	Abnormal phenylalanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500215							
HP:0500216	biolink:PhenotypicFeature	Abnormal CSF aspartate concentration	Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.		hp.json	Abnormal CSF aspartic acid concentration|Abnormal aspartic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500216							
HP:0500217	biolink:PhenotypicFeature	Increased CSF aspartate concentration	Abnormally increased levels of aspartic acid in cerebrospinal fluid.		hp.json	High aspartic acid levels in cerebrospinal fluid|Increased CSF aspartic acid concentration	http://purl.obolibrary.org/obo/HP_0500217							
HP:0500218	biolink:PhenotypicFeature	Abnormal CSF tryptophan concentration	Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.		hp.json	Abnormal tryptophan levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500218							
HP:0500219	biolink:PhenotypicFeature	Abnormal CSF tyrosine concentration	Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.		hp.json	Abnormal tyrosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500219							
HP:0500220	biolink:PhenotypicFeature	Increased CSF tyrosine concentration	Abnormally increased levels of tyrosine in cerebrospinal fluid.		hp.json	High tyrosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500220							
HP:0500221	biolink:PhenotypicFeature	Decreased CSF tyrosine concentration	Abnormally decreased levels of tyrosine in cerebrospinal fluid.		hp.json	Low tyrosine levels in the cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500221							
HP:0500222	biolink:PhenotypicFeature	Increased CSF tryptophan concentration	Abnormally increased levels of tryptophan in cerebrospinal fluid.		hp.json	High tryptophan levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500222							
HP:0500223	biolink:PhenotypicFeature	Increased CSF phenylalanine concentration	Abnormally increased levels of phenylalanine in cerebrospinal fluid.		hp.json	High phenylalanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500223							
HP:0500224	biolink:PhenotypicFeature	Decreased CSF phenylalanine concentration	Abnormally decreased levels of phenylalanine in cerebrospinal fluid.		hp.json	Low phenylalanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500224							
HP:0500225	biolink:PhenotypicFeature	Abnormal CSF serine family amino acid concentration	Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.		hp.json	Abnormal serine-family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500225							
HP:0500226	biolink:PhenotypicFeature	Abnormal CSF serine concentration	Any deviation from the normal concentration of serine in the cerebrospinal fluid.		hp.json	Abnormal serine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500226							
HP:0500227	biolink:PhenotypicFeature	Increased CSF serine concentration	Abnormally increased levels of serine in cerebrospinal fluid.		hp.json	High serine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500227							
HP:0500228	biolink:PhenotypicFeature	Decreased CSF serine concentration	Abnormally decreased levels of serine in cerebrospinal fluid.		hp.json	Low serine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500228							
HP:0500229	biolink:PhenotypicFeature	Abnormal CSF glycine concentration	Any deviation from the normal concentration of glycine in the cerebrospinal fluid.		hp.json	Abnormal glycine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500229							
HP:0500230	biolink:PhenotypicFeature	Increased CSF glycine concentration	Abnormally increased levels of glycine in cerebrospinal fluid.		hp.json	High glycine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500230							
HP:0500231	biolink:PhenotypicFeature	Abnormal CSF pyruvate family amino acid concentration	Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.		hp.json	Abnormal pyruvate-family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500231							
HP:0500232	biolink:PhenotypicFeature	Abnormal CSF alanine concentration	Any deviation from the normal concentration of alanine in the cerebrospinal fluid.		hp.json	Abnormal alanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500232							
HP:0500233	biolink:PhenotypicFeature	Increased CSF alanine concentration	Abnormally increased levels of alanine in cerebrospinal fluid.		hp.json	High alanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500233							
HP:0500234	biolink:PhenotypicFeature	Decreased CSF alanine concentration	Abnormally decreased levels of alanine in cerebrospinal fluid.		hp.json	Low alanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500234							
HP:0500235	biolink:PhenotypicFeature	Abnormal CSF histidine concentration	Any deviation from the normal concentration of histidine in the cerebrospinal fluid.		hp.json	Abnormal histidine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500235							
HP:0500236	biolink:PhenotypicFeature	Increased CSF histidine concentration	Abnormally increased levels of histidine in cerebrospinal fluid.		hp.json	High histidine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500236							
HP:0500237	biolink:PhenotypicFeature	Decreased CSF histidine concentration	Abnormally decreased levels of histidine in cerebrospinal fluid.		hp.json	Low histidine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500237							
HP:0500238	biolink:PhenotypicFeature	Abnormal CSF albumin concentration	Any deviation from the normal concentration of albumin in the cerebrospinal fluid.		hp.json	Abnormal albumin levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500238							
HP:0500239	biolink:PhenotypicFeature	Increased CSF albumin concentration			hp.json	High albumin levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500239							
HP:0500240	biolink:PhenotypicFeature	Abnormal CSF carnosine concentration	Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.		hp.json	Abnormal carnosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500240							
HP:0500241	biolink:PhenotypicFeature	Abnormal CSF homocarnosine concentration	Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.		hp.json	Abnormal homocarnosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500241							
HP:0500242	biolink:PhenotypicFeature	Increased CSF homocarnosine concentration	Abnormally increased levels of homocarnosine in cerebrospinal fluid.		hp.json	High homocarnosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500242							
HP:0500243	biolink:PhenotypicFeature	Abnormal CSF ornithine concentration	Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.		hp.json	Abnormal ornithine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500243							
HP:0500244	biolink:PhenotypicFeature	Increased CSF ornithine concentration	Abnormally increased levels of ornithine in cerebrospinal fluid.		hp.json	High ornithine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500244							
HP:0500245	biolink:PhenotypicFeature	Abnormal CSF citrulline concentration	Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.		hp.json	Abnormal citrulline levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500245							
HP:0500246	biolink:PhenotypicFeature	Increased CSF citrulline concentration	Abnormally increased levels of citrulline in cerebrospinal fluid.		hp.json	High citrulline levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500246							
HP:0500247	biolink:PhenotypicFeature	Abnormal CSF alpha-aminobutyrate concentration	Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.		hp.json	Abnormal alpha-aminobutyrate levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500247							
HP:0500248	biolink:PhenotypicFeature	Increased CSF alpha-aminobutyrate concentration	Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.		hp.json	High alpha-aminobutyrate levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500248							
HP:0500249	biolink:PhenotypicFeature	Abnormal circulating ethanolamine concentration	Any deviation from the normal concentration of ethanolamine in circulation.		hp.json	Abnormal ethanolamine levels in the blood	http://purl.obolibrary.org/obo/HP_0500249							
HP:0500250	biolink:PhenotypicFeature	Increased circulating ethanolamine concentration	Abnormally increased levels of ethanolamine in circulation.		hp.json	High ethanolamine levels in the blood	http://purl.obolibrary.org/obo/HP_0500250							
HP:0500251	biolink:PhenotypicFeature	Abnormal urine sebacic acid concentration	Abnormal concentration of sebacic acid in the urine.		hp.json	Abnormal urine decanedioic acid concentration	http://purl.obolibrary.org/obo/HP_0500251							
HP:0500252	biolink:PhenotypicFeature	Increased urine sebacic acid concentration	Elevated concentration of sebacic acid in the urine.		hp.json	Increased urine decanedioic acid concentration	http://purl.obolibrary.org/obo/HP_0500252							
HP:0500253	biolink:PhenotypicFeature	Increased level of gamma-aminobutyric acid in urine	Elevated concentration of gamma-aminobutyric acid in the urine.		hp.json	Increased urinary excretion of gamma-aminobutyric acid (GABA)	http://purl.obolibrary.org/obo/HP_0500253							
HP:0500254	biolink:PhenotypicFeature	Abnormal urine hexanoylglycine concentration	Abnormal concentration of hexanoylglycine in the urine.		hp.json	Abnormal urinary N-hexanoylglycine levels	http://purl.obolibrary.org/obo/HP_0500254							
HP:0500255	biolink:PhenotypicFeature	Increased level of hexanoylglycine in urine	Elevated concentration of hexanoylglycine in the urine.		hp.json	Elevated urinary N-hexanoylglycine concentration	http://purl.obolibrary.org/obo/HP_0500255							
HP:0500256	biolink:PhenotypicFeature	Abnormal urine isobutyrylglycine concentration	Abnormal concentration of isobutyrylglycine in the urine.		hp.json	Abnormal urinary isobutyrylglycine levels	http://purl.obolibrary.org/obo/HP_0500256							
HP:0500257	biolink:PhenotypicFeature	Increased urine isobutyrylglycine concentration	Elevated concentration of isobutyrylglycine in the urine.		hp.json	High urinary isobutyrylglycine levels	http://purl.obolibrary.org/obo/HP_0500257							
HP:0500258	biolink:PhenotypicFeature	Abnormal carbon dioxide level in cord blood	Abnormal amount of carbon dioxide in umbilical cord blood		hp.json	Abnormal CO2 level in cord blood|Abnormal umbilical cord blood levels of carbon dioxide	http://purl.obolibrary.org/obo/HP_0500258							
HP:0500259	biolink:PhenotypicFeature	Abnormal oxygen level in cord blood	An abnormal level of blood oxygen in the cord blood.		hp.json	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							
HP:0500260	biolink:PhenotypicFeature	Triggered by head trauma	Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.		hp.json	Head trauma triggered symptoms	http://purl.obolibrary.org/obo/HP_0500260							
HP:0500261	biolink:PhenotypicFeature	Triggered by anesthetics	Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.		hp.json	Anaesthetics trigger episodes|Anaesthetics triggered symptoms|Triggered by anaesthetics|Anesthetics trigger episodes|Anesthetics triggered symptoms	http://purl.obolibrary.org/obo/HP_0500261							
HP:0500262	biolink:PhenotypicFeature	Atrichia	The most dramatic and severe form of hair loss characterized by an absence of hair follicles.		hp.json		http://purl.obolibrary.org/obo/HP_0500262							
HP:0500263	biolink:PhenotypicFeature	Abnormal helper T cell proportion	Abnormal proportion of helper T cells relative to the total number of T cells.		hp.json	Abnormal proportion of circulating T-helper cells	http://purl.obolibrary.org/obo/HP_0500263							
HP:0500264	biolink:PhenotypicFeature	Increased helper T cell proportion	Increased proportion of helper T cells relative to the total number of T cells.		hp.json	Elevated helper T cell proportion|Increased proportion T-helper cells	http://purl.obolibrary.org/obo/HP_0500264							
HP:0500265	biolink:PhenotypicFeature	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.		hp.json	Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated	http://purl.obolibrary.org/obo/HP_0500265							
HP:0500266	biolink:PhenotypicFeature	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.		hp.json	Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated	http://purl.obolibrary.org/obo/HP_0500266							
HP:0500267	biolink:PhenotypicFeature	Abnormal proportion of CD4-positive helper T cells	An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.		hp.json		http://purl.obolibrary.org/obo/HP_0500267							
HP:0500269	biolink:PhenotypicFeature	Abnormal proportion of gamma-delta T cells	Abnormal proportion of gamma-delta T cells relative to the total number of T cells.		hp.json	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							
HP:0500270	biolink:PhenotypicFeature	Increased proportion of gamma-delta T cells	Increased proportion of gamma-delta T cells relative to the total number of T cells.		hp.json	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							
HP:0500271	biolink:PhenotypicFeature	Decreased proportion of gamma-delta T cells	Decreased proportion of gamma-delta T cells relative to the total number of T cells.		hp.json	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							
HP:0500272	biolink:PhenotypicFeature	Abnormal proportion of immature gamma-delta T cells	Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.		hp.json	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							
HP:0500273	biolink:PhenotypicFeature	Increased proportion of immature gamma-delta T cells	Increased proportion of immature gamma-delta T cells relative to the total number of T cells.		hp.json	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							
HP:0500274	biolink:PhenotypicFeature	Decreased proportion of immature gamma-delta T cells	Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.		hp.json	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							
HP:0550003	biolink:PhenotypicFeature	Proximal scleroderma	Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.		hp.json		http://purl.obolibrary.org/obo/HP_0550003							
HP:0550004	biolink:PhenotypicFeature	Verruca plana	Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.		hp.json	Flat wart	http://purl.obolibrary.org/obo/HP_0550004							
HP:0550005	biolink:PhenotypicFeature	Bilateral basilar pulmonary fibrosis	It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.		hp.json	Lung disease with systemic sclerosis|Scleroderma lung disease|Scleroderma of lung	http://purl.obolibrary.org/obo/HP_0550005							
HP:3000001	biolink:PhenotypicFeature	obsolete Abnormal heart morphology			hp.json		http://purl.obolibrary.org/obo/HP_3000001							
HP:3000002	biolink:PhenotypicFeature	Abnormal inner ear epithelium morphology	Any structural anomaly of an inner ear epithelium.	UMLS:C4073211	hp.json		http://purl.obolibrary.org/obo/HP_3000002							
HP:3000003	biolink:PhenotypicFeature	Abnormal mandibular ramus morphology	An abnormality of a mandibular ramus.	UMLS:C4073212	hp.json	Abnormality of mandibular ramus	http://purl.obolibrary.org/obo/HP_3000003							
HP:3000004	biolink:PhenotypicFeature	Abnormality of frontalis muscle belly	An abnormality of a frontalis muscle belly.	UMLS:C4073213	hp.json		http://purl.obolibrary.org/obo/HP_3000004							
HP:3000005	biolink:PhenotypicFeature	Abnormality of masseter muscle	An abnormality of a masseter muscle.	UMLS:C4073214	hp.json		http://purl.obolibrary.org/obo/HP_3000005							
HP:3000006	biolink:PhenotypicFeature	Abnormality of medial pterygoid muscle	An abnormality of a medial pterygoid muscle.	UMLS:C4073215	hp.json		http://purl.obolibrary.org/obo/HP_3000006							
HP:3000007	biolink:PhenotypicFeature	Abnormality of mentalis muscle	An abnormality of a mentalis muscle.	UMLS:C4073216	hp.json		http://purl.obolibrary.org/obo/HP_3000007							
HP:3000008	biolink:PhenotypicFeature	Abnormality of mylohyoid muscle	An abnormality of a mylohyoid muscle.	UMLS:C4073217	hp.json		http://purl.obolibrary.org/obo/HP_3000008							
HP:3000009	biolink:PhenotypicFeature	Abnormality of nasalis muscle	An abnormality of a nasalis muscle.	UMLS:C4073218	hp.json		http://purl.obolibrary.org/obo/HP_3000009							
HP:3000010	biolink:PhenotypicFeature	Abnormality of orbicularis oris muscle	An abnormality of an orbicularis oris muscle.	UMLS:C4073219	hp.json		http://purl.obolibrary.org/obo/HP_3000010							
HP:3000011	biolink:PhenotypicFeature	Abnormality of palatoglossus muscle	An abnormality of a palatoglossus muscle.	UMLS:C4073220	hp.json		http://purl.obolibrary.org/obo/HP_3000011							
HP:3000012	biolink:PhenotypicFeature	Abnormality of palatopharyngeus muscle	An abnormality of a palatopharyngeus muscle.	UMLS:C4073221	hp.json		http://purl.obolibrary.org/obo/HP_3000012							
HP:3000013	biolink:PhenotypicFeature	Abnormality of platysma	An abnormality of the platysma muscle.	UMLS:C4073222	hp.json	Abnormality of the platysma muscle	http://purl.obolibrary.org/obo/HP_3000013							
HP:3000014	biolink:PhenotypicFeature	Abnormality of procerus muscle	An abnormality of a procerus.	UMLS:C4073223	hp.json		http://purl.obolibrary.org/obo/HP_3000014							
HP:3000015	biolink:PhenotypicFeature	Abnormality of risorius muscle	An abnormality of a risorius muscle.	UMLS:C4073224	hp.json		http://purl.obolibrary.org/obo/HP_3000015							
HP:3000016	biolink:PhenotypicFeature	Abnormality of styloglossus muscle	An abnormality of the styloglossus muscle.	UMLS:C4073225	hp.json		http://purl.obolibrary.org/obo/HP_3000016							
HP:3000017	biolink:PhenotypicFeature	Abnormality of temporalis muscle	An abnormality of a temporalis muscle.	UMLS:C4073226	hp.json		http://purl.obolibrary.org/obo/HP_3000017							
HP:3000018	biolink:PhenotypicFeature	Abnormality of zygomaticus major muscle	An abnormality of a zygomaticus major muscle.	UMLS:C4073227	hp.json		http://purl.obolibrary.org/obo/HP_3000018							
HP:3000019	biolink:PhenotypicFeature	Abnormality of buccal mucosa	An abnormality of a buccal mucosa.	UMLS:C4073228	hp.json	Abnormality of cheek mucosa|Abnormality of inside lining of cheek	http://purl.obolibrary.org/obo/HP_3000019							
HP:3000020	biolink:PhenotypicFeature	Abnormality of zygomaticus minor muscle	An abnormality of a zygomaticus minor muscle.	UMLS:C4073229	hp.json		http://purl.obolibrary.org/obo/HP_3000020							
HP:3000021	biolink:PhenotypicFeature	Abnormality of buccal fat pad	An abnormality of a buccal fat pad.	UMLS:C4073230	hp.json		http://purl.obolibrary.org/obo/HP_3000021							
HP:3000022	biolink:PhenotypicFeature	Abnormality of cartilage of external ear	An abnormality of a cartilage of external ear.	UMLS:C4073231	hp.json		http://purl.obolibrary.org/obo/HP_3000022							
HP:3000023	biolink:PhenotypicFeature	Abnormality of angular artery	An abnormality of the angular artery, the terminal branch of the facial artery.	UMLS:C4073232	hp.json		http://purl.obolibrary.org/obo/HP_3000023							
HP:3000024	biolink:PhenotypicFeature	Abnormal facial artery morphology	Any structural abnormality of a facial artery, one of the branches of the external carotid artery.	UMLS:C4073233	hp.json	Abnormality of facial artery	http://purl.obolibrary.org/obo/HP_3000024							
HP:3000025	biolink:PhenotypicFeature	Abnormality of ciliary ganglion	An abnormality of a ciliary ganglion.	UMLS:C4073234	hp.json		http://purl.obolibrary.org/obo/HP_3000025							
HP:3000026	biolink:PhenotypicFeature	obsolete Abnormality of common carotid artery plus branches			hp.json		http://purl.obolibrary.org/obo/HP_3000026							
HP:3000027	biolink:PhenotypicFeature	Abnormality of buccinator muscle	An abnormality of a buccinator muscle.	UMLS:C4073236	hp.json		http://purl.obolibrary.org/obo/HP_3000027							
HP:3000028	biolink:PhenotypicFeature	Abnormality of depressor anguli oris muscle	An abnormality of a depressor anguli oris muscle.	UMLS:C4073237	hp.json		http://purl.obolibrary.org/obo/HP_3000028							
HP:3000029	biolink:PhenotypicFeature	Abnormality of depressor labii inferioris	An abnormality of a depressor labii inferioris.	UMLS:C4073238	hp.json	Abnormality of depressor labii inferioris muscle	http://purl.obolibrary.org/obo/HP_3000029							
HP:3000030	biolink:PhenotypicFeature	Abnormality of bony orbit of skull	An abnormality of an orbit of skull.	UMLS:C4073239	hp.json	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							
HP:3000031	biolink:PhenotypicFeature	Abnormality of anterior ethmoidal artery	An abnormality of an anterior ethmoidal artery.	UMLS:C4073287	hp.json		http://purl.obolibrary.org/obo/HP_3000031							
HP:3000032	biolink:PhenotypicFeature	Abnormality of central retinal artery	An abnormality of a central retinal artery.	UMLS:C4073240	hp.json		http://purl.obolibrary.org/obo/HP_3000032							
HP:3000033	biolink:PhenotypicFeature	Abnormal nasopharyngeal adenoid morphology	Any abnormality of nasopharyngeal adenoids.	UMLS:C4073241	hp.json	Abnormality of adenoids|Abnormality of nasopharyngeal adenoids|Abnormality of nasopharyngeal tonsil|Abnormality of pharyngeal tonsil	http://purl.obolibrary.org/obo/HP_3000033							
HP:3000034	biolink:PhenotypicFeature	Abnormality nasal septum cartilage morphology	An abnormality of a cartilage of nasal septum.	UMLS:C4073242	hp.json	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							
HP:3000035	biolink:PhenotypicFeature	Abnormality of cervical plexus	Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.	UMLS:C4073243	hp.json		http://purl.obolibrary.org/obo/HP_3000035							
HP:3000036	biolink:PhenotypicFeature	Abnormality of head blood vessel	An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.	UMLS:C4073244	hp.json	Abnormality of blood vessel of head|Abnormality of head blood vessel|Abnormality of vasculature of head	http://purl.obolibrary.org/obo/HP_3000036							
HP:3000037	biolink:PhenotypicFeature	Abnormality of neck blood vessel	An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.	UMLS:C4073245	hp.json	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							
HP:3000038	biolink:PhenotypicFeature	Abnormal cricoid cartilage morphology	Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.	UMLS:C4073246	hp.json	Abnormality of cricoid cartilage	http://purl.obolibrary.org/obo/HP_3000038							
HP:3000039	biolink:PhenotypicFeature	Abnormality of dorsal nasal artery	An abnormality of a dorsal nasal artery.	UMLS:C4073247	hp.json		http://purl.obolibrary.org/obo/HP_3000039							
HP:3000040	biolink:PhenotypicFeature	Abnormality of ethmoid sinus	An abnormality of an ethmoid sinus.	UMLS:C4073248	hp.json	Abnormality of ethmoidal air cells	http://purl.obolibrary.org/obo/HP_3000040							
HP:3000041	biolink:PhenotypicFeature	Abnormality of external carotid artery	An abnormality of an external carotid artery.	UMLS:C4073249	hp.json	Abnormality of carotid artery|Disorder of carotid artery	http://purl.obolibrary.org/obo/HP_3000041							
HP:3000042	biolink:PhenotypicFeature	Abnormal jugular vein morphology	Any structural abnormality of a jugular vein.	UMLS:C4073250	hp.json	Abnormality of jugular vein	http://purl.obolibrary.org/obo/HP_3000042							
HP:3000043	biolink:PhenotypicFeature	Abnormal facial vein morphology	An abnormality of a facial vein.	UMLS:C4073251	hp.json	Abnormal vein of face|Abnormality of facial vein	http://purl.obolibrary.org/obo/HP_3000043							
HP:3000044	biolink:PhenotypicFeature	Abnormality of frontal process of maxilla	An abnormality of a frontal process of the maxilla bone.	UMLS:C4073252	hp.json		http://purl.obolibrary.org/obo/HP_3000044							
HP:3000045	biolink:PhenotypicFeature	Abnormality of genioglossus muscle	An abnormality of a genioglossus muscle.	UMLS:C4073253	hp.json		http://purl.obolibrary.org/obo/HP_3000045							
HP:3000046	biolink:PhenotypicFeature	Abnormality of geniohyoid muscle	An abnormality of a geniohyoid muscle.	UMLS:C4073254	hp.json		http://purl.obolibrary.org/obo/HP_3000046							
HP:3000047	biolink:PhenotypicFeature	Abnormal glossopharyngeal nerve morphology	Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).	UMLS:C4073255	hp.json	Abnormality of glossopharyngeal nerve	http://purl.obolibrary.org/obo/HP_3000047							
HP:3000048	biolink:PhenotypicFeature	Abnormal great auricular nerve morphology	Any structural anomaly of a great auricular nerve.	UMLS:C4073256	hp.json		http://purl.obolibrary.org/obo/HP_3000048							
HP:3000049	biolink:PhenotypicFeature	Abnormal greater palatine artery morphology	An abnormality of a greater palatine artery.	UMLS:C4073257	hp.json	Abnormality of greater palatine artery	http://purl.obolibrary.org/obo/HP_3000049							
HP:3000050	biolink:PhenotypicFeature	Abnormality of odontoid tissue	An abnormality of an odontoid tissue.	UMLS:C4073258	hp.json	Abnormality of hard tissues of teeth|Abnormality of tooth hard tissue	http://purl.obolibrary.org/obo/HP_3000050							
HP:3000051	biolink:PhenotypicFeature	Abnormal hyoglossus muscle morphology	An abnormality of a hyoglossus muscle.	UMLS:C4073259	hp.json	Abnormality of hyoglossus muscle	http://purl.obolibrary.org/obo/HP_3000051							
HP:3000052	biolink:PhenotypicFeature	Abnormality of hyoid bone	An abnormality of a hyoid bone.	UMLS:C4073260	hp.json		http://purl.obolibrary.org/obo/HP_3000052							
HP:3000053	biolink:PhenotypicFeature	Abnormal hypopharynx morphology	A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.	UMLS:C4073261	hp.json	Abnormality of hypopharynx|Abnormality of lower pharynx	http://purl.obolibrary.org/obo/HP_3000053							
HP:3000054	biolink:PhenotypicFeature	Abnormality of inferior alveolar artery	An abnormality of an inferior alveolar artery.	UMLS:C4073262	hp.json		http://purl.obolibrary.org/obo/HP_3000054							
HP:3000055	biolink:PhenotypicFeature	Abnormality of inferior alveolar nerve	An abnormality of an inferior alveolar nerve.	UMLS:C4073263	hp.json		http://purl.obolibrary.org/obo/HP_3000055							
HP:3000056	biolink:PhenotypicFeature	Abnormality of artery of lower lip	An abnormality of an artery of lower lip.	UMLS:C4073264	hp.json	Abnormality of the inferior labial artery	http://purl.obolibrary.org/obo/HP_3000056							
HP:3000057	biolink:PhenotypicFeature	Abnormality of inferior oblique extraocular muscle	An abnormality of an inferior oblique extraocular muscle.	UMLS:C4073265	hp.json	Abnormality of the inferior oblique muscle	http://purl.obolibrary.org/obo/HP_3000057							
HP:3000058	biolink:PhenotypicFeature	Abnormality of inferior rectus extraocular muscle	An abnormality of an inferior rectus extraocular muscle.	UMLS:C4073266	hp.json		http://purl.obolibrary.org/obo/HP_3000058							
HP:3000059	biolink:PhenotypicFeature	Abnormal inferior thyroid vein morphology	An abnormality of an inferior thyroid vein.	UMLS:C4073267	hp.json	Abnormality of inferior thyroid vein	http://purl.obolibrary.org/obo/HP_3000059							
HP:3000060	biolink:PhenotypicFeature	Abnormality of infraorbital artery	An abnormality of an infraorbital artery.	UMLS:C4073268	hp.json		http://purl.obolibrary.org/obo/HP_3000060							
HP:3000061	biolink:PhenotypicFeature	Abnormality of infra-orbital nerve	A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.	UMLS:C4073269	hp.json	Abnormality of the infraorbital nerve	http://purl.obolibrary.org/obo/HP_3000061							
HP:3000062	biolink:PhenotypicFeature	Abnormal internal carotid artery morphology	An abnormality of an internal carotid artery.	UMLS:C1860488	hp.json	Abnormality of internal carotid artery	http://purl.obolibrary.org/obo/HP_3000062							
HP:3000063	biolink:PhenotypicFeature	Abnormality of internal jugular vein	An abnormality of an internal jugular vein.	UMLS:C4073270	hp.json		http://purl.obolibrary.org/obo/HP_3000063							
HP:3000064	biolink:PhenotypicFeature	Abnormality of intrinsic muscle of tongue	An abnormality of an intrinsic muscle of tongue.	UMLS:C4073271	hp.json	Abnormality of intrinsic lingual muscle	http://purl.obolibrary.org/obo/HP_3000064							
HP:3000065	biolink:PhenotypicFeature	Abnormal lacrimal artery morphology	An abnormality of a lacrimal artery.	UMLS:C4073272	hp.json	Abnormality of lacrimal artery	http://purl.obolibrary.org/obo/HP_3000065							
HP:3000066	biolink:PhenotypicFeature	Abnormal lacrimal sac morphology	An abnormality of a lacrimal sac.	UMLS:C4073273	hp.json	Abnormality of lacrimal sac	http://purl.obolibrary.org/obo/HP_3000066							
HP:3000067	biolink:PhenotypicFeature	Abnormal lateral cricoarytenoid muscle morphology	Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.	UMLS:C4073274	hp.json	Abnormal anterior cricoarytenoid muscle morphology|Abnormality of lateral crico-arytenoid|Abnormality of lateral cricoarytenoid muscle	http://purl.obolibrary.org/obo/HP_3000067							
HP:3000068	biolink:PhenotypicFeature	Abnormality of lateral pterygoid muscle	An abnormality of a lateral pterygoid muscle.	UMLS:C4073275	hp.json		http://purl.obolibrary.org/obo/HP_3000068							
HP:3000069	biolink:PhenotypicFeature	Abnormality of lateral rectus extra-ocular muscle	An abnormality of a lateral rectus extra-ocular muscle.	UMLS:C4073276	hp.json		http://purl.obolibrary.org/obo/HP_3000069							
HP:3000070	biolink:PhenotypicFeature	Abnormality of levator anguli oris	An abnormality of a levator anguli oris.	UMLS:C4073277	hp.json		http://purl.obolibrary.org/obo/HP_3000070							
HP:3000071	biolink:PhenotypicFeature	Abnormality of levator labii superioris	An abnormality of a levator labii superioris.	UMLS:C4073278	hp.json		http://purl.obolibrary.org/obo/HP_3000071							
HP:3000072	biolink:PhenotypicFeature	Abnormal levator palpebrae superioris morphology	An abnormality of a levator palpebrae superioris.	UMLS:C4073279	hp.json		http://purl.obolibrary.org/obo/HP_3000072							
HP:3000073	biolink:PhenotypicFeature	Abnormality of levator veli palatini muscle	An abnormality of a levator veli palatini.	UMLS:C4073280	hp.json		http://purl.obolibrary.org/obo/HP_3000073							
HP:3000074	biolink:PhenotypicFeature	Abnormal lingual artery morphology	Any structural abnormality of a lingual artery.	UMLS:C4073281	hp.json	Abnormality of lingual artery	http://purl.obolibrary.org/obo/HP_3000074							
HP:3000075	biolink:PhenotypicFeature	Abnormal lingual nerve morphology	Any structural anomaly of a lingual nerve.	UMLS:C4073282	hp.json	Abnormality of lingual nerve	http://purl.obolibrary.org/obo/HP_3000075							
HP:3000076	biolink:PhenotypicFeature	Abnormality of lingual tonsil	An abnormality of a lingual tonsil.	UMLS:C4073283	hp.json		http://purl.obolibrary.org/obo/HP_3000076							
HP:3000077	biolink:PhenotypicFeature	Abnormal mandible condylar process morphology	An abnormality of a mandible condylar process.	UMLS:C4073284	hp.json	Abnormality of mandible condylar process	http://purl.obolibrary.org/obo/HP_3000077							
HP:3000078	biolink:PhenotypicFeature	Abnormal mandible coronoid process morphology	An abnormality of a mandible coronoid process.	UMLS:C4073285	hp.json	Abnormality of mandible coronoid process	http://purl.obolibrary.org/obo/HP_3000078							
HP:3000079	biolink:PhenotypicFeature	Abnormal mandibular symphysis morphology	A structural abnormality of a mandibular symphysis.	UMLS:C4073286	hp.json	Abnormality of mandible symphysis	http://purl.obolibrary.org/obo/HP_3000079							
HP:4000001	biolink:PhenotypicFeature	Abnormal cardiac magnetic resonance imaging finding	Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.		hp.json		http://purl.obolibrary.org/obo/HP_4000001							
HP:4000003	biolink:PhenotypicFeature	Elevated myocardial native T2	Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.		hp.json		http://purl.obolibrary.org/obo/HP_4000003							
HP:4000004	biolink:PhenotypicFeature	Myocardial late gadolinium enhancement	Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.		hp.json	Delayed myocardial gadolinium enhancement	http://purl.obolibrary.org/obo/HP_4000004							
HP:4000005	biolink:PhenotypicFeature	Pericardial late gadolinium enhancement	Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.		hp.json		http://purl.obolibrary.org/obo/HP_4000005							
HP:4000006	biolink:PhenotypicFeature	Elevated myocardial native T1	Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.		hp.json	Prolonged myocardial native T1	http://purl.obolibrary.org/obo/HP_4000006							
HP:4000007	biolink:PhenotypicFeature	Bronchoconstriction	Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.		hp.json	Bronchial constriction|Constriction of the bronchi	http://purl.obolibrary.org/obo/HP_4000007							
HP:4000008	biolink:PhenotypicFeature	Formation of multiple pronuclei during fertilization	Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.		hp.json		http://purl.obolibrary.org/obo/HP_4000008							
HP:4000009	biolink:PhenotypicFeature	Kinesiophobia	An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury.		hp.json		http://purl.obolibrary.org/obo/HP_4000009							
HP:4000010	biolink:PhenotypicFeature	Impaired renal tubular reabsorption of bicarbonate	Decreased renal tubular reabsorption of bicarbonate.		hp.json		http://purl.obolibrary.org/obo/HP_4000010							
HP:4000011	biolink:PhenotypicFeature	History of congenital HPV infection	A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.		hp.json		http://purl.obolibrary.org/obo/HP_4000011							
HP:4000012	biolink:PhenotypicFeature	Necrotizing ileitis			hp.json		http://purl.obolibrary.org/obo/HP_4000012							
HP:4000013	biolink:PhenotypicFeature	Anti-desmoglein-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.		hp.json		http://purl.obolibrary.org/obo/HP_4000013							
HP:4000014	biolink:PhenotypicFeature	Anti-desmoglein-3 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.		hp.json		http://purl.obolibrary.org/obo/HP_4000014							
HP:4000015	biolink:PhenotypicFeature	Anti-envoplakin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.		hp.json		http://purl.obolibrary.org/obo/HP_4000015							
HP:4000016	biolink:PhenotypicFeature	Anti-periplakin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin.		hp.json		http://purl.obolibrary.org/obo/HP_4000016							
HP:4000017	biolink:PhenotypicFeature	Anti-desmoplakin I antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.		hp.json		http://purl.obolibrary.org/obo/HP_4000017							
HP:4000018	biolink:PhenotypicFeature	Anti-desmoplakin II antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.		hp.json		http://purl.obolibrary.org/obo/HP_4000018							
HP:4000019	biolink:PhenotypicFeature	Anti-BP230 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.		hp.json		http://purl.obolibrary.org/obo/HP_4000019							
HP:4000020	biolink:PhenotypicFeature	Anti-BP180 antibody positivity	Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen.		hp.json		http://purl.obolibrary.org/obo/HP_4000020							
HP:4000021	biolink:PhenotypicFeature	Anti-laminin 332 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.		hp.json	Anti-laminin 5 antibody positivity	http://purl.obolibrary.org/obo/HP_4000021							
HP:4000022	biolink:PhenotypicFeature	Anti-laminin 6 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.		hp.json		http://purl.obolibrary.org/obo/HP_4000022							
HP:4000023	biolink:PhenotypicFeature	Anti-laminin gamma1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.		hp.json		http://purl.obolibrary.org/obo/HP_4000023							
HP:4000024	biolink:PhenotypicFeature	Anti-laminin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.		hp.json		http://purl.obolibrary.org/obo/HP_4000024							
HP:4000025	biolink:PhenotypicFeature	Anti-integrin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.		hp.json		http://purl.obolibrary.org/obo/HP_4000025							
HP:4000026	biolink:PhenotypicFeature	Anti-transglutaminase 6 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.		hp.json		http://purl.obolibrary.org/obo/HP_4000026							
HP:4000027	biolink:PhenotypicFeature	anti-LAD-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.		hp.json		http://purl.obolibrary.org/obo/HP_4000027							
HP:4000028	biolink:PhenotypicFeature	Anti-LABD97 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.		hp.json		http://purl.obolibrary.org/obo/HP_4000028							
HP:4000029	biolink:PhenotypicFeature	Antigliadin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.		hp.json	AGA autoantibodies	http://purl.obolibrary.org/obo/HP_4000029							
HP:4000030	biolink:PhenotypicFeature	Anti-reticulin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.		hp.json		http://purl.obolibrary.org/obo/HP_4000030							
HP:4000031	biolink:PhenotypicFeature	Anti-type VII collagen antibody	The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.		hp.json		http://purl.obolibrary.org/obo/HP_4000031							
HP:4000032	biolink:PhenotypicFeature	False perception of self-motion	A perception that one's body is moving or swaying despite lack of motion of the body.		hp.json		http://purl.obolibrary.org/obo/HP_4000032							
HP:4000033	biolink:PhenotypicFeature	Non-spinning vertigo	A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).		hp.json		http://purl.obolibrary.org/obo/HP_4000033							
HP:4000034	biolink:PhenotypicFeature	Infection-ssociated lymphopenia	Decreased lymphocyte count during infections.		hp.json	Infection-ssociated lymphocytopenia	http://purl.obolibrary.org/obo/HP_4000034							
HP:4000035	biolink:PhenotypicFeature	Primary obstructive megaureter	Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.		hp.json		http://purl.obolibrary.org/obo/HP_4000035							
HP:4000036	biolink:PhenotypicFeature	Encysted hydrocele of the cord	A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.		hp.json		http://purl.obolibrary.org/obo/HP_4000036							
HP:4000037	biolink:PhenotypicFeature	Congenital hydrocele	Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.		hp.json		http://purl.obolibrary.org/obo/HP_4000037							
HP:4000038	biolink:PhenotypicFeature	Infantile hydrocele	Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.		hp.json		http://purl.obolibrary.org/obo/HP_4000038							
HP:4000039	biolink:PhenotypicFeature	Reduced proportion of mucosal-associated invariant T cells	A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.		hp.json		http://purl.obolibrary.org/obo/HP_4000039							
HP:4000040	biolink:PhenotypicFeature	Puerpural onset	Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following.		hp.json		http://purl.obolibrary.org/obo/HP_4000040							
HP:4000041	biolink:PhenotypicFeature	AA amyloidosis	Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.		hp.json		http://purl.obolibrary.org/obo/HP_4000041							
HP:4000042	biolink:PhenotypicFeature	Fracture type	Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110).		hp.json		http://purl.obolibrary.org/obo/HP_4000042							
HP:4000043	biolink:PhenotypicFeature	Greenstick fracture	A type of fracture in which the broken bone is not completely separated.		hp.json	Incomplete fracture	http://purl.obolibrary.org/obo/HP_4000043							
HP:4000044	biolink:PhenotypicFeature	Transverse fracture	A type of fracture in which the break is in a straight line across the bone.		hp.json		http://purl.obolibrary.org/obo/HP_4000044							
HP:4000045	biolink:PhenotypicFeature	Spiral fracture	A type of fracture in which the break spirals around the bone.		hp.json		http://purl.obolibrary.org/obo/HP_4000045							
HP:4000046	biolink:PhenotypicFeature	Oblique fracture	A type of fracture in which there is a diagonal break across the bone.		hp.json		http://purl.obolibrary.org/obo/HP_4000046							
HP:4000047	biolink:PhenotypicFeature	Compression fracture	A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance.		hp.json	Wedge fracture	http://purl.obolibrary.org/obo/HP_4000047							
HP:4000048	biolink:PhenotypicFeature	Comminuted fracture	A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site.		hp.json		http://purl.obolibrary.org/obo/HP_4000048							
HP:4000049	biolink:PhenotypicFeature	Segmental fracture	A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone.		hp.json		http://purl.obolibrary.org/obo/HP_4000049							
HP:4000050	biolink:PhenotypicFeature	Open fracture	A type of fracture in which there is an open wound or break in the skin near the site of the broken bone.		hp.json	Compound fracture	http://purl.obolibrary.org/obo/HP_4000050							
HP:4000051	biolink:PhenotypicFeature	Closed fracture	A type of fracture in which the broken bone that does not penetrate the skin.		hp.json		http://purl.obolibrary.org/obo/HP_4000051							
HP:4000052	biolink:PhenotypicFeature	Avulsion fracture	A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma.		hp.json		http://purl.obolibrary.org/obo/HP_4000052							
HP:4000053	biolink:PhenotypicFeature	Displaced fracture	A type of fracture in which the ends of the fractured bone are no longer aligned.		hp.json		http://purl.obolibrary.org/obo/HP_4000053							
HP:4000054	biolink:PhenotypicFeature	Exanthem	A widespread rash.		hp.json		http://purl.obolibrary.org/obo/HP_4000054							
HP:4000055	biolink:PhenotypicFeature	Intestinal inflammation	A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.		hp.json		http://purl.obolibrary.org/obo/HP_4000055							
HP:4000056	biolink:PhenotypicFeature	Abnormal apoptosis	Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.		hp.json		http://purl.obolibrary.org/obo/HP_4000056							
HP:4000057	biolink:PhenotypicFeature	Decreased FasL-mediated apoptosis	A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.		hp.json		http://purl.obolibrary.org/obo/HP_4000057							
HP:4000058	biolink:PhenotypicFeature	Glomerular proteinuria	A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.  PMID: 19634399		hp.json		http://purl.obolibrary.org/obo/HP_4000058							
HP:4000059	biolink:PhenotypicFeature	Abnormal lung development	A structural defect associated with abnormal development of the lung.		hp.json	Developmental pulmonary anomaly	http://purl.obolibrary.org/obo/HP_4000059							
HP:4000060	biolink:PhenotypicFeature	Abnormal pulmonary alveolar system development			hp.json		http://purl.obolibrary.org/obo/HP_4000060							
HP:4000061	biolink:PhenotypicFeature	Pancreatic alpha-cell hyperplasia	A diffuse and specific increase in the number of alpha-cells.		hp.json		http://purl.obolibrary.org/obo/HP_4000061							
HP:5000000	biolink:PhenotypicFeature	Anti-AK5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).		hp.json		http://purl.obolibrary.org/obo/HP_5000000							
HP:5000001	biolink:PhenotypicFeature	Anti-AMPAR antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).		hp.json	Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody	http://purl.obolibrary.org/obo/HP_5000001							
HP:5000002	biolink:PhenotypicFeature	Anti-Amphiphysin antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.		hp.json		http://purl.obolibrary.org/obo/HP_5000002							
HP:5000003	biolink:PhenotypicFeature	Anti-ARHGAP26 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).		hp.json	Anti-Ca antibody|Anti-RhoGTPase-activating protein 26 antibody	http://purl.obolibrary.org/obo/HP_5000003							
HP:5000004	biolink:PhenotypicFeature	Anti-CARP VIII antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).		hp.json	Anti CARPVIII antibody|Anti-carbonic anhydrase-related protein VIII antibody	http://purl.obolibrary.org/obo/HP_5000004							
HP:5000005	biolink:PhenotypicFeature	Anti-CASPR2	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).		hp.json	Anti-Caspr2 antibody|Anti-contactin-associated protein-like 2 antibody	http://purl.obolibrary.org/obo/HP_5000005							
HP:5000006	biolink:PhenotypicFeature	Anti-CV2/CRMP5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.		hp.json	Anti-CV2 antibody|Anti-CV2/collapsin response mediator protein (CRMP)5 antibody	http://purl.obolibrary.org/obo/HP_5000006							
HP:5000007	biolink:PhenotypicFeature	Anti-DPPX antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).		hp.json	Anti-dipeptidyl-peptidase-like protein 6 antibody	http://purl.obolibrary.org/obo/HP_5000007							
HP:5000008	biolink:PhenotypicFeature	Anti-FGFR3 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.		hp.json	Anti-fibroblast growth factor receptor 3 antibody	http://purl.obolibrary.org/obo/HP_5000008							
HP:5000009	biolink:PhenotypicFeature	Anti-GABA(A)R antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.		hp.json	Anti-GABAA R antibody|Anti-gamma amino butyric acid type A receptors antibody	http://purl.obolibrary.org/obo/HP_5000009							
HP:5000010	biolink:PhenotypicFeature	Anti-GABA(B)R antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.		hp.json	Anti-gamma-aminobutyric acid B receptor antibody	http://purl.obolibrary.org/obo/HP_5000010							
HP:5000011	biolink:PhenotypicFeature	Anti-GAD65 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).		hp.json	Anti-glutamic acid decarboxylase 65 antibody	http://purl.obolibrary.org/obo/HP_5000011							
HP:5000012	biolink:PhenotypicFeature	Anti-Gephyrin antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.		hp.json		http://purl.obolibrary.org/obo/HP_5000012							
HP:5000013	biolink:PhenotypicFeature	Anti-GFAP antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).		hp.json	Anti-glial fibrillary acidic protein antibody	http://purl.obolibrary.org/obo/HP_5000013							
HP:5000014	biolink:PhenotypicFeature	Anti-GlyR antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).		hp.json	Anti-glycine receptor antibody	http://purl.obolibrary.org/obo/HP_5000014							
HP:5000015	biolink:PhenotypicFeature	Anti-Homer-3 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.		hp.json	Anti-Homer protein homolog 3 antibody	http://purl.obolibrary.org/obo/HP_5000015							
HP:5000016	biolink:PhenotypicFeature	Anti-Hu antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.		hp.json	Anti-ANNA-1 antibody|Anti-Neuronal Nuclear Antibody type-1 antibody	http://purl.obolibrary.org/obo/HP_5000016							
HP:5000017	biolink:PhenotypicFeature	Anti-Iglon5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).		hp.json	Anti-immunoglobulin-like cell adhesion molecule 5 antibody	http://purl.obolibrary.org/obo/HP_5000017							
HP:5000018	biolink:PhenotypicFeature	Anti-ITPR1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).		hp.json	Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody	http://purl.obolibrary.org/obo/HP_5000018							
HP:5000019	biolink:PhenotypicFeature	Anti-KLHL11 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).		hp.json	Anti-kelch-like protein 11 antibody	http://purl.obolibrary.org/obo/HP_5000019							
HP:5000020	biolink:PhenotypicFeature	Anti-LGI1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).		hp.json	Anti-Anti-leucine-rich glioma-inactivated 1 antibody	http://purl.obolibrary.org/obo/HP_5000020							
HP:5000021	biolink:PhenotypicFeature	Anti-Ma antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.		hp.json		http://purl.obolibrary.org/obo/HP_5000021							
HP:5000022	biolink:PhenotypicFeature	Anti-Ma2 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.		hp.json	Anti-Ta antibody	http://purl.obolibrary.org/obo/HP_5000022							
HP:5000023	biolink:PhenotypicFeature	Anti-Ma1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.		hp.json		http://purl.obolibrary.org/obo/HP_5000023							
HP:5000024	biolink:PhenotypicFeature	Anti-mGluR1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).		hp.json	Anti-metabotropic glutamate receptor 1 antibody	http://purl.obolibrary.org/obo/HP_5000024							
HP:5000025	biolink:PhenotypicFeature	Anti-mGluR5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).		hp.json	Anti-Metabotropic Glutamate Receptor Type 5 antibody	http://purl.obolibrary.org/obo/HP_5000025							
HP:5000026	biolink:PhenotypicFeature	Anti-neurexin-3alpha antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.		hp.json	Anti-neurexin-3alpha antibody	http://purl.obolibrary.org/obo/HP_5000026							
HP:5000027	biolink:PhenotypicFeature	Anti-P/Q-type VGCC antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).		hp.json	Anti-P/Q-type voltage-gated calcium-channel antibody	http://purl.obolibrary.org/obo/HP_5000027							
HP:5000028	biolink:PhenotypicFeature	Anti-MAP1B antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).		hp.json	Anti-Purkinje cell cytoplasmic type-2 antibody|Anti-microtubule-associated protein 1B antibody	http://purl.obolibrary.org/obo/HP_5000028							
HP:5000029	biolink:PhenotypicFeature	Anti-PKCgamma antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.		hp.json	Anti-Protein kinase C gamma antibody	http://purl.obolibrary.org/obo/HP_5000029							
HP:5000030	biolink:PhenotypicFeature	Anti-Ri antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody.		hp.json	Anti-ANNA-2 antibody	http://purl.obolibrary.org/obo/HP_5000030							
HP:5000031	biolink:PhenotypicFeature	Anti-Septin-5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.		hp.json		http://purl.obolibrary.org/obo/HP_5000031							
HP:5000032	biolink:PhenotypicFeature	Anti-SEZ6L2 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).		hp.json		http://purl.obolibrary.org/obo/HP_5000032							
HP:5000033	biolink:PhenotypicFeature	Anti-SOX1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.		hp.json	Anti-Sry-like high mobility group box (SOX) 1 antibody	http://purl.obolibrary.org/obo/HP_5000033							
HP:5000034	biolink:PhenotypicFeature	Anti-Tr/DNER antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.		hp.json	Anti-delta/notch-like epidermal growth factor-related receptor antibody|PCA-Tr	http://purl.obolibrary.org/obo/HP_5000034							
HP:5000035	biolink:PhenotypicFeature	Anti-TRIM46 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).		hp.json		http://purl.obolibrary.org/obo/HP_5000035							
HP:5000036	biolink:PhenotypicFeature	Anti-TRIM9/TRIM67 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.		hp.json		http://purl.obolibrary.org/obo/HP_5000036							
HP:5000037	biolink:PhenotypicFeature	Anti-Yo antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.		hp.json	Anti-Purkinje cell cytoplasmic antibody 1	http://purl.obolibrary.org/obo/HP_5000037							
HP:5000038	biolink:PhenotypicFeature	Anti-titin antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.		hp.json		http://purl.obolibrary.org/obo/HP_5000038							
HP:5000039	biolink:PhenotypicFeature	Anti-Zic4 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).		hp.json		http://purl.obolibrary.org/obo/HP_5000039							
HP:5000041	biolink:PhenotypicFeature	Anti-CRMP5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against collapsin response-mediated protein 5 (CRMP5).		hp.json	Anti-collapsin response-mediated protein 5 antibody	http://purl.obolibrary.org/obo/HP_5000041							
HP:5000042	biolink:PhenotypicFeature	Anti-Sj/ITPR1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.		hp.json	Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody	http://purl.obolibrary.org/obo/HP_5000042							
HP:5000043	biolink:PhenotypicFeature	Anti-D2 R antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.		hp.json	Anti-dopamine-2 receptors (D2R) antibody	http://purl.obolibrary.org/obo/HP_5000043							
HP:5000044	biolink:PhenotypicFeature	Anti-GluK2 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).		hp.json	Anti-glutamate kainate receptor subunit 2 antibody	http://purl.obolibrary.org/obo/HP_5000044							
HP:5000045	biolink:PhenotypicFeature	Anti-MuSK antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against muscle-specific tyrosine kinase (MuSK).		hp.json	Anti-anti-muscle-specific tyrosine kinase antibody	http://purl.obolibrary.org/obo/HP_5000045							
HP:5000046	biolink:PhenotypicFeature	Anti-Lrp4 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).		hp.json	Anti-low-density lipoprotein receptor-related protein 4 antibody	http://purl.obolibrary.org/obo/HP_5000046							
HP:5000047	biolink:PhenotypicFeature	Anti-ryanodine receptor antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.		hp.json	Anti-RyR antibody	http://purl.obolibrary.org/obo/HP_5000047							
HP:5000048	biolink:PhenotypicFeature	Anti-Kv1.4 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.		hp.json		http://purl.obolibrary.org/obo/HP_5000048							
OBO:hp#abbreviation	biolink:OntologyClass	abbreviation			hp.json		http://purl.obolibrary.org/obo/hp#abbreviation							
OBO:hp#display_label	biolink:OntologyClass	display label			hp.json		http://purl.obolibrary.org/obo/hp#display_label							
OBO:hp#layperson	biolink:OntologyClass	layperson term			hp.json		http://purl.obolibrary.org/obo/hp#layperson							
OBO:hp#obsolete_synonym	biolink:OntologyClass	discarded/obsoleted synonym			hp.json		http://purl.obolibrary.org/obo/hp#obsolete_synonym							
OBO:hp#plural_form	biolink:OntologyClass	plural form			hp.json		http://purl.obolibrary.org/obo/hp#plural_form							
OBO:hp#uk_spelling	biolink:OntologyClass	UK spelling			hp.json		http://purl.obolibrary.org/obo/hp#uk_spelling							
HP:0045087	biolink:PhenotypicFeature	Hip joint hypermobility			hp.json		http://purl.obolibrary.org/obo/HP_0045087							
OBO:hp#is_observable_through	biolink:OntologyClass	is_observable_through			hp.json		http://purl.obolibrary.org/obo/hp#is_observable_through